N. Garancini, M. Ghezzi, A. Farolfi, V. Guaia, G. Canali, V. Fabiano, G.V. Zuccotti, E. D’Auria
Buzzi Children’s Hospital and University of Milan.
Italy
Respiratory Medicine Case Reports
Respir Med Case Rep 2024; 53:
DOI: 10.1016/j.rmcr.2024.102155
Abstract
Mutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Collateral Arteries (SPCAs) has been reported. We report the case of M., affected by a KCNT1-related drug-resistant epileptic encephalopathy, who presented fatal complications with massive hemoptysis due to SPCAs. We aim to increase the awareness regarding this infrequent but potentially severe clinical condition.
Category
Abnormal Systemic to Pulmonary Arterial Collaterals or Connections
Genetic Factors Associated with Pulmonary Vascular Disease
Symptoms and Findings Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes