Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease

Autor:	Joanne Simpson, Joan Anusas, Denise Oxnard, Sylvia Wright, Ruth McGowan, Caroline Coats
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	arrhythmogenic cardiomyopathy desmoplakin blood spot Task Force criteria arrhythmogenic right ventricular cardiomyopathy Diseases of the circulatory (Cardiovascular) system RC666-701
Zdroj:	Cardiogenetics, Vol 11, Iss 4, Pp 219-229 (2021)
Druh dokumentu:	article
ISSN:	2035-8148 2035-8253
DOI:	10.3390/cardiogenetics11040022
Popis:	Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) has led to the newer term of arrhythmogenic cardiomyopathy (ACM). We report on a family with autosomal dominant desmoplakin (DSP) related ACM to illustrate the broad clinical spectrum of disease. The importance of evaluation of relatives with cardiac magnetic resonance imaging and consideration of genetic testing in the absence of Task Force diagnostic criteria is discussed. The practical and ethical issues of access to the Guthrie collection for deoxyribonucleic acid (DNA) testing are considered.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/6a96227cc8764e00b8cf54d4d70a56a7 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF