Hypertrophic cardiomyopathy associated with malformation syndrome in children
- Author:
Ben-zhen WANG
1
;
Zi-pu LI
1
Author Information
- Publication Type:Journal Article
- Keywords: genetic testing; hypertrophic cardiomyopathy; abnormalities; multiple; child
- From: Chinese Journal of Practical Pediatrics 2019;34(05):379-384
- CountryChina
- Language:Chinese
- Abstract: Hypertrophic cardiomyopathy(HCM) is defined by the presence of increased left ventricular(LV)wall thickness that is not solely explained by abnormal loading conditions. It includes familial HCM caused by mutations in the genes encoding the cardiac muscle branch contraction-associated protein,as well as hereditary HCM caused by mutations in genes encoding non-muscle-contracting system-associated proteins. Malformation syndromes are symptom complex characterized by multi-system and multi-organ abnormality. HCM can be the only or major manifestation of its cardiovascular system lesions. The article will briefly introduce HCM associated with malformation syndrome in children.
