Ectopia cordis with multiple congenital malformations: rare but real

异位心伴多发性先天性畸形:罕见但真实存在

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Abstract

Ectopia cordis is a rare congenital defect where in a portion or the entire heart is mispositioned outside the thoracic cage. The exact cause is not clear. It may present as an isolated anomaly or may be associated with other congenital malformations. Once detected on antenatal sonography, a detailed anatomical and high-quality cardiac scan of the fetus is warranted. The prognosis is poor, and most infants are stillborn or die in early neonatal life. Early diagnosis is essential as it has consequences on the method of termination of pregnancy and its safety profile. We report a case of ectopia cordis with associated multiple congenital malformations that included ventriculomegaly, omphalocele with herniation of liver and intestines, and bilateral clubfeet. In view of the scarcity of data regarding this unusual condition and its association with multiple anatomic defects and limited clinical experience with its management, medical termination of pregnancy is desirable.

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