Conditions
Cardiac-valvular Ehlers-Danlos syndrome (cvEDS)
A very rare type of EDS in which heart valves can weaken over time, often with stretchy, thin skin and loose joints.
About Cardiac-valvular EDS
Cardiac-valvular Ehlers-Danlos syndrome (cvEDS) is a very rare condition. It affects type I collagen, a protein that gives strength to skin, bones and the valves inside the heart. A child gets cvEDS only when a gene change comes from both parents. Parents who each carry one changed copy usually have no signs.
The main concern is the heart valves, especially the aortic and mitral valves. In adults, these valves can slowly get worse and may need surgery. Skin may be stretchy and thin, bruise easily, and heal into thin scars. Joints may bend further than most people's. Some people also have hernias, a chest that sinks in, or flat feet.
A clinical geneticist usually makes the diagnosis, working with a heart doctor (cardiologist). A genetic test of the COL1A2 gene is the main test. A heart ultrasound (echocardiogram) checks the valves.
Before a visit, it helps to record any heart valve problems or surgery, and to save echocardiogram reports. Bruising, scars, joint problems, foot changes, hernias, and relatives with heart valve problems or EDS are useful too.
Who usually evaluates it: Usually a clinical geneticist, working with a heart doctor (cardiologist).
What you can record in Selihc Health
- Heart valve problems or valve surgery, with echocardiogram, hospital and specialist reports
- Skin that stretches, bruises easily or heals into thin scars, with photos
- Joints that come out of place, flat feet, bunions and hernias
- Your own check of how far your skin stretches, how far your joints bend and the shape of your chest, labeled as self-reported
- Genetic test and collagen test reports, with the genes and findings they name
- Relatives with heart valve problems or EDS
What only a clinician can do
- Listening to the heart and reading the echocardiogram
- Examining the skin, scars, joints, chest and feet
- Deciding on genetic testing of COL1A2 or a collagen test on skin cells, and explaining the result
In an emergency
Call 911 right away for chest pain or pressure that lasts more than a few minutes, for fainting, or for sudden or severe trouble breathing. Do not drive yourself.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Cardiac-valvular Ehlers-Danlos syndrome: 2017 international classification
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
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This page is general information written for patients, not medical advice. Content is a draft awaiting clinical review.
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