Clinical Characteristics of Patients With Fontan Circulation and Primary Ciliary Dyskinesia: A Case Series From the SV-ONE Registry.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder associated with chronic respiratory disease. In single-ventricle palliation, pulmonary blood flow is driven in part by inspiratory effort and is critically dependent on low pulmonary vascular resistance. The coexistence of PCD and Fontan physiology is uncommon, and outcomes remain poorly defined. METHODS: We performed a retrospective case series of patients with Fontan physiology and reported PCD within the multi-institutional Single-Ventricle Outcomes Network registry. RESULTS: Among 1,535 patients with Fontan, only 5 had reported PCD. Median age at Fontan completion was 3 years, with a median follow-up of 7 years. Following Fontan, 2 patients developed chylous pleural effusions. No patient developed plastic bronchitis or protein-losing enteropathy. CONCLUSIONS: In this case series, Fontan completion was only achieved in a small cohort of patients with reported PCD. These findings emphasize the need for multidisciplinary collaboration to appropriately describe, address, and manage multiorgan comorbidities.