[Cardiac manifestations in Fabry disease].

Area of Science:

• Genetics and Metabolism
• Cardiology
• Rare Diseases

Background:

• Fabry's disease is an X-linked inherited metabolic disorder.
• It is caused by deficient alpha-galactosidase A enzyme activity.
• Sphingolipid deposition affects multiple organs, with renal failure and cardiac involvement being common.

Observation:

• The study presents two brothers diagnosed with Fabry's disease.
• A comprehensive literature review on Fabry's disease was conducted.
• Both affected individuals exhibited significant electro- and echocardiographic abnormalities.

Findings:

• Patients presented with extensive cardiac findings on electrocardiography and echocardiography.
• These findings are indicative of left ventricular hypertrophy and conduction abnormalities.

Implications:

• Fabry's disease should be considered in men with unexplained left ventricular hypertrophy.
• Electrocardiographic findings, specifically a short PQ interval, may aid in early diagnosis.
• Prompt diagnosis is essential for managing this multisystemic disorder.