Whole-exome sequencing of pathogenic genes in a family with congenital heart disease: A case report.

ABSTRACT:

Rationale

Congenital heart disease (CHD) is the most common birth defect and an important cause of noninfectious deaths in infants and children. It has high prevalence globally, placing an enormous burden on society and families. Studies of individuals with hereditary or sporadic CHD have provided strong evidence for its genetic basis. The aim of this study was to identify causative gene variants in a Chinese family with congenital heart disease.

Patient concerns and diagnoses

Three generations of a CHD family were recruited. Proband III.9 was diagnosed with congenital heart disease at age 11 months, and the echocardiogram showed arterial ductus arteriosus, with a left-to-right shunt at the level of the arteries. Precedent III.10 was a twin of Proband III.9 who was diagnosed

SUBMITTER: Chang L 

PROVIDER: S-EPMC10843419 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature