(A, B) Volume-rendered CT images show discontinuity between the ascending aorta (AA) and descending aorta (DA) distal to the left subclavian artery (LSA) with a large patent ductus arteriosus (arrow) supplying the descending aorta. The patient was discharged on home oxygen with recommendation for close follow-up.ĬT angiogram in a 31-year-old woman with type A interrupted aortic arch. Surgical repair was not considered at the time because of the unstable pulmonary hypertension during the perinatal period. #Interrupted aortic arch movie#Postoperative volume-rendered CT angiogram demonstrated a type A interrupted aortic arch (IAA), with discontinuity between the ascending and descending aorta distal to the left subclavian artery ( Figure, A, B Movie 1 ), accompanied by PDA ( Figure, A) and large VSD ( Movie 2 ). A cesarean section was suggested by multidisciplinary consultation, and a baby girl was delivered. Echocardiogram revealed a ventricular septal defect (VSD) and patent ductus arteriosus (PDA), accompanied by severe pulmonary hypertension. Hence, the neonate was diagnosed with Apert syndrome based on the clinical, radiological, and genetic evaluation.A 31-year-old woman at 31 weeks of gestation presented to the emergency department with shortness of breath that had lasted for 11 days. Based on detailed physical examination in the NICU, acrocephaly, prominent forehead, hypertelorism, proptosis, lateral gaze of the left eye, broad nasal root, short hairline, pectus excavatum, cutaneous syndactyly of both hands, enlarged thumbs, and total syndactyly of the toes of both feet were detected ( Appendix). The patient was immediately admitted to the neonatal intensive care unit (NICU) to keep the ductus arteriosus patent with PGE1 infusion. 3D-CTA examination of the thoracic aorta revealed an interruption between the left carotid artery and the left subclavian arteries, the pulmonary artery continuing as a descending aorta via the large ductus and the left subclavian artery originating from the pulmonary artery ( Appendix). We also confirmed the diagnosis of IAA type B by three-dimensional computed tomography (3D-CTA). The postnatal transthoracic echocardiogram (TTE) examination confirmed the prenatal sonographic findings of IAA type B. This missense mutation has been previously reported as “pathogenic” in Apert syndrome,Ī female newborn, weighing 2860 g and measuring 48 cm, with an Apgar score of 6/9 was delivered via cesarean section at 34 + 2 weeks since the newborn was lying in transverse lie position and premature contractions were observed. Heterozygosity for a C-to-G transition at position c.758 was identified, leading to Pro253Arg (P253R) mutation. The fibroblast growth factor receptor 2 gene was analyzed by sequence analysis and next-generation sequencing method, respectively. Genomic DNA was extracted from the umbilical cord blood. The patient was diagnosed with IAA type B. Because the median age at death in untreated cases is 10 days, this condition usually occurs as a complicated neonatal surgical. More than 97 of the cases also have associated cardiac anomalies complicating their treatment. Moreover, the ascending aorta was the innominate artery, and it had continuity with the left carotid artery ( Appendix). Interrupted aortic arch (IAA) is an uncommon congenital anomaly representing approximately 1 of congenital heart disease. When the aortic arch view was obtained, there was no continuity between the ascending and descending aorta. The patient's fetal echocardiography revealed that the aorta was mildly hypoplastic in three-vessel and tracheal views compared to the pulmonary artery ( Appendix). A fetal transabdominal ultrasound at 32 gestational weeks revealed acrocephaly, frontal bossing, depressed nasal bridge, cutaneous syndactyly of both hands and total syndactyly of the toes of both feet, and severe polyhydramnios with the normal four-chamber view of the heart ( Appendix). A 40-year-old primigravida was referred to our clinic due to craniosynostosis and hand defects.
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