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June 12, 2026European Journal of Preventive Cardiology

Of 71 relatives screened, 4 (5.6%) were diagnosed with cardiomyopathy and 10 (14.1%) required ongoing surveillance.

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Why the study?

Does family screening identify cardiomyopathy in relatives of adolescent probands with abnormal ECGs but no clinical diagnosis?

Population

71 relatives of 16 adolescent probands with abnormal ECGs suggestive of cardiomyopathy but without a…

Design

Cohort

Follow-up

59 ± 23 months

Authors

MAM AbelaJDJ DebattistaJSJ Scerri

Discussion

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Overview

Low yield cautions against routine family screening from adolescent ECG abnormalities alone; leaves open optimal genetic testing strategies in relatives.

Key Points

  • This study aims to assess the efficacy of family screening for cardiomyopathy in adolescents with abnormal ECG findings but without a clinical diagnosis.
  • Part of the nationwide BEAT-IT screening program involving adolescents with abnormal ECGs.
  • Participants underwent echocardiography, exercise testing, Holter monitoring, and cardiac MRI.
  • Family members were screened with ECGs and echocardiograms; cascade testing was performed for relatives with pathogenic variants.
  • Out of 2672 adolescents screened, 16 (0.6%) had abnormal ECGs without a cardiomyopathy diagnosis.
  • Three adolescents (18.8%) had pathogenic variants in cardiomyopathy genes.
  • Overall diagnostic yield increased to 5.6% after follow-up, with genetic testing enabling personalized surveillance in 8.4% of screened relatives.

Structured PICO

Does family screening identify cardiomyopathy in relatives of adolescent probands with abnormal ECGs but no clinical diagnosis?

P
Population
71 relatives of 16 adolescent probands (identified from 2,672 screened adolescents) with abnormal ECGs suggestive of cardiomyopathy but without a clinical diagnosis (phenotype negative).
I
Intervention
Family screening including clinical evaluation (ECG, echocardiography) and cascade genetic testing for likely or definite pathogenic variants.
O
Outcome
Diagnostic yield of family screening (diagnosis of cardiomyopathy or need for ongoing surveillance).

Family screening in relatives of adolescents with abnormal ECGs but no clinical cardiomyopathy diagnosis yields a 5.6% diagnosis rate, suggesting potential benefit in expanding current screening criteria.

Limitations

  • larger studies are needed to validate these findings

Cite This Study

Abela et al. (2026) studied this question.

synapsesocial.com/papers/6a2bd11d6550ea4541ffe90ahttps://doi.org/10.1093/eurjpc/zwag249.385
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genomic Architecture and Cascade Screening Gaps in Hypertrophic Cardiomyopathy: A Real-World Analysis2026
  2. 2Clinical care of family members of patients with dilated cardiomyopathy2025 · 8 citations
  3. 31-030 Mainstream genetic testing in an ICC specialist centre: experience under national testing criteria2025
  4. 4Yield of Family Screening in Arrhythmogenic Right Ventricular Cardiomyopathy Without a Validated Genetic Cause2026
  5. 5Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort2025 · 2 citations