Call a Spade a Spade: Missed Diagnosis of Apical Hypertrophic Cardiomyopathy

Davis Leaphart1, Ashley Waring2, Pal Suranyi3

  • 1College of Medicine.

Insights

Apical hypertrophic cardiomyopathy presents subtly with ECG changes mimicking heart attacks. Diagnosis often requires advanced imaging like cardiac MRI, even decades after initial symptoms, highlighting challenges in early detection.

Area of Science:

  • Cardiology
  • Cardiovascular Imaging
  • Genetics

Background:

  • Apical hypertrophic cardiomyopathy (AHC) is a distinct form of hypertrophic cardiomyopathy.
  • Characterized by apical hypertrophy, deep T-wave inversions on ECG, and a unique "Ace of Spades" left ventriculogram.
  • Patients may be asymptomatic or present with chest pain, angina, or atrial fibrillation.

Observation:

  • Deep T-wave inversions on ECG can mimic acute coronary syndrome, complicating diagnosis.
  • Coronary angiograms are typically unrevealing in AHC.
  • Transthoracic echocardiograms may not detect apical hypertrophy, necessitating advanced imaging.

Findings:

  • The diagnosis of AHC is definitively established by a characteristic left ventriculogram.
  • Cardiac magnetic resonance imaging (CMR) and echo contrast imaging reliably confirm AHC and identify apical aneurysms.
  • The case highlights a 20-year diagnostic delay despite multiple cardiac investigations.

Implications:

  • Early and accurate diagnosis of AHC is crucial for appropriate patient management.
  • Advanced imaging techniques like CMR are vital for confirming AHC when standard tests are inconclusive.
  • Understanding the diagnostic challenges can improve clinical suspicion and timely identification of AHC.

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