8-Month-Old Baby from Cote d'Ivoire Successfully Undergoes Complex Treatment for Congenital Heart Disease and Hirschsprung Disease

A 10-month-old baby boy, Noah, from Côte d'Ivoire (West Africa), was brought to Sarvodaya Hospital, Sector 8, Faridabad with a known diagnosis of Down syndrome and congenital heart disease. He had been experiencing recurrent lower respiratory tract infections (LRTIs), poor weight gain, and feeding difficulties, which were significantly affecting his health and development.

He also had significant abdominal distension, chronic constipation, and difficulty passing stools. A detailed evaluation revealed that Noah was also suffering from Hirschsprung Disease.

About Hirschsprung Disease: It is a disorder seen in approximately 1 in every 4,000 live births, in which a baby is born without the nerve cells required to move stool through part of the large intestine (colon). This causes intestinal blockage, severe constipation, and abdominal swelling.

The multidisciplinary paediatric team determined that performing open-heart surgery before treating the intestinal obstruction would carry a very high risk.

The bowel obstruction had resulted in poor nutritional status, severe abdominal distension, an increased risk of bowel infection, sepsis, and reduced ability to recover from major cardiac surgery.

Therefore, the team decided to first treat the Hirschsprung Disease and optimise Noah's overall health before proceeding with heart surgery.

Congenital Heart Disease Evaluation

A detailed cardiac evaluation by Dr Jay Relan, Senior Consultant – Paediatric Cardiology & Congenital Heart Disease, revealed multiple complex congenital heart defects, including:

• Large Atrial Septal Defect (ASD): A large hole between the two upper chambers of the heart, allowing oxygen-rich and oxygen-poor blood to mix.
• Large Perimembranous Ventricular Septal Defect (VSD) with Inlet Extension: A large hole between the two lower chambers of the heart, located near the heart valves and extending towards the area where blood enters the ventricles. This causes excessive blood flow to the lungs, making the heart work harder.
• Small Patent Ductus Arteriosus (PDA): A blood vessel that normally closes after birth but remained open, causing abnormal blood flow between the heart and lungs.
• Severe Pulmonary Arterial Hypertension (PAH): Very high blood pressure in the arteries supplying the lungs due to excessive blood flow.
• Increased Pulmonary Blood Flow (Qp): More blood than normal was being pumped to the lungs, increasing the workload on both the heart and lungs.

These defects were causing excessive blood flow to the lungs, leading to recurrent respiratory infections, poor growth, and increasing strain on the heart.

The child required early open-heart surgery, but another critical challenge had to be addressed first.

Investigation Revealed Hirschsprung Disease

Because Noah had severe abdominal distension and chronic constipation, Dr Shweta K. Sharma, Senior Consultant – Paediatric Surgery, initiated further investigations, including:

• Clinical Examination
• Abdominal X-ray
• Contrast Enema
• Digital Rectal Examination

The investigations revealed:

• Narrowing of the rectum (the last part of the large intestine that stores stool before it is passed out of the body).
• Markedly dilated large intestine.
• Positive "Blast Sign" during rectal examination.

These findings strongly confirmed Hirschsprung Disease, following which a Rectal Biopsy along with Immunohistochemistry (IHC) was performed.

The biopsy confirmed the diagnosis by demonstrating the absence of ganglion cells (nerve cells responsible for normal bowel movement).

First Surgery: Treatment for Hirschsprung Disease

Dr Shweta K. Sharma and her team successfully performed a diverting colostomy, creating a temporary opening in the intestine to divert stool and relieve the bowel obstruction.

A colostomy allows stool to pass safely while the affected intestine recovers and prepares the child for definitive treatment at a later stage.

Following surgery, Noah was closely monitored in the NICU. His bowel function improved steadily, abdominal swelling reduced significantly, nutritional intake improved, and he gradually gained strength, making him fit for the next stage of treatment.

Life-Saving Open-Heart Surgery

After Noah's recovery, Dr Anupam Das, Senior Consultant & Head – Cardiothoracic & Vascular Surgery, along with the paediatric cardiac surgery team, successfully performed a complex open-heart procedure that included:

• Trans-right atrial (Trans-RA) closure of the Ventricular Septal Defect (VSD).
• Patch closure of the Atrial Septal Defect (ASD).
• Ligation (closure) of the Patent Ductus Arteriosus (PDA).

The surgery corrected the abnormal blood flow within the heart, significantly reducing excess blood flow to the lungs and protecting Noah from progressive heart failure and irreversible lung damage.

Recovery and Outcome

Following surgery, Noah received comprehensive postoperative care in the Paediatric Cardiac Intensive Care Unit.

His recovery was uneventful, with stable heart function, improved breathing, better oxygen levels, gradual nutritional improvement, and recovery from both surgeries without major complications.

With both his intestinal obstruction and congenital heart defects successfully treated, Noah is now back home and on the path to complete recovery under regular multidisciplinary follow-up.