1.
Cardiol Young
; 34(3): 701-703, 2024 Mar.
Article
in English
| MEDLINE
| ID: mdl-38229505
ABSTRACT
KCNT1 mutations are associated with childhood epilepsy, developmental delay, and vascular malformations. We report a child with a likely pathogenic KCNT1 mutation (c.1885A>C, p.Lys629Glu) with recurrent pulmonary haemorrhage due to aortopulmonary collaterals successfully managed with coil embolisation followed by right upper lobectomy.
Subject(s)
Blood Vessel Prosthesis , Vascular Malformations , Child , Humans , Mutation , Nerve Tissue Proteins/genetics , Potassium Channels, Sodium-Activated/genetics
2.
JACC Cardiovasc Interv
; 10(13): e119-e122, 2017 07 10.
Article
in English
| MEDLINE
| ID: mdl-28624383