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Screening relatives in arrhythmogenic right ventricular cardiomyopathy: yield of imaging and electrical

Rebecca Jurlander1, Helen L Mills1, Kiri I Espersen1

  • 1The Capital Regions Unit for Inherited Cardiac Diseases, Department of Cardiology, The Heart Center, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, DK-2100 Copenhagen OE, Denmark.

European Heart Journal. Cardiovascular Imaging
|August 23, 2019
PubMed

Insights

Presymptomatic screening of relatives with arrhythmogenic right ventricular cardiomyopathy (ARVC) identified 7% with definite and 27% with borderline ARVC. Electrical investigations, including ECG and Holter monitoring, proved more sensitive than imaging for diagnosing ARVC in families.

Area of Science:

  • Cardiology
  • Genetics
  • Inherited cardiovascular diseases

Background:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac condition requiring family screening.
  • The Task Force Criteria (TFC2010) established diagnostic imaging parameters for ARVC.
  • Family screening is crucial for early detection and management of ARVC.

Purpose of the Study:

  • To evaluate the diagnostic yield of family screening for ARVC.
  • To assess the effectiveness of different diagnostic modalities in identifying ARVC in relatives.
  • To determine the value of cardiac magnetic resonance (CMR) and other non-invasive tests in ARVC family evaluations.

Main Methods:

  • Retrospective analysis of 286 ARVC relatives (2010-2016) undergoing family evaluation.
  • Inclusion of baseline characteristics, symptoms, and non-invasive test results (ECG, signal-averaged ECG, Holter, CMR, echocardiography).
  • Assessment of findings based on TFC2010 criteria.

Main Results:

  • 36% of relatives reported cardiovascular symptoms.
  • Electrical investigations revealed abnormalities in 35% (signal-averaged ECG) and 14% (Holter).
  • 7% were diagnosed with definite ARVC and 27% with borderline ARVC; electrical investigations diagnosed 95% of definite and 94% of borderline cases.

Conclusions:

  • Consecutive evaluation diagnosed 7% definite and 27% borderline ARVC in relatives per TFC2010.
  • Screening for electrical abnormalities (ECG, Holter) demonstrated higher sensitivity than imaging modalities for ARVC detection.
  • Family history and electrical testing are highly effective in diagnosing ARVC and borderline ARVC in relatives.
Abstract

Keywords:
ARVCECGechocardiographyfamily screeningmagnetic resonance imaging

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