Periconceptional parental conditions and perimembranous ventricular septal defects in the offspring.

Background: The perimembranous ventricular septal (pVSD) defect is the most common congenital heart disease phenotype. Several parental factors are associated with pVSD risk in the offspring. To contribute to the future prevention of pVSDs, we investigated associations with nongenetic parental conditions.

Methods: In a case-control study with standardized data collection at 17 months after birth, 115 parents of a child with pVSD and 484 parents of a healthy child completed questionnaires about periconceptional nongenetic conditions. Univariable and multivariable logistic regression analyses were used to estimate odds ratios (OR) with 95% confidence intervals (95% CI).

Results: Complete data were available for 588 families (98%). Maternal risk conditions associated with pVSD offspring were a positive family history of congenital heart disease (OR, 2.61; 95%CI, 0.98-6.91), medication use (OR, 1.80; 95%CI, 1.13-2.85) and advanced age (OR, 1.07; 95%CI, 1.02-1.12). Exposure to phthalates (OR, 1.93; 95%CI, 1.05-3.54) was the only paternal risk condition associated with pVSD offspring.

Conclusion: Four periconceptional parental conditions contributed to pVSD risk in the offspring. Couples planning pregnancy should be counseled on these risk conditions which are partially modifiable to contribute to the future prevention of pVSDs.