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Hypertrophic cardiomyopathy in a patient with Down's syndrome

Gabriele Egidy Assenza1, Camillo Autore, Bruno Marino

  • 1Department of Cardiology, II Faculty of Medicine, University La Sapienza, Rome, Italy.

Journal of Cardiovascular Medicine (Hagerstown, Md.)
|May 16, 2007
PubMed

Insights

Hypertrophic cardiomyopathy is rare in Down's syndrome (DS). This study reports a rare case of apical hypertrophic cardiomyopathy in a 52-year-old male with DS, highlighting its potential occurrence in adults with the condition.

Area of Science:

  • Cardiology
  • Genetics
  • Down's Syndrome Research

Background:

  • Congenital heart defects are common in Down's syndrome (DS).
  • Hypertrophic cardiomyopathy (HCM) is exceptionally rare in individuals with DS, with only five prior cases documented.
  • Understanding cardiac manifestations beyond typical defects in DS is crucial.

Observation:

  • A 52-year-old male with Down's syndrome presented with non-obstructive cardiomyopathy.
  • Echocardiography revealed left ventricular hypertrophy predominantly affecting the apex.
  • This presentation aligns with previously reported rare instances of HCM in adult DS patients.

Findings:

  • The case represents a rare occurrence of hypertrophic cardiomyopathy in an individual with Down's syndrome.
  • The observed apical hypertrophy pattern is consistent with prior adult cases of HCM in DS.
  • This finding expands the known spectrum of cardiac conditions in adults with Down's syndrome.

Implications:

  • Clinicians should consider hypertrophic cardiomyopathy in the differential diagnosis of cardiac abnormalities in adults with Down's syndrome.
  • Further research is warranted to understand the specific mechanisms and prevalence of HCM in the DS population.
  • Early identification and management of HCM can improve cardiovascular outcomes for individuals with Down's syndrome.

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