Genotype-Negative Patients With Familial Hypertrophic Cardiomyopathy

JACC Advances, Journal Year: 2025, Volume and Issue: 4(5), P. 101730 - 101730

Published: April 25, 2025

A substantial proportion of hypertrophic cardiomyopathy (HCM) patients and negative genetic testing (Sarc-) have a positive family history HCM (FH), suggesting stronger component. The purpose this study was to assess whether Sarc-/FH+ differ from Sarc-/FH- gene-positive (Sarc+) in terms phenotype prognosis. Six hundred fifty-four underwent comprehensive clinical assessment testing, followed for median 6 years. 3 groups (Sarc-/FH-, Sarc-/FH+, Sarc+) were compared major arrhythmic events, heart failure, all-cause death, atrial fibrillation, stroke. Of the 654 patients, 182 (28%), 101 (15%), 371 Sarc+ (57%). similar Sarc+: they younger, with higher risk sudden cardiac death lower prevalence obstruction (age 43 [IQR: 23-53] years vs 39 23-52] years; P = 0.235; 19% obstructive 18%; 0.763) Sarc-/FH-. However, akin due female sex, burden cardiovascular factors, less prevalent late gadolinium enhancement at magnetic resonance imaging (for 26% 27%; 0.829; 50% 53%; 0.541), Sarc+. There no significant outcome differences, except incidence stroke (2.7% Sarc-/FH-, 1% 5.9% Sarc+, 0.046). represented 15% our cohort exhibited intermediate features between an interplay monogenic/oligogenic disease environmental factors. This population provides unique opportunity gene discovery understanding nongenetic modifiers HCM, deserving dedicated investigation.

Language: Английский

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Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 1, 2024

Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death. Genetic testing for HCM increasingly available due advances DNA sequencing technologies reduced costs. While diagnosis of well‐supported indication genetic counseling, incorporation services into the setting often limited outside expert centers. As counseling become accessible convenient, optimal integration genomic data care should be instituted, delivery via counseling. Drawing on recommendations from recent disease guidelines systematic evidence reviews, we highlight key This practice resource provides comprehensive framework guide healthcare providers process test selection, variant classification, cascade evaluation HCM.

Language: Английский

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Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(18), P. 9787 - 9787

Published: Sept. 10, 2024

Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM), dilated (DCM), and hypertrophic (HCM), represent a group of heart disorders that significantly contribute to cardiovascular morbidity mortality are often driven by genetic factors. Recent advances in next-generation sequencing (NGS) technology have enabled the identification rare variants both well-established minor genes associated with CMPs. Nowadays, set core is included diagnostic panels for ACM, DCM, HCM. On other hand, despite their lesser-known status, may disease mechanisms influence prognosis. This review evaluates current evidence supporting involvement CMPs, considering potential pathogenicity clinical significance. A comprehensive analysis databases, such as ClinGen, ClinVar, GeneReviews, along recent literature guidelines provides thorough overview landscape CMPs offers guidance practice, evaluating each case individually based on referral, insights future research. Given increasing knowledge these less understood factors, studies essential clearly assess roles, ultimately leading improved precision therapeutic strategies hereditary

Language: Английский

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The Apple May Fall Far From the Family Tree in Hypertrophic Cardiomyopathy

Journal of the American College of Cardiology, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 1, 2024

Language: Английский

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Genetics in clinical cardiology: the current state and opportunities ahead

Future Cardiology, Journal Year: 2024, Volume and Issue: 20(15-16), P. 815 - 818

Published: Nov. 14, 2024

Language: Английский

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Navigating The Complex Path From Monogenic to Polygenic Clinical Genetic Testing in Hypertrophic Cardiomyopathy

JACC Heart Failure, Journal Year: 2024, Volume and Issue: 12(12), P. 2053 - 2056

Published: Dec. 1, 2024

Language: Английский

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