Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome
We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy. The fetus had multiple systemic anomalies including fetal heart. Fetal...
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2014-02-01
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doaj-5b00c5811bb34d94b1a44a05da1512582021-01-19T07:05:54ZengKARE PublishingTürk Kardiyoloji Derneği Arşivi1016-51692014-02-0142218218510.5543/tkda.2014.71173TKDA-71173Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndromeSeçil Kurtulmuş0Savaş Demirpençe1Deniz Can Öztekin2Altuğ Koç3Vedide Tavlı4Department of Maternity and Gynecology, Ege Training and Research Hospital, IzmirDepartment of Pediatric Cardiology, Dr. Behçet Uz Training and Research Hospital, Pediatric Diseases and Surgery, IzmirDepartment of Maternity and Gynecology, Ege Training and Research Hospital, IzmirDepartment of Maternity and Gynecology, Ege Training and Research Hospital, IzmirDepartment of Pediatric Cardiology, Şifa University Faculty of Medicine, IzmirWe aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy. The fetus had multiple systemic anomalies including fetal heart. Fetal echocardiography revealed a horizontal liver, left-sided stomach and vena cava interruption with azygos continuation. There was also an apical trabecular ventricular septal defect, aorta and pulmonary artery arising from the left ventricle, pulmonary artery hypoplasia, pulmonary valve stenosis and left atrial isomerism. The heart rate was 46/min, consistent with third-degree atrioventricular block. Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography. The pregnancy was terminated in the 23rd gestational week based on the consensus of perinatology council. The autopsy examination confirmed the diagnosis of MKS, left atrial isomerism and heterotaxy syndrome. Although some cardiac defects have been reported previously in MKS fetuses, here we expand the cardiac spectrum of anomalies associated with MKS to include left atrial isomerism and heterotaxy syndrome.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tkd&un=TKDA-71173abnormalitiesmultiple/geneticsatrial isomerismleft; encephalocele/genetics/pathology; liver/pathology; meckel-gruber syndrome. |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Seçil Kurtulmuş Savaş Demirpençe Deniz Can Öztekin Altuğ Koç Vedide Tavlı |
spellingShingle |
Seçil Kurtulmuş Savaş Demirpençe Deniz Can Öztekin Altuğ Koç Vedide Tavlı Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome Türk Kardiyoloji Derneği Arşivi abnormalities multiple/genetics atrial isomerism left; encephalocele/genetics/pathology; liver/pathology; meckel-gruber syndrome. |
author_facet |
Seçil Kurtulmuş Savaş Demirpençe Deniz Can Öztekin Altuğ Koç Vedide Tavlı |
author_sort |
Seçil Kurtulmuş |
title |
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome |
title_short |
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome |
title_full |
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome |
title_fullStr |
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome |
title_full_unstemmed |
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome |
title_sort |
antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with meckel-gruber syndrome |
publisher |
KARE Publishing |
series |
Türk Kardiyoloji Derneği Arşivi |
issn |
1016-5169 |
publishDate |
2014-02-01 |
description |
We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy. The fetus had multiple systemic anomalies including fetal heart. Fetal echocardiography revealed a horizontal liver, left-sided stomach and vena cava interruption with azygos continuation. There was also an apical trabecular ventricular septal defect, aorta and pulmonary artery arising from the left ventricle, pulmonary artery hypoplasia, pulmonary valve stenosis and left atrial isomerism. The heart rate was 46/min, consistent with third-degree atrioventricular block. Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography. The pregnancy was terminated in the 23rd gestational week based on the consensus of perinatology council. The autopsy examination confirmed the diagnosis of MKS, left atrial isomerism and heterotaxy syndrome. Although some cardiac defects have been reported previously in MKS fetuses, here we expand the cardiac spectrum of anomalies associated with MKS to include left atrial isomerism and heterotaxy syndrome. |
topic |
abnormalities multiple/genetics atrial isomerism left; encephalocele/genetics/pathology; liver/pathology; meckel-gruber syndrome. |
url |
https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tkd&un=TKDA-71173 |
work_keys_str_mv |
AT secilkurtulmus antenataldiagnosisofleftatrialisomerismandheterotaxysyndromeinfetuswithmeckelgrubersyndrome AT savasdemirpence antenataldiagnosisofleftatrialisomerismandheterotaxysyndromeinfetuswithmeckelgrubersyndrome AT denizcanoztekin antenataldiagnosisofleftatrialisomerismandheterotaxysyndromeinfetuswithmeckelgrubersyndrome AT altugkoc antenataldiagnosisofleftatrialisomerismandheterotaxysyndromeinfetuswithmeckelgrubersyndrome AT vedidetavlı antenataldiagnosisofleftatrialisomerismandheterotaxysyndromeinfetuswithmeckelgrubersyndrome |
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