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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Prevalence and Clinical Characteristics of Fabry Disease in Chinese Patients With Hypertrophic Cardiomyopathy

Yan Xiao1, Yang Sun2, Tao Tian1

  • 1Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

The American Journal of the Medical Sciences
|July 16, 2021
PubMed

Insights

Fabry disease (FD) affects 0.93% of Chinese hypertrophic cardiomyopathy (HCM) patients. Early genetic screening and treatments like migalastat improve outcomes for FD-HCM patients.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Prevalence of Fabry disease (FD) in Chinese patients with hypertrophic cardiomyopathy (HCM) is not well-established.
  • HCM is a common cardiac condition, and FD is a rare genetic disorder with cardiac manifestations.

Purpose of the Study:

  • To determine the prevalence of FD in Chinese patients diagnosed with HCM.
  • To characterize the clinical presentation and outcomes of FD in this patient cohort.

Main Methods:

  • Next-generation sequencing was used to screen 217 Chinese HCM patients for FD.
  • Analysis included genetic testing, enzyme activity, electrocardiography, echocardiography, cardiac MRI, and pathological examination.

Main Results:

  • Two FD probands (0.93%) were identified among 217 HCM patients.
  • Both presented with symptomatic obstructive HCM, dual ventricular hypertrophy, and conduction disease; one had renal failure and stroke.
  • Family studies revealed carriers and sudden cardiac deaths, indicating significant genetic impact.

Conclusions:

  • Fabry disease is an underdiagnosed cause of HCM in Chinese patients.
  • Clinical features like dual ventricular hypertrophy and conduction disease warrant genetic screening for FD.
  • Early diagnosis and interventions, including surgical septal myectomy and migalastat, improve patient prognosis.
Abstract

Keywords:
Fabry diseaseGLAHypertrophic cardiomyopathyMigalastatRight ventricular hypertrophySurgical septal myectomy

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