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Interruption of aortic arch type A in two siblings

T Nakada¹, S Yonesaka

¹Department of Pediatrics, Aomori Prefectural Central Hospital, Japan.

Acta Paediatrica Japonica : Overseas Edition

|February 1, 1996

Summary

Recurrence of interruption of aortic arch (IAA) in siblings is rare. This report details the first sibling cases of IAA type A, suggesting distinct recurrence risks from type B.

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Area of Science:

Cardiology
Genetics
Pediatric Surgery

Background:

Interruption of aortic arch (IAA) is a rare congenital heart defect.
Sibling recurrence of IAA is exceptionally uncommon.
Previous reports of familial IAA exclusively documented Type B.

Observation:

This study presents the first documented cases of brothers diagnosed with IAA Type A.
Confirmation of IAA Type A was established through autopsy in the elder brother and surgical findings in the younger brother.
The precise etiology of IAA in these siblings remains undetermined, with monogenic inheritance considered unlikely due to the absence of other congenital heart conditions in the family.

Findings:

This case series highlights the occurrence of Interruption of Aortic Arch Type A in siblings.
Autopsy and operative findings confirmed IAA Type A in both affected brothers.
The genetic basis for IAA Type A in siblings is not clearly understood and may differ from Type B.

Implications:

Genetic counseling for families with IAA should differentiate recurrence risks between Type A and Type B.
The findings underscore the possibility of familial recurrence for IAA Type A, contrary to previous assumptions.
Further research is warranted to elucidate the genetic and etiological factors contributing to IAA Type A recurrence in siblings.

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