Prognostic impact of familial screening in dilated cardiomyopathy.
OBJECTIVE
Familial screening of patients with dilated cardiomyopathy (DCM) allows an early diagnosis of the disease in family members. It is unclear if familial forms (FDC) have a different long-term outcome compared with sporadic DCM. Our aim was to compare the long-term prognosis of FDC and sporadic forms in order to assess the role of familial screening.


RESULTS
Between 1988 and 2007, 637 DCM patients were consecutively enrolled. Of these, 130 patients (20.4%) had FDC, including 82 (12.9%) probands and 48 (7.5%) non-proband FDC patients (NP-FDC), identified by family screening. We compared the 48 NP-FDC patients with a sample of 96 patients with sporadic DCM, who were randomly matched by year of enrolment in a 2:1 ratio. At enrolment the NP-FDC patients were younger (40 +/- 16 vs. 48 +/- 13 years, P = 0.002), less symptomatic [New York Heart Association, (NYHA) III-IV: 8 vs. 28%, P = 0.006], had higher left ventricular ejection fraction (35 +/- 10 vs. 30 +/- 9%, P = 0.005) and were less intensively treated with evidence-based drugs than the sporadic DCM patients. Survival free from heart transplant at 2, 5 and 10 years was 93, 91 and 82%, respectively, in NP-FDC patients compared with 86, 76 and 62% in sporadic forms (P = 0.04). After stratification for NYHA classes, no difference in survival was observed between sporadic and NP-FDC patients.


CONCLUSIONS
Our study demonstrates that family screening can effectively identify DCM patients at an earlier stage of disease and can improve survival. The possibility of changing the prognosis of DCM needs to be verified in patients intensively treated with tailored medical treatment. Family screening should be recommended for all DCM patients.
Moretti
Michele
M
Cardiovascular Department, Azienda Ospedaliera Ospedali Riuniti and University of Trieste, Trieste, Italy. michele.moretti@gmail.com
Merlo
Marco
M
Barbati
Giulia
G
Di Lenarda
Andrea
A
Brun
Francesca
F
Pinamonti
Bruno
B
Gregori
Dario
D
Mestroni
Luisa
L
Sinagra
Gianfranco
G
D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D042241:Early Diagnosis; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D015995:Prevalence; D011379:Prognosis; D012189:Retrospective Studies; D015996:Survival Rate / Q000639:trends