Cardiac-Valvular EDS (cvEDS)

ESTIMATED PREVALENCE: <1 in 1,000,000 [19] (7 genetically-confirmed cases in the world, but fewer than 1,000 cases suspected)[20]

INHERITANCE PATTERN: Autosomal Recessive

SYMPTOMS:

Cardiac-Valvular EDS (cvEDS) often starts as a progressive disease of the mitral valve and may affect other cardiac valves. Patients may have joint hypermobility, hyperextensible skin, flatfeet, sagging of the lower eyelids (ptosis), and/or an absence of creases on one or more fingers.

DIAGNOSTIC CRITERIA [21]:

To diagnose cvEDS, the following formula must be satisfied:

Major Criterion #1 + Positive Autosomal Recessive Family History + One (1) Additional Major Criterion OR two (2) Minor Criteria

A patient must have Major Criterion #1 (severe, progressive cardiac valvular issues), a positive autosomal recessive type of family history, and one other Major Criterion, or two Minor Criteria. To confirm a suspected diagnosis, molecular genetic testing must be performed.

The major and minor criteria and the genetic markers responsible for cvEDS may be found in the chart below.

Major Diagnostic 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 Diagnostic Criteria

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

Genetic Markers:

COL1A2