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Unusual Cardiac Malformation in Holt-Oram Syndrome
並列摘要
The Holt-Oram syndrome denotes a developmental anomaly of the heart and the upper limbs. This syndrome is usually a familial disorder transmitted as an autosomal dominant trait with variable penetration. We report on a sporadic case involving this syndrome in a male newborn with unusual cardiac malformation: a complete endocardial cushion defect with a common atrium, common atrioventricular (AV) valve, and ventricular septal defect. This type of cardiac defect has rarely been reported in association with Holt-Oram syndrome. The clinical characteristics in our case are discussed and the literature is reviewed.
延伸閱讀
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