Awareness, early diagnosis key as 'Genetic Heart Defects' increase in newborns: NICVD Expert

ISLAMABAD, (APP - UrduPoint / Pakistan Point News - 16th Jun, 2026) Assistant Professor of Pediatric Cardiology at the National Institute of Cardiovascular Diseases (NICVD), Dr. Aliya Kamal Ahsan Tuesday stressed the need for early diagnosis, timely treatment and greater awareness of 'Genetic heart diseases' and congenital heart defects (CHD), warning that rising cases and lack of awareness are contributing to increased child mortality.

While speaking to a private news channel, Dr. Alia highlighted that several maternal and environmental factors are increasingly being linked with congenital or genetic heart diseases in children.

Conditions such as maternal diabetes, thyroid disorders, poor nutrition during pregnancy, and exposure to air pollution can interfere with normal fetal development, she added.

These factors may not directly “cause” heart defects in every case, but they significantly increase the risk when combined with genetic susceptibility and inadequate prenatal care.

She further explained that awareness of stress management and maternal health is equally important. Chronic stress during pregnancy, along with a lack of proper medical check-ups, can negatively affect both the mother and the developing baby.

Regular antenatal screening, balanced nutrition, and timely management of existing conditions such as diabetes and thyroid imbalances can greatly reduce complications and improve outcomes for newborns.

According to her observations, a concerning number of children suffering from congenital heart conditions face serious risks due to delayed diagnosis and negligence. In some cases, nearly 20–25% of affected children may experience severe complications or death when treatment is not started early.

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She stressed that early detection through routine screening and prompt referral to pediatric cardiology services can significantly improve survival rates and quality of life.

She also mentioned that the reported prevalence of such heart conditions appears to be rising over time

from roughly 1 in 100 children in the past to around 1 in 50 in more recent observations.

This increase may be linked not only to environmental and nutritional factors but also to improved diagnostic tools that identify cases more accurately than before.

She emphasized that strengthening public awareness, prenatal care systems and early intervention programs is essential to address this growing health concern.

She also mentioned that surgical procedures in children with congenital or genetic heart diseases are often more complex compared to adults.

Pediatric heart patients have smaller, more delicate cardiac structures, and the defects they present with are frequently more complex and varied. This makes both diagnosis and surgical correction more challenging for cardiac specialists.

In addition, children may have associated complications such as underdeveloped organs, poor weight gain, or multiple congenital abnormalities, which further increase surgical risk.

Post-operative care is also more demanding, as children require specialized monitoring, careful medication dosing, and long-term follow-up to ensure proper heart growth and development after surgery, she added.