Living with Jervell and Lange-Nielsen syndrome
An inherited condition with deep hearing loss from birth and a heart rhythm problem that can cause fainting.
Understanding Jervell and Lange-Nielsen syndrome
In long QT syndrome, the heart muscle takes longer than usual to recharge between beats. Starting in early childhood, irregular heartbeats raise the chance of fainting (syncope). Hearing loss is present at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Profound hearing loss in both ears
- Irregular heartbeat (arrhythmia)
- Fainting spells
- Loss of consciousness
- Fast, irregular heart rhythm (torsade de pointes)
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 ear, nose, and throat 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
- Ear, nose, and throat specialists (otolaryngologists); 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 (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cardio-auditory syndrome; jervell and lange nielsen syndrome; jervell and lange-nielson syndrome; jervell lange-nielsen syndrome; jervell-lange nielsen syndrome; jlns
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 Jervell and Lange-Nielsen syndrome.
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