Living with Cardiac anomalies-heterotaxy syndrome
A condition that affects the heart's structure and how organs are arranged, beginning before or at birth.
Understanding Cardiac anomalies-heterotaxy syndrome
It involves non-compaction of the heart's lower chambers, a slow heartbeat (bradycardia), a narrowed pulmonary valve (pulmonary valve stenosis), and a hole between the upper heart chambers (secundum atrial septal defect). It begins during pregnancy, at birth, or in infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Non-compaction of the heart's lower chamber muscle
- Slow heartbeat (bradycardia)
- Narrowed pulmonary valve
- Hole between the upper heart chambers
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
GARD says this condition is inherited in an autosomal dominant way, so one changed copy of a gene can cause it. A link to chromosome 6 has been reported.
Also known as: cardiac anomaly and heterotaxy 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 Cardiac anomalies-heterotaxy syndrome.
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