Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report

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Eliza Jeanette McConnell1, James Every2, Michel Tchan3

  • 1Cardiology Department, Royal North Shore Hospital, Sydney, Australia.

European Heart Journal. Case Reports
|April 26, 2019
PubMed

Insights

Fabry disease, a genetic disorder, can affect the heart in women. This case shows progressive cardiac issues in a compound heterozygote despite enzyme replacement therapy.

Area of Science:

  • Genetics
  • Cardiology
  • Biochemistry

Background:

  • Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency.
  • Accumulation of sphingolipids affects multiple organs, including the heart.
  • Female heterozygotes can experience cardiac involvement, typically milder than in males.

Observation:

  • A 71-year-old female compound heterozygote with Fabry disease presented with progressive cardiac symptoms.
  • The patient had two distinct mutations (N215S, C202R).
  • Cardiac involvement persisted despite enzyme replacement therapy (ERT) with Replagal.

Findings:

  • Cardiovascular magnetic resonance (CMR) revealed moderate left ventricular dysfunction and wall thinning.
  • Low myocardial native T1 and extensive late gadolinium enhancement with increased T2 were observed.
  • Troponin elevation indicated ongoing cardiac damage.

Implications:

  • This case highlights progressive cardiac involvement in a compound heterozygote Fabry patient despite ERT.
  • Detailed cardiac phenotyping using CMR is crucial for understanding disease progression.
  • Further research is needed to optimize ERT strategies for complex Fabry disease genotypes.
Abstract

Keywords:
Cardiovascular magnetic resonanceCase reportFabryT1 mapping

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