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Cardiac arrest secondary to arrhythmogenic right ventricular cardiomyopathy in an adolescent male

Meryam Jan1, Michael S Shillingford1, Harma K Turbendian2

  • 1Wolfson Children's Hospital, Jacksonville, FL, USA.

Indian Pacing and Electrophysiology Journal
|June 18, 2022
PubMed

Insights

Arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare genetic heart condition, can present as sudden cardiac arrest in teens. Early diagnosis via genetic testing and prompt intervention like CPR and ICD placement are crucial for survival.

Area of Science:

  • Cardiology
  • Genetics
  • Clinical Medicine

Background:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare, inherited heart muscle disease.
  • It can lead to life-threatening arrhythmias and sudden cardiac death.
  • Genetic factors play a significant role in ARVC pathogenesis.

Observation:

  • A 17-year-old male experienced a witnessed cardiac arrest.
  • Initial echocardiogram and electrocardiogram (ECG) findings were inconclusive for a specific cause.
  • The patient was previously asymptomatic.

Findings:

  • Genetic testing identified mutations in PKP2 and DSC2 genes, confirming ARVC diagnosis.
  • The case illustrates ARVC presenting as an aborted sudden cardiac death in an adolescent.
  • Effective cardiopulmonary resuscitation (CPR) was vital for the patient's immediate survival.

Implications:

  • This case underscores the importance of considering ARVC in young individuals with unexplained cardiac arrest.
  • Genetic testing is essential for diagnosing ARVC, especially with ambiguous initial findings.
  • Implantable cardiac defibrillator (ICD) placement is indicated for secondary prevention in ARVC patients post-cardiac arrest.

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