Article
Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.
Pediatric cardiology - 1 Jan 2020
Rojnueangnit Kitiwan, Sirichongkolthong Boonchu, Wongwandee Ratthapon, Khetkham Thanitchet, Noojarern Saisuda, Khongkraparn Arthaporn, Wattanasirichaigoon Duangrurdee
Abstract excerpt
Pediatric primary cardiomyopathy is rare but serious, having high mortality; hypertrophic and dilated types are the most common. Its etiology has been mainly considered idiopathic; however, next generation sequencing techniques have revealed nearly half of idiopathic pediatric cases arose from specific genetic mutations. Therefore, our study aimed to identify the genetic causes of primary idiopathic...
Topics
- Adolescent
- Cardiomyopathies
- Child
- Child, Preschool
- Echocardiography
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation