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2. Mavacamten: a first-in-class myosin inhibitor for obstructive hypertrophic cardiomyopathy.

Author

Braunwald, Eugene, Saberi, Sara, Abraham, Theodore, Elliott, Perry, and Olivotto, Iacopo

Subjects
Ejection fraction, Myectomy, Myosin, Pressure gradient, Adult, Humans, Benzylamines, Cardiomyopathy, Hypertrophic, Heart, United States, Uracil
Abstract

Mavacamten is a first-in-class, targeted, cardiac-specific myosin inhibitor approved by the US Food and Drug Administration for the treatment of adults with symptomatic New York Heart Association Classes II and III obstructive hypertrophic cardiomyopathy (oHCM). Mavacamten was developed to target the hyper-contractile phenotype, which plays a critical role in the pathophysiology of the disease. In Phase 2 and 3 clinical trials, mavacamten was well tolerated, reduced left ventricular outflow tract gradients, improved exercise capacity and symptoms, and was associated with improvements in other clinically relevant parameters, such as patient-reported outcomes and circulating biomarkers. In addition, treatment with mavacamten was associated with evidence of favourable cardiac remodelling in multi-modality imaging studies. Mavacamten substantially reduced guideline eligibility for septal reduction therapy candidates with oHCM and drug-refractory symptoms. In this article, the available efficacy and safety data from completed and ongoing clinical studies of mavacamten in patients with symptomatic oHCM are reviewed. Longer term extension studies may help address questions related to the positioning of mavacamten in current oHCM management algorithms, interactions with background therapy, as well as the potential for disease modification beyond symptomatic relief of left ventricular outflow tract obstruction.

Published
2023

5. Abstract 17689: Distal Ventricular Pacing for Drug-Refractory Mid-Cavity Obstructive Hypertrophic Cardiomyopathy: A Randomized, Placebo-Controlled Trial of Personalized Pacing

Author

Malcolmson, James, Hughes, Rebecca, Husselbury, Tim, Khan, Kamran, Learoyd, Annastazia E, Lees, Martin, Wicks, Eleanor, Smith, Jamie, Simms, Alexander, Moon, James, Lopes, Luis, O’Mahony, Constantinos, Sekhri, Neha, Elliott, Perry M, Petersen, Steffen E, Dhinoja, Mehul B, and Mohiddin, Saidi A

Published
2023
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8. Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy.

Author

Garcia‐Pavia, Pablo, Damy, Thibaud, Piriou, Nicolas, Barriales‐Villa, Roberto, Cappelli, Francesco, Bahus, Catherine, Munteanu, Carmen, Keohane, Denis, Mallaina, Pablo, and Elliott, Perry

Abstract

Aims: Recognition of transthyretin amyloid cardiomyopathy is increasing due to advances in cardiac imaging and diagnostic strategies, but questions remain regarding disease frequency and characteristics. We examined the prevalence and characteristics of transthyretin amyloid cardiomyopathy in older patients with hypertrophic cardiomyopathy of unascertained aetiology. Methods and results: TTRACK was a multicentre, non‐interventional, cross‐sectional epidemiologic study funded by Pfizer and conducted in 20 hospitals and medical centres in 11 countries (NCT03842163). Eligible patients were aged ≥50 years, had hypertrophic cardiomyopathy (maximal end‐diastolic left ventricular wall thickness ≥15 mm on echocardiogram) without an identified genetic or alternative origin at study enrolment, and underwent 99mTechnetium bone scintigraphy, with or without single photon emission computed tomography (SPECT). Cardiac‐versus‐bone uptake on scans was visually scored from 0 to 3 (Perugini scoring). Patients with grades 1–3 underwent monoclonal protein and laboratory testing and transthyretin (TTR) gene sequencing. Of 766 eligible patients, 691 (90.2%) had scintigraphy alone and 75 (9.8%) scintigraphy plus SPECT. Two hundred and eight patients (27.2%) had grade 2 or 3 cardiac uptake on scintigraphy; 144 (18.8%) had grade 2 or 3 cardiac uptake and no evidence of plasma cell dyscrasia and were diagnosed with transthyretin amyloid cardiomyopathy. Of patients with transthyretin amyloid cardiomyopathy, 11 (7.6%) had a pathogenic TTR gene variant and 34 (23.8%), 74 (51.7%), and 35 (24.5%) had New York Heart Association class I, II, and III/IV heart failure (HF) symptoms, respectively. Clinical and laboratory diagnostic characteristics were observed in ≥90% of patients with transthyretin amyloid cardiomyopathy. The characteristics most strongly associated with transthyretin amyloid cardiomyopathy on multivariable analysis were carpal tunnel syndrome (odds ratio [OR] 54.3; P < 0.0001) and male sex (OR 7.9; P < 0.0001). Conclusions: In the TTRACK study, almost one in five patients ≥50 years of age with hypertrophic cardiomyopathy had transthyretin amyloid cardiomyopathy. Greater awareness of the frequency and characteristics of transthyretin amyloid cardiomyopathy in older patients with hypertrophic cardiomyopathy are needed to help improve early detection of this debilitating but treatable disease. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Characterization and natural history of patients with LMNA‐related dilated cardiomyopathy in the phase 3 REALM‐DCM trial.

Author

Garcia‐Pavia, Pablo, Lakdawala, Neal K., Sinagra, Gianfranco, Ripoll‐Vera, Tomas, Afshar, Kia, Priori, Silvia G., Ware, James S., Owens, Anjali, Li, Huihua, Angeli, Franca S., Elliott, Perry, MacRae, Calum A., and Judge, Daniel P.

Abstract

Aims: LMNA‐related dilated cardiomyopathy (DCM) is a rare disease with an incompletely defined phenotype. The phase 3 REALM‐DCM trial evaluated a potential disease‐modifying therapy for LMNA‐related DCM but was terminated due to futility without safety concern. This study utilized pooled data from REALM‐DCM to descriptively characterize the phenotype and progression of LMNA‐related DCM in a contemporary cohort of patients using common heart failure (HF) measures. Methods: REALM‐DCM enrolled patients with stable LMNA‐related DCM, an implanted cardioverter defibrillator or cardiac resynchronization therapy defibrillator, and New York Heart Association (NYHA) Class II/III HF symptoms. Results: Between 2018 and 2022, 77 patients took part in REALM‐DCM. The median patient age was 53 years (range: 23–72), and 57% were male. Overall, 88% of patients had a pathogenic or likely pathogenic LMNA variant, and 12% had a variant of uncertain significance with a concordant phenotype. Among patients with confirmed sequencing, 55% had a missense variant. Atrial fibrillation was present in 60% of patients; 79% of all patients had NYHA Class II and 21% had NYHA Class III HF symptoms at baseline. Median (range) left ventricular ejection fraction (LVEF), 6 min walk test (6MWT) distance, Kansas City Cardiomyopathy Questionnaire Overall Summary (KCCQ‐OS) score and N‐terminal pro‐B‐type natriuretic peptide (NT‐proBNP) concentration at baseline were 42% (23–62), 403 m (173–481), 67 (18–97) and 866 pg/mL (57–5248), respectively. LVEF, 6MWT distance and KCCQ‐OS score were numerically lower in patients who had NYHA Class III versus II symptoms at baseline (LVEF: 38% vs. 43%; 6MWT distance: 326 vs. 413 m; and KCCQ‐OS score: 43 vs. 70), whereas NT‐proBNP concentration was higher (1216 vs. 799 pg/mL). Median follow‐up was 73 weeks (range: 0.4–218; 73 in NYHA Class II and 75 in NYHA Class III). Patients displayed variable change from baseline in 6MWT, KCCQ‐OS and NT‐proBNP values during follow‐up. Overall, 25% of patients experienced ventricular tachycardia, and 8% had ventricular fibrillation. Ten (13%) patients met the composite endpoint of worsening HF (adjudicated HF‐related hospitalization or urgent care visit) or all‐cause death; six had NYHA Class II and four had NYHA Class III at baseline. All‐cause mortality occurred in 6 (8%) patients; three had NYHA Class II and three had NYHA Class III symptoms at baseline. Conclusions: Findings confirm the significant morbidity and mortality associated with LMNA‐related DCM despite the standard of care management. Typical measures of HF, including 6MWT distance, KCCQ‐OS score and NT‐proBNP concentration, were variable but correlated with NYHA class. An unmet treatment need remains among patients with LMNA‐related DCM. NCT03439514. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Maximal Wall Thickness Measurement in Hypertrophic Cardiomyopathy: Biomarker Variability and its Impact on Clinical Care

Author

Captur, Gabriella, Manisty, Charlotte H., Raman, Betty, Marchi, Alberto, Wong, Timothy C., Ariga, Rina, Bhuva, Anish, Ormondroyd, Elizabeth, Lobascio, Ilaria, Camaioni, Claudia, Loizos, Savvas, Bonsu-Ofori, Jenade, Turer, Aslan, Zaha, Vlad G., Augutsto, João B., Davies, Rhodri H., Taylor, Andrew J., Nasis, Arthur, Al-Mallah, Mouaz H., Valentin, Sinitsyn, Perez de Arenaza, Diego, Patel, Vimal, Westwood, Mark, Petersen, Steffen E., Li, Chunming, Tang, Lijun, Nakamori, Shiro, Nezafat, Reza, Kwong, Raymond Y., Ho, Carolyn Y., Fraser, Alan G., Watkins, Hugh, Elliott, Perry M., Neubauer, Stefan, Lloyd, Guy, Olivotto, Iacopo, Nihoyannopoulos, Petros, and Moon, James C.

Published
2021
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12. The genetic architecture of Plakophilin 2 cardiomyopathy

Author

Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D.H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., and Parikh, Victoria N.

Published
2021
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14. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: A report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines

Author

Ommen, Steve R., Mital, Seema, Burke, Michael A., Day, Sharlene M., Deswal, Anita, Elliott, Perry, Evanovich, Lauren L., Hung, Judy, Joglar, José A., Kantor, Paul, Kimmelstiel, Carey, Kittleson, Michelle, Link, Mark S., Maron, Martin S., Martinez, Matthew W., Miyake, Christina Y., Schaff, Hartzell V., Semsarian, Christopher, Sorajja, Paul, O'Gara, Patrick T., Beckman, Joshua A., Levine, Glenn N., Al-Khatib, Sana M., Armbruster, Anastasia, Birtcher, Kim K., Ciggaroa, Joaquin, Dixon, Dave L., de las Fuentes, Lisa, Fleisher, Lee A., Gentile, Federico, Goldberger, Zachary D., Gorenek, Bulent, Haynes, Norrisa, Hernandez, Adrian F., Hlatky, Mark A., Jones, W. Schuyler, Marine, Joseph E., Mark, Daniel, Palaniappan, Latha, Piano, Mariann R., Tamis-Holland, Jacqueline, Wijeysundera, Duminda N., and Woo, Y. Joseph

Published
2021
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16. Effect of Tafamidis on Cardiac Function in Patients With Transthyretin Amyloid Cardiomyopathy

Author

Shah, Sanjiv J., Fine, Nowell, Garcia-Pavia, Pablo, Klein, Allan, Fernandes, Fabio, Weissman, Neil, Maurer, Mathew, Boman, Kurt, Gundapaneni, Balarama, Sultan, Marla, Elliott, Perry, Shah, Sanjiv J., Fine, Nowell, Garcia-Pavia, Pablo, Klein, Allan, Fernandes, Fabio, Weissman, Neil, Maurer, Mathew, Boman, Kurt, Gundapaneni, Balarama, Sultan, Marla, and Elliott, Perry

Abstract

IMPORTANCE: Tafamidis has been shown to improve survival in patients with transthyretin amyloid cardiomyopathy (ATTR-CM) compared with placebo. However, its effect on cardiac function has not been fully characterized. OBJECTIVE: To examine the effect of tafamidis on cardiac function in patients with ATTR-CM. DESIGN, SETTING, AND PARTICIPANTS: This was an exploratory, post hoc analysis of the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT), a multicenter, international, double-blind, placebo-controlled phase 3 randomized clinical trial conducted from December 2013 to February 2018. The ATTR-ACT included 48 sites in 13 counties and enrolled patients aged 18 to 90 years with ATTR-CM. Data were analyzed from July 2018 to September 2023. INTERVENTION: Patients were randomized to tafamidis meglumine, 80 mg or 20 mg, or placebo for 30 months. MAIN OUTCOMES AND MEASURES: Patients were categorized based on left ventricular (LV) ejection fraction at enrollment as having heart failure with preserved ejection fraction (≥50%), mildly reduced ejection fraction (41% to 49%), or reduced ejection fraction (≤40%). Changes from baseline to month 30 in LV ejection fraction, LV stroke volume, LV global longitudinal strain, and the ratio of early mitral inflow velocity to septal and lateral early diastolic mitral annular velocity (E/e′) were compared in patients receiving tafamidis, 80 mg, vs placebo. RESULTS: A total of 441 patients were randomized in ATTR-ACT, and 436 patients had available echocardiographic data. Of 436 included patients, 393 (90.1%) were male, and the mean (SD) age was 74 (7) years. A total of 220 (50.5%), 119 (27.3%), and 97 (22.2%) had heart failure with preserved, mildly reduced, and reduced LV ejection fraction, respectively. Over 30 months, there was less pronounced worsening in 4 of the echocardiographic measures in patients receiving tafamidis, 80 mg (n = 176), vs placebo (n = 177) (least squares mean difference: LV stroke volume, 7.02 mL

Published
2024
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17. Circulating c-Met–Expressing Memory T Cells Define Cardiac Autoimmunity

Author

Fanti, Silvia, Stephenson, Edward, Rocha-Vieira, Etel, Protonotarios, Alexandros, Kanoni, Stavroula, Shahaj, Eriomina, Longhi, M. Paula, Vyas, Vishal S., Dyer, Carlene, Pontarini, Elena, Asimaki, Angeliki, Bueno-Beti, Carlos, De Gaspari, Monica, Rizzo, Stefania, Basso, Cristina, Bombardieri, Michele, Coe, David, Wang, Guosu, Harding, Daniel, Gallagher, Iain, Solito, Egle, Elliott, Perry, Heymans, Stephane, Sikking, Maurits, Savvatis, Konstantinos, Mohiddin, Saidi A., and Marelli-Berg, Federica M.

Published
2022
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20. Safety and efficacy of aficamten in patients with non‐obstructive hypertrophic cardiomyopathy: A 36‐week analysis from FOREST‐HCM.

Author

Masri, Ahmad, Barriales‐Villa, Roberto, Elliott, Perry, Nassif, Michael E., Oreziak, Artur, Owens, Anjali T., Tower‐Rader, Albree, Heitner, Stephen B., Kupfer, Stuart, Malik, Fady I., Melloni, Chiara, Meng, Lisa, Wei, Jenny, and Saberi, Sara

Subjects
HYPERTROPHIC cardiomyopathy, VENTRICULAR ejection fraction, TROPONIN I, PULMONARY veins, ATRIAL fibrillation
Abstract

Aims: The aim of this study was to report safety and efficacy of aficamten in patients with non‐obstructive hypertrophic cardiomyopathy (nHCM) over 36 weeks in the ongoing FOREST‐HCM trial. Methods and results: Patients were started on aficamten 5 mg daily, with doses adjusted in 5‐mg increments (5–20 mg) at ≥2‐week intervals according to site‐read left ventricular ejection fraction (LVEF). Aficamten dose was increased if LVEF ≥55%, maintained if LVEF 50–54%, decreased if LVEF 40–<50%, and temporarily interrupted if LVEF <40%. Safety and efficacy were assessed over 36 weeks. Overall, 34 patients were enrolled (mean age 57.2 ± 15.3 years, 62% female, 41% in New York Heart Association [NYHA] class III). Over 36 weeks, 82.3% achieved 15–20 mg daily dose and there was a modest reduction in LVEF by −4.3% ± 5.2 from 70% ± 6.1 (p < 0.0001). At Week 36, NYHA class improved by ≥1 class in 27 (79.4%) patients. Mean Kansas City Cardiomyopathy Questionnaire clinical summary score improved by 13.8 ± 12.5 points relative to baseline. Median (interquartile range) levels of N‐terminal pro‐B‐type natriuretic peptide were significantly improved from baseline (−665.5 pg/ml [−1244.0, −232.0]; p < 0.0001), while high‐sensitivity cardiac troponin I was unchanged (−2.7 ng/L [−11.3, 1.6]; p = 0.25). There were no drug discontinuations due to adverse events. LVEF <50% occurred in 2 (5.9%) patients, one following pulmonary vein isolation and one associated with atrial fibrillation. Conclusions: Over 36 weeks, aficamten appeared safe and effective in the studied patients with nHCM. [ABSTRACT FROM AUTHOR]

Published
2024
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21. The arrhythmic substrate of hypertrophic cardiomyopathy using ECG imaging.

Author

Ji-Jian Chow, Leong, Kevin M. W., Shun-Shin, Matthew, Jones, Sian, Guttmann, Oliver P., Mohiddin, Saidi A., Lambiase, Pier, Elliott, Perry M., Ormerod, Julian O. M., Koa-Wing, Michael, Lefroy, David, Phang Boon Lim, Linton, Nicholas W. F., Fu Siong Ng, Qureshi, Norman A., Whinnett, Zachary I., Peters, Nicholas S., Francis, Darrel P., Varnava, Amanda M., and Kanagaratnam, Prapa

Subjects
VENTRICULAR arrhythmia, VENTRICULAR fibrillation, HYPERTROPHIC cardiomyopathy, VENTRICULAR tachycardia, IMPLANTABLE cardioverter-defibrillators
Abstract

Introduction: Patients with hypertrophic cardiomyopathy (HCM) are at risk for lethal ventricular arrhythmia, but the electrophysiological substrate behind this is not well-understood. We used non-invasive electrocardiographic imaging to characterize patients with HCM, including cardiac arrest survivors. Methods: HCM patients surviving ventricular fibrillation or hemodynamically unstable ventricular tachycardia (n = 17) were compared to HCM patients without a personal history of potentially lethal arrhythmia (n = 20) and a pooled control group with structurally normal hearts. Subjects underwent exercise testing by non-invasive electrocardiographic imaging to estimate epicardial electrophysiology. Results: Visual inspection of reconstructed epicardial HCM maps revealed isolated patches of late activation time (AT), prolonged activation-recovery intervals (ARIs), as well as reversal of apico-basal trends in T-wave inversion and ARI compared to controls (p < 0.005 for all). AT and ARI were compared between groups. The pooled HCM group had longer mean AT (60.1 ms vs. 52.2 ms, p < 0.001), activation dispersion (55.2 ms vs. 48.6 ms, p = 0.026), and mean ARI (227 ms vs. 217 ms, p = 0.016) than structurally normal heart controls. HCM ventricular arrhythmia survivors could be differentiated from HCM patients without a personal history of life-threatening arrhythmia by longer mean AT (63.2 ms vs. 57.4 ms, p = 0.007), steeper activation gradients (0.45 ms/mm vs. 0.36 ms/mm, p = 0.011), and longer mean ARI (234.0 ms vs. 221.4 ms, p = 0.026). A logistic regression model including whole heart mean activation time and activation recovery interval could identify ventricular arrhythmia survivors from the HCM cohort, producing a C statistic of 0.76 (95% confidence interval 0.72-0.81), with an optimal sensitivity of 78.6% and a specificity of 79.8%. Discussion: The HCM epicardial electrotype is characterized by delayed, dispersed conduction and prolonged, dispersed activation-recovery intervals. Combination of electrophysiologic measures with logistic regression can improve differentiation over single variables. Future studies could test such models prospectively for risk stratification of sudden death due to HCM. [ABSTRACT FROM AUTHOR]

Published
2024
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22. A Proof of Principle 2D Spatial Proteome Mapping Analysis Reveals Distinct Regional Differences in the Cardiac Proteome.

Author

Heywood, Wendy E., Searle, Jon, Collis, Richard, Doykov, Ivan, Ashworth, Michael, Sebire, Neil, Bamber, Andrew, Gautel, Mathias, Eaton, Simon, Coats, Caroline J., Elliott, Perry M., and Mills, Kevin

Subjects
ARRHYTHMOGENIC right ventricular dysplasia, MITRAL valve, PROTEOMICS, MITOCHONDRIAL proteins, TRICUSPID valve
Abstract

Proteomics studies often explore phenotypic differences between whole organs and systems. Within the heart, more subtle variation exists. To date, differences in the underlying proteome are only described between whole cardiac chambers. This study, using the bovine heart as a model, investigates inter-regional differences and assesses the feasibility of measuring detailed, cross-tissue variance in the cardiac proteome. Using a bovine heart, we created a two-dimensional section through a plane going through two chambers. This plane was further sectioned into 4 × 4 mm cubes and analysed using label-free proteomics. We identified three distinct proteomes. When mapped to the extracted sections, the proteomes corresponded largely to the outer wall of the right ventricle and secondly to the outer wall of the left ventricle, right atrial appendage, tricuspid and mitral valves, modulator band, and parts of the left atrium. The third separate proteome corresponded to the inner walls of the left and right ventricles, septum, and left atrial appendage. Differential protein abundancies indicated differences in energy metabolism between regions. Data analyses of the mitochondrial proteins revealed a variable pattern of abundances of complexes I–V between the proteomes, indicating differences in the bioenergetics of the different cardiac sub-proteomes. Mapping of disease-associated proteins interestingly showed desmoglein-2, for which defects in this protein are known to cause Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, which was present predominantly in the outer wall of the left ventricle. This study highlights that organs can have variable proteomes that do not necessarily correspond to anatomical features. [ABSTRACT FROM AUTHOR]

Published
2024
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23. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

Author

Salazar-Mendiguchía, Joel, Barriales-Villa, Roberto, Lopes, Luis R., Ochoa, Juan P., Rodríguez-Vilela, Alejandro, Palomino-Doza, Julián, Larrañaga-Moreira, José M., Cicerchia, Marcos, Cárdenas-Reyes, Ivonne, García-Giustiniani, Diego, Brögger, Noël, Fernández, Germán, García, Soledad, Santiago, Lisi, Vélez, Paula, Ortiz-Genga, Martín, Elliott, Perry M., and Monserrat, Lorenzo

Published
2020
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24. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Author

Renieri, Alessandra, Dursun, Ali, Matilla-Duenas, Antoni, Cormand, Bru, Rivolta, Carlo, Ayuso, Carmen, Espinós, Carmen, Scerri, Christian, Yalnizoglu, Dilek, Soler, Doriette, Morava, Eva, Barbetti, Fabrizio, Forzano, Francesca, Mari, Francesca, Muntoni, Francesco, Tort, Frederic, Houlden, Henry James, Tejada, Maria-Isabel, Senderek, Jan, Benitez, Javier, De La Calle, Javier Corral, Serra, Jordi, Millán, José Ma, Segovia, Jose, Gimeno Blanes, Juan Ramon, Armstrong, Judith, Ozgul, Koksal, Vilarinho, Laura, Montoliu, Lluis, Posada, Manuel, Mencarelli, Maria Antonietta, Mora, Marina, Bianchi, Paola, Seeman, Pavel, Elliott, Perry M., Ferlini, Alessandra, Brice, Alexis, Wirth, Brunhilde, Hanna, Mike, Tabrizi, Sarah, Klockgether, Thomas, Timmerman, Vincent, Straub, Volker, Kurul, Semra Hiz, Oktay, Yavuz, Gungor, Serdal, Yaramis, Ahmet, Yis, Uluc, Macaya, Alfons, Ribes, Antonia, Pujol, Aurora, Lázaro, Conxi, Grinberg, Daniel, Tizzano, Eduardo, Cardellach, Francesc, Palau, Francesc, Milà, Montse, Gallano, Pia, Artuch, Rafael, MartiSeves, Ramon, Villanueva, Gonzalo, Vidal, Silvia, Garrabou, Gloria, Balcells, Susanna, Urreizti, Roser, López, Estrella, Cuscó, Ivon, Valenzuela, Irene, Sabater, Maria, Matalonga, Leslie, Laurie, Steven, Papakonstantinou, Anastasios, Piscia, Davide, Mereu, Elisabetta, Bullich, Gemma, Thompson, Rachel, Horvath, Rita, Pérez-Jurado, Luis, Riess, Olaf, Gut, Ivo, van Ommen, Gert-Jan, Lochmüller, Hanns, and Beltran, Sergi

Published
2020
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25. DPD Quantification in Cardiac Amyloidosis: A Novel Imaging Biomarker

Author

Scully, Paul R., Morris, Elizabeth, Patel, Kush P., Treibel, Thomas A., Burniston, Maria, Klotz, Ernst, Newton, James D., Sabharwal, Nikant, Kelion, Andrew, Manisty, Charlotte, Kennon, Simon, Ozkor, Muhiddin, Mullen, Michael, Hartman, Neil, Elliott, Perry M., Pugliese, Francesca, Hawkins, Philip N., Moon, James C., and Menezes, Leon J.

Published
2020
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26. Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease

Author

Hu, Dan, Hu, Dong, Liu, Liwen, Barr, Daniel, Liu, Yang, Balderrabano-Saucedo, Norma, Wang, Bo, Zhu, Feng, Xue, Yumei, Wu, Shulin, Song, BaoLiang, McManus, Heather, Murphy, Katherine, Loes, Katherine, Adler, Arnon, Monserrat, Lorenzo, Antzelevitch, Charles, Gollob, Michael H., Elliott, Perry M., and Barajas-Martinez, Hector

Published
2020
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30. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Author

Norrish, Gabrielle, Ding, Tao, Field, Ella, Cervi, Elena, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Aris, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terrence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernández, Adrián, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E.F., Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H., Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J., Stuart, Graham, Vignati, Gabriele, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Luis, Adwani, Satish, Linter, Katie, Bharucha, Tara, Garcia-Pavia, Pablo, Siles, Ana, Rasmussen, Torsten B., Calcagnino, Margherita, Jones, Caroline B., De Wilde, Hans, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jens, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, O’Mahony, Costas, Omar, Rumana Z., Elliott, Perry M., and Kaski, Juan Pablo

Published
2022
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34. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Author

Germain, Dominique P., Elliott, Perry M., Falissard, Bruno, Fomin, Victor V., Hilz, Max J., Jovanovic, Ana, Kantola, Ilkka, Linhart, Aleš, Mignani, Renzo, Namdar, Mehdi, Nowak, Albina, Oliveira, João-Paulo, Pieroni, Maurizio, Viana-Baptista, Miguel, Wanner, Christoph, and Spada, Marco

Published
2019
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38. Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

Author

Cannie, Douglas E., primary, Protonotarios, Alexandros, additional, Bakalakos, Athanasios, additional, Syrris, Petros, additional, Lorenzini, Massimiliano, additional, De Stavola, Bianca, additional, Bjerregaard, Louise, additional, Dybro, Anne M., additional, Hey, Thomas M., additional, Hansen, Frederikke G., additional, Navarro Peñalver, Marina, additional, Crespo-Leiro, Maria G., additional, Larrañaga-Moreira, Jose M., additional, de Frutos, Fernando, additional, Johnson, Renee, additional, Slater, Thomas A., additional, Monserrat, Lorenzo, additional, Sengupta, Anshuman, additional, Mestroni, Luisa, additional, Taylor, Matthew R.G., additional, Sinagra, Gianfranco, additional, Bilinska, Zofia, additional, Solla-Ruiz, Itziar, additional, Arana Achaga, Xabier, additional, Barriales-Villa, Roberto, additional, Garcia-Pavia, Pablo, additional, Gimeno, Juan R., additional, Dal Ferro, Matteo, additional, Merlo, Marco, additional, Wahbi, Karim, additional, Fatkin, Diane, additional, Mogensen, Jens, additional, Rasmussen, Torsten B., additional, and Elliott, Perry M., additional

Published
2023
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40. Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

Author

Akhtar, Mohammed Majid, Lorenzini, Massimiliano, Cicerchia, Marcos, Ochoa, Juan Pablo, Hey, Thomas Morris, Sabater Molina, Maria, Restrepo-Cordoba, Maria Alejandra, Dal Ferro, Matteo, Stolfo, Davide, Johnson, Renee, Larrañaga-Moreira, José M., Robles-Mezcua, Ainhoa, Rodriguez-Palomares, Jose F., Casas, Guillem, Peña-Peña, Maria Luisa, Lopes, Luis Rocha, Gallego-Delgado, Maria, Franaszczyk, Maria, Laucey, Gemma, Rangel-Sousa, Diego, Basurte, Mayte, Palomino-Doza, Julian, Villacorta, Eduardo, Bilinska, Zofia, Limeres Freire, Javier, Garcia Pinilla, José M., Barriales-Villa, Roberto, Fatkin, Diane, Sinagra, Gianfranco, Garcia-Pavia, Pablo, Gimeno, Juan R., Mogensen, Jens, Monserrat, Lorenzo, and Elliott, Perry M.

Published
2020
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42. Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

Author

Cannie, Douglas E, primary, Syrris, Petros, additional, Protonotarios, Alexandros, additional, Bakalakos, Athanasios, additional, Pruny, Jean-François, additional, Ditaranto, Raffaello, additional, Martinez-Veira, Cristina, additional, Larrañaga-Moreira, Jose M, additional, Medo, Kristen, additional, Bermúdez-Jiménez, Francisco José, additional, Ben Yaou, Rabah, additional, Leturcq, France, additional, Mezcua, Ainhoa Robles, additional, Marini-Bettolo, Chiara, additional, Cabrera, Eva, additional, Reuter, Chloe, additional, Limeres Freire, Javier, additional, Rodríguez-Palomares, José F, additional, Mestroni, Luisa, additional, Taylor, Matthew R G, additional, Parikh, Victoria N, additional, Ashley, Euan A, additional, Barriales-Villa, Roberto, additional, Jiménez-Jáimez, Juan, additional, Garcia-Pavia, Pablo, additional, Charron, Philippe, additional, Biagini, Elena, additional, García Pinilla, José M, additional, Bourke, John, additional, Savvatis, Konstantinos, additional, Wahbi, Karim, additional, and Elliott, Perry M, additional

Published
2023
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44. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Author

Bichet, Daniel G., Christensen, Erik Ilsø, Correa-Rotter, Ricardo, Elliott, Perry M., Feriozzi, Sandro, Fogo, Agnes B., Germain, Dominique P., Hollak, Carla E.M., Hopkin, Robert J., Johnson, Jack, Kantola, Ilkka, Kopp, Jeffrey B., Kröner, Jürgen, Linhart, Aleš, Martins, Ana Maria, Matern, Dietrich, Mehta, Atul B., Mignani, Renzo, Najafian, Behzad, Narita, Ichiei, Nicholls, Kathy, Obrador, Greg T., Oliveira, João Paulo, Pisani, Antonio, Politei, Juan, Ramaswami, Uma, Ries, Markus, Terryn, Wim, Tøndel, Camilla, Torra, Roser, Vujkovac, Bojan, Waldek, Stephen, Walter, Jerry, Schiffmann, Raphael, Hughes, Derralynn A., Linthorst, Gabor E., Ortiz, Alberto, Svarstad, Einar, Warnock, David G., West, Michael L., and Wanner, Christoph

Published
2017
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45. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines

Author

Ommen, Steve R., Mital, Seema, Burke, Michael A., Day, Sharlene M., Deswal, Anita, Elliott, Perry, Evanovich, Lauren L., Hung, Judy, Joglar, José A., Kantor, Paul, Kimmelstiel, Carey, Kittleson, Michelle, Link, Mark S., Maron, Martin S., Martinez, Matthew W., Miyake, Christina Y., Schaff, Hartzell V., Semsarian, Christopher, and Sorajja, Paul

Published
2020
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46. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines

Author

Ommen, Steve R., Mital, Seema, Burke, Michael A., Day, Sharlene M., Deswal, Anita, Elliott, Perry, Evanovich, Lauren L., Hung, Judy, Joglar, José A., Kantor, Paul, Kimmelstiel, Carey, Kittleson, Michelle, Link, Mark S., Maron, Martin S., Martinez, Matthew W., Miyake, Christina Y., Schaff, Hartzell V., Semsarian, Christopher, and Sorajja, Paul

Published
2020
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47. Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy: Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies With Disease Severity and Family History

Author

Caforio, Alida L.P., Re, Federica, Avella, Andrea, Marcolongo, Renzo, Baratta, Pasquale, Seguso, Mara, Gallo, Nicoletta, Plebani, Mario, Izquierdo-Bajo, Alvaro, Cheng, Chun-Yan, Syrris, Petros, Elliott, Perry M., d’Amati, Giulia, Thiene, Gaetano, Basso, Cristina, Gregori, Dario, Iliceto, Sabino, and Zachara, Elisabetta

Published
2020
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50. Right ventricular function is a predictor for sustained ventricular tachycardia requiring anti-tachycardic pacing in arrhythmogenic ventricular cardiomyopathy: insight into transvenous vs. subcutaneous implantable cardioverter defibrillator insertion

Author

Honarbakhsh, Shohreh, primary, Protonotarios, Alexander, additional, Monkhouse, Christopher, additional, Hunter, Ross J, additional, Elliott, Perry M, additional, and Lambiase, Pier D, additional

Published
2023
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