Time to change the family diagnosis: Arrhythmogenic left ventricular cardiomyopathy

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F24%3A10488758" target="_blank" >RIV/00064165:_____/24:10488758 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/24:10488758

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=uLMPBuDaeq" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=uLMPBuDaeq</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.33678/cor.2024.033" target="_blank" >10.33678/cor.2024.033</a>

Result language

angličtina

Original language name

Time to change the family diagnosis: Arrhythmogenic left ventricular cardiomyopathy

Original language description

Arrhythmogenic cardiomyopathy is an inherited cardiomyopathy characterized by fibrofatty replacement and a high risk of ventricular arrhythmias and sudden cardiac death. This myocardial disorder is typically transmitted through autosomal dominant pattern and caused by pathogenic variants in the desmosomal and extradesmosomal genes. In this case, we are presenting a family with three members who have arrhythmogenic left ventricular cardiomyopathy. The condition was found to be caused by a nonsense mutation (c.1754 T&gt;G (p. Leu585Ter)) in the desmoplakin (DSP) gene. Unfortunately, two of the family members were initially misdiagnosed and treated for coronary artery disease, which was not the correct diagnosis. This case demonstrates the importance of accurate differential diagnosis and the usefulness of magnetic resonance imaging (MRI) in establishing the correct diagnosis of arrhythmogenic cardiomyopathy.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Cor et Vasa

ISSN

0010-8650

e-ISSN

1803-7712

Volume of the periodical

66

Issue of the periodical within the volume

5

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

4

Pages from-to

525-528

UT code for WoS article

001414878600008

EID of the result in the Scopus database

2-s2.0-85208230906