• Kochi: (0) 484 2852100, 6682100, Faridabad: 0129-2851234

Centre for Aortic Diseases and Marfan Syndrome

The aorta is the biggest blood vessel in the body and it carries blood from the heart to the rest of the body. A number of diseases can affect the aorta leading on to Aneurysm formation (enlargement of the aorta), Dissection (tear in the wall of the aorta) and stenosis (narrowing of the aorta). These are potentially life threatening conditions necessitating early diagnosis and appropriate treatment.
The common diseases that can affect the aorta include hypertension and atherosclerosis leading on to the above mentioned disorders. But a number of genetic and connective tissue disorders can also affect the aorta like Marfan Syndrome, Ehlers Danlos Syndrome and Loeys Dietz Syndrome among others. Connective tissue disorders affect multiple structures in the body like heart valves, blood vessels, eyes, bones and nervous system.
Thus providing a comprehensive care to these patients requires involvement of doctors across multiple specialities to provide care and long term follow up. Keeping this in mind, the Amrita Institute of Medical Sciences has started a dedicated Centre for Aortic Diseases and Marfan Syndrome. The aim of the centre is to provide a patient centric approach involving doctors from various departments with a special interest in diseases of the aorta to give patients the best possible care of their disease.
The Centre for Aortic Diseases and Marfan Syndrome at Amrita would become a referral centre for comprehensive treatment of diseases involving the aorta which include the entire spectrum of surgical interventions, key hole endovascular treatment, hybrid procedures, and percutaneous aortic valve replacement (TAVI).

The Amrita Centre for Aortic Diseases and Marfan Syndrome will provide:

  • Diagnosis
  • Genetic workup in patients with familial diseases of the aorta like Marfan syndrome
  • Apart from Marfan syndrome the centre will diagnose and treat other connective tissue diseases related to the aorta such as Loeys-Dietz syndrome, Ehlers-Danlos syndrome and familial aortic aneurysm
  • Treatment including medical management and open, hybrid and endovascular surgical treatment
  • Counselling for women in reproductive age group and special antenatal care for patients with Marfan syndrome who are pregnant
  • Periodic check-up for asymptomatic Marfan syndrome patients

Marfan Syndrome

Marfan Syndrome is an inherited genetic disorder that affects the connective tissue in the body. It affects 1 in 5000 people and it affects males and females equally. The connective tissue is basically the gel that binds the cells and tissues together and hence is essential for normal growth and development of all organs in the body. Increasing awareness among the medical and general community has led to an increasing diagnosis of this condition leading to earlier detection and proper treatment.


Marfan Syndrome occurs due to a mutation in the gene that codes for a protein called fibrillin 1. Fibrillin 1 in turn is important in the makeup of connective tissue in various parts of the body. 75% people with Marfan Syndrome inherit it from their parents. The remaining 25% with Marfan Syndrome develop it because of a spontaneous mutation and thus do not have a family history of the disease. A patient with Marfan syndrome has a 50% chance of transmitting the affected gene to his children, as the inheritance pattern is what is termed as autosomal dominant.

Manifestations of the disease

They have hyperextensible joints meaning they have more than normal mobility at some joints in the their body. Fibrillin containing connective tissue is present throughout the body so the manifestations of Marfan Syndrome can affect various parts of the body. The most visually characteristic features of Marfan Syndrome are its affects on the skeletal system. Patients are typically tall and thin in stature with long arms and legs.
They can also have chest wall deformities like a depressed or prominent breastbone and abnormal curvatures in the spine.
This disease also commonly affects the heart and blood vessels. In the heart it can cause leaks in the valves leading on to enlargement of the heart and eventually heart failure. Also over time it causes gradual enlargement of the major blood vessel of the body, the aorta, arising from the heart causing aortic aneurysm formation and sometimes even tears in the aorta called aortic dissection. The importance of the involvement of the heart and blood vessels in Marfan Syndrome is that it is usually the cause of death in these patients.
The eyes are also characteristically affected in Marfan syndrome causing a classical lens dislocation but this does not interfere with vision. However they also develop short sight and early onset cataract and glaucoma which can affect vision.
The skin is also affected by Marfan syndrome causing stretch marks and the nervous system can also be involved and is manifested by swelling of the membrane covering the spinal cord causing lower back and leg pains.
Marfan syndrome can also affect the lungs causing emphysema or over inflated lungs, lung collapse and asthma. This disease does not affect intelligence.
Manifestations of the syndrome can occur at any age with some patients displaying signs at a young age and some only manifesting the disease later on in life. There is currently no cure for the disease. The importance of early diagnosis of the disease is for providing regular follow up of the affected organs to detect problems before they become life threatening and thus in turn provide better outcomes. Also early detection allows for genetic counseling for family members and also discussion regarding risk of transmitting the gene to their children.
Being a disease that affects various organs and has implications for family members as well it is important to get treated at a center with knowledge, experience and expertise in treating Marfan Syndrome and other related disorders.
Amrita Institute of Medical Sciences in Kochi, Kerala has a dedicated Marfan Syndrome and Aortic Center, which comprises of a team of doctors from various specialties with a dedicated interest in diseases of the Aorta. This facilitates a comprehensive care of the patient as a whole.
The procedures done for aorta related diseases include aortic valve repair and replacement, aortic root replacement (Bentall procedure), valve sparing root replacement (David Procedure), ascending aorta replacement, aortic arch surgery, and descending thoracic and thoracoabdominal aortic surgery. Endovascular (keyhole) aortic surgeries are also done in appropriate patients.
At Amrita, we have surgeons who have received specialized training in aortic diseases so that we provide all the latest surgical options in aortic diseases like valve sparing aortic root replacement, aortic arch surgery and keyhole endovascular repairs of the aorta.

Multidisciplinary Team


The adult cardiology faculties with expertise in advanced cardiac imaging, catheterization and endovascular therapy support the program with diagnosis, hemodynamic decision making, endovascular therapies and trans aortic valve replacement (TAVI).

  • Dr. M. Vijayakumar
  • Dr. Rajiv C
  • Dr. Navin Mathew
  • Dr. Hisham Ahmed
Cardiovascular and Thoracic Surgery

The Cardiovascular and Thoracic surgical team has years of experience in cardiovascular surgical procedures and have additional experience in tackling diseases of the aorta. Procedures done here include Aortic valve repairs and replacement, Aortic root replacement (Bentall procedure), Valve sparing aortic root replacement (David Procedure), Open, hybrid and endovascular (key hole) repairs of the aortic arch, thoracic and thoraco abdominal aortic aneurysms.

  • Dr. Praveen Varma
  • Dr. Kirun Gopal
  • Dr. Rajesh Jose
Genetics and Molecular Biology

The genetic and molecular biology specialists in congenital heart diseases support the program with genetic workup in Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos Syndrome and familial aortic aneurysm.

  • Dr. Sheela Namboothiri
  • Dr. Lalitha Biswas

Ocular involvement in familial aortic syndromes like lens displacement, retinal detachment and severe myopia often needs highly skilled corrective procedures. We have highly motivated anterior and retinal specialists to manage the ocular problems in multisystem involvement.

  • Dr. Gopal S. Pillai
  • Dr. Anil Radhakrishnan
Obstetrics and Gynaecology

The quality of life is definitely going to improve with timely interventional treatment for the aortic diseases and often we need to address challenges of pregnancy and child birth in this group of patients. The specialist in antenatal care along with fetal medicine will take the responsibility of monitoring of pregnancy and child birth.

  • Dr. Chitra R.
Paediatric Cardiology

The paediatric cardiology faculties with large experience in cardiac interventional procedures and fetal echocardiography along with the cardiac surgical team for children will lead the diagnosis, evaluation, intervention and corrective surgeries.

  • Dr. R. Krishna Kumar
  • Dr. Mahesh K.
Paediatric and Congenital Heart Surgery

The team of surgeons with last 18 years of experiences in operating on children’s hearts will manage the surgeries in children with aortic diseases.

  • Dr. Brijesh P. K.

Radiological investigations are one of the most important steps in the evaluation and management of aortic diseases. We have state-of-the-art infrastructure for imaging like 264 slice CT, 3.5 tesla MRI scanner and catheterization facility. Diagnostic tests, interpretation and scientific input for the proper planning of the interventional procedures will be the role of radiologist in this program.

  • Dr. Rajesh Kannan


Is Marfan Syndrome a fatal disease?

No. Patients with Marfan Syndrome if diagnosed early and monitored regularly and treated accordingly can expect to have a near normal life expectancy.

Can Marfan Syndrome be cured?

No. Unfortunately it is a genetic disease so in today’s era it cannot be cured but it can be managed well.

Can I lead a normal life with Marfan Syndrome?

Yes. All normal activity is allowed. The only restriction would be for very heavy physical exertion. Any complications that occur due to Marfan Syndrome viz skeletal or eye problems etc. if they occur may need specific life style modifications.

Can I marry if I have Marfan Syndrome?

There is a risk of transmission of the disease to ones children. Ones individual risk can be discussed with a genetic counsellor once a diagnosis is made if one is considering marriage. Other than the risk of transmission to children there is no other problem for Marfan Syndrome patients getting married.

What should I do if I have been diagnosed with an aortic problem related to my Marfan Syndrome?

The important thing is to have regular follow up of the aortic disease and it should be treated at the appropriate time. It is better that you are followed up at a Center with specific interest and expertise in the disease to provide not only appropriate guidance but also the best available treatment.

Doctors /Faculties

Contact Us

Emergency Contact
  • Phone: 0484 – 2851555, 0484 - 6681555
  • Email: cvtscoordinator@aims.amrita.edu,cardiology@aims.amrita.edu
Ambulance Service
  • Phone: 0484 - 2856041, 0484-6686041
  • Fax: 0484 - 2856035
  • Email: ambulanceservices@aims.amrita.edu