Left ventricular noncompaction

If you have been diagnosed with left ventricular noncompaction, you should first set up appointments with a cardiologist, and have a clinical evaluation. You should also see a geneticist/genetic counselor to discuss genetic testing options. Genetic counselors can be found by visiting this link, and a cardiologist can be found by asking for a referral from your primary care doctor.

In order to find new clinical trials for left ventricular noncompaction, you can visit [link url="clinicaltrials.gov” target=”_blank”>clinicaltrials.gov. This website lists all of the completed and in-progress clinical trials for most disorders. You can search left ventricular noncompaction along with your country (or you can leave the country field blank, which will show you results for all countries) in order to see the list of trials. Any trial listed as "now recruiting" will have a link that will give all information for how to sign up.

The most common abbreviation for left ventricular noncompaction is LVNC. LVNC stands for Left Ventricular Noncompaction Cardiomyopathy.
Another abbreviation for it is LVHT, which stands for Left Ventricular Hypertrabeculation.

Genetic testing should be offered to anybody who has left ventricular noncompaction and to anybody who has it in their family.

A left ventricular noncompaction multigene panel that includes the genes listed below is most likely to identify the genetic cause of left ventricular noncompaction while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the symptoms.

Genes that may be included on the genetic testing panel:

If you have left ventricular noncompaction, there are several things you should consider in terms of a job:

Left ventricular noncompaction is a type of cardiomyopathy. Cardiomyopathy is any chronic disease of the heart muscle. There are many types of cardiomyopathies, including dilated, hypertrophic, and restrictive. Treatments, symptoms, and ages of onset vary depending on the type of cardiomyopathy. Once you have been diagnosed with a specific type, you can find a treatment that is best for you. To find a genetic counselor that can help you with diagnosis, click here.

There are no disease specific treatments for left ventricular noncompaction. Medical management varies depending on clinical manifestations, left ventricular ejection fraction (LVEF), the presence or absence of arrhythmias (abnormal heart beats), and the risk of thromboembolism (blood clots). Treatment is focused on treating associated types of heart muscle disease such as a thick heart muscle or poorly squeezing heart muscle. The primary goal is to improve cardiac function and to prevent symptoms. Medications are used to treat symptoms, reverse heart damage and to prevent ongoing damage to the heart muscle. If an individual has decreased heart function, they are at an increased risk for a clot to form in between the trabeculations (pieces of muscle that extend into the heart chamber). A blood thinner, such as aspirin, may be recommended for some individuals to prevent blood clots forming. The formation of a clot places an individual at risk for stroke or other organ damage that can occur if a clot leaves the heart.

Depending on the above factors, treatment might include: medications including diuretics, ACE inhibitors or Angiotensin II Receptor Blockers (ARBs), anticoagulants, and beta-blockers; an implantable cardioverter-defibrillator (ICD) or a pacemaker if an arrhythmia is present; and cardiac transplantation.

If cardiac function continues to worsen despite medications, a mechanical device may be necessary to help the heart pump and supply blood to the body. The device that would be used for young children would be the Berlin heart device. For older children and adults there are multiple devices that could be surgically placed to provide cardiac support. In some cases, if the condition is severe, a heart transplant may be considered.

There are several clinical trials happening for left ventricular noncompaction. You can use this link to go to the clinicaltrials.gov website, which is constantly updating with new clinical trials for different conditions.

If you have left ventricular noncompaction, it is recommended that you avoid competitive sports and strenuous physical activity. Competitive sports include those that require a significant amount of energy, for example: football, basketball, soccer, running, and even social games that you may not think are too strenuous. This is recommended because these sorts of activities may be associated with severe cardiac symptoms and possible sudden death.

If you have left ventricular noncompaction, these are some important questions to know the answer to when planing a vacation:

Some cardiomyopathies have their own specific driving standards. There are additional standards to meet if you experience particular symptoms (such as those related to arrhythmia or heart failure, for example palpitations, dizziness, loss of consciousness or other symptoms which affect safe driving) or if you have devices (such as a pacemaker or ICD). Check with your doctor to see if left ventricular noncompaction requires additional driving standards.

Sudden cardiac death is a risk for people who have left ventricular noncompaction. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure. Additionally, affected individuals may experience arrhythmias, blood clots, heart palpitations, extreme fatigue during exercise, shortness of breath, fainting, swelling of the legs, and trouble laying down flat. Some may have features of other heart defects.

Presentations can vary from person to person; someone may exhibit none, all, or few of the above symptoms.

The following disorders are related to left ventricular noncompaction:

If you have left ventricular noncompaction, it is recommended that you avoid competitive sports and strenuous physical activity. Competitive sports include those that require a significant amount of energy, for example: football, basketball, soccer, running, and even social games that you may not think are too strenuous. This is recommended because these sorts of activities may be associated with severe cardiac symptoms and possible sudden death.

What is a ‘healthy diet’ will vary from person to person, and for those people living with left ventricular noncompaction, and is influenced by many factors including age, gender, lifestyle and any additional factors such as illness or medical conditions. A healthy diet is also important for the health of the body’s vital organs – including the heart. A healthy diet can also help you to keep a healthy weight, which also help’s the heart to function at its best.

Being overweight can lead to high blood pressure and high cholesterol. It can increase your risk of type 2 diabetes and stroke.

Being overweight can also cause added strain on the heart and the lungs, and for a heart with left ventricular compaction cardiomyopathy this can cause additional pressure. It can also increase your risk of coronary heart disease. In general, healthy eating is about eating the right sorts of food, in the right amounts, to keep fit and healthy. It includes eating essential food groups, such as proteins, carbohydrates and fats as well as vitamin and minerals.

A variants is just another word for a change or mutation in a gene. A pathogenic variant in the gene associated with left ventricular noncompaction would be one that causes the condition. However, variants can be extra tricky if they are classified as variants of uncertain significance (VUS or VOUS for short). VUSs tend to be the most frustrating "answer" for people who have received genetic testing. If genetic testing comes back with a VUS in one of the gene that cause left ventricular noncompaction, this means that the laboratory has detected a change in the gene, but is unsure about what it means at the time. Often times, the doctor must call the laboratory every few years to learn if the VUS has been reclassified as pathogenic (disease causing) or benign (non disease causing). This often happens after more people have genetic testing and can show that they have the same change, and then their symptoms are compared with other people with the same change. Then, science can make an interpretation to determine if this change is causing a disorder or not.

If an individual has a VUS in a gene related to left ventricular noncompaction, however, doctors will often monitor and treat patients as if they have come back with a positive test result. This is so that doctors can remain on the safe side and make sure that patients are being monitored in case they do have this disorder. Individuals can also have a cardiology work up to see if they have any abnormal heart formations or heart beats. This can help doctors create the best treatment plan.

Salt is used to control fluid balance and blood pressure, as well as helping your muscles and nerves to work. However, high levels of salt also causes the body to retain water, which can increase the amount of fluid in the body and cause swelling. In cases of cardiomyopathy and left ventricular noncompaction this increases the workload on the heart and can contribute to high blood pressure which can be a risk factor for developing heart disease and strokes. Minimizing salt levels helps to reduce the risk of high blood pressure, heart disease and stroke.

There are several names for left ventricular noncompaction. These names are:

To find an experienced doctor who takes care of left ventricular noncompaction, you can ask your primary care doctor for a referral to a cardiologist. A cardiologist can help monitor your left ventricular noncompaction by doing routine echocardiograms, checking for arrhythmias, and monitoring your heart beats.

Left ventricular noncompaction is associated with several different genes. In up to 30% of cases, mutations in the MYH7 and MYBPC3 genes are the cause, and other gene mutations are responsible for a small percentage of other cases. Sometimes, the cause of left ventricular noncompaction may even be unknown. Genes that have been known to be associated with left ventricular noncompaction are:

Genetic testing through a panel that includes all left ventricular noncompaction genes is typically the only genetic testing option. However, in terms of a clinical evaluation, testing can include an echocardiogram and a physical exam.

The symptoms of left ventricular noncompaction vary from person to person. People with left ventricular noncompaction may live their whole lives without knowing that they even have it because they never exhibit any symptoms. However, symptoms can also be extreme. Sudden cardiac death is a risk for people who have left ventricular noncompaction. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure. Additionally, affected individuals may experience arrhythmias, blood clots, heart palpitations, extreme fatigue during exercise, shortness of breath, fainting, swelling of the legs, and trouble laying down flat. Some may have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood.

Health problems vary greatly from person to person in left ventricular noncompaction. Some people can live their whole lives without experiencing any symptoms, and some individuals experience sudden cardiac death. A range of symptoms are also part of this disorder, including blood clots, arrhythmia, heart palpitations, exercise intolerance, shortness of breath, fainting, swelling of the legs, and issues when laying down flat.

There are 5 different types of left ventricular noncompaction. These different types are labeled as types 1, 2, 7, 8, and 10. All types have the same presentation; the biggest difference in types is the genes associated with each type. Types are not specifically needed for proper diagnosis or for treatments.

Left ventricular noncompaction is a heart muscle disorder in which the lower left chamber of the heart, which is known as the left ventricle, is not correctly developed. The left ventricle is responsible for helping the heart pump blood. Normally, the left ventricle should be smooth and firm. In the case of left ventricular noncompaction, the left ventricle is thickened and appears spongy. This thickened, spongy texture causes an impairment where the heart is unable to pump blood properly because it cannot completely contract or relax as a normal heart would.

Symptoms of left ventricular noncompaction vary. Some people may have no symptoms at all, and others could have symptoms as severe as sudden cardiac death.

There are multiple support groups for people who have been diagnosed with left ventricular noncompaction. One of the biggest support groups for left ventricular noncompaction (as well as other cardiomyopathies) is Cardiomyopathy UK. This support group has plenty of information about left ventricular noncompaction, as well as links to other support groups.

If left ventricular noncompaction runs in your family, everybody in the family should be evaluated by a cardiologist and/or pursue genetic testing. Because there is a risk of cardiac death with this disorder, doctors take this family history very seriously and recommend testing for (at least) all first-degree family members as soon as a diagnosis in the family is made. Cardiovascular screening of asymptomatic first-degree family members of an individual with left ventricular noncompaction can allow early detection, prompt initiation of treatment, and improvement in long-term outcome.

If molecular genetic testing is not possible, the first-degree relatives of a person with left ventricular noncompaction should be evaluated annually by medical history, physical examination, and echocardiogram.

Because the age of onset is variable and symptoms may vary, a normal baseline echocardiogram in a first-degree relative who has not undergone molecular genetic testing does not rule out left ventricular noncompaction in that individual, and surveillance should be followed.

Left ventricular noncompaction is inherited in an autosomal dominant pattern. This means that you only need one copy of the non-working left ventricular noncompaction-associated gene in order to express traits of this disorder. It also means that somebody with this disorder has a 50% chance of passing on this disorder to each of his or her children. If your parent or sibling has been diagnosed with left ventricular noncompaction, you have a 50% chance of also having this disorder.

If you have been diagnosed with left ventricular noncompaction, you should first set up appointments with a cardiologist, and have a clinical evaluation. After the initial visit, your cardiologist will help make a plan for you to follow so that your health can be monitored. You should then follow the recommendations of your cardiologist, including returning for check ups with the cardiologist periodically. You should also discuss your diagnosis with family members. Because left ventricular noncompaction follows an inheritance pattern in which family members of an affected individual have a 50% chance of also having this disorder, family members should also be evaluated and/or have genetic testing to determine if they are also affected by this disorder.

There are not currently any states conducting newborn screening for left ventricular noncompaction specifically.

The most common genes associated with left ventricular noncompaction are MYH7 and MYBPC3. These genes provide instructions for the body to make proteins that are involved with structures in muscle fibers (these are called sarcomeres). Sarcomeres are needed for muscles to contract. Contractions in the heart are important because they help blood to be pumped throughout the body. If the heart cannot contract properly or stops contracting that can cause sudden cardiac death.
Other genes that are associated with left ventricular noncompaction are associated with certain signaling pathways as well as the formation and maintenance of the framework of heart muscle cells. They may also have to do with the regulation of the electrical signals that control the heartbeat. If the electrical signals of the heart are not regulated properly or "misfire" the heart can stop causing sudden cardiac death.

Left ventricular noncompaction is found in people around the world from all ethnic and racial backgrounds. There are more severe forms of left ventricular noncompaction that are seen more frequently in the Old Order Amish population, South Africa, and the the Netherlands. Otherwise, there are not other specific populations known to be more commonly affected than others.

Left ventricular noncompaction does not always cause symptoms to show in an affected person. Somebody with left ventricular noncompaction can live a long life and not even know that they have it. While some people may have arrhythmias (a type of irregular heartbeat), or heart palpitations, others may not. Additionally, some people may experience sudden cardiac death, while others never get a diagnosis. Sometimes, the first sign that left ventricular noncompaction is even running in a family is that someone will pass away from sudden cardiac death. At this point, a medical examiner will assist in genetic testing on the person who passed away, and if a disease-causing gene change or mutation is found that could be associated with this sudden cardiac death, family members can be tested to see if they also carry this gene change.

If someone has passed away in your family from sudden cardiac death, please speak with a genetic counselor in your area. You can find one using this link.

Left ventricular noncompaction is estimated to affect 8-12 per 1 million people every year. However, the incidence rate is probably higher than this estimate due to individuals being affected, but not being diagnosed because they do not show any symptoms throughout their life.

Left ventricular noncompaction is inherited in an autosomal dominant pattern. This means that you only need one copy of a non-working gene related to left ventricular noncompaction in order to express traits of this disorder. It also means that somebody with this disorder has a 50% chance of passing on this disorder to each of his or her children.

Left ventricular noncompaction may be familial, and not necessarily genetic. If there are no changes in any of the genes associated with left ventricular noncompaction but it still runs in the family, family members should be treated as if there is a change in the gene. This includes knowledge that there is a 50% chance that they could have this disorder as well.

The diagnosis of left ventricular noncompaction is based on the findings of left ventricular firmness/spongy texture with trabeculations. Trabeculations are pieces of muscle that extend into the chamber. These can be diagnosed with an echocardiogram, which uses ultrasound beams to evaluate the heart looking for dilated chambers and decreased pump function. An echocardiogram is the most common test used to diagnose this disorder, as the trabeculations within the left ventricle and overall squeeze of the heart can be measured with this test.

Furthermore, a thorough physical exam will be done to evaluate for signs of a cardiac problem. Assessment of skeletal muscle strength will be performed since problems with skeletal muscle may occur with cardiac muscle disease.

With these clinical tests in combination with genetic testing, a complete evaluation is fulfilled.

There are multiple support groups for people who have been diagnosed with left ventricular noncompaction including Cardiomyopathy UK. This support group has extensive information about left ventricular noncompaction, as well as links to other support groups.. Sometimes, you can ask your medical doctor and they can give you any resources they may have for local/online/international support groups. Facebook support groups that can also be easily found by searching "Left Ventricular Noncompaction" right in the Facebook search bar!

To get genetic testing for left ventricular noncompaction, a blood test is usually the easiest route for most genetic tests. Some labs may even require that a blood sample is collected. However, saliva may be an option as well. The most reliable option would be a blood test, because sometimes with saliva there can be issues collecting the DNA due to different reasons: you may have eaten too recently, you may not have given enough of a saliva sample, etc. You can discuss your concerns with your primary care doctor and talk about getting a referral to see a geneticist in order to begin the genetic testing process.

It is possible to still have left ventricular noncompaction without having a gene mutation in any of the genes associated with it. Because the field of genetics is still relatively new and cardio genetics is even newer, it is possible that science has not yet found all of the genes associated with left ventricular noncompaction. If a doctor had found that a left ventricle seems congruous with left ventricular noncompaction, it is possible to get diagnosed before genetic testing has been performed/even if no mutations have been discovered.

To get genetic testing, you can find a genetic counselor here.

You can have left ventricular noncompaction without having a known gene mutation. Because genetics is still a relatively new science, we are constantly learning more about it. We still don’t know EVERY disease-causing variant and/or gene that is associated with left ventricular noncompaction. With that being said, you can have left ventricular noncompaction with genetic testing that does not come back positive. Additionally, having a variant/mutation in one of these genes does not necessarily mean that you have left ventricular noncompaction. Variants can be good or bad. Think of it like baking an apple pie: if you replace red apples with green apples, it’s a change, but not enough to stop you from getting a delicious apple pie. However, if you replace sugar with salt, you’ll get an awfully salty apple pie, creating something that doesn’t taste quite right. If you have a change similar to this "apples to apples" change, then it can mean that you do not have left ventricular noncompaction even though you have a gene mutation.

If you have left ventricular noncompaction and cardiac function continues to worsen despite medications, a mechanical device may be necessary to help the heart pump and supply blood to the body. The device that would be used for young children would be the Berlin heart device. For older children and adults there are multiple devices that could be surgically placed to provide cardiac support. In some cases, if the condition is severe, a heart transplant may be considered.

There are not currently any nongenetic forms of left ventricular noncompaction; however, it is possible that someone may be discovered to have left ventricular noncompaction due to having a spongy left ventricle, but no genetic mutations found. This is because the field of genetics is still relatively new and cardiogenetics is even newer. It is possible that science has not yet found all of the genes associated with left ventricular noncompaction. In these cases, it would still be genetic, but the exact mutation would be unknown.

As well as being a leading cause of some cancers, and causing lung conditions, there are various ways in which smoking can affect the heart. This is true for patients living with left ventricular noncompaction.

Alcohol can have several negative effects on your heart. It can raise your heart rate and cause arrhythmias (abnormal heart rhythms), and increase your blood pressure. It can also cause damage to the muscle of the heart. For someone with left ventricular noncompaction cardiomyopathy whose heart is already under pressure and may be struggling to function normally, alcohol can add to this strain. For these reasons, it is advisable to minimize the amount of alcohol you drink.

Because left ventricular noncompaction is associated with sudden cardiac death as a possible symptom, you can die from left ventricular noncompaction. This symptom is not found in everybody who has been diagnosed, but it is a possibility. If you have been diagnosed, following up with and taking the medical recommendations made by your cardiologist are imperative.

There’s not much research on pregnancies in women with left ventricular noncompaction, but there is an article describing some cases where women gave birth without complications.

Medications are used to treat symptoms for left ventricular noncompaction, reverse heart damage and to prevent ongoing damage to the heart muscle. If an individual has decreased heart function, they are at an increased risk for a clot to form in between the trabeculations (pieces of heart muscle that extend into the heart chamber). A blood thinner, such as aspirin, may be recommended for some individuals to prevent blood clots forming. The formation of a clot places an individual at risk for stroke or other organ damage that can occur if a clot leaves the heart.

Depending on the above factors, treatment might include: medications including diuretics, ACE inhibitors or Angiotensin II Receptor Blockers (ARBs), anticoagulants, and beta-blockers; an implantable cardioverter-defibrillator (ICD) or a pacemaker if an arrhythmia is present; and cardiac transplantation.

One of the biggest support groups related to any type of cardiomyopathy (which is a category that left ventricular noncompaction falls into) is Cardiomyopathy UK. This charity’s website includes a lot of information about every type of cardiomyopathy, including left ventricular noncompaction. To donate to their charity, which will help people with cardiomyopathies, click here.

Patients living with left ventricular noncompaction should discuss all possible supplements such as Omega 3 with their doctor before taking them. Omega 3 is an essential fatty acid. Omega 3 has many benefits: it has anti-inflammatory properties, lowers levels of certain fats (called triglycerides) in the blood and helps with stiff and painful joints. It can also help to lower blood pressure (by dilating the blood vessels, making it easier for blood to flow).

Some research studies have shown that omega 3 is beneficial for people with dilated cardiomyopathy who have mild to moderate heart failure and are on standard treatment, as it improved the function of their left ventricle. However, these studies cannot confirm that taking omega 3 supplement will help everyone, and it is not a standard recommendation for people with cardiomyopathy.