Familial co-occurrence of congenital heart defects follows distinct patterns.

ABSTRACT:

Aims

Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis.

Methods and results

We calculated rates of concordance and discordance for 41 specific types of malformations, observing a high variability in the rates of concordance and discordance. By calculating odds ratios for each of

SUBMITTER: Ellesoe SG 

PROVIDER: S-EPMC6018923 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature