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High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy

AIMS: We aimed to assess structural progression in arrhythmogenic cardiomyopathy (AC) patients and mutation-positive family members and its impact on arrhythmic outcome in a longitudinal cohort study. METHODS AND RESULTS: Structural progression was defined as the development of new Task Force imagin...

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Autores principales: Chivulescu, Monica, Lie, Øyvind H, Popescu, Bogdan A, Skulstad, Helge, Edvardsen, Thor, Jurcut, Ruxandra O, Haugaa, Kristina H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138527/
https://www.ncbi.nlm.nih.gov/pubmed/31504415
http://dx.doi.org/10.1093/eurheartj/ehz570
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author Chivulescu, Monica
Lie, Øyvind H
Popescu, Bogdan A
Skulstad, Helge
Edvardsen, Thor
Jurcut, Ruxandra O
Haugaa, Kristina H
author_facet Chivulescu, Monica
Lie, Øyvind H
Popescu, Bogdan A
Skulstad, Helge
Edvardsen, Thor
Jurcut, Ruxandra O
Haugaa, Kristina H
author_sort Chivulescu, Monica
collection PubMed
description AIMS: We aimed to assess structural progression in arrhythmogenic cardiomyopathy (AC) patients and mutation-positive family members and its impact on arrhythmic outcome in a longitudinal cohort study. METHODS AND RESULTS: Structural progression was defined as the development of new Task Force imaging criteria from inclusion to follow-up and progression rates as annual changes in imaging parameters. We included 144 AC patients and family members (48% female, 47% probands, 40 ± 16 years old). At genetic diagnosis and inclusion, 58% of family members had penetrant AC disease. During 7.0 [inter-quartile range (IQR) 4.5–9.4] years of follow-up, 47% of family members without AC at inclusion developed AC criteria, resulting in a yearly new AC penetrance of 8%. Probands and family members had a similar progression rate of right ventricular outflow tract diameter (0.5 mm/year vs. 0.6 mm/year, P = 0.28) by mixed model analysis of 598 echocardiographic examinations. Right ventricular fractional area change progression rate was even higher in family members (−0.6%/year vs. −0.8%/year, P < 0.01). Among 86 patients without overt structural disease or arrhythmic history at inclusion, a first severe ventricular arrhythmic event occurred in 8 (9%), of which 7 (88%) had concomitant structural progression. Structural progression was associated with higher incidence of severe ventricular arrhythmic events adjusted for age, sex, and proband status (HR 21.24, 95% CI 2.47–182.81, P < 0.01). CONCLUSION: More than half of family members had AC criteria at genetic diagnosis and yearly AC penetrance was 8%. Structural progression was similar in probands and family members and was associated with higher incidence of severe ventricular arrhythmic events.
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spelling pubmed-71385272020-04-10 High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy Chivulescu, Monica Lie, Øyvind H Popescu, Bogdan A Skulstad, Helge Edvardsen, Thor Jurcut, Ruxandra O Haugaa, Kristina H Eur Heart J Fasttrack Clinical Research AIMS: We aimed to assess structural progression in arrhythmogenic cardiomyopathy (AC) patients and mutation-positive family members and its impact on arrhythmic outcome in a longitudinal cohort study. METHODS AND RESULTS: Structural progression was defined as the development of new Task Force imaging criteria from inclusion to follow-up and progression rates as annual changes in imaging parameters. We included 144 AC patients and family members (48% female, 47% probands, 40 ± 16 years old). At genetic diagnosis and inclusion, 58% of family members had penetrant AC disease. During 7.0 [inter-quartile range (IQR) 4.5–9.4] years of follow-up, 47% of family members without AC at inclusion developed AC criteria, resulting in a yearly new AC penetrance of 8%. Probands and family members had a similar progression rate of right ventricular outflow tract diameter (0.5 mm/year vs. 0.6 mm/year, P = 0.28) by mixed model analysis of 598 echocardiographic examinations. Right ventricular fractional area change progression rate was even higher in family members (−0.6%/year vs. −0.8%/year, P < 0.01). Among 86 patients without overt structural disease or arrhythmic history at inclusion, a first severe ventricular arrhythmic event occurred in 8 (9%), of which 7 (88%) had concomitant structural progression. Structural progression was associated with higher incidence of severe ventricular arrhythmic events adjusted for age, sex, and proband status (HR 21.24, 95% CI 2.47–182.81, P < 0.01). CONCLUSION: More than half of family members had AC criteria at genetic diagnosis and yearly AC penetrance was 8%. Structural progression was similar in probands and family members and was associated with higher incidence of severe ventricular arrhythmic events. Oxford University Press 2020-04-07 2019-09-01 /pmc/articles/PMC7138527/ /pubmed/31504415 http://dx.doi.org/10.1093/eurheartj/ehz570 Text en © The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Cardiology. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Fasttrack Clinical Research
Chivulescu, Monica
Lie, Øyvind H
Popescu, Bogdan A
Skulstad, Helge
Edvardsen, Thor
Jurcut, Ruxandra O
Haugaa, Kristina H
High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy
title High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy
title_full High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy
title_fullStr High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy
title_full_unstemmed High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy
title_short High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy
title_sort high penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy
topic Fasttrack Clinical Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138527/
https://www.ncbi.nlm.nih.gov/pubmed/31504415
http://dx.doi.org/10.1093/eurheartj/ehz570
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