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Mutations in the desmoplakin (DSP) gene and arrhythmogenic right ventricular cardiomyopathy (ARVC), and dilated cardiomyopathy (DCM) – treatment and prognosis.

This research project focuses on mutations in the desmoplakin (DSP) gene, which is associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), and how physical activity impacts the prognosis in these patients. We also investigates the treatment and prognosis in patients with dilated cardiomyopathy (DCM).

Dilated cardiomyopathy (DCM) in an apical 4-chamber view on cardiac ultrasound
Dilated cardiomyopathy (DCM) in an apical 4-chamber view on cardiac ultrasound

The aim of this research project is to increase knowledge about mutations in the desmoplakin (DSP) gene. Mutations in the desmoplakin (DSP) gene have been associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), which may lead to the development of heart failure and life-threatening cardiac rhythm disturbances. We want to uncover whether physical activity is a risk factors in patients with DSP mutations. In addition, we focuses on patients with dilated cardiomyopathy (DCM), both on how they should be treated, their prognosis and when they should have an implantable cardiac defibrillator (ICD).

Researchers involved

Last updated 2/20/2025