Related Experiment Videos

[Familial complete atrioventricular block in patients with hypertrophic cardiomyopathy]

F M Albanesi Filho1, P Ginefra, M B Castier

  • 1Hospital Universitário Pedro Ernesto, UERJ.

Insights

This study details a rare familial link between hypertrophic cardiomyopathy and spontaneous complete heart block. Pacemaker implantation successfully managed symptoms in three affected family members.

Area of Science:

  • Cardiology
  • Genetics
  • Electrophysiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease.
  • Spontaneous complete heart block is an uncommon cardiac conduction abnormality.
  • The co-occurrence of HCM and heart block within families is exceptionally rare.

Observation:

  • Three male patients from the same family (brothers and nephew), aged 19-41, presented with confirmed hypertrophic cardiomyopathy.
  • Diagnostic confirmation involved hemodynamic and angiographic assessments.
  • All affected individuals developed spontaneous complete heart block.

Findings:

  • All three patients received permanent cardiac pacemaker implantation for heart block.
  • Following pacemaker implantation, patients became asymptomatic.
  • Long-term follow-up (157-176 months) showed sustained asymptomatic status in patients aged 33-55.

Implications:

  • This case series highlights a potential genetic link between HCM and conduction system disease.
  • Permanent pacemaker implantation is an effective treatment for heart block in HCM patients.
  • Further research into the genetic underpinnings of this association is warranted.

Related Concept Videos