International medical case reports journal · 2025
Progressive Deterioration of the Right Ventricular Function in a Patient with Non-Obstructive HCM Complicated by Atrial Fibrillation: A Case Presentation.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Xu Jiamin, Tan Changshou, Chen Jianzhou, Hu Jiaxin
Аннотация
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.
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.