Cardiac-valvular EDS (cvEDS)

Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.

What is cvEDS?

cvEDS is an incredibly rare type of EDS which causes severe heart valve problems, atrophic scarring, hyperextensibility of the skin and joint hypermobility.

What is the cause of cvEDS?

cvEDS is caused by variations in a person’s genes. cvEDS is caused by variations in gene COL1A2.

How is cvEDS diagnosed?

When diagnosing cvEDS a list of common and relevant signs and symptoms of the condition are used. This is referred to as diagnostic criteria and in the case of cvEDS it is split into a set of major and minor criteria.

The 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 (generalised or restricted to small joints)

The Minor criteria

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

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

Major criteria 1 (severe progressive cardiac-valvular problems) and a family history compatible with autosomal recessive inheritance

plus

Either: one other major criterion

And/or: at least two minor criteria

If a person meets the criteria a genetic test is done to confirm the diagnosis. You can read more about genetic testing for the rare types of EDS here.

How is cvEDS managed?

cvEDS is managed through addressing the symptoms a person is experiencing. This is best done through being in the care of the NHS National EDS service; a specialised service for adults and children who have or are suspected to have a rare type of EDS.

For information about the service and for referral eligibility please click on the following links:

EDS National Diagnostic Service (based in London) covering the South of England

EDS National Diagnostic Service (based in Sheffield) covering the North of England