Pakistan reports surge in congenital heart defects among newborns

Medical experts have sounded the alarm over ‘rapid increase in congenital heart diseases’ among children in Pakistan, with Tetralogy of Fallot, emerging as the most frequently diagnosed conditions. If not identified and surgically treated in time, TOF can pose a serious threat to the child’s life.

Speaking to The Express Tribune, NICVD Assistant Professor and Paediatric Cardiologist Dr Aaliya Kamal Ahsan - the first Pakistani to receive an official fellowship in paediatric cardiac imaging from IJN Malaysia - said her primary area of expertise is congenital heart disease, particularly TOF.

According to Dr Aaliya, around 40,000 to 60,000 children are born with heart diseases in Pakistan every year, out of which 10-12% (4,000-7,000) are TOF cases. At NICVD alone, surgeons perform two open-heart TOF surgeries and two shunt (closed-heart) procedures daily.

“TOF is not treatable with medicines. It is entirely a surgical condition,” she said. The disease comprises four defects: a hole in the heart, narrowing or misalignment of the pulmonary valve, an overriding aorta, and right ventricular hypertrophy. “Surgery is the only definitive treatment,” she added.

Dr Aaliya warned, if surgery is not performed in time, the mortality rate, among children within the age of one year, can reach up to 40%. In contrast, if corrective surgery is done, the risk of death over the next 40 years drops to around 1%, significantly improving long-term survival.

NICVD surgeons consider TOF correction a routine yet highly specialised procedure. However, the disease presents a wide spectrum of symptoms. “Some infants show signs of blueness (cyanosis) during crying, bathing, or in the early morning. Others are blue at birth, which indicates a severe form known as TOF with pulmonary atresia. Some appear normal initially-known as ‘pink TOF’-but develop breathing difficulties as they grow,” Dr Aaliya explained.

Many TOF patients develop leakage in the pulmonary valve over time. However, Dr Aaliya said leakage rates among NICVD-operated patients in Pakistan are lower than international averages, as confirmed through institutional research. Leakage can be mild, moderate, or severe; excessive leakage can lead to right ventricular failure, necessitating valve replacement.

Pakistan offers two replacement methods - via cannula or open-heart surgery - with facilities available at SIUT. If TOF is diagnosed immediately after birth, early surgery is recommended. Globally, however, the optimal age for surgery is six to nine months, because very young infants have narrower valves that may be damaged during patching. “Ultimately, the timing depends on the severity of disease in each child,” she said.

Dr Aaliya stressed that genetic factors significantly influence TOF. “Cousin marriages increase the likelihood of congenital heart diseases,” she said. If the mother has TOF, there is a 10% chance the child may also have it. The risk also increases if the father or siblings are affected. However, she added that new genetic mutations mean the disease can occur even without a family history.

Globally, one out of every 100 children is born with a congenital heart defect. In Asia, the rate is far higher - between 8% and 9.3%, and in some areas as high as 12%. Among all congenital heart conditions, TOF remains the most common.

Accurate diagnosis requires high-quality ECG, X-ray, and echocardiography. “With a skilled imaging specialist, more than 90% of TOF-related anomalies can be detected through echocardiogram alone,” Dr Aaliya said, adding that early diagnosis allows timely intervention and better surgical outcomes.