SCIENTIFIC JOURNAL of the Hungarian Society of Cardiology

Uncommon presentations of arrhythmogenic cardiomyopathy – when genetic testing helps

█ Case report

DOI: 10.26430/CHUNGARICA.2022.52.5.33

Dohy Zsófia1, Fekete Bálint1, Csonka Katalin2, Nagy Beáta2, Fintha Attila2, Szabó Liliána1, Juhász Vencel1, Czibor Sándor3, Balla Dorottya1, Tomcsányi János4, Karlócai Kristóf5, Matolcsy András2, Merkely Béla1, 6, Bödör Csaba2*, Vágó Hajnalka1, 6*
1Semmelweis Egyetem, Városmajori Szív- és Érgyógyászati Klinika, Budapest
2Semmelweis Egyetem, Patológiai és Kísérleti Rákkutató Intézet, Budapest
3Semmelweis Egyetem, Orvosi Képalkotó Klinika, Nukleáris Medicina Tanszék, Budapest
4Budai Irgalmasrendi Kórház, Kardiológiai Osztály, Budapest
5Semmelweis Egyetem, Pulmonológia Klinika, Budapest
6Semmelweis Egyetem, Sportorvostan Tanszék, Budapest
Levelezési cím:
Dr. Vágó Hajnalka, e-mail:,
Dr. Bödör Csaba, e-mail:
*Egyenlően járultak hozzá.


The diagnosis of arrhythmogenic cardiomyopathy (ACM) arises in case of palpitation or syncope during exercise, sudden cardiac death, or arrhythmias with right ventricular (RV) origin. The diagnosis of ACM with RV dominance is based on the revised 2010 Task Force criteria, however, biventricular or left ventricular (LV) ACM often do not fulfill these criteria. In these cases, cardiac magnetic resonance (CMR) with contrast enhancement and genetic testing have a central role in the diagnosis.
We report two cases when clinical symptoms or Task Force criteria were not specific to ACM. A 58-year-old female patient was examined because of heart failure. Echocardiography proved dilated RV, reduced RV function, tricuspid regurgitation and slightly elevated pulmonary pressure. CMR showed elevated RV volumes, significantly reduced RV ejection fraction, RV and LV wall motion abnormalities and extended contrast enhancement with nonischemic pattern. CMR raised the suspicion of cardiac sarcoidosis or biventricular ACM. FDG PET-CT showed no myocardial uptake referring to cardiac sarcoidosis. Genetic testing proved pathogenic mutation in Desmoglein 2 gene, thus we made a diagnosis of biventricular ACM.
A 56-year-old male patient was examined after syncope in rest. Normal coronary arteries were represented with coro­narography. Non-sustained ventricular tachycardia was detected with telemetry; ventricular tachycardia could be triggered during electrophysiology examination. CMR proved slightly reduced LV ejection fraction, slightly elevated LV volumes and normal RV parameters. Midmyocardial lipid accumulation was detected in the septum according to T1 weighted and fat suppression images and the reduced T1 mapping parameters, moreover, subepi-midmyocardial fibrosis was detected in the inferior segments. Based on the atypical CMR finding, ACM with LV dominance was probable, which was confirmed with genetic testing proving Desmoplakin gene mutation.
The reported cases confirm the central role of CMR and genetic testing in the diagnosis of biventricular or LV ACM.


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