Cardiac-Valvular Ehlers-Danlos Syndrome (cvEDS)

cvEDS is a genetic connective tissue disorder that causes severe heart valve problems, skin hyperextensibility, and joint hypermobility.

cvEDS is an ultra-rare disorder that affects less than 1 in 1 million people.

cvEDS is caused by differences in the genes called genetic variants. These genetic variants affect the connective tissue, which provides support, protection, and structure throughout the body.

cvEDS is caused by genetic variants of the COL1A2 gene.

cvEDS is inherited in an autosomal recessive pattern. This means if a person inherits the genetic variant from both of their parents, they will have cvEDS. People with one copy of the genetic variant are carriers of cvEDS. Carriers do not have the condition themselves but may pass the genetic variant on to their children.

cvEDS may be suspected if a person has:

  • Severe cardiac-valvular disease
  • Skin hyperextensibility
  • Atrophic scarring
  • Joint hypermobility

If a person meets the diagnostic criteria for cvEDS, genetic testing should be done to confirm the diagnosis. Genetic testing is used to see if a person has the genetic variants that cause cvEDS.

To meet the diagnostic criteria for cvEDS, a person must meet:

  • Major criterion 1 AND family history compatible with autosomal recessive inheritance AND at least one other major criterion


  • Major criterion 1 AND family history compatible with autosomal recessive inheritance AND at least two minor criteria

Major Criteria 

  1. Severe progressive cardiac-valvular problems (aortic valve, mitral valve)
  2. Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising
  3. Joint hypermobility (generalized or restricted to small joints)

Minor criteria 

  1. Inguinal hernia
  2. Pectus deformity (especially excavatum)
  3. Joint dislocations
  4. Foot deformities: pes planus, pes planovalgus, hallux valgus

Progressive Heart Valve Problems

Pectus Excavatum

Easily Bruised Skin

cvEDS is managed by addressing the symptoms a person is experiencing. cvEDS can cause a variety of symptoms in many different areas of the body, so people with cvEDS may require multiple providers in different specialties to manage their care. Key aspects of care focus on the monitoring and management of cardiac valve issues. Each person should work with their care team to develop a care plan that meets their individual needs.

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