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Risk stratification and subclinical phenotyping of dilated and/or arrhythmogenic cardiomyopathy mutation-positive

R W Roudijk1,2, K Taha1,2, M Bourfiss2

  • 1Netherlands Heart Institute, Utrecht, The Netherlands.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|February 2, 2021
PubMed

Insights

Early detection of inherited cardiomyopathies like dilated and arrhythmogenic cardiomyopathy in relatives is crucial. The CVON-eDETECT study aims to personalize screening using integrated data for better risk stratification and outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Preventive Medicine

Background:

  • Dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy (ACM) pose risks for sudden cardiac death and heart failure.
  • Early detection in relatives of affected individuals is vital but optimal screening strategies remain unclear.
  • Incomplete and age-dependent penetrance complicates disease course prediction.

Purpose of the Study:

  • To identify optimal screening intervals and diagnostic techniques for early detection of subclinical DCM and ACM in relatives.
  • To develop a personalized risk stratification approach for heart failure and sudden cardiac death.
  • To integrate diverse data sources for improved cascade screening strategies.

Main Methods:

  • Review of non-invasive diagnostic techniques including biomarkers, ECG, echocardiographic deformation imaging, and cardiac MRI.
  • Integration of electronic health records, diagnostic data, tissue, and plasma samples within a multidisciplinary biobank (CVON-eDETECT consortium).
  • Focus on personalized risk stratification for tailored screening and treatment.

Main Results:

  • Promising non-invasive techniques exist but require optimization and integration.
  • A personalized approach to cascade screening intensity and timing is likely necessary.
  • The CVON-eDETECT consortium aims to create a comprehensive data environment for risk stratification.

Conclusions:

  • Optimizing non-invasive diagnostic techniques is key for detecting subclinical cardiomyopathy in relatives.
  • Personalized risk stratification can guide screening, treatment, and device implantation timing.
  • The CVON-eDETECT initiative seeks to improve outcomes for families with inherited cardiomyopathies.

Keywords:
Arrhythmogenic cardiomyopathyCascade screeningDilated cardiomyopathyPathogenic variantsPhospholambanPlakophilin‑2

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