Testimonials

Mrs. Priya Banerjee, a 52-year-old woman from somewhere in Guwahati having heart disease; symptomatic for 4 years with episodes of palpitation that occasionally led to chest tightness, anxiety, fatigue, and also recent exertional syncope. During initial workup, TTE (transthoracic echocardiogram) revealed left-side heart failure (ejection fraction 25%), and ECG holter monitoring showed sinus rhythm and occasional VPB (ventricular premature beats) bigeminy. To further characterize the disease and find the etiology, no valvular disease was detected and cardiac MRI (magnetic resonance imaging) CMR (cardiovascular magnetic resonance imaging) suggested IDCM (Idiopathic Dilated CardioMyopathy), LLC (Lake Louise Criteria); the thallium myocardium perfusion scan was also unremarkable except for mild ischemia in a midventricular segment of anterior wall. 

The patient received an implantable cardioverter-defibrillator (ICD) implantation as secondary prevention for life-threatening arrhythmia (after a VT attack). Her family history included her father had a heart transplantation surgery; his heart condition had a similar clinical picture. To date, the off-spring’s clinical screening for evidence of DCM (dilated cardiomyopathy) has been negative despite detecting some genetic variants related to DCM.

The family’s pedigree recommended an autosomal dominant pattern of inheritance for DCM with 50% recurrence risk. After several comprehensive counselling sessions, all possible genetic investigations were thoroughly discussed.

Her physician suggested to undergo cardiac genetic testing for her two sons in this case along with her.

Various variations in different genes coding crucial proteins in cardiac muscle structure like Titin, Obscurin, MYH6, LAMA4, and proteins involved in channels such as CAVNA1C, SCN1B, and SCN5A, were detected.

The genetic tests revealed her elder son had 45% risk of DCM whereas another one has 15% risk. The Cardiologist framed their management plan looking at their genetic tests and improve their lifestyle and delay the chances of complications.

Both the boys maintained the same lifestyle as suggested by doctor.