Isolated unilateral absence of the pulmonary artery without any intracardiac anomaly is a rare congenital cardiovascular disorder. We performed a successful anatomical repair after systemic-to-pulmonary shunt. The patient was a 1-day-old boy who was transferred to our institution because of continuous murmur. Cardiac echography revealed anomalous origin of the right pulmonary artery from the ascending aorta (AORPA). This aorto-right pulmonary arterial blood flow, however, disappeared in the following 2 days. We altered the diagnosis to right unilateral absence of pulmonary artery (UAPA) from AORPA. A right systemic-to-pulmonary shunt using a 3 mm polytetrafluoroethylene (PTFE) graft was placed, aiming for growth of the right pulmonary artery at the age of 8 days. Forty days after the initial surgery, he underwent a definitive procedure. The right pulmonary artery was anatomically reconstructed with an 8-mm PTFE graft. He was discharged in excellent condition on postoperative day 41. Cardiac catheterization, 1 year later, showed the surgically created right pulmonary artery was patent. A pulmonary perfusion scintigraphy showed satisfactory blood distribution in the right lung.

Giant left atrium (LA) in association with mitral valve disease is a significant risk factor for mortality and morbidity. It may cause obstruction of the bronchus, pulmonary artery, inferior vena caval orifice, or left ventricle, and has also required prolonged hospital stay. We describe our experience of left atrial reduction by means of circular LA resection concomitant with mitral valve plasty in 2 children with severe mitral regurgitation (MR) and giant LA. Case 1 was a 1-year-old boy, who had severe MR and giant LA, presenting with left bronchial obstruction. He underwent mitral valve plasty and circular LA resection. His LA volume, which was calculated using enhanced chest CT examination, was decreased by 23% postoperatively, comparing that before the operation. The cardiothoracic ratio on chest X-ray changed from 60% to 49%, and his sequential symptoms from giant LA disappeared. His postoperative course was uneventful and he was discharged on postoperative day 21. Case 2 was a 12-year-old girl with severe MR and giant LA. Her LA together with the sternum and spine compressed the right atrium and caused right heart failure. She underwent mitral valve plasty and circular LA resection. Her LA volume was decreased by preoperative 22%. Cardiothoracic ratio on chest X-ray changed from 63% to 57%. Her sequential symptoms from giant LA disappeared. Her postoperative course was uneventful and she was discharged 28 days after the operation. The circular LA resection technique reduced LA volume effectively, and the patients became free of clinical symptoms. Even in children, this procedure should be indicated in selective cases who presented clinical symptoms caused by the expanded LA.

A 40-year-old female visited our hospital because of malaise. She had no history of early loss of primary teeth nor family history of skeletal dysplasia. Laboratory examination showed low serum alkaline phosphatase levels of 18 U/L. In addition, hypozincemia was also observed, but alkaline phosphatase level did not increase after zinc replacement. Mediators, including calcium and phosphorus metabolism, were within normal range. X-ray examination showed no evidence of osteomalacia, but mineral bone density was slightly decreased compared with the young adult mean. Urine phosphoethanolamine level was increased, and we then suspected hypophosphatasia. Genetic tests detected ALPL gene heterozygous missense mutation (c.529G>A p.Ala177Thr and c.670A>G p.Lys224Glu) and adult-onset hypophosphatasia was finally diagnosed. It is important to evaluate alkaline phosphatase levels in the screening of patients with non-specific symptoms.