[Fabry disease among hypertrophic cardiomyopathy of genetic origin].

Rev Med Interne

Laboratoire Cardiogénétique, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France.

Published: December 2010

AI Article Synopsis

  • Primary hypertrophic cardiomyopathy (HCM) occurs in about 1 in 500 people due to mutations in genes that code for sarcomeric proteins, with nearly half of cases linked to four key genes: MYBPC3, MYH7, TNNI3, and TNNT2.
  • Fabry disease can manifest as HCM, particularly in males, and is characterized by non-specific cardiac symptoms, with a prevalence of around 6% in male HCM cases; diagnosing it in females can involve examining myocardial biopsies for specific markers.
  • Cases of common HCM with atypical ECG findings may indicate Fabry disease, emphasizing the need for systematic screening in males and careful familial history assessments in females to understand the

Article Abstract

Primary hypertrophic cardiomyopathy is a relatively frequent disease (1/500) which results from a mutation in a gene encoding a sarcomeric protein. In a series of 184 cases, nearly half (46 %) were secondary to a mutation in one of the 4 following genes : MYBPC3, MYH7, TNNI3, TNNT2. In Fabry disease, an exclusive or nearly exclusive cardiac expression is possible and referred to as "cardiac variant". The hypertrophic cardiomyopathy of Fabry disease is usually unspecific. Two series reported a prevalence of Fabry disease of about 6% among male cases. An Italian series of 34 female cases with hypertrophic cardiomyopathy demonstrated that it was feasible to diagnose Fabry disease in females by screening for specific lesions in myocardial biopsies. We detected a patient who initially presented with a common hypertrophic cardiomyopathy except that his ECG showed depression of ST segment and inversion of T wave in leads D1, VL and in precordial leads. The family history revealed several affected relatives and female carriers. In conclusion, an isolated common hypertrophic cardiomyopathy may be secondary to Fabry disease. Male patients should be screened systemically for enzyme defect except in cases of father-to-son transmission. In females, an affected male relative should be searched for screening or the GLA gene should be sequenced. It is important to think about a putative Fabry disease in cases with hypertrophic cardiomyopathy not associated with any obvious cause.

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http://dx.doi.org/10.1016/S0248-8663(10)70019-9DOI Listing

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