Key result
TNNI3 mutation in non-obstructive HCM linked to progressive RV failure exacerbated by AF.
Why the study?
Hypertrophic cardiomyopathy typically affects left ventricular function, but instances of impaired right ventricular function are uncommon and not well characterized.
Case Report (n=1)
This case highlights that progressive right ventricular dysfunction can occur in patients with non-obstructive HCM and specific sarcomere mutations, leading to significant clinical deterioration.
May signal RV deterioration in non-obstructive HCM with TNNI3 mutation; hypothesis-generating and requires confirmation in larger cohorts.
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.
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Xu et al. (2025) conducted a case report in Non-obstructive hypertrophic cardiomyopathy (HCM) complicated by atrial fibrillation (n=1). TNNI3 c.470C>T (p.Ala157Val) mutation was evaluated on Right ventricular function deterioration. A patient with non-obstructive hypertrophic cardiomyopathy and a TNNI3 c.470C>T mutation experienced progressive right ventricular dysfunction and right heart failure exacerbated by atrial fibrillation.
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