Spontaneous Coronary Artery Dissection and Connective Tissue Disorders
What is the role of medical and molecular genetic screening for connective tissue disorders in patients with spontaneous coronary artery dissection (SCAD)?
The investigators reported the results of a single-center retrospective descriptive analysis of patients with spontaneous coronary artery disease who underwent genetic evaluation at the Mayo Clinic between 1984-2014 (n = 116).
The study population was comprised of 116 patients with a mean age of 44 years, and was predominantly comprised of women (95%). Noncoronary fibromuscular dysplasia (FMD) was present in 41%. Genetic testing was performed in 59 patients, of whom three (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.
SCAD tends to be strongly associated with FMD and appears to be only weakly associated with other known connective tissue disorders. It is likely that the genetic abnormalities that underlie SCAD remain to be discovered, and further research is needed to define the pathophysiology of this uncommon condition.
Clinical Topics: Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Vascular Medicine, Atherosclerotic Disease (CAD/PAD), Cardiac Surgery and CHD and Pediatrics, Congenital Heart Disease
Keywords: Connective Tissue Diseases, Coronary Artery Disease, Coronary Vessel Anomalies, Ehlers-Danlos Syndrome, Fibromuscular Dysplasia, Genetic Testing, Heart Defects, Congenital, Marfan Syndrome, Vascular Diseases
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