Familial spontaneous coronary artery dissection

Evidence for genetic susceptibility

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

IMPORTANCE Spontaneous coronary artery dissection (SCAD) is a major cause of acute coronary syndrome in young women, especially among those without traditional cardiovascular risk factors. Prior efforts to study SCAD have been hampered by underrecognition and lack of registry-based studies. Risk factors and pathogenesis remain largely undefined, and inheritability has not been reported. OBSERVATIONS Using novel research methods, patient champions, and social media, the Mayo Clinic SCAD Registry has been able to better characterize this condition, which was previously considered rare. Of 412 patient enrollees, we identified 5 familial cases of SCAD comprising affected mother-daughter, identical twin sister, sister, aunt-niece, and first-cousin pairs, implicating both recessive and dominant modes of inheritance. The mother-daughter pair also reported fatalmyocardial infarction in 3 maternal relatives. None of the participants had other potential risk factors for SCAD, including connective tissue disorders or peripartum status. CONCLUSIONS AND RELEVANCE To our knowledge, this series is the first to identify a familial association in SCAD suggesting a genetic predisposition. Recognition of SCAD as a heritable disorder has implications for at-risk family members and furthers our understanding of the pathogenesis of this complex disease. Whole-exome sequencing provides a unique opportunity to identify the molecular underpinnings of SCAD susceptibility.

Original languageEnglish (US)
Pages (from-to)821-826
Number of pages6
JournalJAMA Internal Medicine
Volume175
Issue number5
DOIs
StatePublished - May 1 2015

Fingerprint

Genetic Predisposition to Disease
Mothers
Nuclear Family
Registries
Siblings
Exome
Social Media
Peripartum Period
Monozygotic Twins
Spontaneous Coronary Artery Dissection
Acute Coronary Syndrome
Connective Tissue
Infarction
Research

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Familial spontaneous coronary artery dissection : Evidence for genetic susceptibility. / Goel, Kashish; Tweet, Marysia; Olson, Timothy Mark; Maleszewski, Joseph; Gulati, Rajiv; Hayes, Sharonne N.

In: JAMA Internal Medicine, Vol. 175, No. 5, 01.05.2015, p. 821-826.

Research output: Contribution to journalArticle

@article{21177b7750244af29caa472da4ac1031,
title = "Familial spontaneous coronary artery dissection: Evidence for genetic susceptibility",
abstract = "IMPORTANCE Spontaneous coronary artery dissection (SCAD) is a major cause of acute coronary syndrome in young women, especially among those without traditional cardiovascular risk factors. Prior efforts to study SCAD have been hampered by underrecognition and lack of registry-based studies. Risk factors and pathogenesis remain largely undefined, and inheritability has not been reported. OBSERVATIONS Using novel research methods, patient champions, and social media, the Mayo Clinic SCAD Registry has been able to better characterize this condition, which was previously considered rare. Of 412 patient enrollees, we identified 5 familial cases of SCAD comprising affected mother-daughter, identical twin sister, sister, aunt-niece, and first-cousin pairs, implicating both recessive and dominant modes of inheritance. The mother-daughter pair also reported fatalmyocardial infarction in 3 maternal relatives. None of the participants had other potential risk factors for SCAD, including connective tissue disorders or peripartum status. CONCLUSIONS AND RELEVANCE To our knowledge, this series is the first to identify a familial association in SCAD suggesting a genetic predisposition. Recognition of SCAD as a heritable disorder has implications for at-risk family members and furthers our understanding of the pathogenesis of this complex disease. Whole-exome sequencing provides a unique opportunity to identify the molecular underpinnings of SCAD susceptibility.",
author = "Kashish Goel and Marysia Tweet and Olson, {Timothy Mark} and Joseph Maleszewski and Rajiv Gulati and Hayes, {Sharonne N.}",
year = "2015",
month = "5",
day = "1",
doi = "10.1001/jamainternmed.2014.8307",
language = "English (US)",
volume = "175",
pages = "821--826",
journal = "JAMA Internal Medicine",
issn = "2168-6106",
publisher = "American Medical Association",
number = "5",

}

TY - JOUR

T1 - Familial spontaneous coronary artery dissection

T2 - Evidence for genetic susceptibility

AU - Goel, Kashish

AU - Tweet, Marysia

AU - Olson, Timothy Mark

AU - Maleszewski, Joseph

AU - Gulati, Rajiv

AU - Hayes, Sharonne N.

PY - 2015/5/1

Y1 - 2015/5/1

N2 - IMPORTANCE Spontaneous coronary artery dissection (SCAD) is a major cause of acute coronary syndrome in young women, especially among those without traditional cardiovascular risk factors. Prior efforts to study SCAD have been hampered by underrecognition and lack of registry-based studies. Risk factors and pathogenesis remain largely undefined, and inheritability has not been reported. OBSERVATIONS Using novel research methods, patient champions, and social media, the Mayo Clinic SCAD Registry has been able to better characterize this condition, which was previously considered rare. Of 412 patient enrollees, we identified 5 familial cases of SCAD comprising affected mother-daughter, identical twin sister, sister, aunt-niece, and first-cousin pairs, implicating both recessive and dominant modes of inheritance. The mother-daughter pair also reported fatalmyocardial infarction in 3 maternal relatives. None of the participants had other potential risk factors for SCAD, including connective tissue disorders or peripartum status. CONCLUSIONS AND RELEVANCE To our knowledge, this series is the first to identify a familial association in SCAD suggesting a genetic predisposition. Recognition of SCAD as a heritable disorder has implications for at-risk family members and furthers our understanding of the pathogenesis of this complex disease. Whole-exome sequencing provides a unique opportunity to identify the molecular underpinnings of SCAD susceptibility.

AB - IMPORTANCE Spontaneous coronary artery dissection (SCAD) is a major cause of acute coronary syndrome in young women, especially among those without traditional cardiovascular risk factors. Prior efforts to study SCAD have been hampered by underrecognition and lack of registry-based studies. Risk factors and pathogenesis remain largely undefined, and inheritability has not been reported. OBSERVATIONS Using novel research methods, patient champions, and social media, the Mayo Clinic SCAD Registry has been able to better characterize this condition, which was previously considered rare. Of 412 patient enrollees, we identified 5 familial cases of SCAD comprising affected mother-daughter, identical twin sister, sister, aunt-niece, and first-cousin pairs, implicating both recessive and dominant modes of inheritance. The mother-daughter pair also reported fatalmyocardial infarction in 3 maternal relatives. None of the participants had other potential risk factors for SCAD, including connective tissue disorders or peripartum status. CONCLUSIONS AND RELEVANCE To our knowledge, this series is the first to identify a familial association in SCAD suggesting a genetic predisposition. Recognition of SCAD as a heritable disorder has implications for at-risk family members and furthers our understanding of the pathogenesis of this complex disease. Whole-exome sequencing provides a unique opportunity to identify the molecular underpinnings of SCAD susceptibility.

UR - http://www.scopus.com/inward/record.url?scp=84929118847&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84929118847&partnerID=8YFLogxK

U2 - 10.1001/jamainternmed.2014.8307

DO - 10.1001/jamainternmed.2014.8307

M3 - Article

VL - 175

SP - 821

EP - 826

JO - JAMA Internal Medicine

JF - JAMA Internal Medicine

SN - 2168-6106

IS - 5

ER -