Living with Polyvalvular heart disease syndrome
A rare condition present from birth with heart valve problems, short stature, distinctive facial features and sometimes mild learning delay.
Understanding Polyvalvular heart disease syndrome
The heart differences most often involve the mitral valve and heart muscle (cardiomyopathy). People also have short stature, distinctive facial features and sometimes mild developmental delay. It begins at birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart valve differences
- Mitral valve prolapse
- Short stature
- Long face, broad forehead and small lower jaw
- Low-set or oddly shaped ears
- Intellectual disability (sometimes mild)
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, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 genes cause this condition but doesn't name a gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: phd syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Polyvalvular heart disease syndrome.
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