Rare and common genetic variation underlying the risk of hypertrophic cardiomyopathy in a national biobank

KJ Biddinger, SJ Jurgens, D Maamari… - JAMA …, 2022 - jamanetwork.com
Lifetime risk of HCM, defined as the percent chance of a diagnosis of hypertrophic
cardiomyopathy … from MGB Biobank with high-quality genotyping-array and clinical data (eMethods …

[HTML][HTML] Variable penetrance in hypertrophic cardiomyopathy: in search of the holy grail

C Semsarian, CR Semsarian - Journal of the American College of …, 2020 - jacc.org
life expectancy to … disease-causing sarcomere variant, leading potentially to both prevention
and exacerbation of the clinical phenotype. In the current study, male sex and genotype (…

Contemporary insights into the genetics of hypertrophic cardiomyopathy: toward a new era in clinical testing?

F Mazzarotto, I Olivotto, B Boschi… - Journal of the …, 2020 - Am Heart Assoc
… of genetic associations, the need to manage the genotype‐negative HCM patient in a coherent
… relevant to our understanding of other cardiomyopathies and inherited cardiac diseases. …

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy

J Bonaventura, EJ Rowin, RH Chan… - Journal of the …, 2024 - Am Heart Assoc
cardiac sarcomere genes were first associated with the pathogenesis of hypertrophic
cardiomyopathy (… the relationship between genotype and clinical outcome in this complex disease. …

How common is hypertrophic cardiomyopathy… really?: Disease prevalence revisited 27 years after CARDIA

D Massera, MV Sherrid, MS Maron, EJ Rowin… - International Journal of …, 2023 - Elsevier
… reasonable expectation for normal or extended longevity [1]. … years ago – that offered insights
into HCM prevalence was the … may be required for genotype positive individuals to develop …

Genotype-phenotype taxonomy of hypertrophic cardiomyopathy

L Curran, A de Marvao, P Inglese… - Circulation: Genomic …, 2023 - Am Heart Assoc
… lower left ventricular mass, but greater basal septal hypertrophy, with reduced life span (mean
follow-up, 9.9 years) compared with genotype negative individuals (hazard ratio, 2.66 [95…

Association of race with disease expression and clinical outcomes among patients with hypertrophic cardiomyopathy

LA Eberly, SM Day, EA Ashley, DL Jacoby… - JAMA …, 2020 - jamanetwork.com
… inclusion in reference cohorts and insufficient genotyping of black patients with HCM. Thus,
… This study adds insight into the disease experience of HCM in black patients. Black patients …

The influence of genotype on the phenotype, clinical course, and risk of adverse events in children with hypertrophic cardiomyopathy

F Girolami, S Passantino, F Verrillo… - Heart Failure …, 2022 - heartfailure.theclinics.com
Hypertrophic cardiomyopathy (HCM) in children is rare and may present at any age, but …
Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: Insights from the …

Unraveling the genotype‐phenotype relationship in hypertrophic cardiomyopathy: obesity‐related cardiac defects as a major disease modifier

EE Nollet, BD Westenbrink, RA de Boer… - Journal of the …, 2020 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy and
is … However, the genotype‐phenotype relationship in HCM is incompletely understood and …

Hypertrophic cardiomyopathy: challenging the status quo?

J Younger, A Lo, L McCormack, J McGaughran… - Heart, Lung and …, 2020 - Elsevier
… who is genotype positive will develop HCM in their lifetime. If … mechanistic insights questioning
whether LV hypertrophy is … have been reported in genotype positive/phenotype negative …