Carvajal syndrome: a brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene
Author:
Affiliation:
1. Republican Scientific and Practical Center «Cardiology»
2. The Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
3. The Republican Scientific and Practical Center for Pediatric Surgery
Publisher
Silicea - Poligraf, LLC
Subject
Cardiology and Cardiovascular Medicine
Reference36 articles.
1. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated ardiomyopathy J. Am. Acad. Dermatol. 1998;39:418-21. doi:10.1016/S0190-9622(98)70317-2.
2. Nehme N, El Malti R, Roux-Buisson N, et al. Evidence for genetic heterogeneity in Carvajal syndrome. Cell Tissue Res. 2012;348(2):261-4. doi:10.1007/s00441-012-1351-6.
3. Boule S, Fressart V, Laux D, et al. Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. Int. J. Cardiol. 2012;161:50-2. doi:10.1016/j.ijcard.2012.06.068.
4. Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Path. 2004; 13(4): 185-94. doi: 10.1016/j.carpath.2004.03.609.
5. Protonotarios N, Tsatsopoulou A, Anastasakis A, et al. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol. 2001;38:1477-84.
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