Anomalous aortic origin of a coronary artery with an interarterial course: should family screening be routine?
OBJECTIVE
We sought to present cases of familial occurrence of anomalous aortic origin of a coronary artery with an interarterial course (AAOCA) to determine if it would alter our current screening and management recommendations.


BACKGROUND
Anomalous aortic origin of a coronary artery with an interarterial course is a rare congenital anomaly that carries an increased risk of sudden death in children and young adults. There are no reports in the literature of familial AAOCA in the pediatric population.


METHODS
In preparation for a multi-institutional prospective study evaluating patient management and surgical outcomes in children and young adults with AAOCA, a questionnaire was sent to multiple pediatric institutions in North and South America. Several respondents indicated caring for families with more than 1 member with AAOCA. These patients were identified and charts were retrospectively reviewed.


RESULTS
We identified 5 families in which a child was diagnosed with AAOCA and another family member was subsequently identified through screening with echocardiography. The odds of this occurring are significantly greater than what would be expected by chance. All identified by screening were asymptomatic and had anomalous right coronary artery despite 2 of the 5 index cases having anomalous left coronary artery.


CONCLUSIONS
It is possible that there is a genetic link for AAOCA. Future research into this is warranted. Due to the potential risk of myocardial ischemia and sudden death associated with AAOCA, screening first-degree relatives for AAOCA using transthoracic echocardiography would be the prudent approach to potentially prevent a sudden catastrophic event.
Brothers
Julie A
JA
Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. brothersj@email.chop.edu
Stephens
Paul
P
Gaynor
J William
JW
Lorber
Richard
R
Vricella
Luca A
LA
Paridon
Stephen M
SM
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003330:Coronary Vessel Anomalies / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology; D006801:Humans; D012850:Sinus of Valsalva / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014463:Ultrasonography