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Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis

Jiwon Seo1, Minji Kim1, Geu-Ru Hong1

  • 1Division of Cardiology, Department of Internal Medicine, Severance Cardiovascular Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

Journal of Human Genetics
|May 27, 2016
PubMed

Insights

A new screening tool helps identify patients with Fabry disease (FD) among those with hypertrophic cardiomyopathy (HCM). This method is sensitive and applicable for detecting FD risk in HCM patients.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Hypertrophic cardiomyopathy (HCM) can present with overlapping features with other genetic disorders.
  • Early diagnosis of Fabry disease (FD) is crucial for timely intervention and management.
  • Existing screening methods for FD in HCM patients may lack sensitivity or applicability.

Purpose of the Study:

  • To develop and validate easily applicable and highly sensitive screening criteria for detecting Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM).

Main Methods:

  • Prospective study of 273 consecutive unrelated patients referred to an HCM clinic.
  • Development of new screening criteria: atypical HCM, arrhythmia history, short PR interval (<120 ms), and autonomic dysfunction symptoms.
  • Assay of plasma α-galactosidase A (α-GAL A) activity and GLA gene mutation analysis for all patients.

Main Results:

  • Three unrelated patients (4.6%) were newly diagnosed with FD (2 females, 1 male) based on α-GAL A activity and genetic testing.
  • The proposed screening criteria identified 65 high-risk patients.
  • Prevalence of FD was 4.6% if at least one criterion was met and 18.8% if three or more criteria were met.

Conclusions:

  • The newly developed screening criteria are easily applicable and highly sensitive for identifying patients at high risk of Fabry disease within a hypertrophic cardiomyopathy cohort.
  • This approach facilitates earlier detection and management of FD in individuals with unexplained left ventricular hypertrophy.

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