Woman with rare genetic disease undergoes heart surgery in Delhi

New Delhi: Doctors at a private hospital here performed a heart surgery on a 23-year-old patient, suffering from a rare genetic disease, to replace a ball-sized blood vessel.

The patient's brothers were found to have heart issues and her mother had undergone a heart surgery almost 15 years ago.

The woman developed chest pain last week and was brought to Aakash Healthcare, Dwarka.

Doctors at the hospital said she was found to be suffering from Marfan syndrome, a rare inherited disorder that affects connective tissue and organs such as the heart, eyes, blood vessels, and bones.

According to the specialists, the disease caused her ascending aorta (the main artery that carries blood away from the heart to the rest of the body) to become 6.5 cm-wide, double the normal width and could have ruptured anytime, causing her sudden death, a statement from the hospital said.

The doctors replaced the valve and a part of the aorta using an artificial graft that gave her a fresh lease of life.

Dr Abhay Kumar, Director, Department of Cardiac Surgery, Aakash Healthcare, Dwarka, said, "The Marfan syndrome made the tissue of the aorta's outer wall thinner, and there was a risk of rupture. Aortic dissection can be fatal as there is a one percent risk of death with every passing hour. About 50 per cent of untreated patients of aortic dissection may die as quickly as in two days. If the diameter of the aorta is 4.5 cms or more, it is an indication of the 'Bentall' procedure".

Considering her age and the proper functioning of all other organs, it was decided to be the right procedure for her, he said.

Explaining about the procedure, he said it is a complex and high-risk surgery and successful completion requires significant expertise and efficient teamwork.

The surgery requires stopping the blood supply to the body completely and controlling blood supply to the brain to prevent paralysis for some time, he said.

"We were very careful as we were aware how former New Zealand cricketer Chris Cairns recently suffered a stroke in the spine during surgery to correct his aortic dissection. An extracorporeal membrane oxygenation (ECMO) was used to pump and oxygenated blood outside her body during the period of surgery and we completed the surgery successfully after seven hours. Bentall was the only procedure that could have saved her life. She is doing fine and can lead a healthy, normal life," he said.

The woman's mother also had a similar heart problem and successfully underwent a Bentall surgery 15 years ago, the doctor said.

"Due to the genetic nature of Marfan syndrome, doctors advised her two brothers, who have tell-tale signs of the disease and are both in their 20s, to get tested," said Dr Amrish Kumar, Consultant, Department of Cardiac Surgery, Aakash Healthcare, Dwarka.

The tests revealed that they too have already developed heart problems, he said.

Named after Professor Hugh Bentall, a British cardiologist, the Bentall procedure refers to an open-heart surgery that involves replacing the affected valve and aorta and reconnecting the coronary arteries.

Dr Ashish Agarwal, Director, Cardiology, at the hospital, said, "The long-term survival of Bentall patients after surgery is 93 per cent after five years and 89 per cent after 10 years."

The patient said she had never had any heart-related problems earlier and after learning about the condition, she was shocked.

"But I am thankful to the doctors for their expert and prompt action that helped save my life. Besides, they anticipated that my brothers may also have a heart problem due to Marfan syndrome, which turned out to be true, and that saved their lives too," she said.