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A Journal on Sports Medicine

Official Journal of the Italian Sports Medicine Federation
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Medicina dello Sport 2013 December;66(4):607-12

language: English, Italian

Ostium secundum atrial septal defect in a young athlete with a positive family history of sudden death

Ciccarone G. 1, Martelli G. 2, Ismael M. 1, Scalchi G. 3, Bilardo G. 3

1 Section of Sports Medicine, Unit of Primary Care, ULSS 2, Feltre, Belluno, Italy;
2 Performance Medical and Rehabilitative Center, Siena, Italy;
3 Operative Unit of Cardiology, ULSS 2, Feltre, Belluno, Italy


Ostium secundum atrial septal defect (ASDII) is a common congenital heart defect. We report a case of a 12-year old female athlete during a precompetitive sports medicine examination. All cardiorespiratory and orthopedic objective values were negative, as well as clinic-instrumental examinations, spirometry, resting ECG and the maximal ergometric test. Family history was positive for two young sudden deaths. Echocardiography showed an ostium secundum atrial septal defect (ASDII) with an initial volume overload of the heart right sections. Moreover it has been recently observed that ASDII resulted often associated with transcription factor NKX2.5 mutations. In this respect we could hypothesized, in our clinical case, a link between the athlete’s pathology and the two familiar sudden deaths, thus suggesting to carry on further genetic researches.

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