A rare heart disease that is usually a congenital (present at birth) problem is called left ventricular non-compaction cardiomyopathy (LVNC). In people with this disorder, the lower left chamber of the heart does not develop properly, which negatively affects the heart’s ability to pump blood throughout the body efficiently.
In other words, LVNC causes the lower left ventricle of the heart to be spongy and thick, instead of firm and smooth. It happens because the spongy layer of the heart muscle is bigger than it should be. This abnormal tissue also has grooves or channels (also known as trabeculations). Moreover, these abnormalities are often detectable in diagnostic images of the heart.
Most of the time, problems with the lower left ventricle that pumps oxygen-rich blood from the lungs throughout the body negatively affect the heart’s function. For instance, people with LVNC often develop arrhythmias (irregular heart rhythms) or sudden cardiac death, especially if it is left untreated.
Generally, LVNC occurs rarely, and it affects about 12 in 1 million people each year. However, the real number of people with this congenital heart defect can be higher because most people do not have symptoms.
What Are The Symptoms of LVNC?
Sometimes, people with this condition do not have symptoms. However, the symptoms of this congenital heart defect range from mild to severe. Check some symptoms below:
- Dizziness
- Fainting
- Extreme tiredness (fatigue)
- Inability to engage in physical activities
- Heart palpitations
- Blood clots
- Stroke
- Leg swelling
- Shortness of breath (also known as dyspnea)
- Difficulty lying flat
Immediately contact your healthcare professional if you have any of the previous symptoms. Otherwise, it may lead to serious and even life-threatening health problems.
Causes and Risk Factors
People usually develop this heart disease due to a gene mutation (variation) that occurs randomly during pregnancy. In some cases, the abnormal gene that causes LVNC can be inherited from one or both biological parents.
Furthermore, this disorder also has some associations with other types of congenital heart disease and cardiomyopathy, and some genetic syndromes (including Fabry disease), or neuromuscular disorders. Sometimes, these genetic mutations can cause left ventricular non-compaction. In normal circumstances, genes that cause this disorder are involved in the production of cardiac proteins. Mostly, genetic tests can confirm or rule out the presence of these abnormal genes.
In addition, LV non-compaction is not always genetic. Sometimes, people can develop LVNC without an obvious reason during their first pregnancy. According to some experts, it happens because pregnancy puts extra strain on the heart muscle. Rarely, people who suffer from sickle cell anemia or athletes can also have an extra non-compacted muscle.
While anyone can develop LVNC, physicians have identified some factors that may increase your risk. Check some of them below:
- Barth syndrome
- Becker muscular dystrophy
- Danon disease
- Fabry disease
- Roifman syndrome
- Noonan syndrome
- Toricello-Carey syndrome
- Duchenne muscular dystrophy
What Happens if LVNC is Left Untreated?
People with LVNC may also experience some complications, especially if they do not have symptoms or leave it untreated. Some examples are listed below:
- Heart failure – This is one of the most common complications in people with LVNC. It happens when the heart is weak and cannot pump blood properly. It often causes the following symptoms. These include dyspnea, fatigue, and leg swelling.
- Arrhythmia – The congenital structural changes often cause this complication. It may also lead to atrial fibrillation (AFib) and tachycardia (fast heart rate).
- Sudden cardiac arrest – This is a fatal complication that, without immediate treatment, may lead to death.
- Thromboembolic events (such as stroke) – LVNC can cause blood clots that can travel to the brain and cause a stroke. It may also lead to a transient ischemic attack (TIA), heart attack (also known as myocardial infarction), and other problems.
- Congenital heart defects – Commonly, this disorder is associated with other co-existing heart defects, including valvular problems, ventricular septal defects, and others.
This article does not contain a full list of complications. In any case, doctors may help you reduce the risk or even prevent them. In addition, there is no way to prevent or reduce the risk of LVNC because the exact cause is unknown.
Diagnosis
First, doctors will perform a physical examination to check for irregularities linked to the disease. They may also ask some questions about the symptoms and medical history to gather more information about your disease. However, to exclude or confirm this congenital heart defect, doctors often perform the following tests. Examples include:
- Imaging tests – These tests are used to get detailed images of different structures and organs in the body. Physicians often perform cardiac CT (computerized tomography) scans and MRI (magnetic resonance imaging) scans to examine the heart’s structure.
- Electrocardiogram (ECG or EKG) – This is a quick and painless test that is often used to measure the electrical activity of the heart. Commonly, it helps detect arrhythmias.
- Echocardiograms – This test is used to check how well your heart muscle is working.
- Coronary angiograms – Doctors usually perform this test to see how the blood flows through the heart and its arteries.
Treatment
Unfortunately, there is no way to cure this condition. That’s why the treatment goal is to ease the symptoms, reduce the risk of life-threatening complications, and improve your quality of life. This condition is reversible only when it happens because of pregnancy, sickle cell anemia, or strenuous physical activity. Check below some treatment options often recommended by doctors for people with LVNC:
Medications
These include:
- Blood thinners (also known as anticoagulants) – This group of medications is prescribed by doctors to prevent or treat blood clots.
- Antiarrhythmics – These medications are used to prevent or treat irregular heart rhythms.
- Antihypertensives – Doctors usually recommend these medicines to open blood vessels and get rid of excess salt and fluid.
Procedures
If this disorder is found in more advanced stages, physicians may recommend the following treatment options. These include an implantable cardioverter defibrillator (ICD), a pacemaker (to maintain a normal heart rhythm), or a heart transplant.
Generally, the recovery time varies among people with LVNC. For instance, in more severe cases, you may stay for a few days to weeks in the hospital (especially after a heart transplant).
Frequently Asked Questions
How serious is LVNC?
This is a very serious health condition that, without treatment, may lead to blood clots, heart failure, arrhythmia, and other life-threatening conditions. Immediately contact your doctor if you have symptoms that resemble LVNC.
Is LVNC a birth defect?
Yes, this is a congenital (present at birth) type of cardiomyopathy in which the lower left ventricle of the heart does not develop during pregnancy.
What is the life expectancy of a person with cardiomyopathy?
Usually, the life expectancy varies among people, and it is often based on the type and severity of the condition and your response to treatment. In general, the average 5-year survival rate is 50%, according to a 2019 study.
Can left ventricular non-compaction cardiomyopathy run in families?
In many cases, LVNC is linked to genetic mutations that can be inherited from one or both biological parents. Because of this, doctors may recommend genetic counseling and screening for close family members if someone is diagnosed with LVNC.
Can children develop symptoms of LVNC?
Yes. Although LVNC is present at birth, symptoms can appear during infancy, childhood, adolescence, or adulthood. Some children experience heart failure, arrhythmias, or growth problems, while others may remain symptom-free for years.
Can people with LVNC exercise?
Many people with LVNC can participate in physical activity, but the type and intensity of exercise should be determined by a healthcare provider. Strenuous exercise may increase the risk of complications in some individuals, especially those with arrhythmias or reduced heart function.
Is LVNC the same as heart failure?
No. LVNC is a structural heart condition, while heart failure is a potential complication of LVNC. Some people with LVNC never develop heart failure, while others may experience progressive weakening of the heart muscle over time.
How often should someone with LVNC see a cardiologist?
The frequency of follow-up visits depends on the severity of the condition and the presence of symptoms. Many people with LVNC require regular monitoring with physical examinations, imaging tests, and heart rhythm evaluations to detect changes early.
Can pregnancy affect people with LVNC?
Yes. Pregnancy places additional strain on the heart and may worsen symptoms in some people with LVNC. Women with this condition should consult both a cardiologist and an obstetric specialist before becoming pregnant and throughout pregnancy.
What lifestyle changes may help people with LVNC?
Doctors may recommend maintaining a heart-healthy diet, avoiding tobacco products, limiting alcohol intake, staying physically active within safe limits, managing blood pressure, and taking prescribed medications as directed. These measures may help support heart function and reduce the risk of complications. If you have any other questions, ask your healthcare provider.
