Living with Cardiac valvular dysplasia, X-linked
A condition in which one or more heart valves form abnormally, so blood may not flow normally through the heart.
Understanding Cardiac valvular dysplasia, X-linked
The heart has four valves that keep blood moving forward. In this condition, one or more valves are thickened and cannot open and close fully. This can cause abnormal blood flow and a heart murmur. Signs vary greatly. It begins in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leaking aortic valve (aortic regurgitation)
- Leaking mitral valve (mitral regurgitation)
- Mitral valve prolapse
- Leaking pulmonary valve
- Leaking tricuspid valve
- Heart murmur
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 genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in FLNA 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
Conquering CHD may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Conquering CHD
- 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 Conquering CHD
- 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
Changes in the FLNA gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: congenital valvular dysplasia; cvd1; cvdpx; filamin a-related x-linked myxomatous valvular dysplasia; flna-related valvular dystrophy; flna-related x-linked cardiac valvular dysplasia
Patient organizations
- Conquering CHDCardiac valvular dysplasia, X-linked · United States
You are more than your diagnosis
Perspectives from people navigating life with Cardiac valvular dysplasia, X-linked.
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