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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy

Jiaqi Dai1, Zongzhe Li1, Wei Huang2

  • 1Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Hubei Key Laboratory of Genetics and Molecular Mechanism of Cardiologic Disorders, Huazhong University of Science and Technology, Wuhan, China.

The Canadian Journal of Cardiology
|August 1, 2021
PubMed

Insights

The RNA binding motif protein 20 (RBM20) gene is implicated in hypertrophic cardiomyopathy (HCM). RBM20 variants increase the risk of sudden cardiac arrest in HCM patients.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • A significant portion of hypertrophic cardiomyopathy (HCM) cases have an unknown genetic cause.
  • The role of the RNA binding motif protein 20 (RBM20) gene in HCM and the clinical characteristics of RBM20 heterozygotes are not well understood.

Purpose of the Study:

  • To investigate the association between RBM20 variants and HCM.
  • To explore the clinical features and prognosis of RBM20 heterozygotes.

Main Methods:

  • Exome sequencing was performed on 793 HCM patients and 414 healthy controls.
  • A case-control approach using the optimal sequence kernel association test (SKAT-O) was employed to assess RBM20 association with HCM.
  • Genetic distribution, clinical features, and prognosis of RBM20 heterozygotes were compared with non-heterozygotes and dilated cardiomyopathy (DCM) heterozygotes.

Main Results:

  • RBM20 was identified as a susceptibility gene for HCM.
  • Patients with RBM20 variants showed a higher prevalence of sudden cardiac arrest (SCA) (6.7% vs 0.9%, P=0.001), increased sudden cardiac death risk factors, and impaired left ventricle systolic function.
  • RBM20 heterozygotes had higher incidences of resuscitated cardiac arrest, recurrent nonsustained ventricular tachycardia, and malignant arrhythmias.

Conclusions:

  • RBM20 is a potential causal gene for HCM.
  • RBM20 variants are associated with an elevated risk of SCA in HCM patients.
Abstract

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