Author + information
- Liang Guo,
- Sho Torii,
- Emanuel Harari,
- Hiroyoshi Mori,
- Matthew Kutyna,
- Samantha Smith,
- Ryan Braumann,
- Robert Kutys,
- Renu Virmani and
- Aloke Finn
Background: Plaque erosion causes more than 30-35% of all coronary thrombosis and affects women more frequently than men. Meta-analyses of genome-wide association studies (GWAS) of coronary artery disease (CAD) have revealed CAD risk loci, however, these risk alleles are not specific for plaque erosion. The mechanisms of plaque erosion are poorly understood and whether genetic factors play a role has never been studied. We hypothesize genetic mutations may be associated with young adult subjects who die suddenly secondary to plaque erosion, verified at autopsy.
Methods: We selected 33 (24 males and 9 females; 21 Caucasians, 9 African Americans, and 3 other or unknown race) cases of sudden coronary death due to acute plaque erosion as a first manifestation of CAD (ages 18 to 35 years) from our Institute's sudden death registry. Prevalence of coronary disease risk factors were low except high obesity rate (hypertension 3.0%; hyperlipidemia 6.1%; diabetes 6.1%; smoking 18.2%; obesity (BMI>30) 42.4%). We analyzed the whole exome with next-generation sequencing technology. Genomic mutations, nucleotide variants, copy number variants, and sequence insertion and deletion were analyzed and were categorized as likely or plausible pathogenic cause of plaque erosion.
Results: Culprit lesions were 70.0% (23) in left anterior descending coronary artery, 21.2% (7) in right artery, 12.1% (4) in left circumflex, and 6.1% (2) in first diagonal branch (2 cases had multiple acute eroded plaques). Mean age was 30.0±5.2 [minimum 18, maximum 35, median 32.0], male 29.6±5.3, female 31.0±4.8, Caucasian 29.4±5.5, African Americans 30.0±5.0. Mean BMI 29.8±5.4 [minimum 20.6, maximum 39.7, median 29.8], significant higher than the BMI of 27.6±5.6 from plaque erosion patients older than 35 for which data was available (n=154), p < 0.05. Results will be presented at the meeting.
Conclusions: We conducted the first ever whole exome sequencing in young adults dying of plaque erosion to identify genetic variants that heavily influence risk of dying prematurely of this poorly understood coronary disease entity.
Poster Hall, Hall C
Sunday, March 19, 2017, 9:45 a.m.-10:30 a.m.
Session Title: Unusual Presentations of ACS
Abstract Category: 2. Acute and Stable Ischemic Heart Disease: Clinical
Presentation Number: 1297-325
- 2017 American College of Cardiology Foundation