Living with Torsade-de-pointes syndrome with short coupling interval
A rare heart rhythm condition that can cause fainting in early adulthood, in a heart with a normal structure.
Understanding Torsade-de-pointes syndrome with short coupling interval
It is a variant of torsade de pointes. A short gap before the first abnormal beat shows on an electrocardiogram (ECG), and the heart has no structural disease. It shows up in early adulthood with fainting (syncope).
Signs & symptoms
GARD lists fainting as the main symptom:
- Fainting (syncope)
- A fast, irregular heart rhythm (ventricular tachycardia)
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 changes in genes (variants) cause this condition, but it doesn't name a specific gene.
Also known as: torsade de pointes short coupled variant; torsade de pointes with short coupling interval syndrome; torsade de pointes, short-coupled variant
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 Torsade-de-pointes syndrome with short coupling interval.
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