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Fabry disease with early-onset ventricular dilation: A case report
Medicine
|September 29, 2020
Summary
Fabry disease (FD) can cause rapid cardiac progression, including ventricular dilation. Early screening for FD is crucial in patients with unexplained cardiac issues, especially those with typical FD symptoms.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Fabry disease (FD) commonly presents with left ventricular hypertrophy (LVH), typically in males over 30.
- Ventricular dilation is a rare, late-stage cardiac manifestation of FD.
Observation:
- A 16-year-old male presented with extremity pain and chest distress, revealing ventricular dilation on imaging.
- Diagnosis of FD was confirmed via enzyme assay and GLA gene sequencing, identifying a novel mutation (c.76_77insT).
Findings:
- The patient received metoprolol and an ACE inhibitor, refusing enzyme replacement therapy.
- After 20 months, cardiac function and renal health remained stable; symptom improvement (pain, chest distress) was gradual, beginning around 24 months.
Implications:
- FD cardiac involvement can progress rapidly, necessitating prompt diagnosis.
- Screening for FD should be considered in unexplained ventricular dilation, particularly with co-occurring typical FD symptoms.
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