Study on Clinical Prognosis, Risk Factors and Genetic Basis of Congenital Heart Disease

Congenital heart defect (CHD) is one of birth defects in the structure of the heart and/or great vessels. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to flow through the heart in an abnormal pattern. Heart defects are the leading cause of birth defect-related infant deaths. So far people recognize that the causes of CHD are the conjunct effect of environment and genetic factors, both of which remain unclear. The current stud aims at investigating all the possible perinatal parental environmental risk factors and underlying genetic factors to CHD, including DNA variation and methylations. A hospital-based 1:1 matched case control study is conducted. Subjects were recruited through neonatal screening program, which includes a clinical symptom screening followed by a cardiac ultrasound diagnosis for those with at least one clinical indicator. The blood sample of participant will be collected and the parents of subjects will be interviewed to completed a questionnaire including general information and possible risk factors to CHD.

case group

Inclusion criteria

• Han ethnic
• 0~3 years old
• screened by 7 indicator, diagnosed by ultrasound

Exclusion criteria

• with other brith defects
• with Patent Ductus Arteriosus (PDA) and Patent Foramen Ovale (PFO)

Control group

Inclusion criteria

• Han ethnic
• 0~3 years old
• without any of 7 screen indicator , without CHD heart palpitations and other complaints about heart disease, born in the same hospital with cases

Exclusion criteria

With other birth defects