Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome
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Tarih
2014
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Bu yazıda, sol atriyum izomerizmi, heterotaksi sendromu ve tam kalp bloğu olan Meckel-Gruber sendrom’lu (MKS) bir fetüs sunuldu. Yirmi altı yaşındaki sağlıklı anne gebeliğinin 23. haftasında kliniğimize başvurdu. Fetüsün kalbi de içeren çok sayıda sistemik anomalisi vardı. Fötal ekokardiyografide horizontal karaciğer, sol yerleşimli mide ve azigos devamlılığı olan kesintili kaval veni vardı. Ayrıca apikal trabeküler ventriküler septal defekt, sol ventrikülden çıkan aorta ve pulmoner arter, pulmoner arter hipoplazisi, pulmoner kapak stenozu ve sol atriyum izomerizmi mevcuttu. Kalp hızı 46/dk idi ve üçüncü derece kalp bloğu ile uyumlu idi. Obstetrik ultrasonografisinde oksipital ensefalosel, iki taraflı polikistik böbrekler, yarık dudak, yarık damak ve polidaktiliyi içeren çok sayıda anomali saptandı. Perinatoloji konseyi kararı ile 23. gebelik haftasında gebelik sonlandırıldı. Otopsi incelemesi sol atriyum izomerizmi heterotaksi sendromu ve MKS tanısını doğruladı. Meckel-Gruber sendromlu fetüslerde daha önce birtakım kardiyak defektler bildirilmiş ise de, biz burada sol atriyum izomerizmi ve heterotaksi sendromunu da içeren MKS ile ilişkili kardiyak anomaliler spektrumunu genişletmiş olduk.
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 preg- nancy. the fetus had multiple systemic anomalies including fetal heart. Fetal echocardiography revealed a horizontal liv- er, 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 poly- cystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography. the pregnan- cy 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.
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 preg- nancy. the fetus had multiple systemic anomalies including fetal heart. Fetal echocardiography revealed a horizontal liv- er, 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 poly- cystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography. the pregnan- cy 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.
Açıklama
Anahtar Kelimeler
Kalp ve Kalp Damar Sistemi
Kaynak
Türk Kardiyoloji Derneği Arşivi
WoS Q Değeri
Scopus Q Değeri
Cilt
42
Sayı
2