About autosomal recessive long qt syndrome
What is autosomal recessive long qt syndrome?
Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. Physical activity, excitement, fright, or stress may trigger the onset of these symptoms. Fainting during the aforementioned activities is also a classic sign of JLNS. JLNS is usually detected during early childhood and is inherited as an autosomal recessive genetic disorder. More than half of the untreated cases of JLNS result in death before the age of 15.
Anton Jervell and Fred Lange-Nielsen provided the first complete description of the electrical conduction problem in the heart called long QT syndrome (LQTS) in 1957. LQTS refers to the QT-interval measured on the electrocardiogram that indicates that the heart muscle is taking longer than usual to recharge between beats. It predisposes those affected to tachyarrhythmias called torsade de pointes (TdP) which leads to syncope and may cause sudden cardiac death.
What are the symptoms for autosomal recessive long qt syndrome?
Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is a recessive disorder with congenital deafness and long-QT syndrome. This disorder is a form of long QT syndrome.
- Symptoms of Autosomal recessive long-QT syndrome may be apparent during early childhood.
- Sensorineural hearing loss is usually profound, affecting both ears; however, it tends to affect the hearing of high frequencies more than low frequencies.
- The autosomal recessive long-QT syndrome causes the cardiac muscle to take longer than usual to recharge between beats.
- Low levels of iron and increased levels of gastrin are seen in people affected by •Autosomal recessive long-QT syndrome.
- Partial or total loss of consciousness accompanied by abnormally fast heart rhythms can be a common symptom in people with Autosomal recessive long-QT syndrome. This can occur without warning and recur unexpectedly.
- Excitement, overexertion, or stress may trigger these recurrent symptoms.
- Some people may have mild Chest pain with no loss of consciousness, while others experience a complete loss of consciousness.
List of symptoms
Sensorineural hearing loss affects both ears,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild Chest pain
List of conditions
Sensorineural hearing loss,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild Chest pain,The cardiac muscle takes longer than usual to recharge between beats
List of Drugs
Lifestyle measures,Beta blockers,Implantation of a defibrillator
What are the causes for autosomal recessive long qt syndrome?
Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is a genetic disease that can be caused by an irregularity in the working of one or more genes.
- Typically, Autosomal recessive long-QT syndrome is inherited; it is brought on by an anomaly in the ion channel gene code.
- Autosomal recessive long-QT syndrome occurs if there is any defect in the ion channels, causing a delay in the time it takes for the electrical system to recharge after each heartbeat.
- There have been many ion channel anomalies found. The most prevalent ones are LQT1, LQT2, LQT3, LQT4, and LQT5, categorized based on the kind of channel that results in LQTS.
- Future cardiac events are correlated with the type of LQTS categorization, with LQT3 patients having the highest risk of potentially fatal arrhythmias. Jervell, Lange-Nielsen Syndrome- Despite carrying the problematic gene, both parents may not have LQTS.
- There is a 25% probability that each child may inherit LQTS. Since there is very little probability that both parents would inherit the LQTS gene, this syndrome, which is connected to birth deafness, is highly uncommon.
- Romano-Ward Syndrome- Usually, one parent has LQTS while the other does not. The likelihood that a child will inherit the defective gene is 50%.
- Hearing is normal in this syndrome; however, there is a higher chance that the children in this family will have LQTS.
List of symptoms
Sensorineural hearing loss affects both ears,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild chest pain
List of conditions
Sensorineural hearing loss,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild chest pain,The cardiac muscle takes longer than usual to recharge between beats
List of Drugs
Lifestyle measures,Beta blockers,Implantation of a defibrillator
What are the treatments for autosomal recessive long qt syndrome?
Treatment for hereditary Autosomal recessive long-QT syndrome does not reduce QT interval length. However, it can significantly lower the risk of convulsions and life-threatening irregular heartbeats.
- The majority of patients with inherited autosomal recessive long-QT syndrome are recommended to use beta-blockers, which slow down the heart's rate during physical activity or stressful situations.
- It is recommended to avoid very severe activity and manage stress if your symptoms worsen when you exercise or are under stress.
- Yoga, meditation, and breathing techniques are all effective strategies to reduce stress.
- Additionally, your doctor could advise you to take potassium supplements or eat foods high in potassium like bananas.
- You are more likely to experience major Autosomal recessive long-QT syndrome problems if you have previously fainted or experienced risky cardiac rhythms as a result of the illness.
- In order to implant a pacemaker or implantable cardioverter-defibrillator in your chest, your doctor can advise surgery. When they notice an aberrant heart rhythm, these devices monitor the heartbeat and provide electrical currents to the heart.
- The nerves that cause the heart to beat faster in reaction to physical or mental stress can also be cut during surgery. After the procedure, you have a significantly lower chance of experiencing risky cardiac rhythms due to stress or activity.
List of symptoms
Sensorineural hearing loss affects both ears,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild chest pain
List of conditions
Sensorineural hearing loss,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild chest pain,The cardiac muscle takes longer than usual to recharge between beats
List of Drugs
Lifestyle measures,Beta blockers,Implantation of a defibrillator
What are the risk factors for autosomal recessive long qt syndrome?
The likelihood of developing Autosomal recessive long-QT syndrome depends on a number of variables. If any of the following apply to you:
- You or a family member have a history of unexplained seizures, fainting spells, near-drownings, untimely deaths, or young-onset cardiac arrest.
- Autosomal recessive long-QT syndrome has been identified in a close cousin of yours.
- You are using drugs that have been linked to long QT syndrome.
- If your blood contains insufficient amounts of calcium, potassium, or magnesium.
- Autosomal recessive long-QT syndrome patients frequently go undiagnosed or receive a false diagnosis of seizure disorders. For a more accurate diagnosis, it is crucial to keep these major risk factors in mind.
- Mostly, the parents of a child with an Autosomal recessive long-QT syndrome are not affected but are carriers of one copy of the mutated gene.
- Inheritance of a double mutation in the gene affects the movement of potassium ions present in the heart's cell membranes and the inner ear.
List of symptoms
Sensorineural hearing loss affects both ears,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild chest pain
List of conditions
Sensorineural hearing loss,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild chest pain,The cardiac muscle takes longer than usual to recharge between beats
List of Drugs
Lifestyle measures,Beta blockers,Implantation of a defibrillator
Is there a cure/medications for autosomal recessive long qt syndrome?
Though medications won't cure Autosomal recessive long-QT syndrome, they can help protect against possible life-threatening heart rhythm changes.
- Diagnosis: A health care provider does a physical exam and asks questions about your symptoms and medical and family history. He may then use a stethoscope to listen to your heart for any irregular heartbeat.
- Tests: Tests can be done to check the heart's rhythm to confirm a diagnosis of Autosomal recessive long-QT syndrome.
- Cure: Lifestyle changes, medications, and surgery or other procedures are followed. Treatments can be provided to prevent erratic heartbeats and sudden death.
- Medications: Standard therapy like beta-blockers- nadolol (Corgard) and propranolol (Inderal LA, InnoPran XL) are provided for most patients to slow the heart rate and make long QT episodes. Mexiletine drugs can shorten the QT interval and reduce the risk of fainting, seizure, or sudden death when taken along with a beta-blocker.
List of symptoms
Sensorineural hearing loss affects both ears,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild chest pain
List of conditions
Sensorineural hearing loss,The hearing of high frequencies more than low frequencies,Low levels of iron and increased levels of gastrin,Partial or total loss of consciousness,Abnormally fast heart rhythms,Mild chest pain,The cardiac muscle takes longer than usual to recharge between beats
List of Drugs
Lifestyle measures,Beta blockers,Implantation of a defibrillator