Related Experiment Video
Updated: Jun 12, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Prognostic impact of familial screening in dilated cardiomyopathy
Michele Moretti1, Marco Merlo, Giulia Barbati
1Cardiovascular Department, Azienda Ospedaliera Ospedali Riuniti and University of Trieste, Trieste, Italy. michele.moretti@gmail.com
Insights
Familial screening for dilated cardiomyopathy (DCM) identifies patients earlier, improving survival. This proactive approach in identifying familial DCM (FDC) cases offers a better long-term prognosis compared to sporadic forms.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Dilated cardiomyopathy (DCM) is a significant cause of heart failure.
- Familial screening aids early diagnosis in relatives of affected individuals.
- The long-term prognosis of familial DCM (FDC) versus sporadic DCM is not well-defined.
Purpose of the Study:
- To compare the long-term prognosis of FDC and sporadic DCM.
- To evaluate the effectiveness of familial screening in DCM management.
Main Methods:
- A cohort of 637 DCM patients enrolled between 1988 and 2007.
- Comparison of 48 non-proband FDC patients with 96 matched sporadic DCM patients.
- Survival analysis free from heart transplant at 2, 5, and 10 years.
Main Results:
- FDC patients identified via screening were younger, less symptomatic, and had better ejection fraction at enrollment.
- Survival free from heart transplant was significantly better in NP-FDC patients (82% at 10 years) compared to sporadic DCM (62% at 10 years).
- No survival difference was observed after stratification by New York Heart Association (NYHA) class.
Conclusions:
- Family screening effectively identifies DCM patients at an earlier disease stage, potentially improving survival.
- The improved prognosis suggests a benefit of early detection through familial screening.
- Family screening is recommended for all DCM patients to facilitate early diagnosis and management.
Aims:
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.
Methods And 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.
Conclusion:
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.
Related Concept Videos
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy V: Interprofessional Care
Mitral Stenosis II: Clinical features and Diagnostic Tests
Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT
