January 17, 2019
2 min read

Genetic factor may identify patients at risk for spontaneous coronary artery dissection

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Deepak L. Bhatt
Deepak L. Bhatt

The first genetic risk locus for spontaneous coronary artery dissection has been identified, according to a study published in the Journal of the American College of Cardiology.

“In this study we investigated whether this factor was also associated with [spontaneous coronary artery dissection], and the answer is yes,” David Adlam, DPhil, senior lecturer in the department of cardiovascular sciences at University of Leicester in England, said in a press release. “This genetic factor — the A allele of the genetic variant rs9349379 located in the PHACTR1 gene — is also a risk factor for [spontaneous coronary artery dissection]. Interestingly, it also appears to give a small protective effect from a classic heart attack, for which another allelic form of the same genetic variant (G) is already known to increase the risk in both men and women.”

Patients with, without spontaneous coronary artery dissection

Researchers analyzed data from 1,055 patients with spontaneous coronary artery dissection and 7,190 patients in the control group. Of the patients with spontaneous coronary artery dissection, 491 underwent screening for fibromuscular dysplasia by CTA. Through this data, researchers tested the link between the rs9349379 genotype and spontaneous coronary artery dissection.

In patients with spontaneous coronary artery dissection, the allele rs9349379-A has been shown to be more prevalent.

A meta-analysis of both patient groups found that the OR per each copy of rs9349379-A was 1.67 (95% CI, 1.5-1.86).

In the patients who were screened by CTA, patients without fibromuscular dysplasia had a greater association with spontaneous coronary artery dissection (OR = 1.89; 95% CI, 1.53-2.33) compared with those with fibromuscular dysplasia (OR = 1.6; 95% CI, 1.28-1.99).

There were no differences in the distribution of the risk allele in patients with pregnancy-associated spontaneous coronary artery dissection, recurrent spontaneous coronary artery dissection and the age at first event.

Further research

“The previously reported association between this common variant and other vascular disorders, especially [fibromuscular dysplasia], provides a genetic explanation for the established clinical associations among these disorders,” Adlam and colleagues wrote. “Further studies will be required to confirm the relative importance of the endothelin mechanistic pathway and its relevance to [spontaneous coronary artery dissection] and [fibromuscular dysplasia] risks.”

In a related editorial, Guillaume Paré, MD, MSc, FRCPC, associate professor of pathology and molecular medicine, and health research methods, evidence and impact; director of the medical biochemistry postgraduate education program, and associate member of biochemistry and biomedical sciences at McMaster University in Hamilton, Ontario, and Deepak L. Bhatt, MD, MPH, executive director of interventional cardiology programs at Brigham and Women’s Hospital, professor of medicine at Harvard Medical School and Cardiology Today’s Intervention Chief Medical Editor, wrote: “The association links three nonatherosclerotic arteriopathies and provides novel pathophysiological insights. If the role of endothelin-1 in [spontaneous coronary artery dissection] is confirmed, preventive therapies targeting this pathway could be envisioned. However, the possibility that these approaches could increase the risk of CAD must also be considered. Such advances will require substantial effort, although the work by Adlam et al is a step in the right direction.” – by Darlene Dobkowski

Disclosures: Adlam reports he received research funding from Abbott Vascular and AstraZeneca. All other authors report no relevant financial disclosures. Paré reports he is a compensated consultant for Akcea, Amgen, Bristol-Myers Squibb, Lexicomp and Sanofi; received research support through his institution from Bayer and Sanofi, and holds the Canada Research Chair in Genetic and Molecular Epidemiology and the CISCO Professorship in Integrated Health Systems. Bhatt reports he has financial ties with numerous pharmaceutical and device companies.