Chhabra Shibba Takkar, Singal Gautam, Gupta Anshuman, Aslam Naved, Wander Gurpreet Singh, Goyal Abhishek, Batta Akash, Tandon Rohit, Mohan Bishav
Department of Cardiology, DMC Hospital, Ludhiana, Punjab, India.
Int J Appl Basic Med Res. 2025 Jul-Sep;15(3):152-157. doi: 10.4103/ijabmr.ijabmr_10_25. Epub 2025 Aug 20.
Hypertrophic cardiomyopathy (HCM), associated with left ventricular hypertrophy, can lead to significant morbidity. Given the hereditary association, identifying population-specific genetic markers and gender disparities could enable better screening and management strategies.
The study aimed to observe the genetic patterns of HCM and investigate its gender associations among the Indian population.
A prospective analysis was performed based on the medical records of patients with HCM. Genetic testing was conducted among those with a family history of HCM or sudden cardiac death. Genetic testing results, echocardiography, and clinical outcomes were documented. The prevalence of HCM types and genetic abnormalities were estimated in the study population and were compared between the two genders.
The study included 103 patients with a mean age of 56.3 ± 13.9 years. Genetic analysis was conducted in 48/103 individuals based on the hereditary linkage. Only 50% of the 48 individuals had known genes associated with HCM. About 48% had apical or midapical HCM, and 31.1% had reverse curvature HCM. About 38% of apical and 60% of neutral or reverse curvature were associated with genetic abnormalities. The more commonly associated genes were MYBPC3 and MYH7. The current study also identified genetic variants in several emerging genes in Indian HCM patients.
Our study findings indicate that the prevalence of different types of HCM is different in the Indian population. With only 50% of the hereditary HCM linked to known genes, the study calls for further screening of genes associated with HCM in the Indian population.
肥厚型心肌病（HCM）与左心室肥厚相关，可导致严重的发病情况。鉴于其遗传关联性，识别特定人群的基因标志物和性别差异能够制定出更好的筛查和管理策略。
本研究旨在观察印度人群中HCM的遗传模式并调查其性别关联性。
基于HCM患者的病历进行前瞻性分析。对有HCM家族史或心源性猝死家族史的患者进行基因检测。记录基因检测结果、超声心动图及临床结局。在研究人群中估计HCM类型和基因异常的患病率，并在两性之间进行比较。
该研究纳入了103例患者，平均年龄为56.3±13.9岁。基于遗传连锁对103例中的48例个体进行了基因分析。48例个体中只有50%具有与HCM相关的已知基因。约48%患有心尖或心尖中部HCM，31.1%患有反曲型HCM。约38%的心尖型和60%的中性或反曲型与基因异常有关。较常见的相关基因是MYBPC3和MYH7。本研究还在印度HCM患者的几个新兴基因中发现了基因变异。
我们的研究结果表明，不同类型的HCM在印度人群中的患病率不同。由于只有50%的遗传性HCM与已知基因相关，该研究呼吁对印度人群中与HCM相关的基因进行进一步筛查。
