A delicate translocation

May 8, 2019 0 By FM

The formation of a fully developed human baby from an embryo involves a series of complicated cellular and molecular events spread over 40 weeks. These occur in precise synchrony to ensure that all tissues and organs are correctly formed from a single fertilized egg. Nature has also built in a fail-safe mechanism where any deviation in the embryological development process leads to an abortion of the foetus. Occasionally, for reasons that are not completely clear, babies are born despite structural anomalies.\

One such baby boy was born to Mrs Meena and Mr Vinod (names changed). Expectedly, both parents were very excited when Amol (name changed) was born. However, just days after he was born, the parents noticed that Amol was appearing blue, and took to him a local medical practitioner, where an echo was performed. The echo revealed a congenital defect in the heart where the aorta was connected to the right ventricle and the pulmonary artery to the left ventricle, instead of the other way around. This condition is called ‘transposition of the great arteries’ which results in altered blood circulation, that subsequently leads to a significant reduction in oxygen content in the periphery. This was what had caused Amol to appear blue. It has been well reported that such a condition, if left untreated, can lead to severe cardiopulmonary complications and even death. Amol’s echo report had also indicated that he had had a ventricular and atrial septal defect, and corrective surgery would be the only treatment option.

Amol was then brought for a consultation with Dr Muthu Jothi, senior consultant and Paediatric Cardiothoracic Surgeon at Indraprastha Apollo Hospital, New Delhi. While the treatment option was quite clear, Amol weighed only 2.2 kgs and was not an ideal candidate for the corrective surgery. Since such surgeries are performed on babies that are at least 2.6 kgs and beyond, Dr Jothi and his medical team decided to allow Amol to gain some weight. During this time, the baby was placed under ventilator support in intensive care. However, even after a week, Amol did not gain much weight. Considering the precarious cardio-pulmonary status, doctors began considering the surgical option even though he was underweight.

Surgery on an underweight baby carries a much higher mortality risk compared with that on a normal weight baby. Dr Jothi had to gently help the parents understand the risks involved. But since it was a ‘do or die’ situation, Mrs Meena and Mr Vinod put their faith in the hands of Dr Jothi’s team. The medical team went ahead with the surgery and performed the arterial switch surgery on Amol. Thankfully, Amol’s coronary anatomy was not problematic, and the delicate translocation of thin arteries could be performed without any further complications.

Once the surgery was completed successfully, Amol was kept under ventilator support for a few days and continued on minimal medication, including antiplatelet therapy to prevent clot formation in the repaired vessels. The treatment is likely to be continued up to 3 months. While infections can occur post-surgery, the postoperative course is simple if the surgery has gone well and the child is likely to lead a normal life.

There is no known cause for such anomalies. The age of the mother, consanguineous marriages, infections during pregnancy or excessive smoking or drinking during pregnancy may be risk factors. Anything that may cause the development of the heart to be arrested may result in congenital diseases, including the transposition of the great arteries. In Amol’s case, there was no known cause. However, such cases have been increasing and Dr Jothi says that he performs 5-6 artery transposition surgeries a month.

Such congenital defects may be picked up during prenatal testing as well. If there are any doubts during the prenatal ultrasound testing, fetal echo is recommended. If positive, parents are counseled and corrective surgery, soon after birth, is typically recommended. Abortion is only recommended in case the foetus has additional congenital complications. While a post-birth echo can typically identify all relevant anatomical details, minute details may be missed in case the coronary anatomy is complicated. Dr Jothi, like all surgeons, does not like surprises in the OT and would like to be well informed of all the anatomical concerns prior to the surgery. He, therefore, advocates the use of a CT angiogram for a more detailed evaluation before surgery.

Corrective surgeries for congenital heart diseases are not easy procedures. The entire team, including surgical, medical, anesthaesia, nursing and the intensive care staff, have to work meticulously with an almost zero margin for error. Further, such surgeries can be expensive and even if the family is unable to afford the costs, there are alternative ways by which funds can be arranged. In Amol’s case, donations were accrued via MILAAP, which is a Bangalore-based crowdfunding platform. Dr Jothi is very proud that Apollo hospitals have never had to turn down a patient due to financial limitations, and routinely assists patient families in economic need through various resources.