Dilated cardiomyopathy in patients with mutations in anoctamin 5

K Wahbi, A Béhin, HM Bécane, F Leturcq… - International journal of …, 2013 - Elsevier
K Wahbi, A Béhin, HM Bécane, F Leturcq, M Cossée, P Laforêt, T Stojkovic, P Carlier…
International journal of cardiology, 2013Elsevier
Background Homozygous mutations in ANO5, a gene encoding anoctamin 5, a putative
calcium-activated chloride channel, have recently been reported in patients with adult-onset
myopathies or isolated high-CK levels. Cardiomyopathy has not previously been reported in
these populations despite a proven expression of anoctamin 5 in the cardiac muscle.
Methods Patients presenting for the management of high-CK levels or overt myopathy with
proven ANO5 mutations were prospectively investigated between June 2010 and March …
Background
Homozygous mutations in ANO5, a gene encoding anoctamin 5, a putative calcium-activated chloride channel, have recently been reported in patients with adult-onset myopathies or isolated high-CK levels. Cardiomyopathy has not previously been reported in these populations despite a proven expression of anoctamin 5 in the cardiac muscle.
Methods
Patients presenting for the management of high-CK levels or overt myopathy with proven ANO5 mutations were prospectively investigated between June 2010 and March 2012 in Pitié Salpêtrière Hospital, according to a standardised protocol. Neurological and cardiological clinical examinations, CK assessment, electrocardiogram (ECG), and echocardiography were performed, as well as cardiac MRI and coronary CT angiography in patients with left ventricular (LV) dysfunction.
Results
Our study included 19 consecutive patients (male = 15, age = 46.2 ± 12.7 years) from 16 families. Five had asymptomatic high-CK levels and 14 had overt myopathy. One patient had a personal history of stable coronary artery disease with normal ventricular function. ECG showed ventricular premature beats in one patient. Echocardiography displayed LV dilatation in two patients, LV dysfunction in one, and both abnormalities in two who fulfilled criteria for dilated cardiomyopathy which was confirmed by cardiac MRI and normal CT angiography.
Conclusions
Dilated cardiomyopathy is a potential complication in patients with myopathies due to mutations in the ANO5 gene whose screening requires specific procedures.
Elsevier