339 results on '"Genovefa, Kolovou"'
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2. Regional differences in physicians’ behavior and factors influencing the intensity of PCSK9 inhibitor therapy with alirocumab: a subanalysis of the ODYSSEY APPRISE study
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Maciej Banach, Joanna Lewek, Kaja Pol, Daniel Rabczenko, Serban M. Balanescu, Vladimir Blaha, Richard Ceska, Piotr Jankowski, Stanisław Surma, Genovefa Kolovou, Evangelos Liberopoulos, Florin Mitu, Magda Mitu, Franjo Husam Naji, Gyorgy Paragh, Magdalena Popławska, Michal Vrablik, and Daniel Pella
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alirocumab ,LDL-C ,PCKS9 inhibition ,therapy goals ,therapy intensity ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
BackgroundDespite better accessibility of the effective lipid-lowering therapies, only about 20% of patients at very high cardiovascular risk achieve the low-density lipoprotein cholesterol (LDL-C) goals. There is a large disparity between European countries with worse results observed for the Central and Eastern Europe (CEE) patients. One of the main reasons for this ineffectiveness is therapeutic inertia related to the limited access to appropriate therapy and suitable dosage intensity. Thus, we aimed to compare the differences in physicians’ therapeutic decisions on alirocumab dose selection, and factors affecting these in CEE countries vs. other countries included in the ODYSSEY APPRISE study.MethodsODYSSEY APPRISE was a prospective, single-arm, phase 3b open-label (≥12 weeks to ≤30 months) study with alirocumab. Patients received 75 or 150 mg of alirocumab every 2 weeks, with dose adjustment during the study based on physician's judgment. The CEE group in the study included Czechia, Greece, Hungary, Poland, Romania, Slovakia, and Slovenia, which we compared with the other nine European countries (Austria, Belgium, Denmark, Finland, France, Germany, Italy, Spain, and Switzerland) plus Canada.ResultsA total of 921 patients on alirocumab were involved [modified intention-to-treat (mITT) analysis], including 114 (12.4%) subjects from CEE countries. Therapy in CEE vs. other countries was numerically more frequently started with lower alirocumab dose (75 mg) at the first visit (74.6 vs. 68%, p = 0.16). Since week 36, the higher dose was predominantly used in CEE patients (150 mg dose in 51.6% patients), which was maintained by the end of the study. Altogether, alirocumab dose was significantly more often increased by CEE physicians (54.1 vs. 39.9%, p = 0.013). Therefore, more patients achieved LDL-C goal at the end of the study (
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- 2023
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3. Familial Hypercholesterolemia in the Elderly: An Analysis of Clinical Profile and Atherosclerotic Cardiovascular Disease Burden from the Hellas-FH Registry
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Christina Antza, Christos V. Rizos, Vasileios Kotsis, George Liamis, Ioannis Skoumas, Loukianos Rallidis, Anastasia Garoufi, Genovefa Kolovou, Konstantinos Tziomalos, Emmanouil Skalidis, George Sfikas, Michalis Doumas, Vaia Lambadiari, Panagiotis Anagnostis, Kimon Stamatelopoulos, Georgia Anastasiou, Iosif Koutagiar, Estela Kiouri, Vana Kolovou, Georgios Polychronopoulos, Evangelos Zacharis, Charalambos Koumaras, Chrysoula Boutari, Haralampos Milionis, and Evangelos Liberopoulos
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familial hypercholesterolemia ,dyslipidemia ,elderlies ,older age ,HELLAS-FH registry ,atherosclerotic cardiovascular disease ,Biology (General) ,QH301-705.5 - Abstract
Background: Familial hypercholesterolemia (FH) carries a high risk of atherosclerotic cardiovascular disease (ASCVD). As the population ages, the age-related influence on clinical characteristics and outcomes becomes increasingly pertinent. This cross-sectional analysis from the HELLAS-FH registry aims to explore potential differences in clinical characteristics, treatment, ASCVD, and goal achievement between those younger and older than 65 years with FH. Results: A total of 2273 adults with heterozygous FH (51.4% males) were studied. Elderly FH patients (n = 349) had a higher prevalence of ASCVD risk factors, such as hypertension (52.1% vs. 20.9%, p < 0.05) and type 2 diabetes (16.9% vs. 6.0%, p < 0.05), compared to younger patients (n = 1924). They also had a higher prevalence of established ASCVD (38.4% vs. 23.1%, p < 0.001), particularly CAD (33.0% vs. 20.2%, p < 0.001), even after adjusting for major ASCVD risk factors. Elderly patients were more frequently and intensively receiving lipid-lowering treatment than younger ones. Although post-treatment LDL-C levels were lower in elderly than younger patients (125 vs. 146 mg/dL, p < 0.05), both groups had similar attainment of the LDL-C target (3.7% vs. 3.0%). Conclusions: Elderly FH patients have a higher prevalence of ASCVD, particularly CAD. Despite more aggressive treatment, the achievement of LDL-C targets remains very poor. These results emphasize the importance of early FH diagnosis and treatment in reducing ASCVD.
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- 2024
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4. A Posteriori Dietary Patterns and Coronary Artery Disease in a Greek Case–Control Study
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Maria Dimitriou, Ioanna Panagiota Kalafati, Loukianos S. Rallidis, Genovefa Kolovou, and George V. Dedoussis
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coronary artery disease ,cardiovascular disease ,dietary patterns ,Western-type dietary pattern ,factor analysis ,Nutrition. Foods and food supply ,TX341-641 - Abstract
Introduction: Diet is one of the most important modifiable risk factors associated with cardiovascular health (CH). Research identifying dietary patterns (DPs) through data-driven analysis and reporting associations between DPs and coronary artery disease (CAD) outcomes is rather limited. Objective: The aim of the present report was to generate DPs through factor analysis (FA) and to examine their association with CAD risk. Methods: Participants (n = 1017) consisted of cases diagnosed with CAD (n = 356) and controls (n = 661) drawn from the THISEAS study. Demographic, anthropometric and lifestyle data were collected. Dietary components were generated through FA. Logistic regression analysis was performed to estimate CAD relative risks. Results: FA generated seven dietary components, explaining 53.5% of the total variation in intake. The Western-type DP showed a modest significant association with CAD risk, after controlling for confounders (OR = 1.20; 95% CI = 1.09–1.32, p < 0.001). The vegetarian-type DP was not significantly associated with the likelihood of CAD (OR = 0.95; 95% CI = 0.84–1.04, p = 0.259). Discussion: The Western-type DP was positively associated with CAD risk and the odds were further increased after controlling for confounders. This finding is in concordance with previously reported positive associations between Western patterns and CAD risk. Limited data exist regarding a posteriori DPs and their effect on CAD risk.
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- 2023
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5. Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
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Laura D’Erasmo, Antonina Giammanco, Patrizia Suppressa, Chiara Pavanello, Gabriella Iannuzzo, Alessia Di Costanzo, Daniele Tramontano, Ilenia Minicocci, Simone Bini, Anja Vogt, Kim Stewards, Jeanine Roeters Van Lennep, Stefano Bertolini, Marcello Arca, the Italian and European Working Group on Lomitapide in HoFH, Maurizio Averna, Eric Boersma, Katia Bonomo, Marco Bucci, Laura Calabresi, Paolo Calabrò, Angelo Baldassare Cefalù, Jaimini Cegla, Arturo Cesaro, Sergio D’Addato, Eugene Daphnis, Maria Donata Di Taranto, Avishay Ellis, Fabio Fimiani, Giuliana Fortunato, Marco Gentile, Meral Kayikcioglu, Genovefa Kolovou, Evangelos Liberopoulos, Karin Littmann, Sergio Martínez-Hervás, Tiziana Montalcini, Fabio Nota, Livia Pisciotta, Arturo Puja, Giovanni José Real, Jeanine Roeters van Lennep, Joost Rutten, Carlo Sabbà, Tiziana Sampietro, Francesco Sbrana, Kim Steward, Fulvio Ventura, Battista Vigna, and Shahenaz Walji
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Real-world study ,rare disease ,autosomal recessive hypercholesterolaemia ,LDL-C ,lomitapide ,long-term ,Genetics ,QH426-470 - Abstract
Backgroundand aim: Autosomal recessive hypercholesterolemia (ARH) is a rare autosomal recessive disorder of low-density lipoprotein (LDL) metabolism caused by pathogenic variants in the LDLRAP1 gene. Like homozygous familial hypercholesterolemia, ARH is resistant to conventional LDL-lowering medications and causes a high risk of atherosclerotic cardiovascular diseases (ASCVDs) and aortic valve stenosis. Lomitapide is emerging as an efficacious therapy in classical HoFH, but few data are available for ARH.Results: This is a subanalysis carried out on nine ARH patients included in the Pan-European Lomitapide Study. The age at starting lomitapide was 46 (interquartile range (IQR), 39.0–65.5) years, with a median treatment duration of 31.0 (IQR 14.0–40.5) months. At baseline, four (44.4%) patients had hypertension, one (11.1%) had diabetes mellitus, two (22.2%) were active smokers, and five (55.5%) reported ASCVD. The baseline LDL-C was 257.0 (IQR, 165.3–309.2) mg/dL. All patients were on statins plus ezetimibe, three were receiving Lipoprotein apheresis (LA), and one was also receiving proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i). The addition of lomitapide (mean dose, 10 mg) resulted in the achievement of a median on-treatment LDL-C of 101.7 mg/dL (IQR, 71.3–138.3; 60.4% reduction from baseline), with a best LDL-C value of 68.0 mg/dL (IQR, 43.7–86.7; 73.5% reduction from baseline). During follow-up, one patient stopped both PCSK9i and LA. Recurrence of ASCVD events was reported in one patient. The median on-treatment aspartate transaminase and alanine transaminase values were 31.1 (IQR, 22.6–48.3) U/L and 31.1 (IQR, 27.2–53.8) U/L, respectively. Among six ARH patients with available fibroscan examination, liver stiffness values recorded at the last visit were within the normal range (median, 4.7 KPa; IQR, 3.6–5.3 KPa).Conclusion: Lomitapide is effective and safe in ARH therapy as well as in classical HoFH.
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- 2022
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6. Lipoprotein apheresis: a Hellenic consensus on its clinical use
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Genovefa Kolovou, Vana Kolovou, Helen Bilianou, Georgios Goumas, Stefanos Foussas, Eirini Grapsa, Anastasia Garoufi, Georgios Karavolias, Sophie Mavrogieni, Andreas Melidonis, Haralampos Milionis, Loukianos Rallidis, Dimitris Richter, Ioannis Skoumas, Dimitris Tousoulis, Charalambos Vlachopoulos, and Evangelos Liberopoulos
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2021
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7. Rationale and design of the Greek registry for familial hypercholesterolemia (GRegistry-FH) of the hellenic college of treatment of atherosclerosis (HCTA)
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Genovefa Kolovou, Christina Marvaki, Stamatis Makrygiannis, Olga Kadda, Vasiliki Giannakopoulou, Petros Kalogeropoulos, Katerina Anagnostopoulou, Georgios Goumas, Georgios Kazianis, Sotiria Limberi, Despina Perrea, Vana Kolovou, and Helen Bilianou
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2020
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8. Achieving low-density lipoprotein cholesterol targets as assessed by different methods in patients with familial hypercholesterolemia: an analysis from the HELLAS-FH registry
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Christos V. Rizos, Matilda Florentin, Ioannis Skoumas, Konstantinos Tziomalos, Loukianos Rallidis, Vasileios Kotsis, Vasileios Athyros, Emmanouil Skalidis, Genovefa Kolovou, Anastasia Garoufi, Eleni Bilianou, Iosif Koutagiar, Dimitrios Agapakis, Estela Kiouri, Christina Antza, Niki Katsiki, Evangelos Zacharis, Achilleas Attilakos, George Sfikas, Panagiotis Anagnostis, Demosthenes B. Panagiotakos, and Evangelos N. Liberopoulos
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Familial hypercholesterolemia ,Greece ,Hellenic familial hypercholesterolemia registry ,Cardiovascular disease ,Hypolipidemic treatment ,Target achievement ,Nutritional diseases. Deficiency diseases ,RC620-627 - Abstract
Abstract Background Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and increased cardiovascular disease (CVD) risk. FH patients often have increased lipoprotein(a) [Lp(a)] levels, which further increase CVD risk. Novel methods for accurately calculating LDL-C have been proposed. Methods Patients with FH were recruited by a network of Greek sites participating in the HELLAS-FH registry. LDL-C levels were calculated using the Friedewald (LDL-CF) and the Martin/Hopkins (LDL-CM/H) equations as well as after correcting LDL-CM/H for Lp(a) levels [LDL-CLp(a)corM/H]. The objective was to compare LDL-C levels and target achievement as estimated by different methods in FH patients. Results This analysis included 1620 patients (1423 adults and 197 children). In adults at diagnosis, LDL-CF and LDL-CM/H levels were similar [235 ± 70 mg/dL (6.1 ± 1.8 mmol/L) vs 235 ± 69 mg/dL (6.1 ± 1.8 mmol/L), respectively; P = NS], while LDL-CLp(a)corM/H levels were non-significantly lower than LDL-CF [211 ± 61 mg/dL (5.5 ± 1.6 mmol/L); P = 0.432]. In treated adults (n = 966) both LDL-CF [150 ± 71 mg/dL (3.9 ± 1.8 mmol/L)] and LDL-CM/H levels [151 ± 70 mg/dL (6.1 ± 1.8 mmol/L); P = 0.746] were similar, whereas LDL-CLp(a)corM/H levels were significantly lower than LDL-CF [121 ± 62 mg/dL (3.1 ± 1.6 mmol/L); P
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- 2020
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9. Prevalence of Diabetes and Its Association with Atherosclerotic Cardiovascular Disease Risk in Patients with Familial Hypercholesterolemia: An Analysis from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH)
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Chrysoula Boutari, Christos V. Rizos, Michalis Doumas, George Liamis, Ioannis Skoumas, Loukianos Rallidis, Anastasia Garoufi, Genovefa Kolovou, Konstantinos Tziomalos, Emmanouil Skalidis, Vasileios Kotsis, George Sfikas, Vaia Lambadiari, Panagiotis Anagnostis, Eleni Bilianou, Georgia Anastasiou, Iosif Koutagiar, Estela Kiouri, Achilleas Attilakos, Vana Kolovou, Evangelos Zacharis, Christina Antza, and Evangelos Liberopoulos
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familial hypercholesterolemia ,HELLAS-FH ,cardiovascular disease ,coronary artery disease ,diabetes ,Medicine ,Pharmacy and materia medica ,RS1-441 - Abstract
Familial hypercholesterolemia (FH) and type 2 diabetes mellitus (T2DM) are both associated with a high risk of atherosclerotic cardiovascular disease (ASCVD). Little is known about the prevalence of T2DM and its association with ASCVD risk in FH patients. This was a cross-sectional analysis from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH) including adults with FH (n = 1719, mean age 51.3 ± 14.6 years). Of FH patients, 7.2% had a diagnosis of T2DM. The prevalence of ASCVD, coronary artery disease (CAD), and stroke was higher among subjects with T2DM compared with those without (55.3% vs. 23.3%, 48.8% vs. 20.7%, 8.3% vs. 2.7%, respectively, p < 0.001). When adjusted for age, systolic blood pressure, smoking, body mass index, hypertension, waist circumference, triglyceride levels, high-density lipoprotein cholesterol levels, and gender, T2DM was significantly associated with prevalent ASCVD [OR 2.0 (95% CI 1.2–3.3), p = 0.004]. FH patients with T2DM were more likely to have undergone coronary revascularization than those without (14.2% vs. 4.5% for coronary artery bypass graft, and 23.9% vs. 11.5% for percutaneous coronary intervention, p < 0.001). T2DM is associated with an increased risk for prevalent ASCVD in subjects with FH. This may have implications for risk stratification and treatment intensity in these patients.
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- 2022
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10. Cardiovascular Magnetic Resonance as Pathophysiologic Tool in Diabetes Mellitus
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Sophie I. Mavrogeni, Flora Bacopoulou, George Markousis-Mavrogenis, Aikaterini Giannakopoulou, Ourania Kariki, Vasiliki Vartela, Genovefa Kolovou, Evangelia Charmandari, and George Chrousos
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cardiovascular ,magnetic resonance ,coronary artery disease ,heart failure ,myocardial fibrosis ,diabetes ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Diabetes mellitus can independently contribute to cardiovascular disease and represents a severe risk factor for premature development of cardiovascular disease. A three-fold higher mortality than the general population has been observed in type 1 diabetes mellitus whereas a two- to four-fold increased probability to develop cardiovascular disease has been observed in type 2 diabetes mellitus. Cardiovascular magnetic resonance, a non-radiative modality, is superior to all other modalities in detecting myocardial infarction. The main cardiovascular magnetic resonance sequences used include a) balanced steady-state free precession (bSSFP) for function evaluation; b) T2-W for oedema detection; c) T1 W for ischemia detection during adenosine stress; and d) late gadolinium enhanced T1-W images (LGE), evaluated 15 min after injection of paramagnetic contrast agent gadolinium, which permit the diagnosis of replacement fibrosis, which appears white in the middle of suppressed, nulled myocardium. Although LGE is the technique of choice for diagnosis of replacement fibrosis, it cannot assess diffuse myocardial fibrosis. The application of T1 mapping (native or pre contrast and post contrast) allows identification of diffuse myocardial fibrosis, which is not detectable my other means. Native T1 and Contrast-enhanced T1 mapping are involved in the extracellular volume fraction (ECV) calculation. Recently, 1H-cardiovascular magnetic resonance spectroscopy has been applied to calculate the amount of myocardial triglycerides, but at the moment it is not part of the routine assessment of diabetes mellitus. The multifaceted nature of cardiovascular magnetic resonance has the great potential of concurrent evaluation of function and myocardial ischemia/fibrosis in the same examination and represents an indispensable tool for accurate diagnosis of cardiovascular disease in diabetes mellitus.
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- 2021
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11. Reduced global longitudinal strain at rest and inadequate blood pressure response during exercise treadmill testing in male heterozygous familial hypercholesterolemia patients
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Vasiliki Vartela, Iakovos Armenis, Dimitra Leivadarou, Konstantinos Toutouzas, Konstantinos Makrilakis, George D. Athanassopoulos, George Karatasakis, Genovefa Kolovou, Sophia Mavrogeni, and Despina Perrea
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Heterozygous familial hypercholesterolemia ,Exercise treadmill test ,Coronary artery disease ,Arterial blood pressure ,Global longitudinal strain ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Background: Heterozygous familial hypercholesterolemia (heFH) is a genetic disorder leading to premature coronary artery disease (CAD). We hypothesized that the subclinical pathophysiologic consequences of hypercholesterolemia may be detected before the occurrence of clinically overt CAD by stress testing and myocardial strain imaging. Patients-methods: We evaluated the treadmill tests (ETTs) of 46 heFH men without known arterial hypertension/diabetes mellitus/vasculopathy like CAD and of 39 healthy men matched for age, baseline systolic/diastolic blood pressure (BP) and heart rate (HR), using Bruce protocol. Global longitudinal strain (GLS) of the left ventricle (LV) additionally to ejection fraction was obtained. Results: heFH men reached a significantly higher peak systolic and diastolic BP compared to controls (p = 0.002 and p
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- 2021
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12. Effect of Moderate Wine Consumption on Oxidative Stress Markers in Coronary Heart Disease Patients
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Maria Choleva, Chrysa Argyrou, Maria Detopoulou, Maria-Eleni Donta, Anastasia Gerogianni, Evanggelia Moustou, Androniki Papaemmanouil, Christina Skitsa, Genovefa Kolovou, Petros Kalogeropoulos, and Elizabeth Fragopoulou
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wine ,oxidative stress ,coronary heart disease ,oxidized guanine species ,protein carbonyls ,TBARS ,Nutrition. Foods and food supply ,TX341-641 - Abstract
Evidence from research studies reports that wine consumption is associated with lower cardiovascular disease risk, partly through the amelioration of oxidative stress. The aim of the present study was to examine the effect of regular light to moderate wine consumption from coronary heart disease (CHD) patients compared to the effect induced by alcohol intake without the presence of wine microconstituents, on oxidation-induced macromolecular damage as well as on endogenous antioxidant enzyme activity. A randomized, single-blind, controlled, three-arm parallel intervention was carried out, in which 64 CHD patients were allocated to three intervention groups. Group A consumed no alcohol, and Group B (wine) and Group C (ethanol) consumed 27 g of alcohol/day for 8 weeks. Blood and urine samples were collected at baseline and at 4 and 8 weeks. Urine oxidized guanine species levels, protein carbonyls, thiobarbituric acid substances (TBARS) levels, as well as superoxide dismutase (SOD) and glutathione peroxidase (GPx) activities, were measured. Oxidized guanine species and protein carbonyl levels were significantly increased in the ethanol group during the intervention and were significantly decreased in the wine group. These results support the idea that wine’s bioactive compounds may exert antioxidant actions that counteract the macromolecular oxidative damage induced by alcohol in CHD patients.
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- 2022
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13. Xanthomas Regression in an 8-Year-Old Boy Treated With Lomitapide
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Genovefa Kolovou, MD, PhD, Aleksandros Tsoutsinos, MD, Irene Mastorakou, MD, MSc, PhD, Sophie Mavrogeni, MD, PhD, and George Hatzigeorgiou, MD
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colesevelam ,ezetimibe ,homozygous familial hypercholesterolemia ,lomitapide ,statins ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
This case reports on an 8-year-old boy with homozygous familial hypercholesterolemia with large tuberous xanthomas over his hands, elbows, buttocks, knees, and feet. Lomitapide 40 mg daily (steadily increased) was added to his classical lipid-lowering therapy. A 50% reduction in the thickness, hardness, size, and color intensity of xanthomas was reported after 2 years of treatment. (Level of Difficulty: Intermediate.)
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- 2019
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14. Five gene variants in nonagenarians, centenarians and average individuals
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Vana Kolovou, Helen Bilianou, Vasiliki Giannakopoulou, Petros Kalogeropoulos, Constantinos Mihas, Markos Kouris, Dennis V. Cokkinos, Maria Boutsikou, Ioannis Hoursalas, Sophie Mavrogeni, Niki Katsiki, and Genovefa Kolovou
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nonagenarians ,centenarians ,single nucleotide polymorphisms ,TERT ,IGFBP3 ,FOXO3A ,ADIPOQ ,Medicine - Abstract
Introduction: Genetic factors contribute to the variation of human life span which is believed to be more profound after 85 years of age. The aim of the present study was to evaluate the frequency of 5 gene polymorphisms between nonagenarians, centenarians and average individuals. Material and methods: Single nucleotide polymorphisms (SNPs) of telomerase reverse transcriptase (TERT; rs2736098), insulin-like growth factor-1 binding protein-3 (IGFBP3; A-202C, rs2857744), fork-head box O3A (FOXO3A; rs13217795 and rs2764264) factor and adiponectin (ADIPOQ; rs2241766) were evaluated in 405 individuals: n = 256 nonagenarians and centenarians (study group) and n = 149 average lifespan individuals (control group aged 18 – < 80 years). Results: The frequency of women was significantly higher in the study group than the control group (64.5 vs. 49.7%, p = 0.004). Genotypic and allele frequencies did not differ between groups according to gender. However, in men, the frequency of TT genotype of FOXO3A; rs2764264 was higher in the study group than the control group (45.6 vs. 28.0%, p = 0.05). Overall, the frequency of the C allele of FOXO3A; rs2764264 was significantly lower in the study group than the control group (3.9 vs. 9.5%, respectively, p = 0.023). Furthermore, in the study group, the T allele was significantly more frequent in the nonagenarians (n = 239) than the centenarians (n = 17) in both FOXO3A; rs13217795 and rs2764264 (64.4 vs. 44.1%, p = 0.018 and 69.7 vs. 50.0%, p = 0.017, respectively). Conclusions: According to survival status, there is differentiation in the prevalence of both studied FOXO3A gene polymorphisms. The study group had half of the C alleles compared with the control group and centenarians less frequently had the T allele of both FOXO3A gene polymorphisms compared with nonagenarians. No difference was found between groups according to TERT, IGFBP3 and ADIPOQ gene polymorphisms. It seems that some polymorphisms may be significant in prolonging our lifespan. Nevertheless, confirmation in additional study populations is needed.
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- 2017
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15. Silent myocarditis in systemic sclerosis detected by cardiovascular magnetic resonance using Lake Louise criteria
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Sophie Mavrogeni, Loukia Koutsogeorgopoulou, Georgia Karabela, Efthymios Stavropoulos, Gikas Katsifis, John Raftakis, Sotiris Plastiras, Michel Noutsias, George Markousis-Mavrogenis, and Genovefa Kolovou
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Cardiovascular magnetic resonance ,Systemic sclerosis ,Myocarditis ,Myocardial fibrosis ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Abstract Background Systemic sclerosis (SSc) is an autoimmune disease characterized by microvascular abnormalities, inflammation and fibrosis. We hypothesized that myocarditis may be diagnosed in asymptomatic SSc, undergoing routine cardio-vascular magnetic resonance (CMR) for fibrosis assessment, using the Lake Louise criteria: T2 ratio, early (EGE) and late gadolinium enhanced (LGE) images. Methods Eighty-two asymptomatic SSc, diagnosed according to American College of Rheumatology criteria, aged 43 ± 5 yrs., 62 with diffuse (dSSc) and 20 with localized (lSSc) systemic sclerosis were evaluated by CMR, performed at 1.5 T scanner, according to Lake Louise criteria. Results CMR documented normal biventricular function in all SSc. However, 7/62 (11.2%) with dSSc and 2/20 (10%) with lSSc, had CMR signs of myocarditis according to Lake Louise criteria, without any clinical cardiac symptom. In these 9 patients, T2 ratio, EGE ratio and LGE (positive in all 9 SSc) were 2.8 ± 0.5%, 8 ± 3% and 5 ± 3% of LV mass, respectively. No correlation between CMR and blood inflammatory indices (C-reactive protein and erythrocyte sedimentation rate), cardiac troponin T, disease characteristics or type of SSc was identified. A repeat CMR at 6 months, after treatment with prednisone and azathioprine, showed normalisation of the acute inflammation CMR indices. Conclusions Silent myocarditis may be diagnosed using the Lake Louise paper criteria in SSc patients without cardiac symptoms, has no correlation with blood inflammatory indices, cardiac troponin or disease characteristics. CMR is a promising tool to diagnose silent myocarditis in SSc and monitor the response to immunosuppressive treatment.
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- 2017
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16. Magnetic resonance imaging-conditional devices: Luxury or real clinical need?
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Sophie I. Mavrogeni, George Poulos, Genovefa Kolovou, and George Theodorakis
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Cardiac magnetic resonance imaging-conditional devices ,Bradyarrythmia ,Ventricular tachycardia ,Ventricular fibrillation ,Atrioventricular block ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Although the risk of MRI scanning on patients with conventional devices is lower than initially thought, the patient's safety can only be guaranteed when using MRI-conditional devices. The most important modifications in MRI-conditional devices include a) Reduction in ferromagnetic components to reduce magnetic attraction and susceptibility artifacts; b) Replacement of the reed switch by a Hall sensor in order to avoid unpredictable reed switch behavior; c) Lead coil design to minimize lead heating and electrical current induction; d) Filter circuitry to prevent damage to the internal power supply; and e) Dedicated pacemaker programming to prevent inappropriate pacemaker inhibition and competing rhythms. Although many companies claim to have MRI-conditional devices, adoption in clinical practice is limited because a) Not all companies have MRI-conditional devices approved for both 1.5 and 3T; b) Not all companies offer the option of unlimited MRI scanning (without an exclusion zone in the thorax); c) Certain companies allow only a 30-min MRI scanning and only in afebrile patients; and d) Despite having MRI-conditional pacemakers, certain companies do not have MRI-conditional defibrillators and CRT systems. It is clear that this new technology opens the door for MRI to a growing number of patients; however, the widespread adoption of MRI-conditional devices will depend on real-life issues, such as cost, clinical indications for such a device and the permanent education of health care professionals.
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- 2017
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17. Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril
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Sophie Mavrogeni, Aikaterini Giannakopoulou, Antigoni Papavasiliou, George Markousis-Mavrogenis, Roser Pons, Evangelos Karanasios, Michel Noutsias, Genovefa Kolovou, and George Papadopoulos
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Cardiovascular magnetic resonance ,Duchenne/ Becker muscular dystrophy ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Abstract Background To evaluate cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). Methods This is a single point cross sectional study of twenty-four boys with genetically ascertained DMD, and 10 with BMD, aged 10.5 ± 1.5 years (range 9–13), were prospectively evaluated by a 1.5 T system and compared with those of age-sex matched controls. The DMD patients were divided in 2 groups. Group A (N = 12) were under treatment with both deflazacort and perindopril, while Group B (n = 12) were under treatment with deflazacort, only. BMD patients did not take any medication. Biventricular function was assessed using a standard SSFP sequence. Late gadolinium enhancement (LGE) was assessed from T1 images taken 15 min after injection of 0.2 mg/Kg gadolinium DTPA using a 3D–T1-TFE sequence. Results Group A and BMDs were asymptomatic with normal ECG, 24 h ECG recording and echocardiogram. Group B were asymptomatic but 6/12 had abnormal ECG and mildly impaired LVEF. Their 24 h ECG recording revealed supraventricular and ventricular extrasystoles (all at 12–13 yrs). LV indices in Group A and BMD did not differ from those of controls. However, LV indices in Group B were significantly impaired compared with controls, Group A and BMDs (p
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- 2017
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18. The emerging role of Cardiovascular Magnetic Resonance in the evaluation of hypertensive heart disease
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Sophie Mavrogeni, Vasiliki Katsi, Vasiliki Vartela, Michel Noutsias, George Markousis-Mavrogenis, Genovefa Kolovou, and Athanasios Manolis
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Hypertension ,Cardiovascular magnetic resonance ,ECG ,Echocardiography ,Coronary angiography ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Abstract Background Arterial hypertension is the commonest cause of cardiovascular death. It may lead to hypertensive heart disease (HHD), including heart failure (HF), ischemic heart disease (IHD) and left ventricular hypertrophy (LVH). Main body According to the 2007 ESH/ESC guidelines, the recommended imaging technique is echocardiography (echo), when a more sensitive detection of LVH than that provided by ECG, is needed. Cardiovascular Magnetic Resonance (CMR), a non-invasive, non-radiating technique, offers the following advantages, beyond echo: a) more reliable and reproducible measurements of cardiac parameters such as volumes, ejection fraction and cardiac mass b) more accurate differentiation of LVH etiology by providing information about tissue characterisation c) more accurate evaluation of myocardial ischemia, specifically if small vessels disease is present d) technique of choice for diagnosis of renovascular, aortic tree/branches lesions and quantification of aortic valve regurgitation e) technique of choice for treatment evaluation in clinical trials. The superiority of CMR against echocardiography in terms of reproducibility, operator independency, unrestricted field of view and capability of tissue characterization makes the technique ideal for evaluation of heart, quantification of aortic valve regurgitation, aorta and aortic branches. Conclusions CMR has a great potential in early diagnosis, risk stratification and treatment follow up of HHD. However, an international consensus about CMR in HHD, taking under consideration the cost-benefit ratio, expertise and availability, is still warranted.
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- 2017
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19. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits
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Anne E. Justice, Thomas W. Winkler, Mary F. Feitosa, Misa Graff, Virginia A. Fisher, Kristin Young, Llilda Barata, Xuan Deng, Jacek Czajkowski, David Hadley, Julius S. Ngwa, Tarunveer S. Ahluwalia, Audrey Y. Chu, Nancy L. Heard-Costa, Elise Lim, Jeremiah Perez, John D. Eicher, Zoltán Kutalik, Luting Xue, Anubha Mahajan, Frida Renström, Joseph Wu, Qibin Qi, Shafqat Ahmad, Tamuno Alfred, Najaf Amin, Lawrence F. Bielak, Amelie Bonnefond, Jennifer Bragg, Gemma Cadby, Martina Chittani, Scott Coggeshall, Tanguy Corre, Nese Direk, Joel Eriksson, Krista Fischer, Mathias Gorski, Marie Neergaard Harder, Momoko Horikoshi, Tao Huang, Jennifer E. Huffman, Anne U. Jackson, Johanne Marie Justesen, Stavroula Kanoni, Leena Kinnunen, Marcus E. Kleber, Pirjo Komulainen, Meena Kumari, Unhee Lim, Jian'an Luan, Leo-Pekka Lyytikäinen, Massimo Mangino, Ani Manichaikul, Jonathan Marten, Rita P. S. Middelberg, Martina Müller-Nurasyid, Pau Navarro, Louis Pérusse, Natalia Pervjakova, Cinzia Sarti, Albert Vernon Smith, Jennifer A. Smith, Alena Stančáková, Rona J. Strawbridge, Heather M. Stringham, Yun Ju Sung, Toshiko Tanaka, Alexander Teumer, Stella Trompet, Sander W. van der Laan, Peter J. van der Most, Jana V. Van Vliet-Ostaptchouk, Sailaja L. Vedantam, Niek Verweij, Jacqueline M. Vink, Veronique Vitart, Ying Wu, Loic Yengo, Weihua Zhang, Jing Hua Zhao, Martina E. Zimmermann, Niha Zubair, Gonçalo R. Abecasis, Linda S. Adair, Saima Afaq, Uzma Afzal, Stephan J. L. Bakker, Traci M. Bartz, John Beilby, Richard N. Bergman, Sven Bergmann, Reiner Biffar, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Daniele Braga, Brendan M. Buckley, Steve Buyske, Harry Campbell, John C. Chambers, Francis S. Collins, Joanne E. Curran, Gert J. de Borst, Anton J. M. de Craen, Eco J. C. de Geus, George Dedoussis, Graciela E. Delgado, Hester M. den Ruijter, Gudny Eiriksdottir, Anna L. Eriksson, Tõnu Esko, Jessica D. Faul, Ian Ford, Terrence Forrester, Karl Gertow, Bruna Gigante, Nicola Glorioso, Jian Gong, Harald Grallert, Tanja B. Grammer, Niels Grarup, Saskia Haitjema, Göran Hallmans, Anders Hamsten, Torben Hansen, Tamara B. Harris, Catharina A. Hartman, Maija Hassinen, Nicholas D. Hastie, Andrew C. Heath, Dena Hernandez, Lucia Hindorff, Lynne J. Hocking, Mette Hollensted, Oddgeir L. Holmen, Georg Homuth, Jouke Jan Hottenga, Jie Huang, Joseph Hung, Nina Hutri-Kähönen, Erik Ingelsson, Alan L. James, John-Olov Jansson, Marjo-Riitta Jarvelin, Min A. Jhun, Marit E. Jørgensen, Markus Juonala, Mika Kähönen, Magnus Karlsson, Heikki A. Koistinen, Ivana Kolcic, Genovefa Kolovou, Charles Kooperberg, Bernhard K. Krämer, Johanna Kuusisto, Kirsti Kvaløy, Timo A. Lakka, Claudia Langenberg, Lenore J. Launer, Karin Leander, Nanette R. Lee, Lars Lind, Cecilia M. Lindgren, Allan Linneberg, Stephane Lobbens, Marie Loh, Mattias Lorentzon, Robert Luben, Gitta Lubke, Anja Ludolph-Donislawski, Sara Lupoli, Pamela A. F. Madden, Reija Männikkö, Pedro Marques-Vidal, Nicholas G. Martin, Colin A. McKenzie, Barbara McKnight, Dan Mellström, Cristina Menni, Grant W. Montgomery, AW (Bill) Musk, Narisu Narisu, Matthias Nauck, Ilja M. Nolte, Albertine J. Oldehinkel, Matthias Olden, Ken K. Ong, Sandosh Padmanabhan, Patricia A. Peyser, Charlotta Pisinger, David J. Porteous, Olli T. Raitakari, Tuomo Rankinen, D. C. Rao, Laura J. Rasmussen-Torvik, Rajesh Rawal, Treva Rice, Paul M. Ridker, Lynda M. Rose, Stephanie A. Bien, Igor Rudan, Serena Sanna, Mark A. Sarzynski, Naveed Sattar, Kai Savonen, David Schlessinger, Salome Scholtens, Claudia Schurmann, Robert A. Scott, Bengt Sennblad, Marten A. Siemelink, Günther Silbernagel, P Eline Slagboom, Harold Snieder, Jan A. Staessen, David J. Stott, Morris A. Swertz, Amy J. Swift, Kent D. Taylor, Bamidele O. Tayo, Barbara Thorand, Dorothee Thuillier, Jaakko Tuomilehto, Andre G. Uitterlinden, Liesbeth Vandenput, Marie-Claude Vohl, Henry Völzke, Judith M. Vonk, Gérard Waeber, Melanie Waldenberger, R. G. J. Westendorp, Sarah Wild, Gonneke Willemsen, Bruce H. R. Wolffenbuttel, Andrew Wong, Alan F. Wright, Wei Zhao, M Carola Zillikens, Damiano Baldassarre, Beverley Balkau, Stefania Bandinelli, Carsten A. Böger, Dorret I. Boomsma, Claude Bouchard, Marcel Bruinenberg, Daniel I. Chasman, Yii-DerIda Chen, Peter S. Chines, Richard S. Cooper, Francesco Cucca, Daniele Cusi, Ulf de Faire, Luigi Ferrucci, Paul W. Franks, Philippe Froguel, Penny Gordon-Larsen, Hans- Jörgen Grabe, Vilmundur Gudnason, Christopher A. Haiman, Caroline Hayward, Kristian Hveem, Andrew D. Johnson, J Wouter Jukema, Sharon L. R. Kardia, Mika Kivimaki, Jaspal S. Kooner, Diana Kuh, Markku Laakso, Terho Lehtimäki, Loic Le Marchand, Winfried März, Mark I. McCarthy, Andres Metspalu, Andrew P. Morris, Claes Ohlsson, Lyle J. Palmer, Gerard Pasterkamp, Oluf Pedersen, Annette Peters, Ulrike Peters, Ozren Polasek, Bruce M. Psaty, Lu Qi, Rainer Rauramaa, Blair H. Smith, Thorkild I. A. Sørensen, Konstantin Strauch, Henning Tiemeier, Elena Tremoli, Pim van der Harst, Henrik Vestergaard, Peter Vollenweider, Nicholas J. Wareham, David R. Weir, John B. Whitfield, James F. Wilson, Jessica Tyrrell, Timothy M. Frayling, Inês Barroso, Michael Boehnke, Panagiotis Deloukas, Caroline S. Fox, Joel N. Hirschhorn, David J. Hunter, Tim D. Spector, David P. Strachan, Cornelia M. van Duijn, Iris M. Heid, Karen L. Mohlke, Jonathan Marchini, Ruth J. F. Loos, Tuomas O. Kilpeläinen, Ching-Ti Liu, Ingrid B. Borecki, Kari E. North, and L Adrienne Cupples
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Science - Abstract
Genome-wide association studies (GWAS) have become a key tool to discover genetic markers for complex traits; however, environmental factors that interact with genes are rarely considered. Here, the authors conduct a GWAS of obesity traits, and find that smoking may alter genetic susceptibilities.
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- 2017
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20. CMR feature tracking in cardiac asymptomatic systemic sclerosis: Clinical implications.
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Konstantinos Bratis, Anthony Lindholm, Roger Hesselstrand, Håkan Arheden, Georgia Karabela, Efthymios Stavropoulos, Gikas Katsifis, Genovefa Kolovou, George D Kitas, Petros P Sfikakis, Loukia Koutsogeorgopoulou, Sophie Mavrogeni, and Ellen Ostenfeld
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Medicine ,Science - Abstract
BackgroundImpaired myocardial deformation has been sporadically described in cardiac asymptomatic systemic sclerosis (SSc). We aimed to study myocardial deformation indices in cardiac asymptomatic SSc patients using cardiac magnetic resonance feature tracking (CMR-FT) and correlate these findings to the phenotypic and autoimmune background.MethodsFifty-four cardiac asymptomatic SSc patients (44 females, 56±13 years), with normal routine cardiac assessment and CMR evaluation, including cine and late gadolinium enhancement (LGE) images, were included. SSc patients were compared to 21 sex- and age- matched healthy controls (17 females; 54±19 years). For CMR-FT analysis, a mid-ventricular slice for LV peak systolic radial and circumferential strain and a 4-chamber view for LV/RV peak systolic longitudinal strain were used.ResultsTwenty-four patients had diffuse cutaneous SSc and 30 limited cutaneous SSc. Thirteen patients had digital ulcers. Median disease duration was 3.6 years. LV ejection fraction was higher in SSc patients compared to controls (62±6% vs. 59±5%, p = 0.01). Four patients had no LGE examination; in the remaining patients LGE was absent in 74%, while 18% had RV insertion fibrosis and 8% evidence of subendocardial infarction. LV longitudinal strain differed in those with insertion fibrosis (-18.0%) and infarction (-16.7%) compared to no fibrosis (-20.3%, p = 0.04). Patients with SSc had lower RV longitudinal strain and strain rate compared to controls (pConclusionsIn cardiac asymptomatic SSc patients with normal routine functional indices, CMR-FT identifies subclinical presence of insertion fibrosis and/or myocardial infarction by impaired LV longitudinal strain. RV derived longitudinal indices were impaired in the patient group. CMR FT indices did not correlate to the patients' phenotypic and autoimmune features.
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- 2019
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21. Ventricular Tachycardia Has Mainly Non-Ischaemic Substrates in Patients with Autoimmune Rheumatic Diseases and a Preserved Ejection Fraction
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George Markousis-Mavrogenis, George Poulos, Theodoros Dimitroulas, Aikaterini Giannakopoulou, Clio Mavragani, Vasiliki Vartela, Dionysia Manolopoulou, Genovefa Kolovou, Paraskevi Voulgari, Petros P. Sfikakis, George D. Kitas, and Sophie I. Mavrogeni
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oedema ,fibrosis ,cardiovascular magnetic resonance ,rhythm disturbance ,myocarditis ,ischaemia ,Medicine (General) ,R5-920 - Abstract
Non-sustained ventricular tachycardia (NSVT) is a potentially lethal arrhythmia that is most commonly attributed to coronary artery disease. We hypothesised that among patients with NSVT and preserved ejection fraction, cardiovascular magnetic resonance (CMR) would identify a different proportion of ischaemic/non-ischaemic arrhythmogenic substrates in those with and without autoimmune rheumatic diseases (ARDs). In total, 80 consecutive patients (40 with ARDs, 40 with non-ARD-related cardiac pathology) with NSVT in the past 15 days and preserved left ventricular ejection fraction were examined using a 1.5-T system. Evaluated parameters included biventricular volumes/ejection fractions, T2 signal ratio, early/late gadolinium enhancement (EGE/LGE), T1 and T2 mapping and extracellular volume fraction (ECV). Mean age did not differ across groups, but patients with ARDs were more often women (32 (80%) vs. 15 (38%), p < 0.001). Biventricular systolic function, T2 signal ratio and EGE and LGE extent did not differ significantly between groups. Patients with ARDs had significantly higher median native T1 mapping (1078.5 (1049.0–1149.0) vs. 1041.5 (1014.0–1079.5), p = 0.003), higher ECV (31.0 (29.0–32.0) vs. 28.0 (26.5–30.0), p = 0.003) and higher T2 mapping (57.5 (54.0–61.0) vs. 52.0 (48.0–55.5), p = 0.001). In patients with ARDs, the distribution of cardiac fibrosis followed a predominantly non-ischaemic pattern, with ischaemic patterns being more common in those without ARDs (p < 0.001). After accounting for age and cardiovascular comorbidities, most findings remained unaffected, while only tissue characterisation indices remained significant after additionally correcting for sex. Patients with ARDs had a predominantly non-ischaemic myocardial scar pattern and showed evidence of diffuse inflammatory/ischaemic changes (elevated native T1-/T2-mapping and ECV values) independent of confounding factors.
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- 2021
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22. A Case Series Assessing the Effects of Lomitapide on Carotid Intima-Media Thickness in Adult Patients with Homozygous Familial Hypercholesterolaemia in a Real-World Setting
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Dirk J. Blom, Daniel Gaudet, Robert A. Hegele, Dharmesh S. Patel, Jaimini Cegla, Genovefa Kolovou, and Luis Masana Marin
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Pharmacology (medical) ,General Medicine - Published
- 2022
23. The Double-Edged Sword of T1-Mapping in Systemic Sclerosis—A Comparison with Infectious Myocarditis Using Cardiovascular Magnetic Resonance
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George Markousis-Mavrogenis, Loukia Koutsogeorgopoulou, Gikas Katsifis, Theodoros Dimitroulas, Genovefa Kolovou, George D. Kitas, Petros P. Sfikakis, and Sophie I. Mavrogeni
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scleroderma ,cardiovascular magnetic resonance ,myocardial fibrosis ,myocardial edema ,parametric ,T2-mapping ,Medicine (General) ,R5-920 - Abstract
Aims: T1-mapping is considered a surrogate marker of acute myocardial inflammation. However, in diffuse cutaneous systemic sclerosis (dcSSc) this might be confounded by coexisting myocardial fibrosis. We hypothesized that T1-based indices should not by themselves be considered as indicators of myocardial inflammation in dcSSc patients. Methods/Results: A cohort of 59 dcSSc and 34 infectious myocarditis patients was prospectively evaluated using a 1.5-Tesla system for an indication of suspected myocardial inflammation and was compared with 31 healthy controls. Collectively, 33 (97%) and 57 (98%) of myocarditis and dcSSc patients respectively had ≥1 pathologic T2-based index. However, 33 (97%) and 45 (76%) of myocarditis and dcSSc patients respectively had ≥1 pathologic T2-based index. T2-signal ratio was significantly higher in myocarditis patients compared with dcSSc patients (2.5 (0.6) vs. 2.1 (0.4), p < 0.001). Early gadolinium enhancement, late gadolinium enhancement and T2-mapping did not differ significantly between groups. However, both native T1-mapping and extracellular volume fraction were significantly lower in myocarditis compared with dcSSc patients (1051.0 (1027.0, 1099.0) vs. 1120.0 (1065.0, 1170.0), p < 0.001 and 28.0 (26.0, 30.0) vs. 31.5 (30.0, 33.0), p < 0.001, respectively). The original Lake Louise criteria (LLc) were positive in 34 (100%) myocarditis and 40 (69%) dcSSc patients, while the updated LLc were positive in 32 (94%) and 44 (76%) patients, respectively. Both criteria had good agreement with greater but nonsignificant discordance in dcSSc patients. Conclusions: ~25% of dcSSc patients with suspected myocardial inflammation had no CMR evidence of acute inflammatory processes. T1-based indices should not be used by themselves as surrogates of acute myocardial inflammation in dcSSc patients.
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- 2020
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24. The need to improve cardiac care after acute coronary syndrome
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Genovefa Kolovou
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Patients who experience acute coronary syndrome (ACS) are at increased risk of new cardiovascular (CV) events. The main strategies for prevention of recurrence of CV events is the protection from ruptured plaque, thrombus formation, occlusion or downstream embolization in the coronary artery. The percutaneous coronary intervention (PCI) with stenting and anticoagulants, 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase inhibitors (HMGCoAi, commonly called statins) and neurohormonal inhibition, has led to a notable decrease in 1-year mortality events. Today it is well documented that all patients with an ACS should be treated early, intensively and continuously for lowering the LDL-C values to the recommended goals. Regularly interviewing by trained health care personnel and post-discharge follow-up of patients after ACS seems to be more effective concerning adherence to statin for achieving LDL-C treatment goals compared with the standard of care. Keywords: Acute coronary syndrome, Low density lipoprotein cholesterol, Statins, Adherence
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- 2019
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25. Prevalence of Non-coronary Heart Disease in Patients with Familial Hypercholesterolemia: An Analysis from the HELLAS-FH
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D. Agapakis, Genovefa Kolovou, Chrysoula Boutari, Vasileios Kotsis, Konstantinos Tziomalos, Christina Antza, Ioannis Skoumas, Panagiotis Anagnostis, Michalis Doumas, George Liamis, Emmanuel I. Skalidis, Charalambos Koumaras, Christos V. Rizos, Iosif Koutagiar, E. Bilianou, Loukianos S. Rallidis, Evangelos Liberopoulos, G. Sfikas, and Evangelos A. Zacharis
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Adult ,Male ,medicine.medical_specialty ,Population ,Coronary Disease ,Familial hypercholesterolemia ,Carotid Intima-Media Thickness ,Hyperlipoproteinemia Type II ,Risk Factors ,Interquartile range ,Carotid artery disease ,medicine.artery ,Internal medicine ,Drug Discovery ,Prevalence ,medicine ,Humans ,Common carotid artery ,education ,Aged ,Pharmacology ,education.field_of_study ,business.industry ,Middle Aged ,medicine.disease ,Cross-Sectional Studies ,Intima-media thickness ,Aortic valve stenosis ,Cardiology ,business ,Kidney disease - Abstract
Aims: Despite the established link between familial hypercholesterolemia (FH) and increased risk of coronary heart disease (CHD), its association with other common atherosclerotic and metabolic diseases has not been extensively studied. The aim of this study was to report the prevalence of peripheral arterial disease (PAD) [i.e., common carotid artery disease (CCAD) and lower extremity arterial disease (LEAD)], aortic valve stenosis, chronic kidney disease (CKD) and non-alcoholic fatty liver disease (NAFLD) in patients with FH. Materials & Methods: This was a cross-sectional study retrieving data from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH). Results: A total of 1,633 adult patients (850 males) with heterozygous FH (HeFH) were included (mean age 51.3±14.6 years at registration and 44.3±15.9 years at diagnosis). Any common carotid artery stenosis (CCAS) was diagnosed in 124 out of 569 patients with available related data (21.8%), while the prevalence of CCAD (defined as a CCAS ≥50%) was 4.2%. The median (interquartile range - IQR) CCAS was 30% (20-40), whereas the median (IQR) carotid intima-media thickness (CIMT) was 0.7 (0.1-1.4) mm. LEAD was reported in 44 patients (prevalence 2.7%). The prevalence of aortic valve stenosis and CKD was 2.0% and 6.4%, respectively. NAFLD was present in 24% of study participants. Conclusions: HeFH is associated with a relatively high prevalence of any CCAS and CCAD. The prevalence of LEAD, CKD and aortic valve stenosis was relatively low, whereas the prevalence of NAFLD was similar to that of the general population.
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- 2021
26. The role of magnetic resonance imaging in the evaluation of transfusional iron overload in myelodysplastic syndromes
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Emmanouil Petrou, Sophie Mavrogeni, Vasiliki Karali, Genovefa Kolovou, Marie-Christine Kyrtsonis, Petros P. Sfikakis, and Panayiotis Panayiotidis
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Myelodysplastic syndromes ,Blood transfusion ,Iron overload ,Magnetic ,Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Myelodysplastic syndromes represent a group of heterogeneous hematopoietic neoplasms derived from an abnormal multipotent progenitor cell, characterized by a hyperproliferative bone marrow, dysplasia of the cellular hemopoietic elements and ineffective erythropoiesis. Anemia is a common finding in myelodysplastic syndrome patients, and blood transfusions are the only therapeutic option in approximately 40% of cases. The most serious side effect of regular blood transfusion is iron overload. Currently, cardiovascular magnetic resonance using T2 is routinely used to identify patients with myocardial iron overload and to guide chelation therapy, tailored to prevent iron toxicity in the heart. This is a major validated non-invasive measure of myocardial iron overloading and is superior to surrogates such as serum ferritin, liver iron, ventricular ejection fraction and tissue Doppler parameters. The indication for iron chelation therapy in myelodysplastic syndrome patients is currently controversial. However, cardiovascular magnetic resonance may offer an excellent non-invasive, diagnostic tool for iron overload assessment in myelodysplastic syndromes. Further studies are needed to establish the precise indications of chelation therapy and the clinical implications of this treatment on survival in myelodysplastic syndromes.
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- 2015
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27. CYP3A5 genotyping for assessing the efficacy of treatment with simvastatin and atorvastatin
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Genovefa Kolovou, Vana Kolovou, Georgia Ragia, Constantinos Mihas, Olga Diakoumakou, Ioannis Vasiliadis, Sophie Mavrogeni, Vassiliki Vartela, and Vangelis G Manolopoulos
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atorvastatin ,cholesterol ,CYP3A5 gene polymorphism ,simvastatin ,Genetics ,QH426-470 - Abstract
In this work, we examined the impact of polymorphism in the cytochrome P450 (CYP) 3A5 gene, CYP3A5*1 (6986A > G, rs 776746), on the reduction in the lipid levels caused by simvastatin and atorvastatin. We studied 350 hyperlipidemic patients who received 10-40 mg of atorvastatin (n = 175) or simvastatin (n = 175) daily. Genotyping for CYP3A5 was done by PCR-RFLP analysis. Differences in the lipid profile before and after treatment were expressed as the % difference. The frequency of CYP3A5 polymorphism was 13.4% for heterozygotes and 86.6% for homozygotes. Comparison of the responses to same dose of each drug showed that the highest % difference was associated with total cholesterol (TC) in subjects receiving atorvastatin 40 mg compared with simvastatin 40 mg (p = 0.048). However, comparison of the responses to equivalent doses of atorvastatin vs. simvastatin revealed no difference in the % change in any of the lipid parameters examined. In individuals with the same CYP3A5 genotype, a head to head comparison of the efficacy of the same dose of simvastatin vs. atorvastatin revealed an advantage for atorvastatin. For equivalent doses of atorvastatin vs. simvastatin there was no difference in the % change in any of the lipid parameters examined. Within the same genotype there was a significant difference in the % change related to the drug treatment.
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- 2015
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28. Familial hypercholesterolemia. Perspectives on FH registry systems
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Niki Pavlatou, Olga Kadda, Christina Marvaki, and Genovefa Kolovou
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Cultural Studies ,registry systems ,perspectives ,Familial hypercholesterolemia ,Religious studies - Abstract
Familial Hypercholesterolemia (FH) is a genetic cause of premature Cardiovascular Disease (CVD) which is the leading cause of morbidity and mortality worldwide. In Greece, it is estimated that 90% of patients remain undiagnosed. Patients with FH are at high risk for cardiovascular events, peripheral arterial disease, stroke and death at a young age. Therefore, early detection of these is important for the implementation of appropriate preventive measures. Patient medical records are a powerful tool for recording and monitoring the disease and promoting clinical practices, thus helping to improve outcomes and reduce the cost of healthcare. Simultaneously with the registers, patient-centered management, multidisciplinary teamwork, involvement of primary care physicians, patient networks and support teams are required. Of most importance is the Greek online register system of people with familial hypercholesterolemia, by the Hellenic Atherosclerosis Society in collaboration with major hospital centers and the Hellenic College of Atherosclerosis Treatment registration system in the community. The purpose is to find people who are suffering from FH, to diagnose, to educate them and to put them under treatment and follow-up. In conclusion, effective care of patients with dyslipidemia requires: a) detailed evaluation of medical history, b) clinical and laboratory tests, and c) patient education programs regarding lifestyle changes and disease management. The above strategies of care will help reduce time and cost of medical treatment, obtain better clinical outcome and improve patients’ quality of life.
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- 2022
29. Cardiovascular adaptations and inflammation in marathon runners
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Konstantinos, Tsarouhas, Christina, Tsitsimpikou, Antonios, Samaras, Christos, Saravanis, Genovefa, Kolovou, Flora, Bacopoulou, Demetrios A, Spandidos, and Dimitrios, Kouretas
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Cancer Research ,Immunology and Microbiology (miscellaneous) ,General Medicine - Abstract
Long-distance running has become increasingly popular. Cardiovascular adaptations to exercise are relevant to the specific sports and this is also the case in long-distance running. Significant changes regarding inflammatory and endothelial markers along with indices of oxidative stress are observed in marathon and ultra-marathon runners. However, data linking inflammatory marker levels with cardiovascular adaptations to marathon running are limited. The aim of the present study was to describe the cardiovascular adaptations observed in a group of ultra-marathon runners and the association with a series of inflammatory and endothelial markers measured in their plasma. A total of 43 ultra-marathon runners were assessed by echocardiography and a treadmill exercise test. Blood samples were used for tumor necrosis factor-α (TNF-α), asymmetric dimethylarginine (ADMA), interleukin (IL)-6, IL-10, C-reactive protein, creatine phosphokinase (CPK) and oxidative stress indice measurements. Ultra-marathon runners who presented augmented left ventricular (LV) end diastolic diameters55 mm had higher ADMA values (1.07±0.07 vs. 0.99±0.08 µmol/ml, P0.01) and lower CPK values (192.5±21.3 vs. 219.1±37.3 mg/dl, P0.05) compared with those with normal LV diameters. Runners with a moderate and severe abnormal indexed LV mass131 g/m
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- 2022
30. Efficacy and safety of lomitapide in homozygous familial hypercholesterolaemia: the pan-European retrospective observational study
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d'Erasmo, Laura, Steward, Kim, Cefalù, Angelo Baldassare, Di Costanzo, Alessia, Boersma, Eric, Bini, Simone, Arca, Marcello, van Lennep, Jeanine Roeters, Antonina Giammanco, Maurizio Averna, Gabriella Iannuzzo, Giuliana Fortunato, Marco Gentile, Arturo Puja, Tiziana Montalcini, Chiara Pavanello, Laura Calabresi, Giovanni Battista Vigna, Marco Bucci, Katia Bonomo, Fabio Nota, Tiziana Sampietro, Francesco Sbrana, Patrizia Suppressa, Carlo Sabbà, Fabio Fimiani, Arturo Cesaro, Paolo Calabrò, Fulvio Ventura, Sergio D’Addato, Livia Pisciotta, Stefano Bertolini, Genovefa Kolovou, Evangelos Liberopoulos, Eugene Daphnis, Joost Rutten, Anja Vogt, Jaimini Cegla, Shahenaz Walji, Meral Kayikcioglu, José Real, Sergio Martínez-Hervás, Avishay Ellis, Karin Littmann, D'Erasmo, Laura, Baldassare Cefalù, Angelo, Di Costanzo, Alessia, Bini, Simone, Giammanco, Antonina, Averna, Maurizio, Iannuzzo, Gabriella, Fortunato, Giuliana, Gentile, Marco, Puja, Arturo, Montalcini, Tiziana, Pavanello, Chiara, Calabresi, Laura, Battista Vigna, Giovanni, Bucci, Marco, Bonomo, Katia, Nota, Fabio, Sampietro, Tiziana, Sbrana, Francesco, Suppressa, Patrizia, Sabbà, Carlo, Fimiani, Fabio, Cesaro, Arturo, Calabrò, Paolo, Ventura, Fulvio, D'Addato, Sergio, Pisciotta, Livia, Bertolini, Stefano, Arca, Marcello, Kolovou, Genovefa, Liberopoulos, Evangelo, Daphnis, Eugene, Roeters van Lennep, Jeanine, Rutten, Joost, Boersma, Eric, Steward, Kim, Vogt, Anja, Cegla, Jaimini, Walji, Shahenaz, Kayikcioglu, Meral, Real, José, Martínez-Hervás, Sergio, Ellis, Avishay, Littmann, Karin, Internal Medicine, Cardiology, d'Erasmo, Laura, Cefalù, Angelo Baldassare, and van Lennep, Jeanine Roeters, Antonina Giammanco, Maurizio Averna, Gabriella Iannuzzo, Giuliana Fortunato, Marco Gentile, Arturo Puja, Tiziana Montalcini, Chiara Pavanello, Laura Calabresi, Giovanni Battista Vigna, Marco Bucci, Katia Bonomo, Fabio Nota, Tiziana Sampietro, Francesco Sbrana, Patrizia Suppressa, Carlo Sabbà, Fabio Fimiani, Arturo Cesaro, Paolo Calabrò, Fulvio Ventura, Sergio D’Addato, Livia Pisciotta, Stefano Bertolini, Genovefa Kolovou, Evangelos Liberopoulos, Eugene Daphnis, Joost Rutten, Anja Vogt, Jaimini Cegla, Shahenaz Walji, Meral Kayikcioglu, José Real, Sergio Martínez-Hervás, Avishay Ellis, Karin Littmann
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Adult ,Homozygous Familial Hypercholesterolemia ,Settore MED/09 - Medicina Interna ,Epidemiology ,Anticholesteremic Agents ,Homozygote ,Medium-term efficacy ,Cholesterol, LDL ,Medium-term safety ,Benzimidazole ,Lomitapide ,atherosclerosis ,lomitapide ,medium-term efficacy ,medium-term safety ,Hyperlipoproteinemia Type II ,Homozygous familial hypercholesterolaemia ,Retrospective Studie ,Atherosclerosi ,Anticholesteremic Agent ,Humans ,Benzimidazoles ,Cardiology and Cardiovascular Medicine ,Retrospective Studies ,Human - Abstract
Aims Lomitapide is a lipid-lowering agent indicated as an adjunct therapy for adult homozygous familial hypercholesterolaemia (HoFH). This study evaluated the medium-term effectiveness and safety of lomitapide in a large cohort of HoFH patients in Europe. Methods and results In a multicentre retrospective, observational study including 75 HoFH patients treated with lomitapide in a real-world clinical setting from 9 European countries, low-density lipoprotein cholesterol (LDL-C) changes, adverse events (AEs), and major adverse cardiovascular events (MACE) were assessed. After a median 19 months (interquartile range 11–41 months) of treatment with a mean dosage of 20 mg of lomitapide. Low-density lipoprotein cholesterol decreased by 60%, from baseline 280.5 mg/dL (191.8–405.0 mg/dL) to 121.6 mg/dL (61.0–190.5 mg/dL). At the last visit, 32.0% of patients achieved LDL-C Conclusion In this medium-term real-world experience, lomitapide proved to be very effective in reducing LDL-C in HoFH. Gastrointestinal AEs were common, but liver safety was reassuring with no sign of increased risk of liver fibrosis. A signal of cardiovascular protection was also observed.
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- 2022
31. Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
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Marcello Arca, Maurizio Averna, Stefano Bertolini, Simone Bini, Eric Boersma, Katia Bonomo, Marco Bucci, Laura Calabresi, Paolo Calabrò, Angelo Baldassare Cefalu', Jaimini Cegla, Arturo Cesaro, Sergio D'Addato, Eugene Daphnis, Alessia Di Costanzo, Laura D'Erasmo, Maria Donata Di Taranto, Avishay Ellis, Fabio Fimiani, Giuliana Fortunato, Antonina Giammanco, Marco Gentile, Gabriella Iannuzzo, Meral Kayikcioglu, Genovefa Kolovou, Evangelos Liberopoulos, Karin Littmann, Sergio Martínez-Hervás, Tiziana Montalcini, Fabio Nota, Chiara Pavanello, Livia Pisciotta, Arturo Puja, Giovanni José Real, Jeanine Roeters van Lennep, Joost Rutten, Carlo Sabbà, Tiziana Sampietro, Francesco Sbrana, Kim Steward, Patrizia Suppressa, Fulvio Ventura, Battista Vigna, Anja Vogt, Shahenaz Walji, Marcello Arca, Maurizio Averna, Stefano Bertolini, Simone Bini, Eric Boersma, Katia Bonomo, Marco Bucci, Laura Calabresi, Paolo Calabrò, Angelo Baldassare Cefalu', Jaimini Cegla, Arturo Cesaro, Sergio D'Addato, Eugene Daphnis, Alessia Di Costanzo, Laura D'Erasmo, Maria Donata Di Taranto, Avishay Ellis, Fabio Fimiani, Giuliana Fortunato, Antonina Giammanco, Marco Gentile, Gabriella Iannuzzo, Meral Kayikcioglu, Genovefa Kolovou, Evangelos Liberopoulos, Karin Littmann, Sergio Martínez-Hervás, Tiziana Montalcini, Fabio Nota, Chiara Pavanello, Livia Pisciotta, Arturo Puja, Giovanni José Real, Jeanine Roeters van Lennep, Joost Rutten, Carlo Sabbà, Tiziana Sampietro, Francesco Sbrana, Kim Steward, Patrizia Suppressa, Fulvio Ventura, Battista Vigna, Anja Vogt, Shahenaz Walji, and Internal Medicine
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safety ,lomitapide ,long-term ,Settore MED/09 - Medicina Interna ,efficacy ,rare disease ,Real-world study ,SDG 3 - Good Health and Well-being ,Settore BIO/14 - Farmacologia ,Genetics ,Molecular Medicine ,LDL-C ,autosomal recessive hypercholesterolaemia ,Genetics (clinical) - Abstract
Backgroundand aim: Autosomal recessive hypercholesterolemia (ARH) is a rare autosomal recessive disorder of low-density lipoprotein (LDL) metabolism caused by pathogenic variants in the LDLRAP1 gene. Like homozygous familial hypercholesterolemia, ARH is resistant to conventional LDL-lowering medications and causes a high risk of atherosclerotic cardiovascular diseases (ASCVDs) and aortic valve stenosis. Lomitapide is emerging as an efficacious therapy in classical HoFH, but few data are available for ARH.Results: This is a subanalysis carried out on nine ARH patients included in the Pan-European Lomitapide Study. The age at starting lomitapide was 46 (interquartile range (IQR), 39.0–65.5) years, with a median treatment duration of 31.0 (IQR 14.0–40.5) months. At baseline, four (44.4%) patients had hypertension, one (11.1%) had diabetes mellitus, two (22.2%) were active smokers, and five (55.5%) reported ASCVD. The baseline LDL-C was 257.0 (IQR, 165.3–309.2) mg/dL. All patients were on statins plus ezetimibe, three were receiving Lipoprotein apheresis (LA), and one was also receiving proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i). The addition of lomitapide (mean dose, 10 mg) resulted in the achievement of a median on-treatment LDL-C of 101.7 mg/dL (IQR, 71.3–138.3; 60.4% reduction from baseline), with a best LDL-C value of 68.0 mg/dL (IQR, 43.7–86.7; 73.5% reduction from baseline). During follow-up, one patient stopped both PCSK9i and LA. Recurrence of ASCVD events was reported in one patient. The median on-treatment aspartate transaminase and alanine transaminase values were 31.1 (IQR, 22.6–48.3) U/L and 31.1 (IQR, 27.2–53.8) U/L, respectively. Among six ARH patients with available fibroscan examination, liver stiffness values recorded at the last visit were within the normal range (median, 4.7 KPa; IQR, 3.6–5.3 KPa).Conclusion: Lomitapide is effective and safe in ARH therapy as well as in classical HoFH.
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- 2022
32. Lipoprotein apheresis: a Hellenic consensus on its clinical use
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Evangelos Liberopoulos, Eirini Grapsa, Helen Bilianou, Loukianos S. Rallidis, Charalambos Vlachopoulos, Genovefa Kolovou, Vana Kolovou, Ioannis Skoumas, Georgios Goumas, Dimitris J. Richter, Sophie Mavrogieni, Anastasia Garoufi, Stefanos G. Foussas, Haralampos J. Milionis, Georgios Karavolias, Andreas Melidonis, and Dimitris Tousoulis
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medicine.medical_specialty ,Consensus ,business.industry ,Lipoproteins ,MEDLINE ,Treatment Outcome ,RC666-701 ,Internal medicine ,Blood Component Removal ,medicine ,Humans ,Diseases of the circulatory (Cardiovascular) system ,Cardiology and Cardiovascular Medicine ,business ,Lipoprotein apheresis ,Biomarkers - Published
- 2021
33. Evaluating the glucose raising effect of established loci via a genetic risk score.
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Eirini Marouli, Stavroula Kanoni, Vasiliki Mamakou, Sophie Hackinger, Lorraine Southam, Bram Prins, Angela Rentari, Maria Dimitriou, Eleni Zengini, Fragiskos Gonidakis, Genovefa Kolovou, Vassilis Kontaxakis, Loukianos Rallidis, Nikolaos Tentolouris, Anastasia Thanopoulou, Klea Lamnissou, George Dedoussis, Eleftheria Zeggini, and Panagiotis Deloukas
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Medicine ,Science - Abstract
Recent genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) associated with glucose levels. We tested the hypothesis here whether the cumulative effect of glucose raising SNPs, assessed via a score, is associated with glucose levels. A total of 1,434 participants of Greek descent from the THISEAS study and 1,160 participants form the GOMAP study were included in this analysis. We developed a genetic risk score (GRS), based on the known glucose-raising loci, in order to investigate the cumulative effect of known glucose loci on glucose levels. In the THISEAS study, the GRS score was significantly associated with increased glucose levels (mmol/L) (β ± SE: 0.024 ± 0.004, P = 8.27e-07). The effect of the genetic risk score was also significant in the GOMAP study (β ± SE: 0.011 ± 0.005, P = 0.031). In the meta-analysis of the two studies both scores were significantly associated with higher glucose levels GRS: β ± SE: 0.019 ± 0.003, P = 1.41e-09. Also, variants at the SLC30A8, PROX1, MTNR1B, ADRA2A, G6PC2, LPIN3 loci indicated nominal evidence for association with glucose levels (p < 0.05). We replicate associations of the established glucose raising variants in the Greek population and confirm directional consistency of effects (binomial sign test p = 6.96e-05). We also demonstrate that the cumulative effect of the established glucose loci yielded a significant association with increasing glucose levels.
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- 2017
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34. Comparison of Postprandial Serum Triglyceride and Apolipoprotein B Concentrations between the Two Phases of Menstrual Cycle in Healthy Women
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Nikolaos Chaviaras, Nikolaos Tentolouris, Genovefa Kolovou, Evangelia Tzeravini, Eleftherios Stratigakos, Ioanna Eleftheriadou, Fani Apostolidou-Kiouti, and Anastasios Tentolouris
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medicine.medical_specialty ,Apolipoprotein B ,media_common.quotation_subject ,Coefficient of variation ,Luteal phase ,chemistry.chemical_compound ,Internal medicine ,Follicular phase ,Humans ,Medicine ,Menstrual Cycle ,Triglycerides ,Menstrual cycle ,Apolipoproteins B ,media_common ,Pharmacology ,Triglyceride ,biology ,business.industry ,Area under the curve ,Reproducibility of Results ,Postprandial Period ,Endocrinology ,Postprandial ,chemistry ,biology.protein ,Female ,lipids (amino acids, peptides, and proteins) ,Cardiology and Cardiovascular Medicine ,business - Abstract
Background: Sex hormones influence lipoprotein metabolism; whether the hormonal fluctuation during normal menstrual cycle has impact on non-fasting lipids remains unclear. Objective: To examine the differences in postprandial triglyceride, apolipoprotein B (ApoB) and nonhigh density lipoprotein cholesterol (non-HDL-C) concentrations using a standardized fat tolerance test during the 2 menstrual cycle phases. Methods: We enrolled 25 healthy, menstruating women. Each of them underwent a fat tolerance test during the 2 phases of the menstrual cycle. Blood samples were collected at baseline and up to 6 h postprandially. Differences in serum triglycerides, ApoB and non-HDL-C between the 2 phases were assessed. The incremental area under the curve (iAUC) was calculated. Reproducibility of the measurements was tested using the intraclass correlation coefficient (ICC) and coefficient of variation (CV). Results: Serum triglyceride concentrations increased postprandially in both phases and the values were higher during the follicular compared with the luteal phase; however, the overall triglyceride response expressed as iAUC [median value (interquartile range)] did not differ between the follicular and the luteal phase [54.0 (-26.5, 107.0) and 48.0 (6.0, 114.5) mg x h/dl, respectively, p=0.64]. Serum ApoB concentrations did not increase postprandially and the overall ApoB response was not different between the 2 phases. Non-HDL-C concentrations changed postprandially, but the overall response was not different between the 2 phases of the menstrual cycle. Reproducibility of the measurements was moderate: ICC 0.689-0.848 for triglycerides, 0.721-0.771 for ApoB, 0.457-0.867 for non-HDL-C, and %CV >8 for all parameters. Conclusion: Serum triglyceride levels were higher during the follicular compared with the luteal phase after standardized meal consumption, but the overall postprandial triglyceride response did not differ between the 2 phases. Postprandial ApoB and non-HDL-C serum concentrations were not affected by the menstrual cycle.
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- 2021
35. Robust Bioinformatics Approaches Result in the First Polygenic Risk Score for BMI in Greek Adults
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Maria Kafyra, Ioanna Panagiota Kalafati, Maria Dimitriou, Effimia Grigoriou, Alexandros Kokkinos, Loukianos Rallidis, Genovefa Kolovou, Georgios Trovas, Eirini Marouli, Panos Deloukas, Panagiotis Moulos, and George V. Dedoussis
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polygenic risk score (PRS) ,body mass index (BMI) ,Medicine (miscellaneous) ,Greek adults ,bioinformatics - Abstract
Quantifying the role of genetics via construction of polygenic risk scores (PRSs) is deemed a resourceful tool to enable and promote effective obesity prevention strategies. The present paper proposes a novel methodology for PRS extraction and presents the first PRS for body mass index (BMI) in a Greek population. A novel pipeline for PRS derivation was used to analyze genetic data from a unified database of three cohorts of Greek adults. The pipeline spans various steps of the process, from iterative dataset splitting to training and test partitions, calculation of summary statistics and PRS extraction, up to PRS aggregation and stabilization, achieving higher evaluation metrics. Using data from 2185 participants, implementation of the pipeline enabled consecutive repetitions in splitting training and testing samples and resulted in a 343-single nucleotide polymorphism PRS yielding an R2 = 0.3241 (beta = 1.011, p-value = 4 × 10−193) for BMI. PRS-included variants displayed a variety of associations with known traits (i.e., blood cell count, gut microbiome, lifestyle parameters). The proposed methodology led to creation of the first-ever PRS for BMI in Greek adults and aims at promoting a facilitating approach to reliable PRS development and integration in healthcare practice.
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- 2023
36. Cardiovascular Magnetic Resonance Detects Inflammatory Cardiomyopathy in Symptomatic Patients with Inflammatory Joint Diseases and a Normal Routine Workup
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George Markousis-Mavrogenis, Maria Bonou, Vasiliki Vartela, Genovefa Kolovou, Aliki Venetsanopoulou, Theodora Markatseli, Anastasia Skalkou, Zoi Tziortzioti, Paraskevi Voulgari, and Sophie I. Mavrogeni
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late gadolinium enhancement ,echocardiography ,C-reactive protein ,T1 mapping ,extracellular volume fraction ,rheumatoid arthritis ,ankylosing spondylitis ,psoriatic arthritis ,General Medicine - Abstract
Background. Patients with inflammatory joint diseases (IJD) are more likely to develop cardiovascular disease compared with the general population. We hypothesized that cardiovascular magnetic resonance (CMR) could identify cardiac abnormalities in patients with IJD and atypical symptoms unexplained by routine clinical evaluation. Patients-Methods. A total of 51 consecutive patients with IJD (32 with rheumatoid arthritis, 10 with ankylosing spondylitis, and 9 with psoriatic arthritis) and normal clinical, electrocardiographic and echocardiographic workups, were referred for CMR evaluation due to atypical chest pain, shortness of breath, and/or palpitations. Their CMR findings were compared with those of 40 non-IJD controls who were referred for the same reason. All participants were examined using either a 1.5 T or 3.0 T CMR system. For T1/T2 mapping, comparisons were performed separately for each field strength. Results. Biventricular systolic function was similar between groups. In total, 25 (49%) patients with IJD vs. 0 (0%) controls had replacement-type myocardial fibrosis (p < 0.001). The T2 signal ratio, early/late gadolinium enhancement, and extracellular volume fraction were significantly higher in the IJD group. Native T1 mapping was significantly higher in patients with IJD independent of the MRI field strength (p < 0.001 for both). T2 mapping was significantly higher in patients with IJD compared with controls only in those examined using a 1.5 T MR system—52.0 (50.0, 55.0) vs. 37.0 (33.5, 39.5), p < 0.001. Conclusions. In patients with IJD and a mismatch between cardiac symptoms and routine non-invasive evaluation, CMR uniquely identified a significant proportion of patients with myocardial inflammation. A CMR examination should be considered in patients with IJD in similar clinical settings.
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- 2022
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37. Moderately elevated lipoprotein (a) levels are associated with an earlier need for percutaneous coronary intervention in recurrent cardiovascular disease
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Athanasios Hoursalas, Konstantinos Tsarouhas, Christina Tsitsimpikou, Genovefa Kolovou, Alexander Vardavas, Ioannis Hoursalas, Demetrios Spandidos, Haralampos Milionis, Moses Elisaf, and Stavroula Tsiara
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Cancer Research ,Immunology and Microbiology (miscellaneous) ,General Medicine - Abstract
A significant number of cardiovascular disease (CVD) patients, with the target lipid levels, as set by the guidelines, achieved, continue to remain at risk. In this setting, lipoprotein (Lp) a role in CVD prognosis is regaining interest. Although Lp(a) is related to the arteriosclerotic process, there is not currently an adequate amount of data for the inclusion of Lp(a) levels as a primary therapeutic target in the treatment of coronary artery disease (CAD) patients. In this framework, the current retrospective study aims to investigate the association of Lp(a) levels with the adverse cardiovascular (CV) events presented in a 10 year follow-up of CVD patients with dyslipidemia and its association with the major CV risk factors. A statistically significant reduction in Lp(a) levels was observed during the follow-up period (72.8±45.6 vs. 68.3±41.8 mg/dl; McNemar test; P0.001). The vast majority of patients who suffered a new acute myocardial infarction during the follow up period had Lp(a) levels30 mg/dl (24/28 patients, mean ± standard deviation Lp(a), 83.1±36.6 mg/dl, P=0.001). Kaplan-Meier survival analysis did not find statistically significant differences in a percutaneous coronary intervention (PCI) time occurrence during the follow-up period between patients with low (≤30 mg/dl) and high (30 mg/dl) Lp(a) levels (log-rank P=0.305). On the other hand, when a second and third PCI conducted during the monitoring period were included in the Kaplan Meier analysis as events, the mean time for a PCI was significantly shorter (7.2%; P=0.01) for patients with Lp(a) levels30 mg/dl. In conclusion, the current study reported that patients with high Lp(a) values are more prone to the occurrence of new myocardial infarction, while the Lp(a) cut-off value of 30 mg/dl was linked in CVD patients to an earlier need for PCI, especially in the most vulnerable group of patients with more than one (recurrent) revascularizations.
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- 2022
38. Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study
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Tycho R Tromp, Merel L Hartgers, G Kees Hovingh, Antonio J Vallejo-Vaz, Kausik K Ray, Handrean Soran, Tomas Freiberger, Stefano Bertolini, Mariko Harada-Shiba, Dirk J Blom, Frederick J Raal, Marina Cuchel, Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo-Vaz, Kausik K. Ray, Stefano A. Bertolini, Jing Pang, Gerald F. Watts, Susanne Greber-Platzer, Martin Mäser, Thomas M. Stulnig, Christoph F. Ebenbichler, Khalid Bin Thani, David Cassiman, Olivier S. Descamps, Daisy Rymen, Peter Witters, Raul D. Santos, Liam R. Brunham, Gordon A. Francis, Jacques Genest, Robert A. Hegele, Brooke A. Kennedy, Isabelle Ruel, Mark H. Sherman, Long Jiang, Luya Wang, Željko Reiner, Vladimir Blaha, Richard Ceska, Jana Dvorakova, Lubomir Dlouhy, Pavel Horak, Vladimir Soska, Lukas Tichy, Robin Urbanek, Helena Vaverkova, Michal Vrablik, Stanislav Zemek, Lukas Zlatohlavek, Sameh Emil, Tarek Naguib, Ashraf Reda, Sophie Béliard, Eric Bruckert, Antonio Gallo, Moses S. Elisaf, Genovefa Kolovou, Hofit Cohen, Ronen Durst, Eldad J. Dann, Avishay Elis, Osama Hussein, Eran Leitersdorf, Daniel Schurr, Nitika Setia, Ishwar C. Verma, Mohammed D. Alareedh, Mutaz Al-Khnifsawi, Ali F. Abdalsahib Al-Zamili, Sabah H. Rhadi, Foaad K. Shaghee, Marcello Arca, Maurizio Averna, Andrea Bartuli, Marco Bucci, Paola S. Buonuomo, Paolo Calabrò, Sebastiano Calandra, Manuela Casula, Alberico L. Catapano, Angelo B. Cefalù, Arrigo F.G. Cicero, Sergio D'Addato, Laura D'Erasmo, Alessia Di Costanzo, Tommaso Fasano, Marta Gazzotti, Antonina Giammanco, Gabriella Iannuzzo, Anastasia Ibba, Emanuele A. Negri, Andrea Pasta, Chiara Pavanello, Livia Pisciotta, Claudio Rabacchi, Carlo Ripoli, Tiziana Sampietro, Francesco Sbrana, Fulvio Sileo, Patrizia Suppressa, Patrizia Tarugi, Chiara Trenti, Maria G. Zenti, Mika Hori, Mahmoud H. Ayesh, Sami T. Azar, Fadi F. Bitar, Akl C. Fahed, Elie M. Moubarak, Georges Nemer, Hapizah M. Nawawi, Ramón Madriz, Roopa Mehta, Arjen J. Cupido, Joep C. Defesche, M. Doortje Reijman, Jeanine E. Roeters-van Lennep, Erik S.G. Stroes, Albert Wiegman, Linda Zuurbier, Khalid Al-Waili, Fouzia Sadiq, Krzysztof Chlebus, Mafalda Bourbon, Isabel M. Gaspar, Katarina S. Lalic, Marat V. Ezhov, Andrey V. Susekov, Urh Groselj, Min-Ji Charng, Weerapan Khovidhunkit, Melih Aktan, Bulent B. Altunkeser, Sinan Demircioglu, Melis Kose, Cumali Gokce, Osman Ilhan, Meral Kayikcioglu, Leyla G. Kaynar, Irfan Kuku, Erdal Kurtoglu, Harika Okutan, Osman I. Ozcebe, Zafer Pekkolay, Saim Sag, Osman Z. Salcioglu, Ahmet Temizhan, Mustafa Yenercag, Mehmet Yilmaz, Hamiyet Yilmaz Yasar, Olena Mitchenko, Alexander R.M. Lyons, Christophe A.T. Stevens, Julie A. Brothers, Lisa C. Hudgins, Christina Nguyen, Rano Alieva, Aleksandr Shek, Doan-Loi Do, Ngoc-Thanh Kim, Hong-An Le, Thanh-Tung Le, Mai-Ngoc T. Nguyen, Thanh-Huong Truong, Dirk J. Blom, Frederick J. Raal, VU University medical center, Tromp T.R., Hartgers M.L., Hovingh G.K., Vallejo-Vaz A.J., Ray K.K., Soran H., Freiberger T., Bertolini S., Harada-Shiba M., Blom D.J., Raal F.J., Cuchel M., Bertolini S.A., Pang J., Watts G.F., Greber-Platzer S., Maser M., Stulnig T.M., Ebenbichler C.F., Bin Thani K., Cassiman D., Descamps O.S., Rymen D., Witters P., Santos R.D., Brunham L.R., Francis G.A., Genest J., Hegele R.A., Kennedy B.A., Ruel I., Sherman M.H., Jiang L., Wang L., Reiner Z., Blaha V., Ceska R., Dvorakova J., Dlouhy L., Horak P., Soska V., Tichy L., Urbanek R., Vaverkova H., Vrablik M., Zemek S., Zlatohlavek L., Emil S., Naguib T., Reda A., Beliard S., Bruckert E., Gallo A., Elisaf M.S., Kolovou G., Cohen H., Durst R., Dann E.J., Elis A., Hussein O., Leitersdorf E., Schurr D., Setia N., Verma I.C., Alareedh M.D., Al-Khnifsawi M., Abdalsahib Al-Zamili A.F., Rhadi S.H., Shaghee F.K., Arca M., Averna M., Bartuli A., Bucci M., Buonuomo P.S., Calabro P., Calandra S., Casula M., Catapano A.L., Cefalu A.B., Cicero A.F.G., D'Addato S., D'Erasmo L., Di Costanzo A., Fasano T., Gazzotti M., Giammanco A., Iannuzzo G., Ibba A., Negri E.A., Pasta A., Pavanello C., Pisciotta L., Rabacchi C., Ripoli C., Sampietro T., Sbrana F., Sileo F., Suppressa P., Tarugi P., Trenti C., Zenti M.G., Hori M., Ayesh M.H., Azar S.T., Bitar F.F., Fahed A.C., Moubarak E.M., Nemer G., Nawawi H.M., Madriz R., Mehta R., Cupido A.J., Defesche J.C., Reijman M.D., Roeters-van Lennep J.E., Stroes E.S.G., Wiegman A., Zuurbier L., Al-Waili K., Sadiq F., Chlebus K., Bourbon M., Gaspar I.M., Lalic K.S., Ezhov M.V., Susekov A.V., Groselj U., Charng M.-J., Khovidhunkit W., Aktan M., Altunkeser B.B., Demircioglu S., Kose M., Gokce C., Ilhan O., Kayikcioglu M., Kaynar L.G., Kuku I., Kurtoglu E., Okutan H., Ozcebe O.I., Pekkolay Z., Sag S., Salcioglu O.Z., Temizhan A., Yenercag M., Yilmaz M., Yilmaz Yasar H., Mitchenko O., Lyons A.R.M., Stevens C.A.T., Brothers J.A., Hudgins L.C., Nguyen C., Alieva R., Shek A., Do D.-L., Kim N.-T., Le H.-A., Le T.-T., Nguyen M.-N.T., Truong T.-H., University of Amsterdam, University of Pennsylvania, European Atherosclerosis Society, Experimental Vascular Medicine, Graduate School, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Human Genetics, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias, R Tromp, Tycho, L Hartgers, Merel, Kees Hovingh, G, J Vallejo-Vaz, Antonio, K Ray, Kausik, Soran, Handrean, Freiberger, Toma, A Bertolini, Stefano, Harada-Shiba, Mariko, Pang, Jing, F Watts, Gerald, Greber-Platzer, Susanne, Mäser, Martin, M Stulnig, Thoma, F Ebenbichler, Christoph, Bin Thani, Khalid, Cassiman, David, S Descamps, Olivier, Rymen, Daisy, Witters, Peter, D Santos, Raul, R Brunham, Liam, A Francis, Gordon, Genest, Jacque, A Hegele, Robert, A Kennedy, Brooke, Ruel, Isabelle, H Sherman, Mark, Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Luka, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Luka, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, S Elisaf, Mose, Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, J Dann, Eldad, Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, C Verma, Ishwar, D Alareedh, Mohammed, Al-Khnifsawi, Mutaz, F Abdalsahib Al-Zamili, Ali, H Rhadi, Sabah, K Shaghee, Foaad, Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, S Buonuomo, Paola, Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, L Catapano, Alberico, B Cefalù, Angelo, G Cicero, Arrigo F, D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, A Negri, Emanuele, Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, G Zenti, Maria, Hori, Mika, H Ayesh, Mahmoud, T Azar, Sami, F Bitar, Fadi, C Fahed, Akl, M Moubarak, Elie, Nemer, George, M Nawawi, Hapizah, Madriz, Ramón, Mehta, Roopa, J Cupido, Arjen, C Defesche, Joep, Doortje Reijman, M, E Roeters-van Lennep, Jeanine, G Stroes, Erik S, Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, M Gaspar, Isabel, S Lalic, Katarina, V Ezhov, Marat, V Susekov, Andrey, Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, B Altunkeser, Bulent, Demircioglu, Sinan, Kose, Meli, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, G Kaynar, Leyla, Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, I Ozcebe, Osman, Pekkolay, Zafer, Sag, Saim, Z Salcioglu, Osman, Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, M Lyons, Alexander R, T Stevens, Christophe A, A Brothers, Julie, C Hudgins, Lisa, Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, T Nguyen, Mai-Ngoc, Truong, Thanh-Huong, J Blom, Dirk, J Raal, Frederick, and Cuchel, Marina
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Adult ,Male ,Homozygous Familial Hypercholesterolemia ,Adolescent ,retrospective study ,CHILDREN ,Doenças Cardio e Cérebro-vasculares ,Cohort Studies ,Young Adult ,Medicine, General & Internal ,General & Internal Medicine ,Cardiovascular Disease ,Humans ,Registries ,LIPOPROTEIN-APHERESIS ,Child ,11 Medical and Health Sciences ,Retrospective Studies ,Homozygous Familial Hypercholesterolaemia International Clinical Collaborators ,Science & Technology ,GUIDANCE ,clinical characteristic ,EVOLOCUMAB ,Homozygous familial hypercholesterolemia ,Worldwide ,Therapies ,Cardiovascular disease ,General Medicine ,CARE ,OPEN-LABEL ,EFFICACY ,INSIGHTS ,Child, Preschool ,outcome ,Female ,genetic ,Familial Hypercholesterolaemia ,Life Sciences & Biomedicine - Abstract
[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally., [Methods]: The HoFH International Clinical Collaborators registry collected data on patients with a clinical, or genetic, or both, diagnosis of HoFH using a retrospective cohort study design. This trial is registered with ClinicalTrials.gov, NCT04815005., [Findings]: Overall, 751 patients from 38 countries were included, with 565 (75%) reporting biallelic pathogenic variants. The median age of diagnosis was 12∙0 years (IQR 5∙5–27∙0) years. Of the 751 patients, 389 (52%) were female and 362 (48%) were male. Race was reported for 527 patients; 338 (64%) patients were White, 121 (23%) were Asian, and 68 (13%) were Black or mixed race. The major manifestations of ASCVD or aortic stenosis were already present in 65 (9%) of patients at diagnosis of HoFH. Globally, pretreatment LDL cholesterol levels were 14∙7 mmol/L (IQR 11∙6–18∙4). Among patients with detailed therapeutic information, 491 (92%) of 534 received statins, 342 (64%) of 534 received ezetimibe, and 243 (39%) of 621 received lipoprotein apheresis. On-treatment LDL cholesterol levels were lower in high-income countries (3∙93 mmol/L, IQR 2∙6–5∙8) versus non-highincome countries (9∙3 mmol/L, 6∙7–12∙7), with greater use of three or more lipid-lowering therapies (LLT; highincome 66% vs non-high-income 24%) and consequently more patients attaining guideline-recommended LDL cholesterol goals (high-income 21% vs non-high-income 3%). A first major adverse cardiovascular event occurred a decade earlier in non-high-income countries, at a median age of 24∙5 years (IQR 17∙0–34∙5) versus 37∙0 years (29∙0–49∙0) in high-income countries (adjusted hazard ratio 1∙64, 95% CI 1∙13–2∙38)., [Interpretation]: Worldwide, patients with HoFH are diagnosed too late, undertreated, and at high premature ASCVD risk. Greater use of multi-LLT regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival, which demands a critical re-evaluation of global health policy to reduce inequalities and improve outcomes for all patients with HoFH., Amsterdam University Medical Centers, Location Academic Medical Center; Perelman School of Medicine at the University of Pennsylvania; and European Atherosclerosis Society
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- 2022
39. Pathophysiology of cognitive dysfunction and the role of combined brain/heart magnetic resonance imaging (Review)
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George Markousis‑Mavrogenis, Flora Bacopoulou, Genovefa Kolovou, Maria-Roser Pons, Aikaterini Giannakopoulou, Antigoni Papavasiliou, George Kitas, George Chrousos, and Sophie Mavrogeni
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Cancer Research ,Immunology and Microbiology (miscellaneous) ,General Medicine ,Review - Abstract
Normal cognitive function depends on a continuous and optimally regulated blood supply, and any pathology that further reduces cerebral blood perfusion in addition to that caused by aging could damage or destroy vulnerable neurons of the brain. Furthermore, glucose serves a crucial role as the primary fuel source for the mammalian brain and any disturbance in its circulating concentrations could directly affect brain function. The term cognitive dysfunction (CD), known also as ‘brain fog’, refers to deficits in attention, verbal and non-verbal learning, short-term and working memory, visual and auditory processing, mathematic problem solving, processing speed, focusing on a specific topic, and motor functioning. CD is the end-point of various cardiovascular, neural, metabolic and immune function impairments. Although CD has a serious impact on patient survival and quality of life, usually it is clinically underestimated. CD is currently assessed using cognitive tests (questionnaires), which have important limitations in their diagnostic capacity, specifically in the preclinical forms of CD. Cognitive tests may not identify subclinical cases of CD but diagnose CD only when symptoms are clinically overt. Furthermore, these tests do not provide information regarding the underlying pathophysiologic background of CD. The aim of the present review is to summarize the existing literature on CD and emphasize the role of combined brain-heart magnetic resonance imaging (MRI) in its early diagnosis, before CD questionnaires are abnormal. Combined brain/heart MRI has the potential to identify patients with CD at an early stage, facilitating risk stratification and early intervention. Furthermore, in parallel with brain assessment, it provides valuable information regarding the effect of the underlying disease on the myocardium. Equipment availability, physician familiarity and cost/effectiveness should be considered before wide clinical application of combined brain/heart MRI is recommended.
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- 2022
40. Evinacumab for Homozygous Familial Hypercholesterolemia
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Gerald Watts, Farrah Deeba, David Sullivan, Paul Donald Bonnitcha, San San Min, Nimalie Jacintha Nanayakkara, Christopher Ebenbichler, Alexander Tschoner, Clemens Engler, Daniel Gaudet, Nathalie Roy, David Blackburn, Jean Bergeron, Hisee Villeneuve, Samir Saheb, Antonio Gallo, Sophia Beliard, Bertrand Dussol, Sophie Morange, Pascale Poullin, Rene Valero, Charalampos Milionis, Sebastian Filippas-Ntekouan, Eleftherios Klouras, Genovefa Kolovou, George Hatzigeorgiou, Spyridon Rammos, Paolo Rubba, Gabriella Iannuzzo, Mariko Harada-Shiba, Cheol Son, Hisashi Makino, Kiminori Hosoda, Kota Matsuki, Kyoko Kohmo, Masaki Matsubara, Masatsune Ogura, Michio Noguchio, Miki Matsuo, Ryo Koezuka, Tamiko Tamanaha, Tsutomu Tomita, Yoko Ohata, Yoshihiko Otsubo, Noriaki Koyanagi, Masaaki Kawashiri, Hayato Tada, Atsushi Nohara, Akihiro Nomura, Hirofumi Okada, Naohiko Fujii, Daisuke Hayashi, Sayoko Yonemoto, Shungo Fukuda, Koji Yanagi, Miwa Ryo, Masahiro Koseki, Makoto Nishida, Takeshi Okada, Erik Stroes, Laurens Reeskamp, Daniela Stols-Goncalves, Eva Hamulyak, Anho H Liem, Jurgen M Akkerhuis, Pieter R Nierop, Bastiaan M van Dalen, Sweder W E van de Poll, Adriana J M van Miltenburg-van Zijl, Marinus J Veerhoek, Frederick Raal, Sindeep Amrat Bhana, Olena Mitchenko, Vadym Romanov, Iryna Chulaevska, Leonid Rudenko, Olena Beregova, Igor Vakaliuk, Iryna Drapchak, Natalia Tymochko, Anna Isayeva, Olena Buriakovska, Maryna Vovchenko, Vira Tseluyko, Nataliya Matviychuk, Larysa Yakovleva, Paul Duell, Jonathan Barton Purnell, Robert Rosenson, Donald Smith, Theresa Halloran, Robert Gottlieb, Peter A McCullough, Zachary P Rosol, Andy Y Lee, Clay M Barbin, Seth J Baum, Reina Mendelson, Melissa Wright, Linda Hemphill, Akl Fahed, Traci Turner, Angela Ellard, Gerald Watts, ., Deeba, Farrah, Sullivan, David, Donald Bonnitcha, Paul, San Min, San, Jacintha Nanayakkara, Nimalie, Ebenbichler, Christopher, Tschoner, Alexander, Engler, Clemen, Gaudet, Daniel, Roy, Nathalie, Blackburn, David, Bergeron, Jean, Villeneuve, Hisee, Saheb, Samir, Gallo, Antonio, Beliard, Sophia, Dussol, Bertrand, Morange, Sophie, Poullin, Pascale, Valero, Rene, Milionis, Charalampo, Filippas-Ntekouan, Sebastian, Klouras, Eleftherio, Kolovou, Genovefa, Hatzigeorgiou, George, Rammos, Spyridon, Rubba, PAOLO OSVALDO FEDERICO, Iannuzzo, Gabriella, Harada-Shiba, Mariko, Son, Cheol, Makino, Hisashi, Hosoda, Kiminori, Matsuki, Kota, Kohmo, Kyoko, Matsubara, Masaki, Ogura, Masatsune, Noguchio, Michio, Matsuo, Miki, Koezuka, Ryo, Tamanaha, Tamiko, Tomita, Tsutomu, Ohata, Yoko, Otsubo, Yoshihiko, Koyanagi, Noriaki, Kawashiri, Masaaki, Tada, Hayato, Nohara, Atsushi, Nomura, Akihiro, Okada, Hirofumi, Fujii, Naohiko, Hayashi, Daisuke, Yonemoto, Sayoko, Fukuda, Shungo, Yanagi, Koji, Ryo, Miwa, Koseki, Masahiro, Nishida, Makoto, Okada, Takeshi, Stroes, Erik, Reeskamp, Lauren, Stols-Goncalves, Daniela, Hamulyak, Eva, H Liem, Anho, M Akkerhuis, Jurgen, R Nierop, Pieter, M van Dalen, Bastiaan, E van de Poll, Sweder W, M van Miltenburg-van Zijl, Adriana J, J Veerhoek, Marinu, Raal, Frederick, Amrat Bhana, Sindeep, Mitchenko, Olena, Romanov, Vadym, Chulaevska, Iryna, Rudenko, Leonid, Beregova, Olena, Vakaliuk, Igor, Drapchak, Iryna, Tymochko, Natalia, Isayeva, Anna, Buriakovska, Olena, Vovchenko, Maryna, Tseluyko, Vira, Matviychuk, Nataliya, Yakovleva, Larysa, Duell, Paul, Barton Purnell, Jonathan, Rosenson, Robert, Smith, Donald, Halloran, Theresa, Gottlieb, Robert, A McCullough, Peter, P Rosol, Zachary, Y Lee, Andy, M Barbin, Clay, J Baum, Seth, Mendelson, Reina, Wright, Melissa, Hemphill, Linda, Fahed, Akl, Turner, Traci, Ellard, Angela, Graduate School, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Experimental Vascular Medicine, and ACS - Pulmonary hypertension & thrombosis
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Adult ,Male ,medicine.medical_specialty ,Adolescent ,Evinacumab ,Angiopoietin-like Protein ,Disease ,Familial hypercholesterolemia ,030204 cardiovascular system & hematology ,Hyperlipoproteinemia Type II ,Young Adult ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Double-Blind Method ,Internal medicine ,Anticholesteremic Agent ,Medicine ,Infusions, Intravenou ,030212 general & internal medicine ,Child ,Aged ,Least-Squares Analysi ,business.industry ,Cholesterol ,Homozygote ,Antibodies, Monoclonal ,Cholesterol, LDL ,General Medicine ,Middle Aged ,medicine.disease ,Endocrinology ,Receptors, LDL ,Multicenter study ,chemistry ,Ldl metabolism ,Mutation ,Female ,lipids (amino acids, peptides, and proteins) ,business ,Human ,Lipoprotein - Abstract
BACKGROUND: Homozygous familial hypercholesterolemia is characterized by premature cardiovascular disease caused by markedly elevated levels of low-density lipoprotein (LDL) cholesterol. This disorder is associated with genetic variants that result in virtually absent (null-null) or impaired (non-null) LDL-receptor activity. Loss-of-function variants in the gene encoding angiopoietin-like 3 (ANGPTL3) are associated with hypolipidemia and protection against atherosclerotic cardiovascular disease. Evinacumab, a monoclonal antibody against ANGPTL3, has shown potential benefit in patients with homozygous familial hypercholesterolemia. METHODS: In this double-blind, placebo-controlled, phase 3 trial, we randomly assigned in a 2:1 ratio 65 patients with homozygous familial hypercholesterolemia who were receiving stable lipid-lowering therapy to receive an intravenous infusion of evinacumab (at a dose of 15 mg per kilogram of body weight) every 4 weeks or placebo. The primary outcome was the percent change from baseline in the LDL cholesterol level at week 24. RESULTS: The mean baseline LDL cholesterol level in the two groups was 255.1 mg per deciliter, despite the receipt of maximum doses of background lipid-lowering therapy. At week 24, patients in the evinacumab group had a relative reduction from baseline in the LDL cholesterol level of 47.1%, as compared with an increase of 1.9% in the placebo group, for a between-group least-squares mean difference of -49.0 percentage points (95% confidence interval [CI], -65.0 to -33.1; P
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- 2020
41. Lipoprotein Apheresis and Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors in Patients With Heterozygous Familial Hypercholesterolemia: A One Center Study
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Genovefa Kolovou, Niki Katsiki, Andreas Melidonis, Athanasios J. Manolis, Nikoletta Karampetsou, Dimitri P. Mikhailidis, Stamatis S. Makrygiannis, Vana Kolovou, and Sophie Mavrogieni
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Adult ,Male ,Heterozygote ,medicine.medical_specialty ,Serine Proteinase Inhibitors ,Time Factors ,Familial hypercholesterolemia ,030204 cardiovascular system & hematology ,Antibodies, Monoclonal, Humanized ,Hyperlipoproteinemia Type II ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Humans ,Medicine ,Genetic Predisposition to Disease ,Pharmacology (medical) ,In patient ,030212 general & internal medicine ,PCSK9 Inhibitors ,Aged ,Pharmacology ,Greece ,business.industry ,Anticholesteremic Agents ,Subtilisin ,Cholesterol, LDL ,Middle Aged ,Proprotein convertase ,medicine.disease ,Combined Modality Therapy ,Phenotype ,Treatment Outcome ,Endocrinology ,Receptors, LDL ,Mutation ,Blood Component Removal ,Kexin ,Female ,Proprotein Convertase 9 ,Cardiology and Cardiovascular Medicine ,business ,Lipoprotein apheresis ,Biomarkers - Abstract
Aim:We evaluated the lipid-lowering (LL) effect of proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) in patients with heterozygous familial hypercholesterolemia (HeFH) treated with LL-drugs and lipoprotein apheresis (LA).Patients and Methods:The PCSK9i treatment (evolocumab 420 mg/4 weeks, alirocumab 150 mg/2 weeks, or alirocumab 75 mg/2 weeks: 9, 6, and 2 patients, respectively) was initiated in patients with HeFH (n = 17; aged 35-69 years, 10 men, previously treated with statins + ezetimibe ± colesevelam and LA sessions for 2-12 years). A lipid profile was obtained before and immediately after the LA session and before, 1 and 2 months after switching to PCSK9i treatment. The duration of PCSK9i therapy ranged from 3 to 18 months.Results:Median total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) levels before LA were 268, 198, 46, and 126 mg/dL, respectively, and decreased (at the end of the LA session) to 117, 50, 40, and 51 mg/dL, respectively ( P < .001 for TC and P = .001 for all other comparisons). The median time-averaged LDL-C levels following LA were 155 (121, 176; median [25th, 75th percentile]) mg/dL. Median TC, LDL-C, and TG levels before PCSK9i therapy were 269, 190, and 127 mg/dL and decreased to 152, 100, and 95 mg/dL, respectively ( P = .002, P < .002, and P < .03, respectively). Steady LDL-C levels with PCSK9i treatment were significantly lower compared with time-averaged LDL-C levels following LA (median value: 100 vs 155 mg/dL; P = .008). With PCSK9i, from 13 patients with CHD, 6 (46.1%) patients achieved LDL-C Conclusions:PCSK9i can reduce LDL-C more consistently over time compared with a transient decrease following LA in HeFH patients. PCSK9i therapy may reduce the frequency of LA. Larger trials are required to establish the clinical implications of PCSK9i in patients previously on LA.
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- 2020
42. Rationale and design of the Greek registry for familial hypercholesterolemia (GRegistry-FH) of the hellenic college of treatment of atherosclerosis (HCTA)
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Petros Kalogeropoulos, Olga Kadda, Georgios Kazianis, Helen Bilianou, Katerina Anagnostopoulou, Despina Perrea, Vasiliki Giannakopoulou, Georgios Goumas, Genovefa Kolovou, Vana Kolovou, Christina Marvaki, Sotiria Limberi, and Stamatis Makrygiannis
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medicine.medical_specialty ,lcsh:Diseases of the circulatory (Cardiovascular) system ,Greece ,business.industry ,MEDLINE ,Familial hypercholesterolemia ,Cholesterol, LDL ,medicine.disease ,Atherosclerosis ,Hyperlipoproteinemia Type II ,lcsh:RC666-701 ,Internal medicine ,Medicine ,Humans ,Registries ,Cardiology and Cardiovascular Medicine ,business - Published
- 2020
43. Cardiovascular magnetic resonance clarifies arrhythmogenicity in asymptomatic young athletes with ventricular arrhythmias undergoing pre-participation evaluation
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Vasiliki Vartela, Genovefa Kolovou, Sophie Mavrogeni, Nikolaos Andreou, Aikaterini Giannakopoulou, Konstantinos Tsarouhas, George Papadopoulos, Demetrios A. Spandidos, George Markousis‑Mavrogenis, Christina Kanaka‑Gantenbein, and Flora Bacopoulou
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0301 basic medicine ,Cancer Research ,medicine.medical_specialty ,Myocarditis ,Ventricular tachycardia ,Asymptomatic ,Right ventricular cardiomyopathy ,sudden cardiac death ,Sudden cardiac death ,03 medical and health sciences ,cardiovascular magnetic resonance ,0302 clinical medicine ,Immunology and Microbiology (miscellaneous) ,Internal medicine ,medicine ,cardiovascular diseases ,penalized regression ,pre-participation sports evaluation ,ventricular arrhythmia ,medicine.diagnostic_test ,biology ,business.industry ,Athletes ,Magnetic resonance imaging ,General Medicine ,Odds ratio ,Articles ,medicine.disease ,biology.organism_classification ,030104 developmental biology ,030220 oncology & carcinogenesis ,Cardiology ,cardiovascular system ,athlete ,medicine.symptom ,business - Abstract
Pre-participation sports examination (PPE) is a frequent reason for consultation. However, the exact role of cardiovascular magnetic resonance (CMR) in PPE remains undefined. The additive value of CMR in adolescent athletes with ventricular rhythm disturbances (VRDs) was investigated. We prospectively recruited and evaluated with CMR 50 consecutive, asymptomatic young athletes referred to our tertiary center after identification of VRDs on electrocardiogram (ECG) with otherwise normal standard PPE and echocardiography, and 20 age- and sex-matched healthy volunteer athletes who underwent the same evaluations. The primary outcome was case-control status and the secondary outcome was the discrimination between athletes with VRDs with and without non-sustained ventricular tachycardia (VT). CMR identified arrhythmogenic substrates in all athletes with VRDs. The predominant condition was myocarditis and arrhythmogenic right ventricular cardiomyopathy in patients with and without VT, respectively. Based on penalized regression analysis, late gadolinium enhancement (LGE), early gadolinium enhancement (EGE), extracellular volume fraction (ECV), and T2-mapping, best distinguished between case-control status. The aforementioned indices predicted case-control status independent of age and sex: EGE [Odds ratio (95% confidence interval): 6.89 (2.19-21.62) per 0.5-unit, P
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- 2020
44. Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry
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Francisco J Nóvoa, Claus Peter Schmitt, Sarah D. de Ferranti, Genovefa Kolovou, Lars Pape, Ilse K. Luirink, Barbara A. Hutten, Christina Taylan, Awad Shahrani, Jaap W. Groothoff, Albert Wiegman, Michel Farnier, Jun Oh, Luis Masana, Susanne Greber-Platzer, Martin Maeser, Samir Saheb, Eric Bruckert, Joenna Driemeyer, Eldad J. Dann, General Paediatrics, Graduate School, Paediatric Nephrology, ACS - Atherosclerosis & ischemic syndromes, ACS - Diabetes & metabolism, AGEM - Inborn errors of metabolism, APH - Methodology, APH - Quality of Care, Epidemiology and Data Science, Paediatric Metabolic Diseases, Amsterdam Reproduction & Development (AR&D), APH - Health Behaviors & Chronic Diseases, APH - Aging & Later Life, and ACS - Heart failure & arrhythmias
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Male ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Time Factors ,Adolescent ,Familial hypercholesterolemia ,Down-Regulation ,Disease ,030204 cardiovascular system & hematology ,Hyperlipoproteinemia Type II ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Xanthomatosis ,medicine ,Humans ,Genetic Predisposition to Disease ,Registries ,Homozygous ,Child ,Children ,Atherosclerotic cardiovascular disease ,business.industry ,Homozygote ,Age Factors ,Infant, Newborn ,Infant ,Treatment options ,Cholesterol, LDL ,medicine.disease ,Treatment characteristics ,Lipoprotein spheresis ,Phenotype ,Treatment Outcome ,030104 developmental biology ,Cardiovascular Diseases ,Heart Disease Risk Factors ,Child, Preschool ,Blood Component Removal ,Female ,Cardiology and Cardiovascular Medicine ,business ,Lipoprotein apheresis ,Biomarkers - Abstract
Background and aims: Homozygous familial hypercholesterolemia (hoFH) may cause life-threatening atherosclerotic cardiovascular disease in childhood. Lipoprotein apheresis (LA) is considered a pivotal treatment option, but data on its efficacy, safety and optimal performance are limited. We therefore established an international registry on the execution and outcomes of LA in HoFH children. Here we report LA policies and short-term outcomes. Methods: We approached centers worldwide, involved in LA in children with hoFH for participation. We collected information on clinical and treatment characteristics on patients aged 0–19 years between November 2016 and November 2018. Results: We included 50 children, treated at 15 sites. Median (IQR) LDL-C levels at diagnosis, on medication and on LA were 19.2 (16.2–22.1), 14.4 (10.8–16.7) mmol/L and 4.6 mmol/L, respectively. Median (IQR) time between diagnosis and start of LA was 2.8 (1.0–4.7) years. Six (12%) patients developed cardiovascular disease during that period. Most children received LA either weekly (43%) or biweekly (37%). Seven (17%) patients reached mean LDL-C levels
- Published
- 2020
45. Friedreich’s Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance
- Author
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Michel Noutsias, Roser Pons, Aikaterini Giannakopoulou, Evangelos Karanasios, George P. Chrousos, Genovefa Kolovou, Antigoni Papavasiliou, George Papadopoulos, Sophie Mavrogeni, and Marina Katsalouli
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Ataxia ,Cardiomyopathy ,Severity of Illness Index ,Asymptomatic ,Muscle hypertrophy ,03 medical and health sciences ,0302 clinical medicine ,Fibrosis ,Internal medicine ,medicine ,Humans ,cardiovascular diseases ,Ejection fraction ,medicine.diagnostic_test ,business.industry ,Magnetic resonance imaging ,medicine.disease ,Magnetic Resonance Imaging ,030104 developmental biology ,Neurology ,Friedreich Ataxia ,cardiovascular system ,Cardiology ,Myocardial fibrosis ,Neurology (clinical) ,medicine.symptom ,Cardiomyopathies ,business ,030217 neurology & neurosurgery - Abstract
BackgroundFriedreich's ataxia (FA) is an autosomal-recessive neurodegenerative disease characterised by neurologic, cardiac and endocrine abnormalities. Currently, Friedreich cardiomyopathy (FA-CM) staging is based on early ECG findings, high sensitivity troponin (hsTNT) ≥14 ng/ml and echocardiographic left ventricular (LV) morphologic and functional evaluation. However, further parameters, accessible only by cardiovascular magnetic resonance (CMR), such as myocardial oedema, perfusion defects, replacement and/or diffuse myocardial fibrosis, may have a place in the staging of FA-CA. Our aim was to elucidate the additive value of CMR in FA-CM.MethodsThree FA cases were assessed using ECG, 24 h Holter recording, hsTNT, routine ECHO including wall dimension, valvular and ventricular function evaluation and CMR using 1.5T Ingenia system. Ventricular volumes-function, wall dimensions and fibrosis imaging using late gadolinium enhancement (LGE) was performed.ResultsAll FA patients had non-specific ECG changes, almost normal 24 h Holter recording, mild hypertrophy with normal function assessed by echocardiography and increased hsTNT. However, the CMR evaluation revealed the presence of LGE >5% of LV mass, indicative of severe fibrosis. Therefore, the FA patients were re-categorized as having severe FA-CA, although their LVEF remained normal.ConclusionThe combination of classical diagnostic indices and CMR may reveal early asymptomatic FA-CM and motivate the early initiation of cardiac treatment. Furthermore, these indices can be also used to validate specific treatment targets in FA, potentially useful in the prevention of FA-CM.
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- 2020
46. Combined Brain/Heart Magnetic Resonance Imaging in Systemic Lupus Erythematosus
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Gikas Katsifis, Genovefa Kolovou, Loukia Koutsogeorgopoulou, Theodoros Dimitroulas, George Markousis-Mavrogenis, George D. Kitas, Sophie Mavrogeni, Kyriaki A. Boki, Vasiliki Vartela, and Cees G. M. Kallenberg
- Subjects
Male ,neuro-psychiatric symptoms ,medicine.medical_specialty ,NEUROPSYCHIATRIC MANIFESTATIONS ,SLE ,HEART-DISEASE ,030204 cardiovascular system & hematology ,Asymptomatic ,Article ,03 medical and health sciences ,0302 clinical medicine ,Magnetic resonance imaging ,systemic lupus erythematosus ,Antiphospholipid syndrome ,immune system diseases ,cardiovascular disease ,cognitive dysfunction ,Internal medicine ,PERFUSION ,medicine ,Humans ,Lupus Erythematosus, Systemic ,Endocarditis ,BRAIN ,skin and connective tissue diseases ,PREDICTORS ,Stroke ,030203 arthritis & rheumatology ,medicine.diagnostic_test ,business.industry ,brain lesions ,Microangiopathy ,Heart ,General Medicine ,medicine.disease ,Heart failure ,Cardiology ,RISK-FACTORS ,CORONARY-ARTERY-DISEASE ,Female ,neuropsychiatric symptoms ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,Vasculitis ,business ,MYOCARDIAL INFLAMMATION ,MRI - Abstract
Cardiovascular Disease (CVD) in Systemic Lupus Erythematosus (SLE) and Neuropsychiatric SLE (NPSLE) has an estimated prevalence of 50% and 40%, respectively and both constitute major causes of death among SLE patients. In this review, a combined brain/heart Magnetic Resonance Imaging (MRI) for SLE risk stratification has been proposed. : The pathophysiologic background of NPSLE includes microangiopathy, macroscopic infarcts and accelerated atherosclerosis. Classic brain MRI findings demonstrate lesions suggestive of NPSLE in 50% of the NPSLE cases, while advanced MRI indices can detect pre-clinical lesions in the majority of them, but their clinical impact still remains unknown. Cardiac involvement in SLE includes myo-pericarditis, valvular disease/endocarditis, Heart Failure (HF), coronary macro-microvascular disease, vasculitis and pulmonary hypertension. Classic and advanced Cardiovascular Magnetic Resonance (CMR) indices allow function and tissue characterization for early diagnosis and treatment follow-up of CVD in SLE. : Although currently, there are no clinical data supporting the combined use of brain/heart MRI in asymptomatic SLE, it may have a place in cases with clinical suspicion of brain/heart involvement, especially in patients at high risk for CVD/stroke such as SLE with antiphospholipid syndrome (SLE/APS), in whom concurrent cardiac and brain lesions have been identified. Furthermore, it may be of value in SLE with multi-organ involvement, NPSLE with concurrent cardiac involvement, and recent onset of arrhythmia and/or heart failure.
- Published
- 2020
47. Coronary microvascular disease: The 'Meeting Point' of Cardiology, Rheumatology and Endocrinology
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George Markousis‐Mavrogenis, Flora Bacopoulou, Clio Mavragani, Paraskevi Voulgari, Genovefa Kolovou, George D. Kitas, George P. Chrousos, and Sophie I. Mavrogeni
- Subjects
Inflammation ,Male ,Chest Pain ,Microcirculation ,Clinical Biochemistry ,Cardiology ,Coronary Artery Disease ,General Medicine ,Coronary Angiography ,Coronary Vessels ,Biochemistry ,Dyspnea ,Rheumatology ,Coronary Circulation ,Humans ,Female - Abstract
Exertional chest pain/dyspnea or chest pain at rest are the main symptoms of coronary artery disease (CAD), which are traditionally attributed to insufficiency of the epicardial coronary arteries. However, 2/3 of women and 1/3 of men with angina and 10% of patients with acute myocardial infarction have no evidence of epicardial coronary artery stenosis in X-ray coronary angiography. In these cases, coronary microvascular disease (CMD) is the main causative factor.To present the pathophysiology of CMD in Cardiology, Rheumatology and Endocrinology.The pathophysiology of CMD in Cardiology, Rheumatology and Endocrinology was evaluated. It includes impaired microvascular vasodilatation, which leads to inability of the organism to deal with myocardial oxygen needs and, hence, development of ischemic pain. CMD, observed in inflammatory autoimmune rheumatic and endocrine/metabolic disorders, brings together Cardiology, Rheumatology and Endocrinology. Causative factors include persistent systemic inflammation and endocrine/metabolic abnormalities influencing directly the coronary microvasculature. In the past, the evaluation of microcirculation was feasible only with the use of invasive techniques, such as coronary flow reserve assessment. Currently, the application of advanced imaging modalities, such as cardiovascular magnetic resonance (CMR), can evaluate CMD non-invasively and without ionizing radiation.CMD may present with a variety of symptoms with 1/3 to 2/3 of them expressed as typical chest pain in effort, more commonly found in women during menopause than in men. Atypical presentation includes chest pain at rest or exertional dyspnea,but post exercise symptoms are not uncommon. The treatment with nitrates is less effective in CMD, because their vasodilator action in coronary micro-circulation is less pronounced than in the epicardial coronary arteries.Although both classic and new medications have been used in the treatment of CMD, there are still many questions regarding both the pathophysiology and the treatment of this disorder. The potential effects of anti-rheumatic and endocrine medications on the evolution of CMD need further evaluation.CMD is a multifactorial disease leading to myocardial ischemia/fibrosis alone or in combination with epicardial coronary artery disease. Endothelial dysfunction/vasospasm, systemic inflammation, and/or neuroendocrine activation may act as causative factors and bring Cardiology, Rheumatology and Endocrinology together. Currently, the application of advanced imaging modalities, and specifically CMR, allows reliable assessment of the extent and severity of CMD. These measurements should not be limited to "pure cardiac patients", as it is known that CMD affects the majority of patients with autoimmune rheumatic and endocrine/metabolic disorders.
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- 2022
48. Cardiac amyloidosis: in search of the ideal diagnostic tool
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Vasiliki Vartela, Michel Noutsias, Efstathios Kastritis, Rosa Vretou, Ioannis Paraskevaidis, Angelos G. Rigopoulos, Marini Tselegkidou, George Markousis-Mavrogenis, Ignatios Ikonomidis, Sophie Mavrogeni, Argyrios Ntalianis, and Genovefa Kolovou
- Subjects
medicine.medical_specialty ,Myocarditis ,medicine.drug_class ,Contrast Media ,Gadolinium ,030204 cardiovascular system & hematology ,03 medical and health sciences ,0302 clinical medicine ,Predictive Value of Tests ,Ventricular hypertrophy ,Internal medicine ,Biopsy ,medicine ,Natriuretic peptide ,Humans ,cardiovascular diseases ,030212 general & internal medicine ,medicine.diagnostic_test ,business.industry ,Myocardium ,Amyloidosis ,Magnetic resonance imaging ,Prognosis ,medicine.disease ,Magnetic Resonance Imaging ,Cardiac amyloidosis ,cardiovascular system ,Cardiology ,Cardiomyopathies ,Cardiology and Cardiovascular Medicine ,business ,Electrocardiography - Abstract
Cardiac amyloidosis (CA) is due to amyloid deposition in the myocardium. Transthyretin (ATTR) and light-chain (AL) amyloidosis are the main types of CA. Here, we present the clinical and imaging findings in patients with CA and discuss the controversies with the aim of finding the ideal diagnostic tool.Ten patients suspected of having CA on the basis of electrocardiographic (ECG) and echocardiographic findings were evaluated via cardiovascular magnetic resonance imaging (CMR; 1.5 T) using cine, late gadolinium enhancement (LGE), T1, T2 mapping, and extracellular volume fraction. N‑terminal pro-B-type natriuretic peptide (NT-proBNP) levels were also assessed in all patients.All ten patients had an echocardiogram suggestive of CA. The CMR study documented ventricular hypertrophy leading to small ventricular volumes, as assessed by echocardiography. Diffuse subendocardial LGE, supporting the diagnosis of CA, was identified in all except one patient, who had subepicardial LGE due to myocarditis that was verified by endomyocardial biopsy (EMB). Right ventricular (RV) involvement was identified in four of the ten patients, whose condition deteriorated rapidly over the next 6 months. The NT-proBNP levels were332 pg/ml in all except two patients. Light-chain amyloidosis was identified via fat tissue biopsy in two patients and through renal biopsy in one patient. In two patients with positive technetium-99m, EMB confirmed the diagnosis of ATTR.NT-proBNP may be a sensitive but nonspecific biomarker for assessing CA. However, CMR is the only imaging modality that can assess the pathophysiologic background of cardiac hypertrophy and the severity of CA, irrespective of NT-proBNP level.HINTERGRUND: Der kardialen Amyloidose (CA) liegt eine Amyloidablagerung im Myokard zugrunde. Transthyretin- (ATTR) und Leichtketten(AL)-Amyloidose sind die Hauptursachen der CA. Ziel der Autoren war es, klinische und bildgebende Befunde bei Patienten mit CA zu präsentieren und die entsprechenden Kontroversen mit dem Ziel darzustellen, das ideale Diagnoseinstrument zu erkennen.Es wurden 10 Patienten, bei denen die Verdachtsdiagnose CA aufgrund von Elektrokardiogramm (EKG) und Echokardiographie bestand, mittels kardiovaskulärer Magnetresonanzbildgebung (CMR; 1,5 T) mit Cine-Funktion, Beurteilung des Late Gadolinium Enhancement (LGE), T1-, T2-Mapping und Bestimmung der extrazellulären Volumenfraktion untersucht. Der Wert für NT-proBNP („N-terminal pro-B-type natriuretic peptide“) wurde ebenfalls bei allen gemessen.Bei allen (n = 10) Patienten gab es in der Echokardiographie Hinweise auf CA. In der CMR wurde eine ventrikuläre Hypertrophie dokumentiert, die zu kleinen ventrikulären Volumina führte, was durch die Echokardiographie festgestellt wurde. Diffuses subendokardiales LGE, das für die Diagnose einer CA spricht, wurde bei allen mit Ausnahme eines Patienten, der subepikardiales LGE aufgrund einer Myokarditis aufwies, durch eine Endomyokardbiopsie (EMB) bestätigt. Eine rechtsventrikuläre (RV-)Beteiligung wurde bei 4/10 Patienten festgestellt, deren Zustand sich innerhalb der nächsten 6 Monate rasch verschlechterte. Der NT-proBNP-Spiegel war insgesamt332 pg/ml, mit Ausnahme von 2 Patienten. Eine AL-Amyloidose wurde durch Fettgewebebiopsie bei 2/10 und durch Nierenbiopsie bei 1/10 Patienten identifiziert. Bei 2/10 Patienten mit positiverNT-proBNP ist möglicherweise ein sensitiver, aber nicht spezifischer Biomarker für die Beurteilung einer CA. Die CMR ist jedoch das einzige Bildgebungsverfahren, mit dem der pathophysiologische Hintergrund der Herzhypertrophie und der Schweregrad der CA unabhängig von den NT-proBNP-Spiegeln beurteilt werden kann.
- Published
- 2019
49. Cardiac magnetic resonance predicts ventricular arrhythmias in scleroderma: the Scleroderma Arrhythmia Clinical Utility Study (SAnCtUS)
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Genovefa Kolovou, Konstantinos Bratis, Alberto Moggi-Pignone, Petros P. Sfikakis, Lorenzo Monti, Silvia Bellando-Randone, Vasiliki-Kalliopi Bournia, George Markousis-Mavrogenis, Georgia Karabela, Marco Matucci-Cerinic, Loukia Koutsogeorgopoulou, Luna Gargani, Gikas Katsifis, Daniele De Marchi, Efthymios Stavropoulos, Serena Guiducci, Theodoros Dimitroulas, Maria De Santis, Alessia Pepe, Cosimo Bruni, and Sophie Mavrogeni
- Subjects
Adult ,Male ,cardiovascular magnetic resonance ,rhythm disturbance ,scleroderma ,sudden cardiac death ,systemic sclerosis ,Aged ,Arrhythmias, Cardiac ,Female ,Heart Ventricles ,Humans ,Magnetic Resonance Imaging ,Middle Aged ,Prospective Studies ,Scleroderma, Systemic ,Ventricular Function, Left ,medicine.medical_specialty ,Left ,Arrhythmias ,030204 cardiovascular system & hematology ,Ventricular tachycardia ,Sudden cardiac death ,03 medical and health sciences ,0302 clinical medicine ,Rheumatology ,Interquartile range ,Internal medicine ,medicine ,Ventricular Function ,Pharmacology (medical) ,cardiovascular diseases ,AcademicSubjects/MED00360 ,Cause of death ,030203 arthritis & rheumatology ,Ejection fraction ,business.industry ,Systemic ,Hazard ratio ,Cardiac arrhythmia ,Clinical Science ,medicine.disease ,Idioventricular rhythm ,cardiovascular system ,Cardiology ,business ,Cardiac - Abstract
Objectives Cardiac rhythm disturbances constitute the most frequent cardiovascular cause of death in SSc. However, electrocardiographic findings are not a part of risk stratification in SSc. We aimed to translate 24 h Holter findings into a tangible risk prediction score using cardiovascular magnetic resonance. Methods The Scleroderma Arrhythmia Clinical Utility Study (SAnCtUS) was a prospective multicentre study including 150 consecutive SSc patients from eight European centres, assessed with 24 h Holter and cardiovascular magnetic resonance, including ventricular function, oedema (T2 ratio) and late gadolinium enhancement (%LGE). Laboratory/clinical parameters were included in multivariable corrections. A combined endpoint of sustained ventricular tachycardia requiring hospitalization and sudden cardiac death at a median (interquartile range) follow-up of 1 (1.0–1.4) year was generated. Results Only T2 ratio and %LGE were significant predictors of ventricular rhythm disturbances, but not of supraventricular rhythm disturbances, after multivariable correction and adjustment for multiple comparisons. Using decision-tree analysis, we created the SAnCtUS score, a four-category scoring system based on T2 ratio and %LGE, for identifying SSc patients at high risk of experiencing ventricular rhythm disturbance at baseline. Increasing SAnCtUS scores were associated with a greater disease and arrhythmic burden. All cases of non-sustained ventricular tachycardia (n = 7) occurred in patients with the highest SAnCtUS score (=4). Having a score of 4 conveyed a higher risk of reaching the combined endpoint in multivariable Cox regression compared with scores 1/2/3 [hazard ratio (95% CI): 3.86 (1.14, 13.04), P = 0.029] independently of left ventricular ejection fraction and baseline ventricular tachycardia occurrence. Conclusion T2 ratio and %LGE had the greatest utility as independent predictors of rhythm disturbances in SSc patients.
- Published
- 2019
50. Volanesorsen: A New Era in the Treatment of Severe Hypertriglyceridemia
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Genovefa Kolovou, Vana Kolovou, and Niki Katsiki
- Subjects
lipids (amino acids, peptides, and proteins) ,General Medicine - Abstract
Introduction: Familial chylomicronemia syndrome (FCS) is a rare inherited disease, mainly due to lipoprotein lipase (LPL) gene mutations, leading to lipid abnormalities. Volanesorsen, a second-generation 2′-O-methoxyethyl (2′-MOE) chimeric antisense therapeutic oligonucleotide, can decrease plasma apolipoprotein C3 and triglycerides (TG) levels through LPL-independent pathways. The European Medicines Agency has approved volanesorsen as an adjunct to diet in adult FCS patients with an inadequate response to TG-lowering therapy. Areas covered: Available clinical data on volanesorsen efficacy and safety are presented. Furthermore, we discuss the yearly treatment with volanesorsen of a 21-year-old female FCS patient with LPL mutation. Volanesorsen was well-tolerated and decreased patient’s TG levels (from >5000 mg/dL (56 mmol/L) to 350–500 mg/dL (4–5.6 mmol/L)) at 12 months. Lipoprotein apheresis (LA) was stopped and there were no episodes of pancreatitis or abdominal pain. Expert opinion: Severe hypertriglyceridemia can potentially be fatal. Until recently, there was no specific treatment for FCS, apart from hypotriglyceridemic diet, fibrates, omega-3 fatty acids, and LA sessions. Therefore, volanesorsen represents a promising therapeutic solution for these patients. The main side effect of volanesorsen therapy is thrombocytopenia, which should be monitored and treated accordingly. Increasing evidence will further elucidate the clinical implications of volanesorsen use in daily practice.
- Published
- 2021
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