Jervell And Lange Nielsen Syndrome

Overview

Jervell and Lange-Nielsen syndrome is a very rare inherited condition that affects two parts of the body: the heart and the ears. It is present from birth. It is a severe form of long QT syndrome, which means the heart takes longer than usual to reset between beats. This can make dangerous fast heart rhythms more likely. It also causes hearing loss in both ears that is present from birth. The condition is not contagious.

No, it is very rare. It is much less common than other forms of long QT syndrome and affects only a small number of people worldwide.

It usually affects babies and children, often because hearing loss is noticed early or because a child faints. It affects boys and girls equally. Adults can have it too, but most people are diagnosed in childhood.

Symptoms

Common symptoms

• Hearing loss in both ears from birth. This is usually severe or profound and is caused by a problem in the inner ear.
• Fainting or blackouts, especially during exercise, strong emotions, or a sudden loud noise. Some people faint without an obvious trigger.
• Palpitations, which means feeling your heart race, flutter, or skip a beat.
• Seizures caused by a sudden drop in blood flow to the brain during a dangerous heart rhythm.
• In babies: being floppy, not responding normally, or having blue lips or skin during an episode.

Symptoms in children

• Hearing tests may show a problem soon after birth.
• Speech and language may be delayed if hearing loss is not supported early.
• A child may faint at school, during sports, or after being startled.
• Some children have seizures that are first thought to be epilepsy.
• A child may say their heart feels fast or funny, or they may suddenly feel dizzy and weak.

Symptoms in older adults

• Most people with this condition are diagnosed in childhood, but some adults are diagnosed later.
• An adult may have lifelong hearing loss and a history of fainting or palpitations.
• Pregnancy planning and review of heart medicines are important topics for adults with this condition.
• Adults need lifelong specialist follow-up because the risk of dangerous heart rhythms does not go away.

Causes

Main causes

• Jervell and Lange-Nielsen syndrome is caused by changes in genes that help control tiny channels in the heart and inner ear.
• It is inherited in a pattern called autosomal recessive. This means a child usually inherits one changed copy of the gene from each parent.
• Parents who each carry one changed copy usually do not have symptoms, but they can pass the condition on to their children.
• The gene changes affect the heart's electrical reset and the inner ear's ability to send sound signals.

Risk factors

• Having a brother or sister with Jervell and Lange-Nielsen syndrome.
• A family history of long QT syndrome, fainting in young people, or sudden cardiac death at a young age.
• Parents being closely related by blood, which can raise the chance that both carry the same rare gene change.
• Being born with hearing loss, especially if there is also a family history of heart rhythm problems.

When to see a doctor

See a doctor urgently if:

• Any fainting, near-fainting, or unexplained seizure, especially in a child or young adult.
• A heartbeat that feels very fast, irregular, or is accompanied by dizziness or chest pain.
• A baby or child who has a blue, pale, or floppy episode.
• A family member has been diagnosed with a inherited heart rhythm condition and you have not been checked.

Book a routine appointment if:

• You or your child have hearing loss and a family history of fainting or sudden cardiac death.
• You have Jervell and Lange-Nielsen syndrome and need a routine specialist review.
• You are planning a pregnancy and have this condition or a family history of it.
• You need advice about school, sports, work, or travel with this condition.

Diagnosis

A doctor may suspect this condition when a baby or child has hearing loss from birth and also has fainting, seizures, or a family history of heart rhythm problems. Diagnosis is made by a specialist team using heart tests, hearing tests, and genetic testing. Family members may also be offered tests.

Tests that may be done

• Electrocardiogram (ECG): a painless test that records the heart's electrical activity and can show a long QT interval.
• Holter monitor: a portable ECG worn for a day or more to record the heart rhythm over time.
• Exercise ECG: a heart trace taken while walking or cycling, because some rhythm problems appear during activity.
• Hearing tests: to measure hearing and find out the type and degree of hearing loss.
• Genetic testing: a blood or saliva test to look for changes in the genes linked to the condition.
• Family screening: ECG and genetic testing for parents, brothers, and sisters, even if they seem healthy.

What to expect at your appointment

You will usually be referred to a specialist heart clinic and a hearing team. The tests are painless and safe. Results may take a few weeks, especially genetic tests. The specialist will explain what the results mean and what follow-up is needed.

Treatment

There is no cure for Jervell and Lange-Nielsen syndrome, but specialist care can greatly lower the risk of dangerous heart rhythms. Treatment is tailored to each person and usually includes heart-protecting medicines, advice about triggers, hearing support, and sometimes an implanted device. Everyone with this condition needs lifelong follow-up.

Self-care at home

• Follow your specialist care plan and keep all appointments.
• Wear a medical ID bracelet or necklace that says you have a heart rhythm condition.
• Tell your school, workplace, and sports coaches about your condition and what to do in an emergency.
• Learn CPR and how to use an AED (automated external defibrillator) if one is available. Encourage family members to learn too.
• Check with a pharmacist or doctor before taking any new medicine, including non-prescription medicines, vitamins, and herbal products.
• Avoid dehydration and follow advice about fever or illness, because being unwell can put extra strain on the heart.
• Avoid very strenuous or competitive sports unless your specialist has said it is safe for you.

Medical treatments

Specialist heart doctors may recommend medicines that help steady the heart rhythm and reduce the chance of dangerous fast rhythms. Some people need an implantable cardioverter-defibrillator (ICD), a small device placed under the skin that can correct a dangerous rhythm. Hearing support, such as hearing aids or cochlear implants, is arranged through a hearing team. Treatment choices are made carefully by the specialist team and are based on each person's needs.

When is surgery considered?

Some people need a procedure to place an ICD. In selected cases, specialists may consider a nerve procedure to reduce the heart's risk of dangerous rhythms. These are specialist decisions and are not needed for everyone.

Living with this condition

Living with Jervell and Lange-Nielsen syndrome usually means keeping up with specialist heart checks, hearing support, and a clear emergency plan. Many people live full, active lives with the right care. It helps to have a written plan for school, work, travel, and sports.

Lifestyle tips

• Stay physically active in ways your specialist approves. Gentle to moderate exercise is often good for general health.
• Get enough sleep and drink enough water, especially in hot weather or during exercise.
• Manage stress where possible, and talk to your team if anxiety about your heart is affecting daily life.
• Avoid known triggers if your specialist has identified them, such as sudden very loud noises or extreme physical stress.
• Plan ahead for travel: carry your medical information and know where the nearest hospital is.
• Keep hearing equipment in good working order and attend hearing appointments.

Diet and exercise

There is no special diet for this condition. A balanced diet and staying well hydrated are helpful. Exercise should be discussed with your specialist team, because some people need to avoid very strenuous or competitive activity. Many people can still enjoy regular activity once their condition is stable.

Mental health and emotional wellbeing

It is normal to feel worried, anxious, or overwhelmed, especially after a diagnosis or a fainting episode. Parents and carers can feel this too. Talking to a doctor, counsellor, or support group can help. If you or someone you know is in crisis or having thoughts of self-harm, contact your local emergency number or a local crisis service right away.

Prevention

The condition itself cannot be prevented because it is inherited. But the risks can be reduced by finding it early, starting specialist care, and checking family members. Genetic counselling can explain the chance of passing it on to children.

Vaccines

There is no vaccine for Jervell and Lange-Nielsen syndrome. Routine vaccinations can be discussed with your specialist, especially if you have an implanted device or you become unwell with a fever.

Screening programmes

Family members may be offered an ECG and genetic testing. Newborn hearing screening can find hearing loss early, but it does not check heart rhythm. If there is a family history of this condition, ask your doctor about screening for children and adults.

Complications

If left untreated

• Dangerous fast heart rhythms that can lead to cardiac arrest and sudden death.
• Injury from fainting, such as falls or accidents.
• Seizures caused by sudden loss of blood flow to the brain.
• Delayed speech and language development if hearing loss is not supported early.
• Anxiety and stress for the person and their family.

Long-term outlook

With early diagnosis and specialist care, many people with Jervell and Lange-Nielsen syndrome can live full and active lives. Treatment lowers the risk of serious heart rhythms, and hearing support helps with communication and development. This is a lifelong condition that needs regular follow-up, but there is good support available.

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