Aortic Dissection in a Patient with Novel Frameshift COL5A1 Variant of Classical Ehlers-Danlos Syndrome

Area of Science:

• Genetics
• Cardiology
• Dermatology

Background:

• Classical Ehlers-Danlos syndrome (cEDS) is a rare inherited connective tissue disorder.
• Major criteria include skin hyperextensibility, atrophic scars, and joint hypermobility.
• Aortic dissection is a rare but serious complication described in some EDS subtypes.

Purpose of the Study:

• To report a case of spontaneous distal aortic dissection in a patient diagnosed with cEDS.
• To investigate the genetic basis of cEDS in this patient.
• To emphasize the potential for vascular complications in cEDS.

Main Methods:

• Clinical diagnosis of cEDS based on major criteria.
• Identification of a novel frameshift mutation in the COL5A1 gene.
• Review of literature on aortic dissection in Ehlers-Danlos syndrome subtypes.

Main Results:

• A 39-year-old female with a history of congenital heart repair presented with spontaneous distal aortic dissection.
• The patient met the diagnostic criteria for cEDS.
• A novel frameshift mutation in COL5A1 was identified, suggesting a genetic link to vascular fragility.

Conclusions:

• Classical Ehlers-Danlos syndrome is a rare autosomal dominant disorder.
• Arterial dissections are infrequently observed in cEDS.
• The association between cEDS and vascular fragility may stem from novel mutations in type V collagen genes like COL5A1.