Naslov
Case report: a 55-year-old patient with hypertrophic cardiomyopathy and heterozygous missense variant of TTN and MYH6 genes

Autori
Klobučar, Lucija ; Breškić Ćurić, Željka ; Lukić, Ivana ; Selthofer-Relatić, Kristina

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Cardiologia Croatica / Ivanuša, Mario - Zagreb : Hrvatsko kardiološko društvo, 2023, 149-149

Skup
12th Croatian Biennial Echocardiography Congress with International Participation

Mjesto i datum
Poreč, Hrvatska, 21.04.2023. - 24.04.2023

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
Hypertrophic cardiomyopathy ; genetic mutation ; family screening

Sažetak
Left ventricular hypertrophy (LVH) diagnosed by echocardiography has broad differential diagnosis. LVH is most frequently caused by abnormal loading conditions (i.e. uncontrolled arterial hypertension and valvular heart disease). When LVH cannot entirely be explained by abnormal loading conditions the diagnosis of hypertrophic cardiomyopathy (HCM) is made. The most common cause of HCM is mutation in cardiac sarcomere protein genes. Some of the less common causes of HCM are metabolic, infiltrative and neuromuscular diseases1 . Genetic testing is important in recognizing family members at risk of developing HCM. Detected variants of cardiac sarcomere protein genes can be classified (and reclassified) as pathogenic/ likely pathogenic, benign/ likely benign and variant of unknown significance (VUS).

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA