K. Zych-Krekora, A. Wójtowicz, M. Krekora, M. Słodki, Hugues Gentillon, M. Respondek-Liberska
{"title":"病例报告。马凡氏综合征胎儿纵向回声监测对围产期管理的帮助——病例报告及文献复习","authors":"K. Zych-Krekora, A. Wójtowicz, M. Krekora, M. Słodki, Hugues Gentillon, M. Respondek-Liberska","doi":"10.1515/pcard-2016-0010","DOIUrl":null,"url":null,"abstract":"Abstract It was the second pregnancy of an otherwise healthy married couple. The fetus (male) had detailed echocardiography monitoring in the second half of the pregnancy due to progression of cardiomegaly, and echocardiographic features of congestive heart failure. Marfan syndrome was suspected based on cardiac anomalies. For the first time, the rupture of aneurysm of aortic sinus Valsalva was documented. Despite transplacental treatment with digoxin there was fetal demise at the 34th week of gestation and postmortem newborn phenotype confirmed prenatal diagnosis. Marfan Syndrome is a rare genetic anomaly which can be diagnosed prenatally by detailed echocardiography, usually with bad prognosis (just opposite to “benign” case diagnosed later on in life span). The most common prenatal cardiac manifestations are cardiomegaly with signs of cardiac insufficiency. We present the case with new echocardiographic features.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"57 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Case report. Longitudinal Echo Monitoring in Fetus with Phenotypical Marfan Syndrome, Helpfull for Perinatal Management - Case Presentation and Literature Review\",\"authors\":\"K. Zych-Krekora, A. Wójtowicz, M. Krekora, M. Słodki, Hugues Gentillon, M. Respondek-Liberska\",\"doi\":\"10.1515/pcard-2016-0010\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract It was the second pregnancy of an otherwise healthy married couple. The fetus (male) had detailed echocardiography monitoring in the second half of the pregnancy due to progression of cardiomegaly, and echocardiographic features of congestive heart failure. Marfan syndrome was suspected based on cardiac anomalies. For the first time, the rupture of aneurysm of aortic sinus Valsalva was documented. Despite transplacental treatment with digoxin there was fetal demise at the 34th week of gestation and postmortem newborn phenotype confirmed prenatal diagnosis. Marfan Syndrome is a rare genetic anomaly which can be diagnosed prenatally by detailed echocardiography, usually with bad prognosis (just opposite to “benign” case diagnosed later on in life span). The most common prenatal cardiac manifestations are cardiomegaly with signs of cardiac insufficiency. We present the case with new echocardiographic features.\",\"PeriodicalId\":415760,\"journal\":{\"name\":\"Prenatal Cardiology\",\"volume\":\"57 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Prenatal Cardiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1515/pcard-2016-0010\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Prenatal Cardiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1515/pcard-2016-0010","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Case report. Longitudinal Echo Monitoring in Fetus with Phenotypical Marfan Syndrome, Helpfull for Perinatal Management - Case Presentation and Literature Review
Abstract It was the second pregnancy of an otherwise healthy married couple. The fetus (male) had detailed echocardiography monitoring in the second half of the pregnancy due to progression of cardiomegaly, and echocardiographic features of congestive heart failure. Marfan syndrome was suspected based on cardiac anomalies. For the first time, the rupture of aneurysm of aortic sinus Valsalva was documented. Despite transplacental treatment with digoxin there was fetal demise at the 34th week of gestation and postmortem newborn phenotype confirmed prenatal diagnosis. Marfan Syndrome is a rare genetic anomaly which can be diagnosed prenatally by detailed echocardiography, usually with bad prognosis (just opposite to “benign” case diagnosed later on in life span). The most common prenatal cardiac manifestations are cardiomegaly with signs of cardiac insufficiency. We present the case with new echocardiographic features.