Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy

被引：133

作者：

Miles, Chris ^{[1
,2
]}

Finocchiaro, Gherardo ^{[1
,2
]}

Papadakis, Michael ^{[1
,2
]}

Gray, Belinda ^{[1
,2
]}

Westaby, Joseph ^{[1
,2
]}

Ensam, Bode ^{[1
,2
]}

Basu, Joyee ^{[1
,2
]}

Parry-Williams, Gemma ^{[1
,2
]}

Papatheodorou, Efstathios ^{[1
,2
]}

Paterson, Casey ^{[1
,2
]}

Malhotra, Aneil ^{[1
,2
]}

Robertus, Jan Lukas ^{[3
]}

Ware, James S. ^{[4
,5
,6
]}

Cook, Stuart A. ^{[4
,5
,6
]}

Asimaki, Angeliki ^{[1
,2
]}

Witney, Adam ^{[7
]}

Ster, Irina Chis ^{[7
]}

Tome, Maite ^{[1
,2
]}

Sharma, Sanjay ^{[1
,2
]}

Behr, Elijah R. ^{[1
,2
]}

Sheppard, Mary N. ^{[1
,2
]}

机构：

[1] St Georges Univ Hosp NHS Fdn Trust, Cardiol Clin Acad Grp, London SW17 0RE, England

[2] St Georges Univ London, Mol & Clin Sci Inst, London SW17 0RE, England

[3] Royal Brompton & Harefield NHS Fdn Trust, Dept Pathol, Imperial Coll London, London, England

[4] Imperial Coll London, Natl Heart & Lung Inst, London, England

[5] Imperial Coll London, MRC London Inst Med Sci, London, England

[6] Royal Brompton & Harefield NHS Fdn Trust, Harefield, Middx, England

[7] St Georges Univ London, Inst Infect & Immun, London, England

来源：

CIRCULATION | 2019年 / 139卷 / 15期

基金：

英国医学研究理事会;

关键词：

arrhythmogenic right ventricular dysplasia; cardiomyopathies; death; sudden; cardiac; AMERICAN-COLLEGE; ASSOCIATION; DYSPLASIA; SPORTS; MANIFESTATIONS; MUTATIONS; STATEMENT; SUBSTRATE; DIAGNOSIS; MISSENSE;

D O I：

10.1161/CIRCULATIONAHA.118.037230

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disorder characterized by myocardial fibrofatty replacement and an increased risk of sudden cardiac death (SCD). Originally described as a right ventricular disease, ACM is increasingly recognized as a biventricular entity. We evaluated pathological, genetic, and clinical associations in a large SCD cohort. METHODS: We investigated 5205 consecutive cases of SCD referred to a national cardiac pathology center between 1994 and 2018. Hearts and tissue blocks were examined by expert cardiac pathologists. After comprehensive histological evaluation, 202 cases (4%) were diagnosed with ACM. Of these, 15 (7%) were diagnosed antemortem with dilated cardiomyopathy (n=8) or ACM (n=7). Previous symptoms, medical history, circumstances of death, and participation in competitive sport were recorded. Postmortem genetic testing was undertaken in 24 of 202 (12%). Rare genetic variants were classified according to American College of Medical Genetics and Genomics criteria. RESULTS: Of 202 ACM decedents (35.4 +/- 13.2 years; 82% male), no previous cardiac symptoms were reported in 157 (78%). Forty-one decedents (41/202; 20%) had been participants in competitive sport. The adjusted odds of dying during physical exertion were higher in men than in women (odds ratio, 4.58; 95% CI, 1.54-13.68; P=0.006) and in competitive athletes in comparison with nonathletes (odds ratio, 16.62; 95% CI, 5.39-51.24; P<0.001). None of the decedents with an antemortem diagnosis of dilated cardiomyopathy fulfilled definite 2010 Task Force criteria. The macroscopic appearance of the heart was normal in 40 of 202 (20%) cases. There was left ventricular histopathologic involvement in 176 of 202 (87%). Isolated right ventricular disease was seen in 13%, isolated left ventricular disease in 17%, and biventricular involvement in 70%. Among whole hearts, the most common areas of fibrofatty infiltration were the left ventricular posterobasal (68%) and anterolateral walls (58%). Postmortem genetic testing yielded pathogenic variants in ACM-related genes in 6 of 24 (25%) decedents. CONCLUSIONS: SCD attributable to ACM affects men predominantly, most commonly occurring during exertion in athletic individuals in the absence of previous reported cardiac symptoms. Left ventricular involvement is observed in the vast majority of SCD cases diagnosed with ACM at autopsy. Current Task Force criteria may fail to diagnose biventricular ACM before death.

引用

页码：1786 / 1797

页数：12

共 40 条

[31] Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy [J].