Marfan syndrome: Woman, 18-year-old successfully operated in Hyderabad's Kamineni Hospital

Hyderabad: Marfan Syndrome is a rare connective tissue disorder that affects the whole body, including heart and blood vessels, bones, tendons, cartilage, eyes, skin, and lungs. The condition is considered rare in India, with the occurrence in 0.19 people per one lakh.

The FBN1 gene on chromosome 15 would be defective, which encodes a protein called fibrillin. This absence would cause a loss in elasticity of blood vessels, skin, and eyes. In most situations, the aorta enlarges and ruptures, leading to even casualties.

The condition is autosomal, where one affected parent is enough to transmit the disorder to the child. Experts advise continuous follow-ups in children with regular eye checkups since the lenses would be affected due to genetic disorders, while most patients would be taller than normal.

The success rate of emergency surgeries is as low as 20% while that of elective surgeries is 80%.

Vessels stretch for patients

The lack of the gene is transmitted hereditarily from the parent to the children. The connective tissues perform two major functions, as cementing material providing a framework for tissue assembly and as lubricant in bone joints.

Dr Vishal V Khanta, consultant cardiothoracic surgeon said, “The different parts of the body stretch on application of power and come back to the normal position after being released. But, this does not happen in patients with Marfan syndrome”.

During high pressure, the tissue keeps distancing, which happens in the heart and blood vessels carrying blood to other parts of the human body.

“During heartbeat, the valves and vessels should go back to normal position with every beat. But for these patients, some vessels including aorta stretches”, Dr Vishal said.

Lower success rates

A mother and her 18-year-old son have been successfully operated upon in Kamineni hospital, one in emergency and the other as elective surgery. The mother was taller than normal Indian women, with a height of 5 feet 9 inches, raising doubts among the doctors about the syndrome.

“The mother was admitted six months back with a ruptured aorta which was replaced by an artificial one. We doubted that her son would have similar syndrome as he had similar physical features and is 6 feet 4 inches tall”, Dr Vishal said.

On completing the tests and scans, he was found to have an aneurysmal aorta and had been operated upon, with the damaged aorta being replaced.

Dr Vishal added, “Several such cases are found in northern states in India including Haryana, while it is very less in south India”.

Symptoms and precautions

The syndrome can be identified before birth through genetic tests of the fetus and after birth through regular follow-ups, since it can be transmitted easily to children from parents.

“The genetic test has to be carried out during 12-15 weeks of pregnancy if there is a family history of the syndrome. They can discontinue the pregnancy if the tests are found positive”, Dr Vishal added.

People with the syndrome can exhibit features including long, narrow faces, tall and thin structures, curved spines, and flat feet. Crowded teeth, nearsightedness, lens subluxation, glaucoma, and retinal detachment are other key symptoms.

“These symptoms emphasize the need for screening children regularly in school for eye problems since most diseases including Marfan syndrome can be identified at a very young age”, Dr. Vishal added.