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Tytuł:
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Dilated cardiomyopathy in patients with mutations in anoctamin 5.
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Autorzy:
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Wahbi K; AP-HP, GH Pitié Salpêtrière, Centre de Référence de Pathologie neuromusculaire Paris Est, Institut de Myologie, Paris, France. />Béhin A
Bécane HM
Leturcq F
Cossée M
Laforêt P
Stojkovic T
Carlier P
Toussaint M
Gaxotte V
Cluzel P
Eymard B
Duboc D
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Źródło:
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International journal of cardiology [Int J Cardiol] 2013 Sep 20; Vol. 168 (1), pp. 76-9. Date of Electronic Publication: 2012 Oct 03.
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Typ publikacji:
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Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Publication: Amsterdam : Elsevier
Original Publication: Amsterdam : Elsevier/North-Holland Biomedical Press, c1981-
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MeSH Terms:
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Cardiomyopathy, Dilated/*diagnosis
Cardiomyopathy, Dilated/*genetics
Chloride Channels/*genetics
Mutation/*genetics
Adult ; Aged ; Anoctamins ; Cardiomyopathy, Dilated/physiopathology ; Female ; Humans ; Male ; Middle Aged ; Prospective Studies
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Contributed Indexing:
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Keywords: ANO5; Anoctamin 5; Dilated cardiomyopathy
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Substance Nomenclature:
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0 (ANO5 protein, human)
0 (Anoctamins)
0 (Chloride Channels)
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Entry Date(s):
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Date Created: 20121009 Date Completed: 20140506 Latest Revision: 20171116
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Update Code:
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20240104
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DOI:
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10.1016/j.ijcard.2012.09.070
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PMID:
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23041008
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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.
(Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)
