Best Marfan Syndrome Doctors in Mumbai

Marfan syndrome is an inherited disorder that weakens connective tissue, affecting the heart, eyes, blood vessels, and skeleton. The severity can vary from mild to severe, with potentially life-threatening complications if the aorta is involved. This condition is caused by a gene defect that affects the production of proteins responsible for the elasticity and strength of connective tissue. While most people inherit this disorder from their parents, about 25% of cases result from a spontaneous gene mutation without a clear cause.

Apollo Hospitals in Mumbai boasts renowned doctors for connective tissue disorder who are committed to providing excellent patient care. At Apollo Hospitals, individuals can consult with the best doctors specialising in Marfan syndrome treatment for timely diagnosis and proper treatment.

Types/Stages of Marfan Syndrome

Marfan syndrome does not have distinct stages or types. Its manifestation varies greatly among individuals based on the mutation of the gene.

Symptoms of Marfan Syndrome

Due to its impact on various areas of the body, symptoms of Marfan syndrome differ among patients, even within the same family. Doctors specialising in Marfan syndrome treatment observe patients for these symptoms:

Physical appearance:

• Tall and thin body build

• Disproportionately long arms, legs, fingers and toes

• Long, narrow face

Skeletal system:

• Curved spine (scoliosis)

• Protruding or indented breastbone (sternum)

• Flat feet

• Hypermobile joints

Eye issues:

• Nearsightedness

• Dislocated lens

• Early-onset cataracts

• Glaucoma

Cardiovascular system:

• Aortic aneurysms

• Enlarged heart

• Abnormal heart rhythm

• Mitral valve prolapse

Lung issues:

• Asthma

• Bronchitis

• Spontaneous pneumothorax (collapsed lung)

Tests to Diagnose Marfan Syndrome

The best doctors for Marfan syndrome at Apollo Hospitals in Mumbai employ a comprehensive approach to accurately diagnose this genetic disorder, involving these key steps:

• Medical History Assessment: Doctors gather detailed information about the patient's family history, including any known cases of Marfan syndrome or early, unexplained cardiovascular conditions.

• Physical Examination: This includes precise measurements of the musculoskeletal system and a detailed inspection of the eyes, skin, heart and lungs.

• Advanced Imaging Tests: To evaluate the heart, lungs and eyes comprehensively, the doctors may order various imaging tests, such as CT scans, MRI and echocardiography.

• Genetic Testing: Genetic testing is crucial for confirming the diagnosis by identifying mutations in the FBN1 gene and for screening related conditions that may affect patients and their families.

• Ghent Criteria Application: To confirm the diagnosis of Marfan syndrome, doctors compare the patient's signs and symptoms against the Ghent criteria, a comprehensive set of characteristic features associated with the condition.

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

At Apollo Hospitals in Mumbai, experienced doctors for connective tissue disorder and doctors for aortic aneurysms provide personalised treatment, working closely with patients and their families to ensure the best outcomes. Available treatments include:

• Medications: Beta-blockers and other medications may be prescribed to manage blood pressure, reduce stress on the aorta, and prevent aortic aneurysms.

• Monitoring: Regular check-ups with a cardiologist, ophthalmologist, and orthopaedist are scheduled to monitor symptoms, track disease progression, and prevent complications.

• Lifestyle Changes: Patients are advised to avoid strenuous activities and contact sports, maintain a healthy weight, and engage in regular, low-impact exercise.

• Surgery: Aortic root replacement, valve-sparing aortic root replacement, and other vascular surgeries may be necessary to repair or replace damaged tissues.

• Genetic Counselling: Patients and families receive education about the genetic nature of Marfan syndrome, its inheritance patterns, and the implications for family planning.