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Hypertrophic cardiomyopathy with a large apical ventricular aneurysm and mural thrombus

Munis Raza1, Nagib Chalfoun2, Abdallah Wissam2

  • 1Grand Rapids Medical Education Partners/Michigan State University Internal Medicine Residency, Grand Rapids, Michigan.

Global Cardiology Science & Practice
|April 13, 2018
PubMed

Insights

This case report highlights a rare association between hypertrophic cardiomyopathy (HCM) and Williams-Beuren Syndrome. The study identifies a significant left ventricular apical aneurysm in an HCM patient, increasing risks for adverse cardiac events.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Hypertrophic cardiomyopathy (HCM) involves increased left ventricular wall thickness, raising the risk of sudden cardiac death (SCD) from arrhythmias.
  • Left ventricular apical aneurysms occur in about 2% of HCM patients, increasing risks for SCD, thromboembolism, and heart failure symptoms.

Observation:

  • Cardiac Magnetic Resonance (CMR) imaging is superior to echocardiography for detecting apical aneurysms in HCM.
  • This case presents a rare instance of hypertrophic cardiomyopathy co-occurring with Williams-Beuren Syndrome.

Findings:

  • CMR revealed a large apical aneurysm and mid-ventricular obstruction with an internal thrombus in the patient.
  • The apical aneurysm, akinetic or dyskinetic, elevates the risk of adverse events compared to general HCM.

Implications:

  • This case underscores the importance of advanced imaging like CMR in identifying complex HCM phenotypes.
  • Early detection and management of apical aneurysms and associated thrombi are crucial for preventing adverse outcomes in HCM patients, especially those with genetic syndromes.

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