Living with Ehlers-Danlos syndrome, cardiac valvular type
A rare form of Ehlers-Danlos syndrome with soft skin, easy bruising, loose joints, and heart valve leaks that slowly worsen.
Understanding Ehlers-Danlos syndrome, cardiac valvular type
Features include soft, stretchy skin, easy bruising, scars that look thin or sunken, and loose joints. The heart valve problems are severe and progressive, with leaking of the mitral and/or aortic valve. Signs show up in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leaking heart valves (mitral or aortic)
- Stretchy, soft skin
- Easy bruising
- Very flexible joints
- Joint dislocation
- Bulge in the aortic root (aortic root aneurysm)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in COL1A2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Ehlers-Danlos Society and Bobby Jones Chiari & Syringomyelia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Ehlers-Danlos Society, Bobby Jones Chiari & Syringomyelia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Ehlers-Danlos Society and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the COL1A2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cardiac valvular form of autosomal recessive ehlers-danlos syndrome; cardiac valvular form of ehlers-danlos syndrome; cardiac-valvular eds; cardiac-valvular ehlers-danlos syndrome; col1a2-related ehlers-danlos syndrome, cardiac valvular type; cveds
Patient organizations
- Ehlers-Danlos SocietyEhlers-Danlos syndrome, cardiac valvular type · United States
- Bobby Jones Chiari & Syringomyelia FoundationEhlers-Danlos syndrome, cardiac valvular type · United States
- EDS AwarenessEhlers-Danlos syndrome, cardiac valvular type · United States
- The Zebra NetworkEhlers-Danlos syndrome, cardiac valvular type · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ehlers-Danlos syndrome, cardiac valvular type.
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