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Fabry's disease with LVOT obstruction: diagnosis and management

Jacob R Blount1, James K Wu, Matthew W Martinez

  • 1University of South Florida Morsani College of Medicine, USF LVHN SELECT Program, Lehigh Valley Health Network, Tampa, Florida.

Journal of Cardiac Surgery
|September 3, 2013
PubMed

Insights

Genetic testing identified Fabry's disease, an HCM mimic, in a patient with severe left ventricular outflow tract obstruction. This case highlights genetic testing

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart condition.
  • Left ventricular outflow tract (LVOT) obstruction is a common complication of HCM.

Observation:

  • A 46-year-old male presented with symptoms of severe LVOT obstruction.
  • Initial diagnosis was HCM, but genetic testing revealed Fabry's disease.
  • The patient had no other clinical manifestations of Fabry's disease.

Findings:

  • Genetic testing is crucial for differentiating HCM mimics.
  • Fabry's disease can present solely with cardiac manifestations, mimicking HCM.
  • Surgical myectomy provided symptom relief for the patient.

Implications:

  • This case underscores the importance of genetic testing in diagnosing cardiac conditions.
  • Early diagnosis of Fabry's disease can guide appropriate management.
  • Recognizing HCM mimics prevents misdiagnosis and ensures timely, effective treatment.

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