P3689Association of echocardiographic progression and genetic profile in arrhythmogenic right ventricular cardiomyopathy

Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is frequently associated with mutations in genes coding for desmosomal proteins. In this study, we investigated the association of genetic status with ARVC progression as defined by echocardiographic parameters. Methods We tested 62 ARVC patients for their genetic profile. Accordingly, they were grouped in mutation positive (48 (77%) patients; median age 48.5 years; 33 (69%) males), and mutation negative (14 (23%) patients; median age 45 years; 10 (71%) males). Prevalent mutations were Desmoglein-2 (DSG2) in 16 (26%), Desmoplakin (DSP) in 14 (23%), and Plakophilin-2 (PKP2) in 9 (15%) patients. Results At baseline, there were no significant differences in clinical characteristics between the two groups. Patients were followed-up for a median time period of 1420 days, and there was no significant difference in the duration of follow-up between the two groups (p=0.05). In the mutation positive group, there was a significant increase in right ventricular end-diastolic area (p=0.002), right atrial short (p=0.008) and long (p=0.002) diameter, left atrial diameter (p=0.014), and a decrease in left ventricular ejection fraction (p=0.014) during follow up. Right ventricular functial parameters did not change significantly (tricuspid annular plane systolic excursion: p=0.24; fractional area change: p=0.088). In the mutation negative group, none of the aforementioned echocardiographic findings exhibited any significant difference during follow-up: right ventricular end-diastolic area (p=0.1); right atrial short (p=0.7) and long (p=0.9) diameter, left atrial diameter (p=0.6), and left ventricular ejection fraction (p=0.3). Similarly, right ventricular functional parameters did not change significantly (tricuspid annular plane systolic excursion: p=0.77; fractional area change: p=0.80. Results are summarized in the figure. Change in echocardiographic findings. Conclusions There is a strong association between echocardiographic progression of ARVC phenotype and the presence of a pathogenic mutation. Such mutations should be searched in all patients with an ARVC phenotype, and mutation positive individuals should be followed-up in shorter intervals.