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[Familial bradycardia: a family with sick sinus and atrioventricular block]
Insights
This study identifies sick sinus syndrome and conduction disturbances as an autosomal dominant trait in a family. Symptoms like Adams-Stokes episodes necessitated pacemaker implantation, with penetrance increasing with age.
Area of Science:
- Cardiology
- Genetics
- Electrophysiology
Context:
- Sick sinus syndrome (SSS) and conduction disturbances are significant cardiac arrhythmias.
- Familial aggregation of cardiac rhythm disorders suggests a genetic component.
Purpose:
- To investigate the inheritance pattern of sick sinus syndrome and conduction disturbances within a specific kindred.
- To characterize the clinical manifestations and genetic transmission of these arrhythmias.
Summary:
- A kindred with multiple affected members exhibiting sick sinus syndrome and conduction disturbances was studied.
- Findings suggest an autosomal dominant inheritance pattern for these rhythm disturbances, with age-dependent penetrance.
- Adams-Stokes episodes occurred in 6 patients, requiring pacemaker implantation. One patient presented with associated cardiomyopathy.
Impact:
- Provides evidence for a genetic basis of sick sinus syndrome and conduction disturbances.
- Highlights the importance of family history in diagnosing and managing these conditions.
- Informs genetic counseling and potential therapeutic strategies for affected families.
Abstract:
A kindred is described in which several members have evidence of sick sinus syndrome and of conduction disturbance. The data suggest that in this family the rhythm disturbances were transmitted as an autosomal dominant trait whose penetrance increase with age. The occurrence of Adams-Stokes episodes required pacemaker implantation in 6 patients. In one case the arrhythmia is associated with a cardiomyopathy of unknown origin. No pathological studies were conducted. In one case the His bundle electrogram was recorded.