What question did this study set out to answer?

To describe the clinical presentation and inheritance pattern of familial sinus node dysfunction associated with cognitive impairment.

November 1, 1978HeartOpen Access

Familial sinus node dysfunction with autosomal dominant inheritance.

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To describe the clinical presentation and inheritance pattern of familial sinus node dysfunction associated with cognitive impairment.
Evaluated a large multi-generational family pedigree spanning three generations.
Assessed cardiac conduction parameters and cognitive function across affected and unaffected family members.
Demonstrated an autosomal dominant inheritance pattern of sinus node dysfunction across three generations.
Identified a direct correlation between the grade of mental retardation and the severity of the sinoatrial disorder.

Population

A large family with sinus node dysfunction spanning three generations

Outcome

Association between the grade of mental retardation and the severity of the sinoatrial disorder

This report identifies a familial form of sinus node dysfunction with autosomal dominant inheritance and an association with mental retardation.

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May suggest syndromic link in rare pedigrees; leaves open confirmation in larger genetic studies.

Lehmann et al. (1978) studied this question.

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