Hospitalists Should Have Increased Suspicion for Primary Ciliary Dyskinesia in Patients With Congenital Heart Disease

[摘要] Case: An infant boy with a prenatal diagnosis of congenitally corrected transposition of the great arteries (CC TGA, also known as L-transposition) was born at an outside hospital. Delivery was at term and via cesarean delivery for nonreassuring fetal heart rate. He was the first infant of a 22-year-old mother with no family history of heart disease, and the delivery was otherwise uncomplicated, with Apgar scores of 9 and 9 at 1 and 5 minutes, respectively. He was admitted to a NICU for observation, where he was noted to desaturate to 80% oxygen saturation when agitated. The care team chose to electively intubate, start him on prostaglandin E, and transfer to a tertiary care children’s hospital for further evaluation.On arrival, the patient had a white blood cell count of 18 × 103/μL with 76% neutrophils and 14% lymphocytes, a hematocrit of 55%, normal chemistry values, and a capillary blood gas analysis showing a pH of 7.4 and Pco2 of 41. He was stable on the ventilator with saturations in the high 90s on 30% fractional inspired oxygen content. Chest radiography showed clear lungs and mild cardiomegaly. At this point, it was presumed there must be additional occult cardiac lesions in addition to the CC TGA leading to the infant’s hypoxia.Question: What other cardiac conditions are associated with CC TGA, and what is the natural course of this anomaly? Discussion: In CC TGA, the heart twists abnormally during embryogenesis, and the right ventricle supplies blood to the body instead of the left. It represents only 0.05% of all congenital heart diseases and is usually associated with other morphologic cardiac defects. The most commonly associated malformations are an interventricular communication (60%), obstruction of the pulmonary outflow tract (40%), and abnormalities of the morphologically tricuspid valve (90%). …

[学科分类] 儿科学

[关键词] Campylobacter;proljev;dob