Mumbai docs successfully treat baby diagnosed with rare congenital syndrome 

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Doctors in Mumbai have successfully treated a newborn diagnosed with Cantrell’s Pentalogy, an exceptionally rare congenital syndrome estimated to occur in one in 65,000 to 200,000 live births. 

What is Cantrell’s Pentalogy?

First described by Cantrell and colleagues in 1958, the condition is characterised by a spectrum of five developmental defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. 

The complete form of the syndrome is uncommon and often carries a guarded prognosis because of the presence of ectopia cordis (partial or complete displacement of the heart outside the chest) and associated intracardiac defects.

Diagnosis and treatment

The baby girl was diagnosed during pregnancy, allowing specialists from multiple disciplines to prepare well before delivery. Obstetricians, fetal medicine specialists, pediatric surgeons, cardiothoracic surgeons, neonatologists, pediatric cardiologists, radiologists, anesthesiologists and intensive care specialists jointly planned the baby’s delivery and subsequent surgery. Such coordinated prenatal planning has consistently been shown to improve outcomes in babies with complex congenital anomalies by enabling immediate stabilization and timely surgical intervention after birth.
 
She was delivered by planned Caesarean section on June 17 and was electively placed on ventilatory support immediately after birth to facilitate safe stabilisation and detailed evaluation.
 
Advanced imaging demonstrated a large defect involving the lower chest and upper abdominal wall, with the left ventricle of the heart, a large portion of the liver and bowel loops developing outside the body. She also had defects of the sternum, diaphragm and pericardium, together with a ventricular septal defect (VSD) and a large patent ductus arteriosus (PDA). This constellation of findings represented a complete form of Cantrell’s Pentalogy, one of the most technically demanding congenital conditions encountered in neonatal surgery.
 
Following detailed review of the imaging, the multidisciplinary team rehearsed the operative strategy before undertaking definitive reconstruction.

The surgery was performed by Dr. Pradnya Bendre, Dr. Gayatri Munghate and Dr. Abhishek Mathur (Pediatric Surgeons) together with Dr. Biswa Panda (Cardiovascular and Thoracic Surgeon) at Bai Jerbai Wadia Hospital for Children in Parel. Perinatal care was led by Dr. Suma from the neonatal intensive care team, while Dr. Saroj Chavan’s detailed radiological assessment was instrumental in surgical planning. The pregnancy and delivery were managed by Dr. Jassawala and Dr. Payal Lakani, ensuring a seamless transition from antenatal diagnosis to definitive neonatal treatment.
 
During surgery, the liver, bowel loops and exposed heart were meticulously separated from the surrounding sac. Native pericardial tissue was used to reconstruct the protective covering of the heart, supplemented with synthetic mesh where required, before the organs were carefully repositioned into the chest and abdominal cavity. The diaphragm and abdominal wall were then reconstructed. Throughout the procedure, the anesthesiology team, led by Dr. Sushil and Dr. Vinit Bedekar, managed the significant physiological challenges associated with closure of the defect, ensuring that the heart and lungs tolerated the increased pressure after reduction of the herniated organs. The baby remained stable throughout the procedure and tolerated the reconstruction remarkably well.
 
Following surgery, the baby recovered in the neonatal intensive care unit, where she was gradually weaned off ventilatory and circulatory support, progressed to full feeds and made a steady recovery. She was discharged home on the 20th postoperative day, feeding well, with normal bowel and bladder function and a healthy healing wound.

Although Cantrell’s Pentalogy has historically been associated with high neonatal mortality, advances in prenatal imaging, neonatal intensive care, pediatric cardiac support and reconstructive surgical techniques have significantly improved outcomes in carefully selected patients. This child’s successful recovery demonstrates the impact of early diagnosis, meticulous surgical planning and coordinated multidisciplinary care in managing one of the rarest congenital anomalies encountered in pediatric practice.
 
The treating team emphasised that this case represents far more than a successful operation. It demonstrates the importance of integrating fetal diagnosis, obstetric care, neonatal intensive care, pediatric surgery, cardiothoracic surgery, pediatric cardiology, anesthesia and radiology into a single coordinated treatment pathway. For the baby’s family, it marked the beginning of a new chapter defined not by the rarity of her condition, but by the hope made possible through collaborative care.