{"title":"心异位合并多种先天性畸形:罕见但真实。","authors":"Shruti Thakur, Sumala Kapila, Charu Smita Thakur, Narender Thakur","doi":"10.1007/s40477-025-01023-w","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":51528,"journal":{"name":"Journal of Ultrasound","volume":" ","pages":""},"PeriodicalIF":1.3000,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Ectopia cordis with multiple congenital malformations: rare but real.\",\"authors\":\"Shruti Thakur, Sumala Kapila, Charu Smita Thakur, Narender Thakur\",\"doi\":\"10.1007/s40477-025-01023-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":51528,\"journal\":{\"name\":\"Journal of Ultrasound\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2025-04-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Ultrasound\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s40477-025-01023-w\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Ultrasound","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s40477-025-01023-w","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
Ectopia cordis with multiple congenital malformations: rare but real.
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.
期刊介绍:
The Journal of Ultrasound is the official journal of the Italian Society for Ultrasound in Medicine and Biology (SIUMB). The journal publishes original contributions (research and review articles, case reports, technical reports and letters to the editor) on significant advances in clinical diagnostic, interventional and therapeutic applications, clinical techniques, the physics, engineering and technology of ultrasound in medicine and biology, and in cross-sectional diagnostic imaging. The official language of Journal of Ultrasound is English.