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

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@article{508a609bb0c84adf83d089d7e7f0c4fc,
title = "Screening relatives in arrhythmogenic right ventricular cardiomyopathy: yield of imaging and electrical investigations",
abstract = "AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease and presymptomatic screening of relatives is recommended. In 2010, the Task Force Criteria (TFC2010) introduced specific diagnostic imaging parameters. The aim of the study was to evaluate the diagnostic yield of family screening and the value of different diagnostic modalities.METHODS AND RESULTS: Family evaluation, including cardiac magnetic resonance (CMR), is routinely offered to ARVC relatives at our institution. We retrospectively registered baseline characteristics, symptomatology, and results of non-invasive examinations from 2010 to 2016 and assessed the findings according to TFC2010. A total of 286 relatives (150 females; age 12-76 years; 251 first-degree) were included. A total of 103 (36{\%}) individuals reported cardiovascular symptoms. The non-invasive workup showed that 101 (35{\%}) relatives had ≥1 positive parameter on signal-averaged electrocardiogram (ECG), 40 (14{\%}) had abnormal findings on Holter monitoring, 36 (13{\%}) fulfilled an ECG criterion, six (2{\%}) fulfilled CMR criteria, and echocardiographic abnormalities was seen in one (0.3{\%}) relative. In total, 21 (7{\%} overall; 13{\%} among gene-positive subgroup) relatives were diagnosed with ARVC and 78 (27{\%} overall; 49{\%} among gene-positive subgroup) with borderline ARVC based on the combined non-invasive evaluations. Family history and electrical investigations alone diagnosed 20 out of 21 (95{\%}) ARVC cases and 73 out of 78 (94{\%}) borderline cases.CONCLUSION: Consecutive evaluation of ARVC relatives diagnosed 7{\%} with definite and 27{\%} with borderline ARVC according to the TFC2010. Screening relatives for electrical abnormalities with 12 lead ECG, signal-averaged ECG, and Holter monitoring was more sensitive than imaging modalities.",
keywords = "ARVC, ECG, echocardiography, family screening, magnetic resonance imaging",
author = "Rebecca Jurlander and Mills, {Helen L} and Espersen, {Kiri I} and Raja, {Anna Axelsson} and Svendsen, {Jesper Hastrup} and Juliane Theilade and Kasper Iversen and Niels Vejlstrup and Henning Bundgaard and Christensen, {Alex H{\o}rby}",
note = "Published on behalf of the European Society of Cardiology. All rights reserved. {\circledC} The Author(s) 2019. For permissions, please email: journals.permissions@oup.com.",
year = "2020",
month = "2",
day = "1",
doi = "10.1093/ehjci/jez204",
language = "English",
volume = "21",
pages = "175--182",
journal = "European Heart Journal Cardiovascular Imaging",
issn = "1525-2167",
publisher = "Oxford University Press",
number = "2",

}

RIS

TY - JOUR

T1 - Screening relatives in arrhythmogenic right ventricular cardiomyopathy

T2 - yield of imaging and electrical investigations

AU - Jurlander, Rebecca

AU - Mills, Helen L

AU - Espersen, Kiri I

AU - Raja, Anna Axelsson

AU - Svendsen, Jesper Hastrup

AU - Theilade, Juliane

AU - Iversen, Kasper

AU - Vejlstrup, Niels

AU - Bundgaard, Henning

AU - Christensen, Alex Hørby

N1 - Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2019. For permissions, please email: journals.permissions@oup.com.

PY - 2020/2/1

Y1 - 2020/2/1

N2 - AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease and presymptomatic screening of relatives is recommended. In 2010, the Task Force Criteria (TFC2010) introduced specific diagnostic imaging parameters. The aim of the study was to evaluate the diagnostic yield of family screening and the value of different diagnostic modalities.METHODS AND RESULTS: Family evaluation, including cardiac magnetic resonance (CMR), is routinely offered to ARVC relatives at our institution. We retrospectively registered baseline characteristics, symptomatology, and results of non-invasive examinations from 2010 to 2016 and assessed the findings according to TFC2010. A total of 286 relatives (150 females; age 12-76 years; 251 first-degree) were included. A total of 103 (36%) individuals reported cardiovascular symptoms. The non-invasive workup showed that 101 (35%) relatives had ≥1 positive parameter on signal-averaged electrocardiogram (ECG), 40 (14%) had abnormal findings on Holter monitoring, 36 (13%) fulfilled an ECG criterion, six (2%) fulfilled CMR criteria, and echocardiographic abnormalities was seen in one (0.3%) relative. In total, 21 (7% overall; 13% among gene-positive subgroup) relatives were diagnosed with ARVC and 78 (27% overall; 49% among gene-positive subgroup) with borderline ARVC based on the combined non-invasive evaluations. Family history and electrical investigations alone diagnosed 20 out of 21 (95%) ARVC cases and 73 out of 78 (94%) borderline cases.CONCLUSION: Consecutive evaluation of ARVC relatives diagnosed 7% with definite and 27% with borderline ARVC according to the TFC2010. Screening relatives for electrical abnormalities with 12 lead ECG, signal-averaged ECG, and Holter monitoring was more sensitive than imaging modalities.

AB - AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease and presymptomatic screening of relatives is recommended. In 2010, the Task Force Criteria (TFC2010) introduced specific diagnostic imaging parameters. The aim of the study was to evaluate the diagnostic yield of family screening and the value of different diagnostic modalities.METHODS AND RESULTS: Family evaluation, including cardiac magnetic resonance (CMR), is routinely offered to ARVC relatives at our institution. We retrospectively registered baseline characteristics, symptomatology, and results of non-invasive examinations from 2010 to 2016 and assessed the findings according to TFC2010. A total of 286 relatives (150 females; age 12-76 years; 251 first-degree) were included. A total of 103 (36%) individuals reported cardiovascular symptoms. The non-invasive workup showed that 101 (35%) relatives had ≥1 positive parameter on signal-averaged electrocardiogram (ECG), 40 (14%) had abnormal findings on Holter monitoring, 36 (13%) fulfilled an ECG criterion, six (2%) fulfilled CMR criteria, and echocardiographic abnormalities was seen in one (0.3%) relative. In total, 21 (7% overall; 13% among gene-positive subgroup) relatives were diagnosed with ARVC and 78 (27% overall; 49% among gene-positive subgroup) with borderline ARVC based on the combined non-invasive evaluations. Family history and electrical investigations alone diagnosed 20 out of 21 (95%) ARVC cases and 73 out of 78 (94%) borderline cases.CONCLUSION: Consecutive evaluation of ARVC relatives diagnosed 7% with definite and 27% with borderline ARVC according to the TFC2010. Screening relatives for electrical abnormalities with 12 lead ECG, signal-averaged ECG, and Holter monitoring was more sensitive than imaging modalities.

KW - ARVC

KW - ECG

KW - echocardiography

KW - family screening

KW - magnetic resonance imaging

U2 - 10.1093/ehjci/jez204

DO - 10.1093/ehjci/jez204

M3 - Journal article

VL - 21

SP - 175

EP - 182

JO - European Heart Journal Cardiovascular Imaging

JF - European Heart Journal Cardiovascular Imaging

SN - 1525-2167

IS - 2

ER -

ID: 58014211