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Marfan syndrome: Treatment, symptoms, advice and help

About Marfan syndrome

Marfan syndrome is a rare, genetic disorder characterised by dysfunction of the connective tissue of the body which is responsible for providing support and strength to other tissues of the body. This results in involvement of the blood vessels, the bones, the eyes and the skin.

Marfan syndrome: Incidence, age and sex

Marfan syndrome is a rare genetic disorder and is present right from birth. 1 in every 10,000 individuals is affected with this chromosomal disorder. It is mostly inherited from the parents; however it may occur sporadically without any family history, in about 30% of individuals.

Signs and symptoms of Marfan syndrome: Diagnosis

The clinical spectrum of Marfan syndrome includes physical abnormalities, involvement of the heart and eyes and mild-learning disabilities. Individuals with Marfan syndrome have tall stature with thin limbs. The arm span is more than the height. Affected individuals have spider like fingers which are termed as ‘arachnodactyly’. Other features include flat feet, high arched palate, over-flexible joints and abnormal curvature of spine. Eye involvement may result in myopia (near-sightedness). Involvement of the heart or the aorta (major blood vessel of the heart) may manifest as irregular heart rate or mild chest discomfort. Occasionally, some individuals may also exhibit learning disabilities.

The syndrome can be suspected by finding the above clinical features in an affected individual. Chest and eye examination may help in corroborating the diagnosis. Investigations like ECHO (a kind of cardiac ultrasound) or genetic testing may also be considered when diagnosis is certain.

Causes and prevention of Marfan syndrome

Marfan syndrome is an autosomal dominant, genetic disorder which results due to deficiency of gene named ‘fibrillin-1’ which plays an important role in building the connective tissue of the body. Defect in this gene leads to poor or incomplete development of the connective tissue, thereby affecting blood vessels, bones, eyes and skin. Individuals with family history of the Marfan syndrome are recommended to go in for genetic counselling, if they are planning a family.

Marfan syndrome: Complications

The complications of Marfan syndrome are occasional and include aortic aneurysm which may progress to rupture of the aorta in rare instances. Other cardiac complications like mitral valve prolapse or endocarditis may lead to potentially fatal conditions like heart failure.

Marfan syndrome: Treatment

Most of the individuals with Marfan syndrome lead a normal and productive life. The management of this syndrome includes a multi-dimensional approach.

A cardiologist is needed for proper evaluation of heart and aorta. Medications like beta blockers may be prescribed to de-stress aorta and prevent dilatation. Prophylactic antibiotic medication is usually prescribed before any dental procedure to prevent the complication of endocarditis. An annual examination of heart by echocardiography is recommended for evaluation of commencement of any heart complication.

An eye specialist examines the eye and may advice eye-glasses or contact lens for myopic vision. Regular eye examination is also advisable to assess for any retinal changes. A comprehensive assessment by an orthopaedist is also needed who may advise braces for stabilization of spine. Special educational aid may be required for occasional individuals with mild learning disabilities. Overall, the outlook of this syndrome is good and affected individuals lead a successful life with a normal life span.

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