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Interrupted aortic arch in two siblings

J Buch, A Wennevold, F Efsen

    Acta Paediatrica Scandinavica
    |November 1, 1980
    PubMed
    Summary
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    Identical congenital heart defects, including interrupted aortic arch, were observed in siblings. Further genetic studies are needed to understand the inheritance patterns of these rare cardiac malformations.

    Area of Science:

    • Cardiology
    • Medical Genetics
    • Pediatric Congenital Heart Disease

    Background:

    • Congenital heart defects (CHDs) represent a significant cause of infant mortality and morbidity worldwide.
    • Interrupted aortic arch (IAA) is a rare and severe CHD, often associated with other cardiac anomalies.
    • Understanding the genetic basis of CHDs is crucial for accurate diagnosis and family counseling.

    Observation:

    • Two siblings presented with identical complex cardiac malformations: complete interruption of the aortic arch (IAA) type B, ventricular septal defect (VSD), patent ductus arteriosus (PDA), and anomalous origin of the right subclavian artery.
    • A cohort of five unrelated patients with IAA, diagnosed between 1971 and 1979, was also investigated.
    • Among the six siblings of these five patients, one exhibited coarctation of the aorta, while the remaining five were unaffected.

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    Findings:

    • The occurrence of identical complex CHDs in siblings suggests a potential genetic predisposition or shared environmental factors.
    • The familial recurrence, though rare, highlights the importance of considering genetic counseling for affected families.
    • The observed spectrum of related cardiac anomalies in siblings of IAA patients warrants further investigation.

    Implications:

    • Elucidating the genetic underpinnings of interrupted aortic arch and associated anomalies is essential for improving genetic counseling.
    • Early identification and understanding of genetic risks can lead to better management strategies for congenital heart diseases.
    • Longitudinal studies and collaborative data collection are vital for advancing the understanding of rare CHD genetics.