P2.019: Clinical Characteristics and Outcomes of Chronic Respiratory Failure in Ellis-Van Creveld Syndrome Managed With Long-Term Tracheostomy

Background: Ellis-Van Creveld Syndrome (EVC) is an autosomal recessive skeletal dysplasia characterized by chondrodystrophy, congenital heart disease, and restrictive lung disease of varying severity. While sporadic cases are reported, EVC is most common in the Lancaster County, PA, Amish Community. The management of EVC is individualized, but with advances in cardiopulmonary care and excellent neurological prognosis, families have become more accepting of cardiac intervention and respiratory support, including tracheostomy and long-term mechanical ventilation. The purpose of this study is to review the airway and pulmonary features seen in infants with EVC who have required tracheostomy and long-term mechanical ventilation for chronic respiratory failure.

Methods: This cohort is part of an IRB-approved (1894102-6) retrospective study evaluating features and long-term outcomes of patients with EVC from January 2007-present at Nemours Children’s Hospital Delaware. This study specifically evaluates upper and lower airway findings and clinical features, lung parenchymal changes, and most current respiratory outcomes.

Results: Thirteen infants with EVC from 12 families have undergone tracheostomy. Eleven families are Amish, one is of Amish descent, and one is non-Amish. Twelve patients survived to hospital discharge, while one died from sepsis. Three additional patients died after discharge due to pulmonary hypertension, progressive pulmonary venous obstruction, and RSV pneumonia. Of the four non-surviving patients, two were male, with a mean age at death of 1.2 years (range 0.3-3.0 years). Ten patients had complex heart defects, mainly complete common AV canal; nine have been repaired, and one is awaiting surgery. Four patients have pulmonary hypertension. The nine surviving patients have a mean age of 4.75 years (range 0.5-16.75 years), all are male, and three have been decannulated. Two are fully weaned from mechanical ventilation, one requires nighttime support, and the youngest three still need full-time mechanical ventilation. All surviving patients underwent flexible bronchoscopy, and no cartilaginous tracheomalacia was observed. Three patients (25%) had exaggerated dynamic airway collapse (EDAC) of the posterior tracheal wall, which resolved over time. One has circumferential suprastomal collapse, preventing decannulation. Five patients (42%) have a tracheal bronchus to the right upper lobe. No patient has significant lung disease, prolonged oxygen needs, symptoms of persistent asthma, or major developmental disabilities.

Conclusion: The long-term pulmonary prognosis of EVC in the setting of complex cardiac disease and severe lung and chest wall restriction, is excellent. Complex in- and outpatient cardiopulmonary care is acceptable and feasible among families in the Amish Community with favorable outcomes over time. Continued assessment of EVC patients is advantageous for better understanding the long-term changes in pulmonary and cardiac pathology.