Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD)

Study question: Do mutations within certain genes cause or confer susceptibility to
spontaneous coronary artery dissection (SCAD)?

Specific aims:

1. Create a genomic DNA and plasma biobank for individuals diagnosed with SCAD.

2. Identify inherited and de novo/new mutations that underlie SCAD.

Long term objective:Discover molecular and cellular mechanisms of SCAD and develop biomarkers
to enable prediction and prevention.

The purpose of the research is to identify mutations (defects in the genetic blueprint) that
cause tears in blood vessels that supply the heart. Some mutations may be inherited (passed
on) from a parent without an apparent blood vessel problem while others may develop for the
first time in the affected person. The study includes individuals diagnosed with spontaneous
coronary artery dissection and their biological parents.

Adults with SCAD will be identified both retrospectively and prospectively.Confirmation of
the diagnosis by review of coronary angiography will be required before proceeding with the
informed consent process and blood or saliva sample procurement.

Inclusion Criteria:

- Men and women able to give informed consent and complete a 2 page questionnaire

- Diagnosis of one or more episodes of spontaneous coronary artery dissection (SCAD)

- Biological parent of individual with SCAD

Exclusion Criteria:

- Lack of confirmation of SCAD diagnosis