Abstract 4004: Prognostic Value of a Systematic Familial Screening in Idiopathic Dilated Cardiomyopathy: The Experience of Trieste Heart Muscle Disease
Background. Familial screening of idiopathic dilate cardiomyopathy (IDC) patients allows an early diagnosis of the disease in family members. It is unclear if familial dilated cardiomyopathy (FDC) has a different long-term outcome with respect to the sporadic IDC.
Aim. The aim of this study was to compare long-term prognosis in FDC with respect to sporadic forms in order to assess the role of familial screening in IDC patients (pts).
Methods. We analysed 637 pts with IDC consecutively enrolled in the Trieste Heart Muscle Disease Registry from 1988 to 2007. We compared non-proband FDC patients (NP-FDC) with a sample of sporadic forms, randomly matched by year of enrolment (2:1), the matching procedure was done in order to increase the efficiency of comparisons.
Results. FDC were 130 (20.4%), 82 (12.9%) were probands. The familial screening effectively diagnosed IDC in 48 (7.5%) non-proband FDC patients. With respect to the random sample of 96 sporadic patients, NP-FDC pts were younger (40±16 vs 47±13 years, p=0.002), less severely symptomatic (NYHA class III–IV 8% vs 28%, p=0.006), had lower end diastolic diameter (62±12 vs 67±9 mm, p=0.006), higher left ventricular ejection fraction (35±10 vs 30±9, p=0.005), lower prevalence of LBBB (10% vs 37%, p=0.001), and were less frequently treated (ACE-inhibitors 75% vs 96%, p<0.001; beta-blockers 65% vs 79%; p=0.06; diuretics 37% vs 68% p=0.001). The survival free from heart transplant at 2, 5 and 10 years of follow-up was respectively 93, 91 and 82% in NP-FDC versus 86, 76 and 62% of sporadic forms (p=0.04). No difference was observed in survival free from sudden death or life threatening arrhythmias.
Conclusions. FDC represented 20% of our population. Familial screening of IDC patients allowed early recognition of 48 (7.5%) NP-FDC which had less advanced disease at presentation. Early recognition of IDC led to better long-term outcome. Our data emphasise the importance of familial screening in all IDC patients.