2,405 pubs · 109,885 cites · h-index 165
Circulation Genomic and Precision MedicineGarcía-Hernández et al.cohort
Hypothesis-generating for cumulative burden in MYBPC3 carriers; prospective validation needed before clinical adoption.
JACCMurphy et al.cohort
AMP kinase (PRKAG2) disease is an uncommon cause of hypertrophic cardiomyopathy characterized by 100% ECG penetrance by age 18, progressive conduction disease frequently requiring permanent pacing, and extracardiac skeletal myopathy.
JACCKubo et al.cohort
May inform HCM risk stratification; extends genetic-phenotypic links but leaves management implications open pending prospective data.
JACCPurevjav et al.preclinical
Identifies NEBL as a novel susceptibility gene for endocardial fibroelastosis and dilated cardiomyopathy.
Cardiac Imaging · St Bartholomew's Hospital
The 15mm threshold for diagnosing HCM was established in 1973 using M-mode echocardiography and just 79 control patients. Today, with access to large-scale datasets and AI capabilities, we can finally re-examine these decades-old assumptions. Our study analyzed more than 50,000 cardiac MRIs using AI to make precise measurements at a scale never before possible. A measurement that would be concerning in a small-framed young woman might be perfectly normal for a tall, older man.
Journal of the American College of CardiologyMcKenna et al.
Revista Española de Cardiología (English Edition)Serrano et al.cohort
Supports cautious genetic counseling for carriers; leaves open whether lower event rates generalize beyond this founder population.
JACCLinde et al.RCT
Biventricular pacing provides sustained improvements in functional capacity, quality of life, and left ventricular function over 12 months in patients with NYHA class III heart failure and intraventricular conduction delay.
JACCMestroni et al.Cohort Study
Clinical review reveals genetic mechanisms and phenotypic heterogeneity in familial dilated cardiomyopathy, highlighting the importance of family screening.
JACCCrilley et al.Original Research
Observational study demonstrates reduced myocardial energy status across sarcomeric mutation carriers, indicating that metabolic impairment precedes cardiac hypertrophy.
JACCCorrado et al.case_series
ARVC frequently involves the left ventricle (76% of cases), which is associated with older age, arrhythmias, and heart failure, indicating it is a progressive disease not isolated to the right ventricle.
JACCO’Hanlon et al.Prognostic Study
Cohort study reveals higher risk of adverse cardiac events in hypertrophic cardiomyopathy patients with fibrosis, highlighting late gadolinium enhancement for risk stratification.
JACCElliott et al.cohort
In HCM patients surviving VT/VF, recurrent events are common, and ICD therapy appears to offer the best potential benefit for survival.
EHJLorenzoni et al.cross-sectional
Does not support coronary vasodilator reserve as a determinant of syncope or NSVT in hypertrophic cardiomyopathy; leaves open other contributors to sudden death risk.
JACCSharma et al.Original Research
May aid differentiation of cardiac conditions in athletes; leaves open larger validation before practice change.
EHJFinocchiaro et al.review
May inform genotype-guided risk stratification in cardiomyopathies; leaves open prospective trials validating personalized integration with evidence-based care.
CirculationRichardson et al.Original Research
Pediatric / Congenital Cardiology · St. Jude Children's Research Hospital
Our study indicates that variants in ANKRD1 result in dysfunction of the contraction apparatus and signaling machinery of the heart – the method by which cells communicate to influence heart function. This clarifies the mechanisms by which these inherited mutations cause disease in a subset of DCM patients.
Journal of the American College of CardiologyMoulik et al.
JACCGigli et al.cohort
May refine arrhythmic risk stratification in DCM beyond LVEF; leaves open whether genotype guides ICD decisions.
JACCSen‐Chowdhry et al.Cohort Study
May inform fibrosis-based risk stratification in left-dominant arrhythmogenic cardiomyopathy; leaves open need for prospective validation before practice change.
