View Abstract

A5628 - Unilateral Pulmonary Artery Atresia in a Heterozygous Carrier for Alport Syndrome
Author Block: D. Pratt1, R. Shell2, S. Bose-Brill3; 1Internal Medicine/ Pediatrics Residency Program, The Ohio State University Wexner Medical Center and Nationwide Children’s Hospital, Columbus, OH, United States, 2Nationwide Children Hospital, Columbus, OH, United States, 3Department of Internal Medicine, The Ohio State University College of Medicine, Columbus, OH, United States.
Introduction: This is a case of an adolescent female who is a known heterozygous carrier for Alport Syndrome who presented to her primary care physician’s (PCP) office for upper respiratory symptoms, and ultimately found to have unilateral pulmonary artery atresia (UPAA). This is the first reported case of an association between heterozygous carriers for Alport Syndrome and UPAA.

Case Description: A 13-year-old female presented to her PCP for acute onset of upper respiratory symptoms. She is followed by nephrology for biopsy-proven heterozygous carrier for Alport Syndrome, diagnosed at 5 years of age. Her diagnosis was made by family history and renal biopsy showing thin glomerular basement membranes, with a mosaic pattern of staining for the alpha-5 chain of Type IV collagen. She was otherwise healthy with a normal birth history and no prior hospitalizations. She presented to her PCP with acute-onset non-productive cough, sore throat, and hoarseness without fever, dyspnea, or hemoptysis. Examination revealed diminished right-sided breath sounds. Chest radiography showed hyperinflation of the left lung with mediastinal shift to the right. She was referred to the emergency department for evaluation.
In the emergency department, she appeared comfortable with normal vital signs. Asymmetric breath sounds were appreciated, but an otherwise normal physical examination. She underwent chest tomography, which demonstrated hyperinflation of the left lung with prominent interstitial markings on the right and patchy airspace opacities in the right lung base. She underwent flexible bronchoscopy demonstrating normal airway anatomy, no foreign body, and thick mucous in the right bronchial tree. Further review with radiology revealed that the right pulmonary vasculature appeared smaller than expected, and magnetic resonance angiography of the chest showed absence of the right pulmonary artery with collateral flow from descending thoracic aorta collaterals. An echocardiogram re-demonstrated a severely hypoplastic right pulmonary artery with no flow detected by Doppler. Her tricuspid regurgitation jet was at the upper limits of normal, but no evidence of pulmonary hypertension including normal right ventricular size and function. Since discharge, she has no limitation in her activity. She follows cardiology on an annual basis with an echocardiogram, which is stable for two years since her diagnosis of UPAA.

Discussion: This is the first reported case of an association between heterozygous carriers for Alport Syndrome and UPAA, suggesting a possible pathophysiologic association. This case also highlights the importance of a broad differential diagnosis in the care of patients with known genetic mutations.