Living with Conotruncal heart malformations
A group of heart defects present from birth that affect the area where blood leaves the heart.
Understanding Conotruncal heart malformations
The group includes tetralogy of Fallot, pulmonary atresia with a hole between the lower heart chambers, double-outlet right ventricle, truncus arteriosus, and transposition of the great arteries. These defects are often seen in people with 22q11.2 deletion syndrome. A missing piece of chromosome 22q11.2 has also been found in some people with these defects but no syndrome.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 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
- 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
GARD says a deletion of chromosome 22q11.2 is linked to these defects in some people. GARD lists autosomal recessive inheritance.
Also known as: cfc1-related conotruncal heart malformations; conotruncal heart malformations, variable; cthm; taussig-bing syndrome or defect
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 Conotruncal heart malformations.
Explore research for Conotruncal heart malformations
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