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Familial hypertrophic cardiomyopathy complicated by complete atrioventricular block

Dilek Cicek1, Ahmet Camsari, Oben Doven

  • 1Mersin University, Medical Faculty, Cardiology Department, Mersin, Turkey. drdilekcicek@hotmail.com

Acta Cardiologica
|March 20, 2004
PubMed

Insights

This study details a family with non-obstructive hypertrophic cardiomyopathy, where one member experienced complete atrioventricular block. Variable arrhythmia expression in the family suggests penetrance influences the hypertrophic cardiomyopathy phenotype.

Area of Science:

  • Cardiology
  • Genetics
  • Electrophysiology

Background:

  • Familial hypertrophic cardiomyopathy (HCM) is a genetic condition affecting heart muscle.
  • Complete atrioventricular block is a serious cardiac arrhythmia requiring intervention.
  • Understanding genetic influences on HCM phenotype is crucial for patient management.

Observation:

  • A 27-year-old male presented with syncope due to complete atrioventricular block and non-obstructive HCM.
  • Family screening revealed non-obstructive HCM in relatives, but without atrioventricular block.
  • Electrophysiological study in the mother showed inducible ventricular tachycardia.

Findings:

  • The patient required urgent pacemaker implantation for complete atrioventricular block.
  • Non-obstructive hypertrophic cardiomyopathy was present across multiple family members.
  • Arrhythmia diversity within the family suggests variable penetrance of the genetic defect.

Implications:

  • Penetrance, influenced by factors like age and gender, affects the clinical expression of familial HCM.
  • This case highlights the varied cardiac manifestations within families affected by HCM.
  • Further research into genetic modifiers of HCM is warranted for personalized risk assessment.

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