Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection

Area of Science:

• Cardiovascular Genetics
• Vascular Disease
• Genetic Testing

Background:

• Previous spontaneous coronary artery dissection (SCAD) genetic studies were retrospective or case reports.
• A dedicated clinical program evaluated patients in a cardiovascular genetics clinic.
• The study aimed to determine the role of genetically triggered vascular disease and genetic testing in SCAD.

Purpose of the Study:

• To investigate the prevalence of genetically triggered vascular diseases in patients with spontaneous coronary artery dissection (SCAD).
• To assess the utility of genetic testing in identifying underlying genetic disorders associated with SCAD.
• To determine if genetic diagnoses correlate with patient demographics, such as age at SCAD event.

Main Methods:

• Prospective data collection for 107 SCAD patients from July 2013 to September 2017.
• Cardiovascular genetics evaluation for 73 patients, with genetic testing performed on 44.
• Genetic testing was clinically indicated based on imaging, family history, physical exam, and patient preference.

Main Results:

• 8.2% (6 out of 73) of evaluated SCAD patients had a molecularly identifiable genetic disorder.
• Diagnoses included vascular Ehlers-Danlos syndrome (3), Nail-patella syndrome (1), autosomal dominant polycystic kidney disease (1), and Loeys-Dietz syndrome (1).
• Patients with positive genetic testing were significantly younger at their first SCAD event.

Conclusions:

• A significant proportion of SCAD patients harbor identifiable genetic disorders linked to vascular disease.
• Vascular Ehlers-Danlos syndrome was the most common diagnosis identified.
• A low threshold for genetic testing is advised for SCAD patients due to the association with younger age at onset.