期刊
CIRCULATION
卷 144, 期 20, 页码 1600-1611出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1161/CIRCULATIONAHA.121.053521
关键词
arrhythmogenic right ventricular dysplasia; death; sudden; cardiac; FLNC protein; human; heart failure; outcome studies; prognosis
资金
- National Institutes of Health (NIH) [R01HL69071, R01HL116906, R01HL147064]
- America Heart Association (AHA) [17GRNT33670495]
- NIH [1K23HI067915, 2UM1HG006542, R01HL109209, K08 HL143185, U01HG007708, 1U24EB023674]
- CRTrieste Foundation
- Cassa di Risparmio of Gorizia Foundation
- Fondation Leducq [14-CVD03]
- NIH/National Center for Advancing Translational Sciences Colorado Clinical and Translational Science Awards [UL1 TR002535, UL1 TR001082]
- Netherlands Cardiovascular Research Initiative
- Dutch Heart Foundation [CVON2015-12/2018-30 eDETECT/PREDICT2, 2015T058]
- UMC Utrecht Fellowship Clinical Research Talent
- Leonie-Wild Foundation
- Francis P. Chiaramonte Private Foundation
- Leyla Erkan Family Fund for ARVD Research
- Dr. Satish, Rupal, and Robin Shah ARVD Fund at Johns Hopkins
- Bogle Foundation
- Healing Hearts Foundation
- Campanella family
- Patrick J. Harrison Family
- Peter French Memorial Foundation
- Wilmerding Endowments
- John Taylor Babbitt Foundation
- Sarnoff Cardiovascular Research Foundation
- Victor Chang Cardiac Research Institute
- National Health and Medical Research Council
- Estate of the Late RT Hall
- O'Hare Family Foundation
This study found that arrhythmogenic cardiomyopathy caused by FLNCtv is phenotypically heterogeneous and characterized by a high risk of life-threatening arrhythmias, which does not seem to be associated with the severity of left ventricular dysfunction.
Background: Filamin C truncating variants (FLNCtv) cause a form of arrhythmogenic cardiomyopathy: the mode of presentation, natural history, and risk stratification of FLNCtv remain incompletely explored. We aimed to develop a risk profile for refractory heart failure and life-threatening arrhythmias in a multicenter cohort of FLNCtv carriers. Methods:FLNCtv carriers were identified from 10 tertiary care centers for genetic cardiomyopathies. Clinical and outcome data were compiled. Composite outcomes were all-cause mortality/heart transplantation/left ventricle assist device (D/HT/LVAD), nonarrhythmic death/HT/LVAD, and sudden cardiac death/major ventricular arrhythmias. Previously established cohorts of 46 patients with LMNA and 60 with DSP-related arrhythmogenic cardiomyopathies were used for prognostic comparison. Results: Eighty-five patients carrying FLNCtv were included (4215 years, 53% men, 45% probands). Phenotypes were heterogeneous at presentation: 49% dilated cardiomyopathy, 25% arrhythmogenic left dominant cardiomyopathy, 3% arrhythmogenic right ventricular cardiomyopathy. Left ventricular ejection fraction was <50% in 64% of carriers and 34% had right ventricular fractional area changes (RVFAC=(right ventricular end-diastolic area - right ventricular end-systolic area)/right ventricular end-diastolic area) <35%. During follow-up (median time 61 months), 19 (22%) carriers experienced D/HT/LVAD, 13 (15%) experienced nonarrhythmic death/HT/LVAD, and 23 (27%) experienced sudden cardiac death/major ventricular arrhythmias. The sudden cardiac death/major ventricular arrhythmias incidence of FLNCtv carriers did not significantly differ from LMNA carriers and DSP carriers. In FLNCtv carriers, left ventricular ejection fraction was associated with the risk of D/HT/LVAD and nonarrhythmic death/HT/LVAD. Conclusions: Among patients referred to tertiary referral centers, FLNCtv arrhythmogenic cardiomyopathy is phenotypically heterogeneous and characterized by a high risk of life-threatening arrhythmias, which does not seem to be associated with the severity of left ventricular dysfunction.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据