Syed Anas Hyder, Jack Earl Simmons, J. Emerson Scheinuk, Rachel Sinkey, and Marc G. Cribbs. CHD incidence in offspring of mothers with non-inherited and non-syndromic forms of CHD: a single-centre retrospective cohort study. Cardiology in the Young. 2026;36:275-279. doi:10.1017/S1047951126111597.
Take-Home Points
- This retrospective cohort study evaluated 186 mothers with congenital heart disease (CHD), 195 pregnancies, and 198 infants managed through a multidisciplinary cardio-obstetrics program between 2015 and 2023.
- The incidence of CHD among offspring was 8.1% (16/198 infants), approximately eight times higher than the estimated 1% prevalence in the general population.
- The most common lesion in affected offspring was ventricular septal defect (VSD), accounting for 10 of 16 cases.
- Despite the elevated recurrence risk, nearly all identified defects were non-critical lesions, and no infant required early in-hospital cardiac surgery.
- Only two infants experienced in-hospital mortality, and one of these had severe extracardiac abnormalities suggesting an underlying genetic syndrome rather than isolated CHD.
- The findings provide contemporary U.S. data that can improve prenatal counseling for women with non-syndromic CHD considering pregnancy.
Commentary from Dr. Varun Aggarwal (Wilmington, DE, USA), editor-in-chief of Congenital Heart Disease Journal Watch:
One of the most common questions asked during reproductive counseling by women with congenital heart disease is remarkably straightforward:
“Will my child have congenital heart disease too?”
Although clinicians have long recognized that offspring of affected parents have a higher risk of CHD than the general population, contemporary U.S. data remain limited, particularly for mothers with non-syndromic and apparently non-inherited forms of congenital heart disease. The study by Hyder and colleagues provides important contemporary data addressing exactly this question.
The investigators examined nearly a decade of experience from a large multidisciplinary cardio-obstetrics program and identified 195 pregnancies among women with congenital heart disease who did not have known syndromic or inherited forms of CHD. This distinction is important because much of the counseling provided in congenital heart disease clinics concerns exactly this population: women with isolated defects who wonder whether their personal history will affect future children.
The primary finding is both reassuring and clinically meaningful.
Among 198 infants, the overall incidence of congenital heart disease was 8.1%. While this is substantially higher than the approximately 1% prevalence reported in the general population, it also means that more than 90% of offspring were born without detectable congenital heart disease.
From a counseling perspective, that nuance matters.
Patients often hear that congenital heart disease “runs in families” and may interpret this as implying a high likelihood that their children will be affected. This study provides a more balanced framework. The recurrence risk is clearly elevated, but the majority of pregnancies still result in unaffected offspring.
Equally important is the nature of the lesions identified.
The overwhelming majority were relatively mild defects, most commonly ventricular septal defects and atrial septal defects. No infant required cardiac surgery during the neonatal hospitalization. This observation suggests that although recurrence risk is increased, recurrence does not necessarily imply severe or critical congenital heart disease.
For fetal cardiologists and maternal-fetal medicine specialists, this distinction is highly relevant. Parents frequently equate recurrence risk with recurrence of severe disease. In reality, lesion severity may vary substantially between generations.
Another noteworthy aspect of the study is the diversity of maternal diagnoses represented.
The cohort included women with ventricular septal defects, bicuspid aortic valve, Tetralogy of Fallot, coarctation of the aorta, transposition of the great arteries, atrioventricular septal defects, and numerous other lesions. This broad representation reflects the contemporary ACHD population increasingly encountered in reproductive medicine and strengthens the clinical applicability of the findings.
The recurrence patterns are also intriguing.
Many infants did not inherit precisely the same lesion carried by their mothers. For example, mothers with complex lesions such as Tetralogy of Fallot or double-outlet right ventricle frequently had offspring with relatively simple septal defects. This supports existing theories that inherited susceptibility may often involve developmental pathways rather than direct transmission of identical anatomic lesions.
The study also highlights the continuing importance of fetal echocardiography.
Nearly all pregnancies underwent fetal echocardiographic evaluation. Even with modern imaging, however, some lesions were identified only after birth. This reinforces a reality familiar to fetal cardiologists: fetal echocardiography is highly effective but not perfect, particularly for smaller septal defects and certain obstructive lesions that may evolve after delivery.
For ACHD specialists, these findings emphasize the value of multidisciplinary reproductive counseling.
As survival improves, reproductive issues occupy an increasingly central role in congenital heart disease care. Conversations are no longer limited to questions of maternal cardiac safety but increasingly extend to fetal risk assessment, genetic counseling, prenatal screening strategies, and neonatal planning.
The study also raises important questions regarding genetics.
The investigators intentionally excluded known syndromic and inherited forms of CHD. Yet recurrence still occurred in over 8% of offspring. This observation underscores how much remains unknown regarding the genetics of congenital heart disease. Many lesions currently classified as non-syndromic likely reflect incompletely understood genetic pathways that traditional testing cannot yet identify.
As genetic technologies continue to advance, future studies may reveal that some apparently sporadic lesions have more substantial heritable contributions than currently appreciated. Until then, risk counseling must rely largely on observational cohort data such as those presented here.
The study’s most reassuring observation is that increased recurrence risk was not accompanied by a high burden of severe neonatal disease. Neonatal intensive care admission occurred in about 11% of infants, mostly related to prematurity rather than cardiac pathology, and no infant required early surgical intervention.
Ultimately, this paper provides the type of practical information families often seek but that clinicians have historically struggled to quantify. Women with congenital heart disease can be informed that their children face a higher-than-average risk of congenital heart disease, approximately 8% in this cohort, but that most offspring are unaffected and most detected lesions are non-critical.
Clinical Perspective
Among women with non-syndromic congenital heart disease, approximately 8% of offspring were diagnosed with congenital heart disease, representing a substantially elevated recurrence risk compared with the general population. However, most lesions were simple septal defects, none required neonatal cardiac surgery, and overall infant outcomes were favorable. These findings support routine fetal echocardiography and informed prenatal counseling while providing reassurance that severe recurrent disease is uncommon.
