Rare disease ’Anderson- Tawil Syndrome’ treated sucessfully at KMC hospital.

Rare disease ’Anderson- Tawil Syndrome’ treated sucessfully at KMC hospital.

Mangalore Today News Network

Mangaluru: August 10, 2015: KMC Hospitals, part of Manipal Health Enterprises, achieved another medical milestone by treating a family with an extremely rare condition called "Anderson- Tawil Syndrome" that results in sudden death. A team of doctors from KMC Hospital jointly managed this rare genetic disorder which, according to the hospital, is most likely to be the first genetically proven case of the same from India.

Anitha, 27, was evaluated by Dr Maneesh Rai, cardiac electro-physiologist, KMC Hospital for transient loss of consciousness (syncope). She had a family history of sudden death and had lost her mother and a younger brother, both at a young age to sudden death. The history was suggestive of an inherited cardiac rhythm disorder which is often responsible for such clustering of sudden deaths in the family.

Her ECG findings were characteristic of a rare genetic disorder called Anderson-Tawil Syndrome. The disorder was confirmed when genetic analysis done by Dr Girish Katta from the department of medical genetics, Manipal. It revealed a mutation in the same chromosome that causes this syndrome. This genetic condition is extremely rare and less than 100 families have been reported from all over the world. This will likely be the first genetically proven case of Anderson- Tawil to be reported from India, said KMC hospitals.

The patient underwent a rare surgical procedure called "Thoracoscopic Left Cardiac Sympathetic denervation," to get her rhythm into control. The procedure involves severing the nerves that supply the heart and was performed for the first time in Mangaluru by Dr Alfred Augustine, professor of surgery, KMC along with support from anesthetists Dr Madhusudhan and Dr Rammurthy.

Though the procedure has brought her rhythm under control, she still has a slight chance of suffering from life-threatening arrhythmias and needs a back-up Implantable defibrillator, a small round device that that will be placed beneath the skin of the left chest wall. In case of an arrhythmia, the defibrillator will deliver a "shock" and save her life, says the doctors who operated on her.

Unfortunately, four of her six siblings also suffer from the same condition. Though all of them are on close medical follow up at present, some may require similar procedures in the days to come.

"Treatment is costly, but it is the only hope, and with proper treatment we can restore near normal longevity. Now that the problem and its inheritance pattern is known, other family members can be screened for early disease which will greatly help in preventing further tragedies in the family," said Dr Maneesh Rai, cardiac electro physiologist, KMC Hospitals.

"This case also highlights the fact that not all syncope’s (faints) are benign and proper evaluation of syncope is essential," said Dr Padmanbh Kamath.

Dr Anand Venugopal, Medical Superintendent, KMC Hospitals said, "Not only KMC Hospitals have the latest equipment, but our doctors are equipped to handle extreme cases with utmost care making us one of the best units in the country."