Living with Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
A very rare condition with heart and blood vessel differences and short fingers, present from birth.
Understanding Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
It combines heart and blood vessel differences, such as an open duct between two major vessels (patent ductus arteriosus), a heart valve with two flaps instead of three (bicuspid aortic valve), and a narrowing-like change in the aorta, with hand differences such as short fingers. GARD says it is most likely autosomal dominant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Open duct near the heart (patent ductus arteriosus)
- Aortic valve with two flaps (bicuspid)
- Narrowing-like change in the aorta (pseudocoarctation)
- Short fingers
- Short fifth hand bone
- Curved pinkie finger (clinodactyly)
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 bone and joint specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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
Changes in the genes (also called variants) cause this condition. GARD says it is most likely autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: patent arterial duct-bicuspid aortic valve-hand anomalies syndrome; patent ductus arteriosus and bicuspid aortic valve with hand anomalies
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 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome.
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