Why the study?
Data on the phenotype and genotype of hypertrophic cardiomyopathy in the Indian population remain limited.
Observational (n=113)
In an Indian cohort of hypertrophic cardiomyopathy patients, genotype positivity was associated with more severe hypertrophy and adverse clinical features, highlighting the value of genetic screening for risk stratification.
May support genetic screening for severe phenotypes in Indian HCM; hypothesis-generating for risk stratification utility.
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disorder characterized by left ventricular hypertrophy and variable clinical manifestations, including asymptomatic states and sudden cardiac death (SCD). Data on its phenotype and genotype in the Indian population remain limited. METHODS: We studied 113 patients diagnosed with HCM. All underwent clinical assessment, 24-h Holter monitoring, echocardiography, and cardiac MRI. Genetic testing was performed in 80 patients. Clinical and imaging features were compared between genotype-positive and genotype-negative groups. RESULTS: The mean age was 47 ± 10.8 years, with 82.6 % being males. Dyspnoea and chest pain were the most frequent symptoms. Obstructive HCM was seen in 70 (61.9 %) patients. Cardiac MRI showed late gadolinium enhancement >15 % in 13 (23.2 %) and apical aneurysms in 2 (3.5 %). Genetic mutations were detected in 40 (50 %) patients, with MYBPC3 (33 %) and MYH7 (26.8 %) being most common. Genotype-positive individuals more frequently had chest pain, a family history of SCD, and more severe hypertrophy. CONCLUSION: In this Indian HCM cohort, the condition predominantly affected males. Genotype-positive patients exhibited more severe hypertrophy and adverse clinical profiles, underscoring the importance of genetic screening in risk stratification.
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Gupta et al. (2025) conducted an observational in Hypertrophic cardiomyopathy (HCM) (n=113). Genotype-positive status vs. Genotype-negative status was evaluated on Clinical and imaging features (chest pain, family history of sudden cardiac death, severe hypertrophy).
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