PMID- 31504415
OWN - NLM
STAT- MEDLINE
DCOM- 20210514
LR  - 20210514
IS  - 1522-9645 (Electronic)
IS  - 0195-668X (Print)
IS  - 0195-668X (Linking)
VI  - 41
IP  - 14
DP  - 2020 Apr 7
TI  - High penetrance and similar disease progression in probands and in family members 
      with arrhythmogenic cardiomyopathy.
PG  - 1401-1410
LID - 10.1093/eurheartj/ehz570 [doi]
AB  - 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.
CI  - (c) The Author(s) 2019. Published by Oxford University Press on behalf of the 
      European Society of Cardiology.
FAU - Chivulescu, Monica
AU  - Chivulescu M
AD  - Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, PO Box 
      1171 Blindern, 0318 Oslo, Norway.
AD  - Department of Cardiology, Center for Cardiological Innovation, Oslo University 
      Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.
FAU - Lie, Oyvind H
AU  - Lie OH
AD  - Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, PO Box 
      1171 Blindern, 0318 Oslo, Norway.
AD  - Department of Cardiology, Center for Cardiological Innovation, Oslo University 
      Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.
FAU - Popescu, Bogdan A
AU  - Popescu BA
AD  - Institute for Cardiovascular Diseases C.C. Iliescu, 258, Fundeni street, District 
      2, 022322 Bucharest Romania.
AD  - Carol Davila University of Medicine and Pharmacy, 37, Dionisie Lupu street, 
      District 2, 020021 Bucharest, Romania.
FAU - Skulstad, Helge
AU  - Skulstad H
AD  - Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, PO Box 
      1171 Blindern, 0318 Oslo, Norway.
AD  - Department of Cardiology, Center for Cardiological Innovation, Oslo University 
      Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.
FAU - Edvardsen, Thor
AU  - Edvardsen T
AD  - Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, PO Box 
      1171 Blindern, 0318 Oslo, Norway.
AD  - Department of Cardiology, Center for Cardiological Innovation, Oslo University 
      Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.
FAU - Jurcut, Ruxandra O
AU  - Jurcut RO
AD  - Institute for Cardiovascular Diseases C.C. Iliescu, 258, Fundeni street, District 
      2, 022322 Bucharest Romania.
AD  - Carol Davila University of Medicine and Pharmacy, 37, Dionisie Lupu street, 
      District 2, 020021 Bucharest, Romania.
FAU - Haugaa, Kristina H
AU  - Haugaa KH
AD  - Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, PO Box 
      1171 Blindern, 0318 Oslo, Norway.
AD  - Department of Cardiology, Center for Cardiological Innovation, Oslo University 
      Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur Heart J
JT  - European heart journal
JID - 8006263
SB  - IM
CIN - Eur Heart J. 2020 Apr 7;41(14):1411-1413. PMID: 31620781
MH  - Adult
MH  - *Arrhythmogenic Right Ventricular Dysplasia/genetics
MH  - Disease Progression
MH  - Family
MH  - Female
MH  - Humans
MH  - Longitudinal Studies
MH  - Male
MH  - Middle Aged
MH  - Penetrance
MH  - Young Adult
PMC - PMC7138527
OTO - NOTNLM
OT  - Arrhythmic risk
OT  - Arrhythmogenic cardiomyopathy
OT  - Penetrance
OT  - Structural progression
EDAT- 2019/09/11 06:00
MHDA- 2021/05/15 06:00
PMCR- 2019/09/01
CRDT- 2019/09/11 06:00
PHST- 2019/02/13 00:00 [received]
PHST- 2019/05/24 00:00 [revised]
PHST- 2019/07/26 00:00 [accepted]
PHST- 2019/09/11 06:00 [pubmed]
PHST- 2021/05/15 06:00 [medline]
PHST- 2019/09/11 06:00 [entrez]
PHST- 2019/09/01 00:00 [pmc-release]
AID - 5552548 [pii]
AID - ehz570 [pii]
AID - 10.1093/eurheartj/ehz570 [doi]
PST - ppublish
SO  - Eur Heart J. 2020 Apr 7;41(14):1401-1410. doi: 10.1093/eurheartj/ehz570.