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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Hypertrophic obstructive cardiomyopathy caused by Fabry disease: implications for surgical myectomy

Andrea Frustaci1, Valentino Borghetti2, Samuele Pentiricci3

  • 1IRCCS San Raffaele Rome, Rome, Italy.

ESC Heart Failure
|September 16, 2023
PubMed

Insights

Fabry disease (FD) can mimic hypertrophic obstructive cardiomyopathy. Genetic screening for FD before surgical septal myectomy is crucial to prevent heart failure and guide enzyme replacement therapy.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Hypertrophic obstructive cardiomyopathy (HOCM) can present as a phenotype of genetic storage disorders, notably Fabry disease (FD).
  • Early recognition of FD cardiomyopathy is critical for managing heart failure risk.
  • Surgical septal myectomy (SSM) is a treatment for severe HOCM, but carries risks.

Observation:

  • A 59-year-old man with severe HOCM unresponsive to medical therapy was referred for SSM.
  • Cardiac imaging did not reveal typical signs of FD cardiomyopathy.
  • Post-SSM, the patient developed acute renal and heart failure, prompting further investigation.

Findings:

  • Histological analysis of the resected septum showed features consistent with FD, including enlarged cardiomyocytes with Gb3 accumulation.
  • Biochemical tests confirmed low alpha-galactosidase A activity and elevated Lyso-Gb3 levels.
  • Genetic analysis identified a pathogenic mutation in the GLA gene, confirming FD.

Implications:

  • This case highlights the importance of considering FD in patients with HOCM, even without classic imaging findings.
  • Genetic screening for FD prior to SSM can prevent severe post-operative complications.
  • Timely diagnosis of FD allows for enzyme replacement therapy, potentially reducing heart failure progression.

Keywords:
Fabry diseaseObstructive cardiomyopathySurgical myectomy

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