Imperial College London
Alternate

ProfessorStuartCook

Faculty of Medicine, Institute of Clinical Sciences

Visiting Professor
 
 
 
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Contact

 

+44 (0)20 3313 1346stuart.cook

 
 
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Location

 

RF 16Sydney StreetRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Miles:2019:10.1161/CIRCULATIONAHA.118.037230,
author = {Miles, C and Finocchiaro, G and Papadakis, M and Gray, B and Westaby, J and Ensam, B and Basu, J and Parry-Williams, G and Papatheodorou, E and Paterson, C and Malhotra, A and Robertus, JL and Ware, JS and Cook, SA and Asimaki, A and Witney, A and Chis, Ster I and Tome, M and Sharma, S and Behr, ER and Sheppard, MN},
doi = {10.1161/CIRCULATIONAHA.118.037230},
journal = {Circulation},
pages = {1786--1797},
title = {Sudden death and left ventricular involvement in arrhythmogenic cardiomyopathy},
url = {http://dx.doi.org/10.1161/CIRCULATIONAHA.118.037230},
volume = {139},
year = {2019}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disorder characterized by myocardial fibro-fatty replacement and an increased risk of sudden cardiac death (SCD). Originally described as a right ventricular (RV) 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. Following comprehensive histological evaluation, 202 cases (4%) were diagnosed with ACM. Of these, 15 (7%) were diagnosed ante-mortem with dilated cardiomyopathy (DCM)(n=8) or ACM (n=7). Prior symptoms, medical history, circumstances of death, and participation in competitive sport were recorded. Post-mortem genetic testing was undertaken in 24/202 (12%). Rare genetic variants were classified according to American College of Medical Genetics and Genomics (ACMG) criteria. RESULTS: Of 202 ACM decedents (35.4±13.2 years; 82% male), 157 (78%) reported no prior cardiac symptoms. Forty-one decedents (41/202; 20%) were participants in competitive sport. The adjusted odds of dying during physical exertion were higher in males than females (OR 4.58; 95% CI 1.54-13.68; p=0.006) and in competitive athletes compared with non-athletes (OR 16.62; 95% CI 5.39-51.24; p<0.001). None of the decedents with an ante-mortem diagnosis of DCM fulfilled definite 2010 Task Force criteria. Macroscopic appearance of the heart was normal in 40/202 (20%) cases. There was left ventricular (LV) histopathological involvement in 176/202 (87%). Isolated RV disease was seen in 13%, isolated LV disease in 17%, and biventricular involvement in 70%. Among whole hearts, the most common areas of fibro-fatty infiltration were the LV posterobasal (68%) and anterolateral walls (58%). Post-mortem genetic testing yielded pa
AU  - Miles,C
AU  - Finocchiaro,G
AU  - Papadakis,M
AU  - Gray,B
AU  - Westaby,J
AU  - Ensam,B
AU  - Basu,J
AU  - Parry-Williams,G
AU  - Papatheodorou,E
AU  - Paterson,C
AU  - Malhotra,A
AU  - Robertus,JL
AU  - Ware,JS
AU  - Cook,SA
AU  - Asimaki,A
AU  - Witney,A
AU  - Chis,Ster I
AU  - Tome,M
AU  - Sharma,S
AU  - Behr,ER
AU  - Sheppard,MN
DO  - 10.1161/CIRCULATIONAHA.118.037230
EP  - 1797
PY  - 2019///
SN  - 0009-7322
SP  - 1786
TI  - Sudden death and left ventricular involvement in arrhythmogenic cardiomyopathy
T2  - Circulation
UR  - http://dx.doi.org/10.1161/CIRCULATIONAHA.118.037230
UR  - https://www.ncbi.nlm.nih.gov/pubmed/30700137
UR  - https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.118.037230
UR  - http://hdl.handle.net/10044/1/67496
VL  - 139
ER  -
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