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Cytomorphological distinction between hepatocellular carcinoma and metastatic tumors to the liver may be difficult, especially when these have poor differentiation. The present study was done to assess the diagnostic utility of hepatocyte paraffin-1 (HepPar-1), CD10, and CD34 in differentiating hepatocellular carcinoma from metastatic carcinoma.Ultrasound-guided fine-needle aspiration was performed on 50 patients with space-occupying lesions of liver suspicious for malignancy on clinical/radiologic findings. The cytological assessment was done on smears stained with May-Grünwald-Giemsa and hematoxylin and eosin. Cell blocks were prepared, and immunostaining for HepPar-1, CD10, and CD34 was done.In these 50 patients, hepatocellular carcinoma was diagnosed in 7 and metastatic tumors in 43 cases. The sensitivity of smears in diagnosing hepatocellular carcinoma was 100% and the specificity was 95.3%, while the sensitivity and specificity of cell block were 100%. A canalicular pattern of CD10 immunoreactivity had a 100% positive predictive value for diagnosing hepatocellular carcinoma. CD10 had a sensitivity of 57.1% and 41.9% in identification of HCC and metastatic tumors, respectively. For the diagnosis of hepatocellular carcinoma, the sensitivity of CD34 was 85.7% and the specificity of sinusoidal pattern of immunoreactivity was 100%. The sensitivity and specificity of granular cytoplasmic staining pattern of HepPar-1 were 100% in hepatocellular carcinoma.The staining patterns of HepPar-1, CD10, and CD34 are highly specific in distinguishing hepatocellular carcinoma from metastasis. These three immunomarkers should be included in the immunocytochemical panel for differentiating hepatocellular carcinoma from metastatic carcinoma to the liver.

Many patients with adult congenital heart disease (ACHD) do not receive guideline-directed care. While distance to an ACHD center has been identified as a potential barrier to care, the impact of distance on care location is not well understood. The Oregon All Payer All Claims database was queried to identify subjects 18-65 years who had a health encounter from 2010 to 2015 with an International Classification of Diseases-9 code consistent with ACHD. Residence area was classified using metropolitan statistical areas and driving distance was queried from Google Maps. Utilization rates and percentages were calculated and odds ratios were estimated using negative binomial and logistic regression. Of 10,199 identified individuals, 52.4% lived 4 h. Increased distance from the ACHD center was associated with a lower rate of ACHD-specific follow-up [ 4 h: 5.0%, adjusted OR 0.32 (0.22, 0.48)], but with more inpatient, emergency room, and outpatient visits overall. Those who more lived more than 4 h from the ACHD center had less inpatient visits at urban hospitals (55.5% vs. 93.9% in those

Complications of pregnancy present an opportunity to identify women at high risk of cardiovascular disease (CVD). Placental abruption is a severe and understudied pregnancy complication, and its relationship with CVD is poorly understood. The California Healthcare Cost and Utilization Project database was used to identify women with hospitalized pregnancies in California between 2005 and 2009, with follow-up through 2011. Pregnancies, exposures, covariates, and outcomes were defined by International Classification of Diseases Ninth Revision codes. Cox proportional-hazards regression was used to examine the association between placental abruption and myocardial infarction (MI), stroke, and heart failure (HF). Multivariate models controlling for age, race, medical co-morbidities, pregnancy complications, psychiatric and substance use disorders, and socioeconomic factors were employed. Among over 1.5 million pregnancies, placental abruption occurred in 14,881 women (1%). Median follow-up time from delivery to event or censoring was 4.87 (interquartile range 3.54 to 5.96) years. In unadjusted models, placental abruption was associated with risk of HF, but not MI or stroke. In fully-adjusted models, placental abruption remained significantly associated with HF (Hazard ratio 1.44; 95% confidence interval 1.09 to 1.90). Among women with placental abruptions, hypertensive disorders of pregnancy and preterm birth respectively modified and mediated the association between placental abruption and HF. In conclusion, placental abruption is a risk factor for HF, particularly in women who also experience hypertensive disorders of pregnancy and preterm birth. Placental abruption is a specific adverse pregnancy outcome associated with risk of HF.

Background Although the number of hospital visits has exponentially increased for adults with congenital heart disease (CHD) over the past few decades, the relationship between insurance status and hospital encounter type remains unknown. The purpose of this study was to evaluate the association between insurance status and emergent versus nonemergent encounters among adults with CHD ≥18 years old. Methods and Results We used California Office of Statewide Health Planning and Development Database from January 2005 to December 2015 to determine the trends of insurance status and encounters and the association of insurance status on encounter type among adults with CHD. A total 58 359 nonpregnancy encounters were identified in 6077 patients with CHD. From 2005 to 2015, the number of uninsured encounters decreased by 38%, whereas government insured encounters increased by 124% and private by 79%. Overall, there was a significantly higher proportion of emergent than nonemergent encounters associated with uninsured status (13.0% versus 1.8%; P P P P P Conclusions Efforts to enhance the ability to obtain and maintain insurance throughout the lifetime of patients with CHD might result in meaningful reductions in emergent encounters and a more efficient use of resources.

Background Many adults with congenital heart disease (ACHD) are cared for by non‐ACHD specialists, if they receive care at all. Little is known about the differences between those who access care at an ACHD center and those who do not access ACHD‐specific care. Methods and Results The Oregon All Payer All Claims database was queried to identify subjects aged 18 to 65 years with an International Classification of Diseases, Ninth Revision ( ICD‐9 ) code consistent with ACHD from 2010 to 2015. ACHD center providers were identified using National Provider Identification numbers. Usage rates and percentages were calculated with person‐years in the denominator, and rate ratios and odds ratios (ORs) were estimated using negative binomial and logistic regression. Only 11.7% of identified individuals (N=10 199) were seen at the ACHD center. These individuals were younger (median 36 versus 47 years; P P P P Conclusions Patients at an ACHD center comprise a distinct and complex group with a high rate of healthcare use and a relatively higher compliance with guideline‐indicated annual follow‐up. These findings underscore the importance of building and supporting robust systems for ACHD care in the United States.

ObjectiveThis tertiary centre study aims to identify factors associated with adverse outcomes in adult survivors with total cavopulmonary connection (TCPC) Fontan palliation for single ventricle.MethodsThis retrospective review of medical records identified adult (≥18 years) survivors of TCPC Fontan palliation who were followed at a single tertiary centre between 1 January 2000 and 1 July 2019. Adverse outcomes were defined as arrhythmia, pacemaker/implantable cardioverter defibrillator placement, liver cirrhosis, protein losing enteropathy, hospitalisation for heart failure, thromboembolic complication and/or death.Results160 adult TCPC patients met the inclusion criteria: 117 (73.1%) extracardiac and 43 (26.9%) lateral tunnel. The median (IQR) duration of follow-up since TCPC palliation was 17.5 (11.8–21.3) years. An adverse outcome occurred in 87 (54.4%) patients. Adverse outcome-free survival rates at 10, 20 and 25 years post TCPC were 89% (95% CI 82% to 93%), 60% (95% CI 50% to 69%) and 24% (95% CI 15% to 35%), respectively. On multivariate analysis, extracardiac Fontan (HR 2.21, 95% CI 1.20 to 4.08, p=0.011) was observed to be an independent risk factor for adverse outcomes after adjusting for age, race, morphology of the systemic ventricle and history of fenestration.ConclusionsIn this single-centre retrospective study of adult survivors of TCPC palliation, extracardiac Fontan was associated with an increased hazard for adverse outcomes. This finding could guide clinicians in developing risk modification strategies and management decisions to improve long-term outcomes in these patients.

Maternal cardiac disease (MCD) is associated with increased maternal and neonatal morbidity and mortality. Because unplanned pregnancies are especially risky, active use of reliable contraception is critical in this population. Studies in the noncardiac population have demonstrated that the postpartum period is an ideal time to address contraceptive plans. This retrospective cohort study was designed to describe contraceptive choices in women with MCD in the immediate postpartum period and to identify factors associated with specific contraceptive plans. We included women with MCD who delivered from January 2008 to September 2017 at a tertiary care institution with a multidisciplinary obstetrics and cardiology team. Maternal demographics, specifics of MCD, obstetrical outcomes, and contraceptive plans were obtained through chart review. Contraceptive plans were categorized into highly reliable methods (sterilization or long-acting reversible contraceptive methods) or less reliable methods (nonlong-acting reversible contraceptive methods or no contraception). In the 254 women included in this study, 40% planned to use highly reliable methods, while 60% planned to use less reliable methods. Women with cardiomyopathy were more likely to choose a highly reliable method of contraception (adjusted odds ratio 2.6, 95% confidence interval 1.2 to 5.7), a reassuring finding, given the particularly high risk of poor pregnancy outcome with this diagnosis. There were no differences in other cardiac diagnoses between the 2 contraceptive groups. In conclusion, the finding that

Introduction: Patent ductus arteriosus (PDA) is often recognized and treated with percutaneous closure in adults. However, the impact on cardiac reverse remodeling following PDA closure in adults is not clear. We performed a meta-analysis to characterize the extent of cardiac remodeling following percutaneous PDA closure in adults. Methods: MEDLINE and EMBASE were systematically searched for original studies that reported echocardiographic variables at baseline, immediately post-procedure (within 24 hours), and at follow-up (>1 month) in adults undergoing percutaneous PDA closure. Additionally, we included echocardiographic data from a cohort of patients >18 years of age that underwent percutaneous PDA closure between 01/2015 and 12/2019 at our centre. For parameters with sufficient data for pooling, weighted averages were calculated, and pooled differences were presented as weighted mean differences. Heterogeneity was assessed using the I 2 statistic. Results: After screening 278 abstracts, 5 studies were identified. When combined with our own cohort of 13 patients, our meta-analysis encompassed 244 patients. The weighted mean age of all patients was 33 years with all studies predominantly comprised of female patients and the median follow-up was 12 months (ranging from 1 month- 5 years across the studies). When compared to baseline, left ventricular ejection fraction (LVEF) decreased significantly immediately post-procedure and all parameters significantly decreased at follow-up (Table 1). Conclusions: As demonstrated by the decreases in the left ventricular and left atrial sizes, reverse remodeling was observed in adults who underwent percutaneous PDA closure. The significantly lower LVEF immediately post-procedure could reflect withdrawal of chronic volume overload or increased afterload. The clinical significance of the statistically significant lower LVEF on follow-up testing is unclear and requires further evaluation.

Background: Arguments against universal health insurance are ongoing, but insurance coverage may be beneficial in high-risk populations such as adults with congenital heart disease (ACHD). While the number of hospital visits have exponentially increased for ACHD over the last few decades, the impact of insurance on the type of hospital encounters remains unknown. Hypothesis: Uninsured ACHD patients are more likely to have emergent hospital encounters than those insured. Methods: Using California Office of Statewide Health Planning and Development Database from 01/2005 to 10/2015, we identified all hospital encounters that were emergent (which might or might not have resulted in an admission) or nonemergent among ACHD ≥18 years old. We determined the trends over time and odds of insurance status on emergent vs. nonemergent encounters. Results: Among 69,876,425 encounters, 72,142 were in patients with CHD diagnoses (mean age 49±12 years, 43% males, 52% Caucasian, 4% uninsured). 78% had severe CHD and 75% had a comorbidity. From 2005 to 2015, while all ACHD encounters increased by 108% (p for trend Conclusions: Efforts to enhance the ability to obtain and maintain insurance throughout the lifetime of ACHD patients might result in meaningful reductions in emergency encounters and a more efficient use of resources.

Cardiovascular disease is the leading cause of death in women accounting for 1 in every 4 female deaths. Pathophysiology of ischemic heart disease in women includes epicardial coronary artery, endothelial dysfunction, coronary vasospasm, plaque erosion and spontaneous coronary artery dissection. Angina is the most common presentation of stable ischemic heart disease (SIHD) in women. Risk factors for SIHD include traditional risks such as older age, obesity (body mass index [BMI] >25 kg/m2), smoking, hypertension, dyslipidemia, cerebrovascular and peripheral vascular disease, sedentary lifestyle, family history of premature coronary artery disease, metabolic syndrome and diabetes mellitus, and nontraditional risk factors, such as gestational diabetes, insulin resistance/polycystic ovarian disease, pregnancy-induced hypertension, pre-eclampsia, eclampsia, menopause, mental stress and autoimmune diseases. Diagnostic testing can be used effectively to risk stratify women. Guidelines-directed medical therapy including aspirin, statins, beta-blocker therapy, calcium channel blockers and ranolazine should be instituted for symptom and ischemia management. Despite robust evidence regarding the adverse outcomes seen in women with ischemic heart disease, knowledge gaps exist in several areas. Future research needs to be directed toward a greater understanding of the role of nontraditional risk factors for SIHD in women, gaining deeper insights into the sex differences in therapeutic effects and formulating a sex-specific algorithm for the management of SIHD in women.

Introduction: Transradial access has been shown to be safe and effective in the setting of percutaneous coronary intervention (PCI) and even being benefi cial in regards to vascular complications and perceived quality of life after the intervention.

Introduction Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital disease that frequently remains undiagnosed until adulthood, especially when there is an absence of other congenital anomalies. Adults with ccTGA may remain asymptomatic and their diagnosis could be missed on initial evaluation, or it could be diagnosed incidentally as an evaluation of murmur. We aim to report the different presentations of ccTGA in eight adult patients and review the key features required to suspect the diagnosis during an initial visit. Cases We present some illustrative cases of ccTGA patients who had diverse presentations ranging from being completely asymptomatic to presenting with an acquired heart disease resulting in sudden cardiac arrest. Overall, most of these patients had isolated ccTGA with no other significant associated cardiac anomalies and were either undiagnosed or lost to follow-up until adulthood. These case illustrations represent the challenges confronted in adult practices when patients with unrecognized ccTGA present during an initial visit. Conclusions Congenitally corrected transposition of the great arteries poses a challenge in the adult cardiology practice because of its diverse clinical presentation. It is crucial that internists, cardiologists, and sonographers maintain a high degree of suspicion after meticulous physical examination for the early recognition of ccTGA, and thus avoid associated morbidities. Through some case examples, we provide clues to the key diagnostic features that could help them to be vigilant in making a diagnosis.

This study examines the ambulatory health care use and costs of adults with congenital heart disease in the US.

The modified World Health Organization (mWHO) classification is known to estimate the risk of maternal cardiovascular (CV) events in pregnancy and up to 6 months (mo) postpartum among women with congenital heart disease (CHD). However, predictors of maternal CV events > 6 mo after delivery have not

A potent phytase-producing bacterium Bacillus lehensis MLB2 was isolated from bean-grown soil. The optimum conditions recorded after optimization were 24 h incubation time, pH 5.5, 37°C, 2% inoculum level, 0.5% rice bran and 0.5% potassium nitrate. An overall 3.144-fold enhancement in phytase production was achieved after optimization. The use of an inexpensive substrate rice bran and short incubation period make the phytase production cost effective. The purified phytase (152.9 U/mg) had a molecular mass of approximately 98.686 kDa as determined by sodium dodecyl sulphate-polyacryalamide gel electrophoresis and confirmed by liquid chromatography-mass spectrometry, optimum pH of 4.5, and temperature of 37°C. It maintained maximum stability in the acidic region from pH 2.0 to 6.0 and retained 100% at 60°C or below. It showed an enhanced activity in the presence of 5 mM K+ and Na+. Ca2+, Mg2+, and Ba2+ did not have any effect or slightly activate the phytase. Group-specific reagents indicated the presence of cysteine and tryptophan in or near the active site of the enzyme. Better pH and temperature broad range adaptability, strict sodium phytate specificity and low Km value of 0.1232 mM, and in vitro release of a significant amount of orthophosphate from feedstuffs, and thus reduction of environmental phosphorus pollution, make the B. lehensis MLB2 phytase a good candidate for feed additive applicability.

BACKGROUND A high proportion of stable hypertrophic cardiomyopathy (HCM) patients have elevated serum cardiac troponin I (cTnI), but its clinical and echocardiographic determinants are unknown. Our objective was to determine the prevalence and clinical predictors of positive troponin (cTnI+) in a well-defined population of HCM patients using a highly sensitive assay. METHODS We retrospectively interrogated medical records of 167 stable HCM patients from 1/2011 to 3/2014. cTnI >0.04 ng/mL was considered positive. RESULTS Thirty-four percent were troponin-positive (median cTnI was 0.1 [0.07, 0.2] ng/dL). cTnI as a continuous variable correlated positively with maximal left ventricular wall thickness (LVT), maximal interventricular septal thickness, and global longitudinal strain (GLS) (P

Summary Background Liver disease (LD) is a long-term complication in patients with a single ventricle who have had the Fontan operation. A decline in cardiopulmonary exercise testing (CPET) variables is associated with increased risk of hospitalization, but its association with LD is unknown. Aim To determine the association between CPET variables and LD in adults who have had the Fontan operation. Methods We retrospectively reviewed the medical records from two tertiary institutions. Results We identified 114 adults (≥ 18 years; mean 30.9 ± 7.4 years) who had undergone the Fontan operation: 56% were women; 63% had total cavopulmonary connection; 66% had New York Heart Association (NYHA) class I status; 42% had arrhythmias; 22% had systemic right ventricle; and 35% had ventricular dysfunction. Of 81 patients with liver-imaging data, 41% had LD (i.e. imaging evidence of cirrhosis, with or without portal hypertension, splenomegaly or varices). There were no differences in clinical or echocardiographic variables between those with and without LD. Among the 58 patients with CPET data, mean peak oxygen consumption (VO2) was 18.6 ± 5.7 mL/kg/min, per-cent-predicted peak VO2 was 53.9 ± 15.5%, peak oxygen pulse was 9.3 ± 2.9 mL/beat and per-cent-predicted peak oxygen pulse was 82.6 ± 21.5%. Of the 44 patients with liver and CPET data, each standard deviation decrease in per-cent-predicted peak VO2 (16%) and per-cent-predicted peak oxygen pulse (22%) was associated with a 2.3-fold increase in the odds of LD, after adjusting for NYHA, institution and Fontan type (P = 0.04). Similarly, each standard deviation decrease in per-cent-predicted peak VO2 and oxygen pulse was associated with an estimated 5.9-year and 4.9-year earlier onset of LD, respectively (P > 0.05). Conclusions Decline in per-cent-predicted peak VO2 and oxygen pulse was associated with increased odds of LD in adults who had undergone the Fontan operation. Our study supports more rapid hepatic evaluation among patients with abnormal or worsening CPET variables.

Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital disease that frequently remains undiagnosed until adulthood, especially when there is an absence of other congenital anomalies. Adults with ccTGA may remain asymptomatic and their diagnosis could be missed on initial evaluation, or it could be diagnosed incidentally as an evaluation of murmur. We aim to report the different presentations of ccTGA in eight adult patients and review the key features required to suspect the diagnosis during an initial visit.We present some illustrative cases of ccTGA patients who had diverse presentations ranging from being completely asymptomatic to presenting with an acquired heart disease resulting in sudden cardiac arrest. Overall, most of these patients had isolated ccTGA with no other significant associated cardiac anomalies and were either undiagnosed or lost to follow-up until adulthood. These case illustrations represent the challenges confronted in adult practices when patients with unrecognized ccTGA present during an initial visit.Congenitally corrected transposition of the great arteries poses a challenge in the adult cardiology practice because of its diverse clinical presentation. It is crucial that internists, cardiologists, and sonographers maintain a high degree of suspicion after meticulous physical examination for the early recognition of ccTGA, and thus avoid associated morbidities. Through some case examples, we provide clues to the key diagnostic features that could help them to be vigilant in making a diagnosis.

Background Left ventricular noncompaction (LVNC) is commonly associated with complex congenital anomalies. The association of LVNC with less complex but more frequent anomalies, such as bicuspid aortic valve (BAV), is not well described in the literature. The aims of this study were to (1) determine the incidence of association of LVNC with the most common congenital anomaly, BAV, in an echocardiographic database and (2) describe clinical and imaging characteristics of these patients. Methods An echocardiography database was retrospectively interrogated to identify 109 patients who fulfilled the echocardiographic criteria for BAV from July 1, 2011, to March 31, 2013. Echocardiograms were carefully evaluated to identify patients with concomitant LVNC. Results Twelve patients (11.0%) with BAV fulfilled the criteria for LVNC. The mean age at diagnosis was 33 ± 16.9 years; nine of 12 were men. Eight patients (66.7%) had symptoms during initial presentation. The most common BAV morphology was fusion of the right and left coronary cusps. Nine patients had mild or moderate aortic valve dysfunction (aortic regurgitation and/or stenosis), and eight had associated aortopathy. LVNC was located at the apex in all patients except one. Mean systolic global longitudinal strain was −16.9 ± 2.7%. Conclusions In this series of patients, concomitant BAV and LVNC were observed in 11% of a BAV population. Further studies are needed to understand the genetic and pathophysiologic basis of this association.

© 2016, BMJ Publishing Group. All rights reserved. Background: The presence of mitral valve prolapse (MVP) in congenital heart disease (CHD) patients is not well described. Tetralogy of Fallot (TOF) is the most common cyanotic CHD associated with overall good long-term survival after palliation. Since MVP is more often identified in adults and TOF patients are now surviving longer, we thus sought to perform this cohort study with a case-control design to (1) determine the prevalence of MVP and systolic displacement of mitral leaflets (SDML) in adult TOF patients, and (2) describe their clinical and imaging characteristics. Methods: Retrospective interrogation of our echocardiography database identified 328 consecutive TOF patients ≥18 years from 1 January 2000 to 31 December 2014. All images were reviewed to identify patients with concomitant MVP (prolapse >2 mm beyond the long-axis annular plane) or SDML (

Ebstein anomaly is a congenital malformation of the tricuspid valve (TV) with right ventricular(RV) myopathy. There is wide range of presentation from patients who are asymptomatic to various degree of RV failure. We present a 32 year old male who presents with palpitations and shortness of breath

Aims Our goal was to identify the prevalence of aortic dilation in patients with hypertrophic cardiomyopathy (HCM), the most prevalent (0.2%) heritable, genetic cardiovascular disease. Aortic dilation also represents a spectrum of familial inheritance. However, data regarding the prevalence of aortic dilation in HCM patients is lacking. Methods and results This is an observational retrospective study of all patients referred to our HCM centre. Aortic dilation was defined based on recent American Society of Echocardiography and European Association of Cardiovascular Imaging published guidelines. Of the 201 HCM patients seen between Jan. 1, 2011 and March 31, 2014, 18 (9.0%) met the definition of aortic dilation. Mean age was 56.3 ± 9.3 years, 77.8% were male, mean ascending aorta diameter was 4.0 ± 0.4 cm in males and 3.8 ± 0.2 cm in females, mean sinuses of Valsalva diameter was 4.2 ± 0.2 cm in males and 3.8 ± 0.4 cm in females, and 13 (72.2%) had left ventricular outflow tract obstruction. HCM patients with dilated aorta were more likely males, less likely hypertensive and had larger left ventricle diameter and more aortic valve regurgitation; remaining characteristics were similar. Conclusion We report a novel observation with 9.0% prevalance of dilated aorta in HCM patients. Further studies are needed to help define the genetic and pathophysiologic basis as well as the clinical implications of this association in a larger group of HCM patients.

There are limited data on incidence of Kommerell diverticulum (KD) and aneurysm (KA). We aimed to report the incidence and clinical presentation of KD and KA; and determine risk factors for development of KA. The Mayo Clinic radiology database was retrospectively analyzed to identify pts with

Though drug-eluting stents (DES) have shown better outcomes when compared to bare metal stents (BMS) in patients with native coronary lesions, their efficacy in saphenous vein graft (SVG) disease is not clear. We searched Pubmed, EBSCO and Cochrane databases for terms “drug eluting stents”, “

Aortic atherosclerotic plaques are usually seen in males older than 55 years who are known to have risk factors of atherosclerosis. Recent large series of consecutive stroke patients reported that the prevalence of aortic atheromatous plaques in patients with stroke is about 21%-27%, which is in the same magnitude when compared with the prevalence of carotid disease (10%-13%) and atrial fibrillation (18%-30%). Atheromatous plaques are composed of a lipid pool, a fibrous cap, smooth muscle cells, and mononuclear cell infiltration with calcification. Aortic plaques can cause embolization to brain, extremities, or visceral organs. Atheroembolization can occur spontaneously or as a result of manipulation during cardiac or vascular surgery. Only few cases of cerebral embolization from an aortic plaque in the absence of any manipulation have been described. Although few atherosclerotic plaques can be visualized on the aortogram, transesophageal echocardiogram remains a preferred modality for diagnosis in such cases. We present a case of cerebral embolism arising from a mobile noncalcified complex aortic arch plaque diagnosed on a transesophageal echocardiogram and review the literature on its diagnosis, clinical implications, and management.

Background: Recently, a new MOGE(S) (Morphofunctional, Organ involvement, Genetics, Etiology of details of the genetic disease or underlying cause, and functional Status) genotype to phenotype nosology system for classification of cardiomyopathies was proposed, but its clinical use has not been described.Objectives: This study presents the comprehensive geno-phenotypic evaluation of hypertrophic cardiomyopathy (HCM) patients by employing the newly proposed World Heart Federation classification of cardiomyopathies — the MOGE(S) classification.Methods: From January 2011 to March 2014, 254 patients were evaluated (190 probands and 64 family members). Of those, 181 were HCM phenotype-positive probands, and 54.7% were male patients. Mean maximal left ventricular thickness was 2.2 ± 0.6 cm, with >2.5 cm thickness seen in 21.5% of patients. Obstructive HCM was present in 66.3% of patients, with an average peak gradient of 57.1 ± 47.2. Detailed clinical, imaging, and follow-up data were analyzed. Gene testing was performed in 129 patients (67.9%), and they were categorized into gene-positive (MHOHGADEG+) and gene-negative (MHOHGADEG–) groups based on the MOGE(S) classification.Results: MHOHGADEG+ patients were younger at time of diagnosis, more likely to be female, more likely to have ventricular tachycardia and a family history of HCM or sudden death, had lower peak gradients, and were more likely to have sudden death risk factors.Conclusions: In addition to employing genotype-to-phenotype nosology to describe HCM, we propose a modification to the current MOGE(S) classification for HCM based on the presence or absence of obstruction and location of hypertrophy within the morphology.HighlightsWe present a most contemporary regional hypertrophic cardiomyopathy center experience.We propose a modification to the MOGE(S) (Morphofunctional, Organ involvement, Genetics, Etiology of details of the genetic disease or underlying cause, and functional Status) classification for hypertrophic cardiomyopathy.MOGE(S) classification provides insight about clinical course and facilitates communication.

Major technical advances in the medical and surgical therapy for congenital heart defects (CHD) over the last 40 years have allowed the majority of infants born with CHD to survive to adulthood. Indeed, roughly two thirds of all CHD patients in the USA are now adults. Despite their improved survival, these patients continue to face the sequelae of their original defects and of their surgical correction. One of the principal predictors of long-term outcomes in patients with both palliated and unpalliated CHD is the state of the pulmonary vasculature and the presence or absence of pulmonary vascular disease. Over the past two decades, there have been dramatic strides in the understanding of the pathophysiology of pulmonary vascular disease, and this improved understanding has permitted the development of targeted drug therapies for pulmonary hypertension. A growing body of clinical research has documented impressive results when patients with idiopathic pulmonary arterial hypertension (iPAH) are treated with these new agents. While the clinical research on subjects with PAH related to congenital heart disease (PAH-CHD) has lagged behind that for iPAH patients, emerging data are establishing a clear role for these advanced therapeutic strategies in patients with PAH-CHD. This chapter will provide a basic overview of the pathophysiology of PAH-CHD and review the current evidence-based pharmacotherapy for this population of patients.

The role of bone marrow cell transplant in ischemic heart failure is being increasingly recognized. Multiple studies have been published evaluating their use with varying results. We aimed to perform a meta-analysis of the published literature. We searched Pubmed, EBSCO and Cochrane databases for terms “bone marrow transplant”, “stem cell transplant”, “heart failure”, “cardiac failure” and their combinations. Only studies comparing bone marrow cell transplantation via intracoronary route to placebo, and those with 6 month follow up data were included. Studies in language other than English were excluded. Results: Ejection fraction was significantly increased with the use of bone marrow cell transplant compared to placebo (mean difference 6.16% 95%CI 4.16 to 8.16, p < 0.00001). No significant differences were observed in left ventricular (LV) end-systolic volume (mean difference -1.58 ml 95%CI -4.98 to 1.82, p = 0.36), LV end-diastolic volume (mean difference -0.77 ml 95%CI -3.75 to 2.22, p = 0.61) and mortality (odds ratio 1.08 95%CI 0.26 to 4.56, p = 0.92). Results of heterogeneity analysis showed significant heterogeneity only for ejection fraction endpoint (p = 0.01). Conclusion: As compared to placebo, intracoronary bone marrow cell transplant is associated with improved LV ejection fraction by 6% in ischemic heart failure patients at 6 month follow up.

The role of everolimus in cardiac transplantation is being increasingly recognized.Multiple studies have been published comparing the use of everolimus and mycophenolate with varying results. We aimed to perform a meta-analysis of the published literature. We searched Pubmed, EBSCO and Cochrane databases for terms “everolimus”, “mycophenolate”, “heart transplantation”, “cardiac transplantation” and their combinations. All studies in which everolimus was compared to mycophenolate were included. Studies in language other than English were excluded. Rates of biopsy proven acute rejection (OR 0.82 CI 0.67 to 1.00, p = 0.05), hemodynamically significant rejection (OR 0.76, CI 0.39 to 1.50, p = 0.43)or change in glomerular filtration rate (GFR) (mean difference -1.91, CI -6.90 to 3.08, p = 0.45) were similar between everolimus and mycophenolate groups. Everolimus use was associated with significant reduction in average maximal intimal thickness (mean difference -0.04 CI -0.06 to -0.02, p = 0.001) and cytomegalovirus antigenemia (OR 0.38, CI 0.28 to 0.53, p < 0.00001). There was no significant heterogeneity for any endpoint except change in GFR. As compared to mycophenolate, everolimus use is associated with similar antirejection outcomes after cardiac transplantation but with reduced maximal intimal thickness and cytomegalovirus antigenemia.