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Updated: Feb 23, 2026

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix
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[Fabry disease: An overlooked diagnosis in adult cardiac patients]

Meral Kayıkçıoğlu1, Evrim Şimşek, Sema Kalkan Uçar

  • 1Department of Cardiology, Ege University Faculty of Medicine, İzmir, Turkey. meral.kayikcioglu@gmail.com.

Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir
|September 14, 2017
PubMed

Insights

Fabry disease, a rare genetic disorder, causes harmful buildup of lipids. Early diagnosis and enzyme replacement therapy are crucial for managing cardiac symptoms and preventing irreversible damage.

Area of Science:

  • Genetics and rare diseases
  • Cardiology
  • Metabolic disorders

Background:

  • Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase deficiency.
  • This deficiency leads to globotriaosylceramide accumulation in various tissues, including the heart.
  • It is a multisystemic condition affecting males more severely, but females can also be afflicted.

Observation:

  • Cardiac manifestations include left ventricular hypertrophy, arrhythmias, and heart failure.
  • A specific variant presents solely as unexplained ventricular hypertrophy.
  • Two cases highlight the cardiac signs and symptoms of Fabry disease.

Findings:

  • The study describes two cases of Fabry disease focusing on cardiac involvement.
  • It emphasizes the progressive nature of cardiac damage due to lipid accumulation.
  • Early detection is key to initiating timely treatment.

Implications:

  • Prompt diagnosis of Fabry disease is vital for initiating enzyme replacement therapy.
  • Intervention before irreversible tissue damage can significantly improve patient outcomes.
  • Understanding cardiac manifestations aids in managing this rare genetic disorder.

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