Study improves sudden cardiac death prevention in patients with heart muscle disease

Cardiomyopathies are heritable heart muscle disorders that cause sudden cardiac death (SCD). The UCL Centre for Heart Muscle disease has worked for many years to develop prediction tools that can be used to identify and protect individuals at the greatest risk using implantable cardioverter defibrillators (ICD).

In a study published in the European Heart Journal, an international team led by Dr Alexandros Protonotarios and Professor Perry Elliott from the UCL Institute of Cardiovascular Science, show how knowledge of genotype is crucial in the stratification of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC), a disease that often causes SCD in young athletic individuals.

The findings from this study will enable clinicians to offer more individualised care for patients with ARVC and provides a template for similar studies in patients with other forms of potentially lethal heart muscle disease.

Dr Protonotarios was funded by the British Heart Foundation for the duration of the study.

Figure: Typical ventricular tachycardia (Top) and structural abnormalities (bottom) in a patient with ARVC caused by a PKP2 variant.

Reference:

Alexandros Protonotarios, Riccardo Bariani, Chiara Cappelletto, Menelaos Pavlou, Alba García-García, Alberto Cipriani, Ioannis Protonotarios, Adrian Rivas, Regitze Wittenberg, Maddalena Graziosi, Zafeirenia Xylouri, José M Larrañaga-Moreira, Antonio de Luca, Rudy Celeghin, Kalliopi Pilichou, Athanasios Bakalakos, Luis Rocha Lopes, Konstantinos Savvatis, Davide Stolfo, Matteo Dal Ferro, Marco Merlo, Cristina Basso, Javier Limeres Freire, Jose F Rodriguez-Palomares, Toru Kubo, Tomas Ripoll-Vera, Roberto Barriales-Villa, Loizos Antoniades, Jens Mogensen, Pablo Garcia-Pavia, Karim Wahbi, Elena Biagini, Aris Anastasakis, Adalena Tsatsopoulou, Esther Zorio, Juan R Gimeno, Jose Manuel Garcia-Pinilla, Petros Syrris, Gianfranco Sinagra, Barbara Bauce, Perry M Elliott, Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator, European Heart Journal, 2022;, ehac235, https://doi.org/10.1093/eurheartj/ehac23