Photo has been used for illustrative purposes.

Mariecar Jara-Puyod, Senior Reporter

A rare genetic disorder that affects the body’s connective tissue was discovered to be the root cause of the near-death severe cardiac condition of a 25-year-old expatriate in the UAE, recently.

Three-year Abu Dhabi resident Muhammad Arshad from Pakistan would hopefully be discharged after three days.

The Madrasah teacher had been moved from the Critical Care Unit of the Burjeel Hospital in the capital, to his own room, already mobile, and under rehabilitation therapy.

Consultant cardiologist Dr. Walid Shaker said on Tuesday: “What is important now is that with cases like this coming to the fore, the public gets and is educated about these types of genetics issues.”

The genetic problem, Marfan Syndrome, was traced to have triggered Arshad’s sudden chest pain, a week prior to Sept. 16 (Wednesday), and was emergency-diagnosed with the life-threatening Acute Aortic Dissection.

“It would help people in realising that hyperelasticity characteristics are not always normal but might be as a result of a certain medical condition such as Marfan Syndrome as in this case,” said Shaker.

He explained that the hyperelasticity happens as Marfan Syndrome, arising from genetic mutations, damages the “body’s connective tissue which holds all the cells, organs and tissues together and makes them hyperelastic. This leads to the dilation of the walls of their blood vessels and dissection (tearing up) occurs.”

Shaker led the 22-hour surgery on Arshad whose “dissected (torn) aortic valve, root and arch” had been replaced with artificial tubes.

Through time, Arshad’s undiagnosed Marfan Syndrome had the walls of his blood vessels fragile, particularly impacting his major blood-carrying artery.

Shaker wants to raise community awareness on Marfan Syndrome: “It is well-known in the medical field. But (those who are unaware) may normally consider that hyperelasticity characteristics of the human body are natural, when it is not.”

Sufferers are “usually taller, have enlarged joints and bigger and longer fingers and toes.” They do not manifest early on any signs and symptoms. A full genetic study has to be performed and completed to confirm it.”

Shaker quoted Marfan Foundation records: those born with it are one in 5,000 people with three out of four inheriting it from a parent while others are the first in the family tree due to “spontaneous mutation.”