title: Spontaneous coronary artery dissection and its association with heritable connective tissue disorders.
abstract: Spontaneous coronary artery dissection (SCAD) is an under-recognised but important cause of myocardial infarction and sudden cardiac death. We sought to determine the role of medical and molecular genetic screening for connective tissue disorders in patients with SCAD.
  
  
  
  We performed a single-centre retrospective descriptive analysis of patients with spontaneous coronary artery disease who had undergone medical genetics evaluation 1984-2014 (n=116). The presence or absence of traits suggestive of heritable connective tissue disease was extracted. Genetic testing for connective tissue disorders and/or aortopathies, if performed, is also reported.
  
  
  
  Of the 116 patients (mean age 44.2 years, 94.8% women and 41.4% with non-coronary fibromuscular dysplasia (FMD)), 59 patients underwent genetic testing, of whom 3 (5.1%) received a diagnosis of connective tissue disorder: a 50-year-old man with Marfan syndrome; a 43-year-old woman with vascular Ehlers-Danlos syndrome and FMD; and a 45-year-old woman with vascular Ehlers-Danlos syndrome. An additional 12 patients (20.3%) had variants of unknown significance, none of which was thought to be a definite disease-causing mutation based on in silico analyses.
  
  
  
  Only a minority of patients with SCAD who undergo genetic evaluation have a likely pathogenic mutation identified on gene panel testing. Even fewer exhibit clinical features of connective tissue disorder. These findings underscore the need for further studies to elucidate the molecular mechanisms of SCAD.
authors: Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
authors: Stanislav
authors: S
authors: Henkin
authors: Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
authors: Sara M
authors: SM
authors: Negrotto
authors: Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
authors: Marysia S
authors: MS
authors: Tweet
authors: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA Division of Women and Child Health, Department of Paediatrics and Child Health, The Aga Khan University, Karachi, Pakistan.
authors: Salman
authors: S
authors: Kirmani
authors: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA.
authors: David R
authors: DR
authors: Deyle
authors: Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
authors: Rajiv
authors: R
authors: Gulati
authors: Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.
authors: Timothy M
authors: TM
authors: Olson
authors: Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
authors: Sharonne N
authors: SN
authors: Hayes
mesh_terms: D000328:Adult; D003240:Connective Tissue Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D003330:Coronary Vessel Anomalies / Q000000981:diagnostic imaging / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005352:Fibromuscular Dysplasia / Q000175:diagnosis / Q000235:genetics; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D008910:Minnesota; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D012042:Registries; D012189:Retrospective Studies; D012307:Risk Factors; D014652:Vascular Diseases / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: D005819:Genetic Markers