Evaluation of right and left ventricular function using speckle tracking echocardiography in patients with arrhythmogenic right ventricular cardiomyopathy and their first degree relatives

Seventeen male patients, fulfilling Task force criteria for ARVC, 49 (32–70) years old, nineteen male first degree relatives 29 (19–73) y.o. and twenty-two healthy male volunteers 36 (24–66) y.o participated in the study. Twelve-lead and signal-averaged electrocardiograms were recorded. All subjects underwent echocardiography. LV and RV diameters, peak systolic velocity from tissue Doppler and longitudinal strain based on speckle tracking were measured from the basal and mid segments in both ventricles. RV longitudinal strain measurement was successful in first degree relatives and controls (95 resp. 86%) but less feasible in patients (59%). Results were not systematically different between first degree relatives and controls. Using discriminant analysis, we then developed an index based on echocardiographic parameters. All normal controls had an index？<？l while patients with abnormal ventricles had an index between 1–4. Some of the first degree relatives deviated from the normal pattern.Longitudinal strain of LV and RV segments was significantly lower in patients than in relatives and controls. An index was developed incorporating dimensional and functional echocardiographic parameters. In combination with genetic testing this index might help to detect early phenotype expression in mutation carriers.Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by fibro-fatty substitution of the myocardium in the right (RV) and, not infrequently, in the left ventricle (LV). The loss of normal myocardium and the development of scar is associated with electrical instability manifested as ventricular arrhythmia and potential sudden death [1]. A less common manifestation is right ventricular dysfunction causing heart failure and thromboembolism. ARVC is typically transmitted as an autosomal dominant trait with variable expressivity and penetrance [2]. Current guidelines recommend that all first degree relatives of a patient with ARVC undergo screening as sudd