Jiamin Xu,1,2,* Changshou Tan,3,* Jianzhou Chen,4 Jiaxin Hu1,2 

1Cardiovascular Disease Center, The Central Hospital of Enshi Tujia and Miao Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi, People’s Republic of China; 2Hubei Selenium and Human Health Institute, The Central Hospital of Enshi Tujia and Miao Autonomous Prefecture, Enshi, People’s Republic of China; 3Department of Interventional Radiology, the First Affiliated Hospital of Wannan Medical College, Wuhu, People’s Republic of China; 4Department of Cardiology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Jiaxin Hu, Email hjxlmy@outlook.com Jianzhou Chen, Email njucjz@126.com

Background: Hypertrophic cardiomyopathy (HCM) is a prevalent monogenic hereditary cardiovascular disorder caused by a mutation in one of the several sarcomere genes encoding components of the cardiac contractile system, distinguished by varied phenotypic presentation and fluctuating clinical advancement. HCM typically affects the left ventricle, resulting in impaired left ventricular function, instances of impaired right ventricular function are uncommon. This case study presents a rare occurrence of HCM accompanied by deteriorating right ventricular function, providing valuable insights for clinicians.
Case Presentation: Herein, we present a case study of an individual diagnosed with HCM utilizing next-generation sequencing (NGS). Over the disease course, the patient with hypertrophic cardiomyopathy also presented with sustained atrial fibrillation, characterized by progressive right ventricular dysfunction, resulting in the development of peripheral edema and ascites.
Conclusion: We report the case of a patient with non-obstructive HCM exhibiting progressive decline in right heart function, confirmed to have the c.470C>T (p.Ala157Val) mutation in exon 7 of the TNNI3 gene.

Keywords: hypertrophic cardiomyopathy, right heart failure, next generation sequencing, atrial fibrillation