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Apical hypertrophic cardiomyopathy in encephalomyopathy

Josef Finsterer1, Wolfgang Kopsa, Claudia Stöllberger

  • 1Krankenanstalt Rudolfstiftung, Vienna, Austria. duarte@aonmail.at

Journal of Cardiovascular Medicine (Hagerstown, Md.)
|December 29, 2007
PubMed

Insights

Apical hypertrophic cardiomyopathy (AHC) can present mildly and be linked to various extracardiac issues. This case highlights AHC

Area of Science:

  • Cardiology
  • Neurology
  • Metabolic Disorders

Background:

  • Apical hypertrophic cardiomyopathy (AHC) is a cardiac condition with known associations with neurological abnormalities.
  • The co-occurrence of AHC and metabolic myopathy has not been previously documented.
  • Metabolic myopathies are a group of inherited disorders affecting muscle energy production.

Observation:

  • An 84-year-old woman presented with a complex history of neurological and systemic symptoms including gait disturbance, dementia, Parkinsonism, ptosis, ophthalmoparesis, tetraparesis, polyneuropathy, lactacidosis, polyarthralgia, dorsalgia, and osteoporosis.
  • Cardiac evaluation revealed electrocardiogram (ECG) abnormalities, diastolic dysfunction, and apical hypertrophic cardiomyopathy (AHC) on transthoracic echocardiography.
  • Cardiac magnetic resonance imaging confirmed AHC and identified a small left ventricular apical aneurysm.

Findings:

  • The patient exhibited a mild form of apical hypertrophic cardiomyopathy (AHC) alongside a constellation of multisystemic extracardiac abnormalities.
  • The clinical presentation suggested an underlying metabolic disease, likely related to impaired oxidative metabolism.
  • This case represents the first reported instance of AHC associated with metabolic myopathy.

Implications:

  • Apical hypertrophic cardiomyopathy (AHC) may manifest with a milder cardiac phenotype than previously recognized.
  • The findings suggest a potential link between AHC and systemic metabolic disorders, warranting further investigation.
  • This case underscores the importance of considering multisystem involvement in patients diagnosed with AHC.

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