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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.
Abstract:
Apical hypertrophic cardiomyopathy is a variant of hypertrophic cardiomyopathy characterized by apical hypertrophy, deep T-wave inversions in precordial electrocardiogram (EKG) leads, and a ventriculogram shaped like the "Ace of Spades." Patients are often asymptomatic but sometimes present with atypical chest pain, angina, or atrial fibrillation. The deep T-wave inversions on EKG often mimic acute coronary syndrome. Coronary angiogram in these patients is unrevealing, but the characteristic left ventriculogram establishes this diagnosis. The deep T-wave inversions can appear suddenly or deepen over years, making the diagnosis difficult to establish early in the disease. Transthoracic echocardiogram may miss the hypertrophied apex, but echo contrast imaging or cardiac magnetic resonance imaging can reliably confirm the diagnosis and detect apical aneurysms. We present a case of apical hypertrophic cardiomyopathy which was not evident despite many admissions, EKGs, cardiac catheterizations and echocardiograms until the diagnosis was confirmed with left ventriculogram and cardiac magnetic resonance imaging 20 years after initial presentation.
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