Best Doctors for Marfan Syndrome in Mysore

Types/Stages of Marfan Syndrome

Marfan syndrome does not have distinct stages or types, but the severity and manifestations of the condition can vary widely among individuals.

Symptoms of Marfan Syndrome

The symptoms of Marfan syndrome can vary significantly among individuals and even within families due to its broad impact on different areas of the body:

Physical features:

• Long, narrow face

• Tall and thin body build

• Long arms, legs, fingers and toes

• Breastbone that is protruding or indented

Eye problems:

• Nearsightedness

• Cataracts

• Retinal detachment

• Glaucoma

Heart problems:

• Aortic aneurysm

• Enlarged heart

• Abnormal heart rhythm

• Mitral valve prolapse

Lung issues:

• Asthma

• Recurrent bronchitis

• Spontaneous pneumothorax (collapsed lung)

Skin changes:

• Stretch marks due to less elastic skin

• Easy bruising

Tests to Diagnose Marfan Syndrome

Here are the steps used by the best doctors for Marfan syndrome at Apollo Hospitals in Mysore to diagnose this syndrome:

• Family and Personal Medical History: Doctors inquire about family members with Marfan syndrome or early, unexplained heart-related conditions.

• Physical Examination: The examination includes measuring arm and leg proportions, examining eyes, skin and musculoskeletal system, and listening to heart and lungs.

• Imaging Tests: Tests may include CT scans, MRI, echocardiography and other imaging to evaluate heart, lungs and eyes.

• Genetic Testing: Genetic testing is often used to confirm the presence of mutations in the FBN1 gene and to screen for associated genetic conditions.

• Ghent Criteria: The diagnosis is confirmed by comparing the patient’s signs and symptoms against the Ghent criteria, encompassing characteristic features associated with Marfan syndrome. 

Treatment or Surgery Options for Marfan Syndrome at Apollo Hospitals, Mysore

At Apollo Hospitals in Mysore, advanced facilities and highly experienced doctors for connective tissue disorders ensure each patient receives personalised care. The doctors specialising in Marfan syndrome treatment adopt a comprehensive patient-centric approach to manage this disorder, which may include:

• Medications: Beta-blockers are prescribed to maintain lower blood pressure and reduce stress on the aorta, mitigating the risk of complications like aortic dissection.

• Regular Monitoring: Tests such as echocardiograms and imaging scans are performed regularly to monitor the progression of aortic enlargement and other associated conditions.

• Lifestyle Adjustments: Patients are recommended to avoid heavy lifting and competitive sports to reduce strain on the aorta.

• Surgery: In some cases, preventive surgery may be required to repair an enlarged or torn aorta, lens removal for dislocated lenses or scoliosis surgery for severe spinal curvature. 

• Genetic Counselling: This involves educating patients and their families about the genetic aspects of Marfan syndrome, its inheritance patterns, and family planning considerations.