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Updated: Aug 9, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Hereditary bundle branch system defect. A new genetic entity?

E Stéphan

    American Heart Journal
    |June 1, 1979
    PubMed

    Insights

    This study found that conduction abnormalities and heart block are inherited in an autosomal dominant pattern. These heart conditions manifest congenitally, with varying severity, and can lead to complete heart block later in life.

    Area of Science:

    • Cardiology
    • Genetics
    • Inherited cardiovascular diseases

    Background:

    • Familial surveys are crucial for understanding the inheritance patterns of cardiovascular diseases.
    • Conduction abnormalities and heart block can significantly impact cardiac function.
    • Mendelian inheritance provides a framework for studying genetic disorders within families.

    Observation:

    • Three large kindreds exhibited clear patterns of mendelian inheritance.
    • The trait demonstrated autosomal dominant inheritance with variable expressivity and penetrance.
    • A male preponderance and congenital onset were observed in affected individuals.

    Findings:

    • Key manifestations included right bundle branch block and left axis deviation.
    • Complete heart block was a late event, invariably developing from bilateral bundle branch block.
    • An r' pattern, indicative of right ventricular conduction delay, was noted.

    Implications:

    • Understanding the genetic basis of these conduction abnormalities is vital for early diagnosis and management.
    • This research highlights the importance of genetic counseling for families with a history of heart block.
    • Further investigation into the r' pattern may reveal new insights into cardiac conduction mechanisms.

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