Naslov
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND THE IMPORTANCE OF GENETIC TESTING– A CASE REPORT

Autori
Ševeljević, Ivan ; Vranić, Luka ; Vuksan, Ivan ; Belančić, Andrej ; Čubranić, Zlatko

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

Izvornik
Abstract book of International Medical Students' Congress Sarajevo, SAMED 2017 / - Sarajevo, 2017, 81-81

Skup
International Medical Students' Congress Sarajevo, SAMED 2017

Mjesto i datum
Sarajevo, Bosna i Hercegovina, 01.02.2017. - 05.02.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Arrhythmogenic right ventricular cardiomyopathy ; Genetic testing ; Implantable cardioverter defibrilator

Sažetak
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritable heart muscle disease. This rare structural disease predominately affects the right ventricle (RV), causing the fibrofatty replacement of the myocardium. ARVC is an important cause of ventricular arrythmias and sudden cardiac death (SCD), especially among young patients Case presentation: 42 year-old male patient presented with fatigue, lightheadedness, nausea and heart palpitations that began the day before and continued onward. Past medical history revealed hyperlipidemia and positive family history of heart diseases. ECG showed ventricular tachycardia with broad QRS complexes that persisted despite the antiarrhythmic therapy. Subsequently, the patient became hemodinamycally unstable and had to be cardioverted to synus rythm. Urgent coronarography showed normal coronary arteries. Inverted T waves in precordial leads and prolonged terminal activation delay (≥55 milliseconds) were present in repeated ECG’s. 24-hour Holter monitoring was conducted showing nonsustained ventricular tachycardia. Echocardiography showed slightly enlarged right ventricle (4- chamber diameter of 55 mm and RV:LV ratio of 1.0 without visible contraction failures). Heart MRI revealed regional RV hypokinesia with RV ejection fraction of 40.4% which meets the criteria for ARVC. Due to risk of the possible SCD implantable cardioverter defibrilator (ICD) was implanted and medical therapy with β-blockers, ACE inhibitors and statins was proposed. Blood sample taken for genetic testing showed DSP gene code mutation E1265X, confirming the diagnosis of ARVC. Conclusion: The present report describes an interesting case of ARVC and demonstrates the importance of genetic testing in diagnostic protocol. Genetic testing proves its quality when it comes to establishing diagnosis of the disease among presymptomatic family members and proposing genetic counseling. Moreover, this case presents the importance of ICD implantation in ARVC managment which is recommended for implantation in patients with documented sustained VT or VF.

Izvorni jezik
Engleski

POVEZANOST RADA