[Two cases with dilated cardiomyopathy since infancy]

Y Y Li; Y J Feng; F J Wang; X L Yao; W N Hou; D X Li

doi:10.3760/cma.j.issn.0578-1310.2019.09.013

[Two cases with dilated cardiomyopathy since infancy]

Zhonghua Er Ke Za Zhi. 2019 Sep 2;57(9):712-714. doi: 10.3760/cma.j.issn.0578-1310.2019.09.013.

[Article in Chinese]

Authors

Y Y Li¹, Y J Feng¹, F J Wang¹, X L Yao¹, W N Hou¹, D X Li²

Affiliations

¹ Department of Vasculocardiology, Children's Hospital Affiliated to Zhengzhou University/Children's Hospital of Henan Province, Zhengzhou 450018, China.
² Henan Provincial Key Laboratory of Children's Genetics and Metabolic Disease, Children's Hospital Affiliated to Zhengzhou University/Children's Hospital of Henan Province, Zhengzhou 450018, China.

PMID: 31530359
DOI: 10.3760/cma.j.issn.0578-1310.2019.09.013

Abstract

2例婴儿期起病的扩张型心肌病患儿均为女孩，均于1岁前起病，急性期主要表现为吐沫、拒乳、精神差、呻吟、呼吸困难，以进食、哭闹等活动时明显，伴少尿、腹胀。例1既往活动后多汗，且有家族史。2例患儿在TNNT2基因上发现2种已报道杂合变异，其中例1父亲及胞妹携带相同致病变异，2例患儿及例1部分家系成员基因确诊为扩张型心肌病。TNNT2基因相关婴幼儿期起病的扩张型心肌病临床极为罕见。.

Publication types

Case Reports

MeSH terms

Cardiomyopathy, Dilated / diagnosis*
Humans
Infant