A Genotyped Case of Townes–Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey

Townes–Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C > T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.

Absent Pulmonary Valve with L-Transposition of Great Arteries: A Case report

Absent pulmonary valve syndrome and L-transposition of the great arteries are rare congenital anomalies. To our knowledge, patients with both have not been previously reported. We present a case of surgical success in the patient with absent pulmonary valve, L-transposition of the great arteries, dextrocardia, double outlet left ventricle, hypoplastic anatomical right ventricle, valvular aortic stenosis and tracheomalacia. We performed anatomical left ventricle to pulmonary artery shunt using an 8-mm expanded polytetrafluoroethylene bicuspid-valved conduit, pulmonary artery plication, and tracheostomy. The patient was discharged in a stable condition while waiting for the Glenn procedure until getting her parent’s permission.

Fontan operation for tricuspid atresia with absent pulmonary valve: a case series

Combined tricuspid atresia and absent pulmonary valve with dysplasia of the right ventricular myocardium is a very rare congenital heart anomaly with a poor prognosis. We present three cases of this rare disease that reached the Fontan operation without prior surgical intervention of the right ventricle or pulmonary artery; no right ventriclar dilation was detected. All patients had uneventful post-operative courses.