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Familial Spontaneous Coronary Artery Dissection and the SMAD-3 Mutation

Amir Solomonica1, Rodrigo Bagur1, Tawfiq Choudhury1

  • 1Western University, London Health Sciences Centre London, Ontario, Canada; Department of Medicine, London Health Sciences Centre London, Ontario, Canada.

The American Journal of Cardiology
|May 16, 2019
PubMed

Insights

Spontaneous coronary artery dissection (SCAD) is linked to Loeys-Dietz syndrome, a genetic disorder. A family with a SMAD3 mutation experienced recurrent SCAD, highlighting a potential genetic connection.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Connective Tissue Disorders

Background:

  • Spontaneous coronary artery dissection (SCAD) accounts for approximately 4% of acute coronary syndrome cases.
  • The underlying pathophysiology of SCAD remains incompletely understood.
  • Loeys-Dietz syndrome is a genetic connective tissue disorder associated with aortic aneurysms, arterial tortuosity, and dissections, caused by mutations in genes of the transforming growth factor β pathway.

Observation:

  • This report details a family exhibiting a SMAD3 gene mutation.
  • The family members were diagnosed with Loeys-Dietz syndrome.
  • These individuals presented with recurrent episodes of SCAD.

Findings:

  • A specific SMAD3 gene mutation was identified in the affected family.
  • The presence of Loeys-Dietz syndrome was confirmed in the family members.
  • Recurrent SCAD episodes were observed in individuals with this genetic profile.

Implications:

  • This case suggests a potential genetic link between SMAD3 mutations, Loeys-Dietz syndrome, and recurrent SCAD.
  • Understanding this connection may improve diagnostic approaches for SCAD patients.
  • Further research into the genetic underpinnings of SCAD is warranted.

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