Time to change the family diagnosis: Arrhythmogenic left ventricular cardiomyopathy

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/24:10488758

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Time to change the family diagnosis: Arrhythmogenic left ventricular cardiomyopathy

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Time to change the family diagnosis: Arrhythmogenic left ventricular cardiomyopathy

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

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

Název periodika

Cor et Vasa

ISSN

0010-8650

e-ISSN

1803-7712

Svazek periodika

66

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

4

Strana od-do

525-528

Kód UT WoS článku

001414878600008

EID výsledku v databázi Scopus

2-s2.0-85208230906