Clinical features, imaging characteristics, and genetic profile of hypertrophic cardiomyopathy patients in India.

IF 1.8 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS

Indian heart journal Pub Date : 2025-07-15 DOI:10.1016/j.ihj.2025.07.004

Mohit Dayal Gupta, Brijesh Kumar, Shekhar Kunal, Varun Sharma, Girish Mp, Ankit Bansal, Vishal Batra, Dixit Goyal, Bhawna Mahajan, Pranav Gupta, Sandeep Kadyan, Kalpana Bansal, Poonam Narang, Rakesh Yadav, Nitish Naik, Jamal Yusuf

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引用次数: 0

Abstract

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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印度肥厚性心肌病患者的临床特征、影像学特征和遗传谱。

背景：肥厚性心肌病（HCM）是一种常染色体显性遗传病，以左心室肥厚和多种临床表现为特征，包括无症状状态和心源性猝死（SCD）。关于其在印度人群中的表型和基因型的数据仍然有限。方法：对113例HCM患者进行研究。所有患者均接受了临床评估、24小时动态心电图监测、超声心动图和心脏MRI检查。对80例患者进行了基因检测。比较基因型阳性组和基因型阴性组的临床和影像学特征。结果：平均年龄47±10.8岁，男性占82.6%。呼吸困难和胸痛是最常见的症状。梗阻性HCM患者70例（61.9%）。心脏MRI示晚期钆强化13例（23.2%），顶端动脉瘤2例（3.5%）。40例（50%）患者检测到基因突变，其中MYBPC3（33%）和MYH7（26.8%）最为常见。基因型阳性个体更常出现胸痛、SCD家族史和更严重的肥厚。结论：在这个印度HCM队列中，这种疾病主要影响男性。基因型阳性患者表现出更严重的肥大和不良的临床表现，强调了遗传筛查在风险分层中的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Indian heart journal CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

2.60

自引率

6.70%

发文量

审稿时长

52 days

期刊介绍： Indian Heart Journal (IHJ) is the official peer-reviewed open access journal of Cardiological Society of India and accepts articles for publication from across the globe. The journal aims to promote high quality research and serve as a platform for dissemination of scientific information in cardiology with particular focus on South Asia. The journal aims to publish cutting edge research in the field of clinical as well as non-clinical cardiology - including cardiovascular medicine and surgery. Some of the topics covered are Heart Failure, Coronary Artery Disease, Hypertension, Interventional Cardiology, Cardiac Surgery, Valvular Heart Disease, Pulmonary Hypertension and Infective Endocarditis. IHJ open access invites original research articles, research briefs, perspective, case reports, case vignette, cardiovascular images, cardiovascular graphics, research letters, correspondence, reader forum, and interesting photographs, for publication. IHJ open access also publishes theme-based special issues and abstracts of papers presented at the annual conference of the Cardiological Society of India.