Ronald W. Day, Benjamin F. Call
University of Utah and Primary Children’s Hospital. Portneuf Cardiology.
United States
Rare Disease and Orphan Drugs Journal
Rare Dis Orphan Drugs J 2023;
DOI: 10.20517/rdodj.2023.12
Abstract
A range of pulmonary arterial pressures was observed in three related patients with Cantú syndrome. The incident patient developed a moderately high pulmonary vascular resistance. Several factors influenced the severity of his pulmonary vascular disease and the events, which ultimately resulted in his death. However, he had an acute improvement in blood pressure and respiratory support after a single dose of glyburide when he was critically ill. The father and sister of the incident patient have evidence of mildly increased pulmonary arterial pressure with normal pulmonary vascular resistance. They are being treated with glyburide to potentially decrease the high cardiac output associated with a gain in KATP channel function. Additional experience with glyburide or other KATP channel inhibitors is needed to determine the most appropriate agent, dose, time, and duration of treatment for patients with Cantú syndrome.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Precision Care for Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes