Condition
Left ventricular noncompaction
This condition has the following symptoms:
Shortness of breathFatigueSwelling in the legs and feetHeart palpitationsChest painDizziness or faintingOverview
Left ventricular noncompaction (LVNC) is a rare heart condition where the muscle in the left ventricle, the heart's main pumping chamber, appears spongy instead of smooth and solid. Symptoms can include shortness of breath, fatigue, and irregular heartbeats, and they may develop at any age, though the condition is often diagnosed in children and young adults. The severity and progression of symptoms can vary widely, with some individuals experiencing mild symptoms and others facing more serious complications like heart failure. Mortality risk is increased in severe cases, especially if left untreated, but many people manage the condition with medications, lifestyle changes, and sometimes surgical interventions like implantable devices. Regular monitoring by a healthcare professional is crucial to manage the condition effectively.
Short Overview
Symptoms
Left ventricular noncompaction can cause shortness of breath, especially during physical activity or when lying down, due to the heart's difficulty in pumping enough blood. Individuals may experience fatigue, feeling unusually tired or weak even after adequate rest, as a result of the heart's reduced efficiency. Swelling in the legs and feet can occur because of fluid retention linked to the heart's inability to pump blood effectively. Heart palpitations, characterized by rapid or irregular heartbeats, may be present and can indicate issues with heart rhythm. Chest pain and dizziness or fainting may also occur, with chest pain arising from insufficient oxygen-rich blood reaching the heart muscle, and dizziness or fainting resulting from reduced blood flow to the brain.
Outlook and prognosis
The outlook for individuals with Left ventricular noncompaction varies widely, depending on the severity of the condition and the presence of symptoms. Some people may experience no symptoms and lead normal lives, while others may face complications such as heart failure or arrhythmias, requiring medical management. Regular monitoring and appropriate treatment can help manage symptoms and improve quality of life.
Causes and Risk Factors
Genetic mutations that disrupt heart muscle development during fetal growth are the primary cause of this condition, and these mutations can be passed down from parents, making family history a key risk factor. It can also occur sporadically without a family link, and certain genetic syndromes or conditions affecting heart structure and function may increase risk. Environmental factors during pregnancy, like maternal health and nutrition, might contribute, though their exact influence is not fully understood.
Genetic influences
Genetic factors play a significant role in the development of Left ventricular noncompaction, with many cases linked to variations in specific genes that affect heart muscle formation. These genetic variations can be inherited, meaning they are passed down from parents to children, which can increase the risk of developing the condition within families. Research has identified several genes associated with the condition, highlighting the importance of genetic testing for at-risk individuals. Understanding these genetic influences can aid in early diagnosis and management, potentially improving outcomes for those affected.
Diagnosis
Diagnosis involves using an echocardiogram to visualize the heart's structure and identify characteristic features, often as the initial test. If results are unclear, a cardiac MRI provides detailed images to confirm the presence of noncompacted muscle. An electrocardiogram may detect irregular heart rhythms, while genetic testing and family history evaluation help understand hereditary aspects.
Treatment and Drugs
Treatment for Left ventricular noncompaction often involves managing symptoms and preventing complications. Medications such as beta-blockers, ACE inhibitors, anticoagulants, diuretics, and antiarrhythmics are commonly used to improve heart function, control heart rhythm, and prevent blood clots. The choice of medication depends on the specific symptoms and needs of the patient.
Symptoms
Left ventricular noncompaction can lead to a variety of symptoms that affect the heart's ability to function properly. These symptoms can vary widely among individuals and may range from mild to severe. Some people may not experience any symptoms at all, while others may have significant health issues. The symptoms are often related to the heart's reduced ability to pump blood effectively.
Shortness of breath: This symptom occurs when the heart struggles to pump enough blood to meet the body's needs, leading to difficulty breathing, especially during physical activity or when lying down.
Fatigue: Individuals may feel unusually tired or weak, even after getting enough rest, due to the heart's reduced efficiency in circulating blood.
Swelling in the legs and feet: Fluid retention can occur as a result of the heart's inability to pump blood effectively, leading to swelling, particularly in the lower extremities.
Heart palpitations: Some individuals may experience a sensation of rapid or irregular heartbeats, which can be unsettling and may indicate an underlying issue with heart rhythm.
Chest pain: This can occur if the heart muscle is not receiving enough oxygen-rich blood, leading to discomfort or pain in the chest area.
Dizziness or fainting: Reduced blood flow to the brain can cause dizziness or even fainting spells, which may be a sign of a more serious heart condition.
How people usually first notice
Individuals may first notice symptoms such as shortness of breath, fatigue, or swelling in the legs and feet. Some may experience palpitations or an irregular heartbeat. In certain cases, dizziness or fainting spells can also occur.
Types of Left ventricular noncompaction
Left ventricular noncompaction can present in various forms, each with distinct symptoms. These variations can affect individuals differently, leading to a range of clinical manifestations. Understanding these types is crucial for recognizing the condition's impact on heart function. The symptoms can vary significantly depending on the specific type of noncompaction.
Isolated Left Ventricular Noncompaction
This type primarily affects the left ventricle without involving other heart structures. Symptoms may include fatigue, shortness of breath, and palpitations. Some individuals may remain asymptomatic for years.
Left Ventricular Noncompaction with Dilated Cardiomyopathy
This variation involves both noncompaction and an enlarged heart chamber. Symptoms often include severe fatigue, swelling of the legs, and difficulty breathing. It can lead to heart failure if not managed properly.
Left Ventricular Noncompaction with Hypertrophic Cardiomyopathy
In this type, the heart muscle is abnormally thickened along with noncompaction. Symptoms may include chest pain, dizziness, and fainting spells. It can increase the risk of sudden cardiac arrest.
Left Ventricular Noncompaction with Restrictive Cardiomyopathy
This form is characterized by stiff heart walls in addition to noncompaction. Symptoms often include shortness of breath, fatigue, and fluid retention. It can lead to complications such as arrhythmias.
Did you know?
Certain genetic variations can lead to symptoms like shortness of breath and irregular heartbeats in individuals with Left ventricular noncompaction. These variations affect heart muscle development, causing the heart to pump less effectively.
Dr. Wallerstorfer
Causes and Risk Factors
Left ventricular noncompaction is primarily caused by genetic mutations that affect the development of the heart muscle during fetal growth. These genetic changes can be inherited from one or both parents, making family history a significant risk factor. In some cases, the condition may occur sporadically without a clear familial link. Additional risk factors include certain genetic syndromes and conditions that affect the heart's structure and function. Environmental factors during pregnancy, such as maternal health and nutrition, may also play a role, although the exact impact is less well understood.
Environmental and Biological Risk Factors
Left ventricular noncompaction is influenced by various environmental and biological factors. These factors can affect the heart's development and function, potentially leading to complications. Understanding these influences can help in managing and potentially mitigating the risks associated with this condition.
Prenatal Exposure to Infections: Infections during pregnancy, such as rubella or cytomegalovirus, can impact the developing heart of the fetus. These infections can interfere with normal heart development, potentially leading to structural abnormalities. Preventive measures, like vaccinations, can reduce these risks.
Maternal Diabetes: Diabetes in the mother during pregnancy can affect the heart development of the fetus. High blood sugar levels can lead to improper formation of the heart's structure. Proper management of diabetes during pregnancy is crucial to minimize these risks.
Nutritional Deficiencies: Lack of essential nutrients during pregnancy can impact fetal heart development. Deficiencies in vitamins and minerals, such as folic acid, can lead to developmental issues. Ensuring a balanced diet during pregnancy is important for fetal health.
Exposure to Teratogens: Teratogens are substances that can cause developmental abnormalities in a fetus. Exposure to certain drugs, alcohol, or chemicals during pregnancy can affect heart development. Avoiding these substances is important to reduce the risk of heart abnormalities.
Genetic Risk Factors
Left ventricular noncompaction is a condition influenced by genetic factors, often involving mutations in specific genes. These genetic mutations can affect the structure and function of the heart muscle. The condition is typically inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene can cause the disorder. Genetic testing can help identify these mutations, aiding in diagnosis and family planning.
MYH7 gene mutation: Mutations in the MYH7 gene, which provides instructions for making a protein essential for heart muscle contraction, are linked to left ventricular noncompaction. These mutations can disrupt normal heart muscle function, leading to the condition. MYH7 mutations are one of the most common genetic causes of this disorder.
TTN gene mutation: The TTN gene is responsible for producing a protein called titin, which helps maintain the structure of heart muscle cells. Mutations in this gene can lead to structural abnormalities in the heart, contributing to left ventricular noncompaction. TTN mutations are frequently observed in individuals with this condition.
LMNA gene mutation: The LMNA gene encodes proteins that provide structural support to the cell nucleus. Mutations in LMNA can affect heart muscle cells, leading to various cardiac conditions, including left ventricular noncompaction. These mutations can also be associated with other heart-related issues.
TAZ gene mutation: Mutations in the TAZ gene, which is involved in energy production within cells, can lead to left ventricular noncompaction. These mutations can impair the heart's ability to function efficiently. TAZ gene mutations are also linked to other metabolic disorders.
ACTC1 gene mutation: The ACTC1 gene provides instructions for making a protein that is part of the heart muscle's contractile apparatus. Mutations in this gene can disrupt normal heart muscle contraction, contributing to left ventricular noncompaction. ACTC1 mutations are less common but still significant in the development of this condition.
Dr. Wallerstorfer
Lifestyle Risk Factors
Lifestyle factors can play a role in the management and progression of Left ventricular noncompaction. While genetic and environmental factors are primary contributors, certain lifestyle choices may influence heart health and potentially impact the condition. Maintaining a healthy lifestyle can support overall cardiovascular health and may help mitigate some risks associated with this condition. It is important to consider dietary habits, physical activity, and other lifestyle factors when managing heart health.
Poor Diet: A diet high in saturated fats, trans fats, and cholesterol can contribute to heart disease, which may exacerbate heart conditions. Consuming excessive amounts of salt can lead to high blood pressure, putting additional strain on the heart. A balanced diet rich in fruits, vegetables, and whole grains is recommended for heart health.
Lack of Exercise: Physical inactivity can lead to obesity and other health issues that strain the heart. Regular exercise helps maintain a healthy weight and improves cardiovascular fitness. Engaging in moderate physical activity, such as walking or cycling, is beneficial for heart health.
Smoking: Smoking is a major risk factor for heart disease and can worsen heart conditions. It damages blood vessels and reduces the amount of oxygen that reaches the heart. Quitting smoking can significantly improve heart health and reduce risks.
Excessive Alcohol Consumption: Drinking too much alcohol can lead to high blood pressure and heart disease. It can also cause irregular heartbeats and weaken the heart muscle over time. Limiting alcohol intake is important for maintaining heart health.
Stress: Chronic stress can contribute to heart disease by increasing blood pressure and heart rate. Stress management techniques, such as meditation or yoga, can help reduce its impact on the heart. Finding healthy ways to cope with stress is crucial for heart health.
Risk Prevention
Preventing or reducing the risk of Left ventricular noncompaction involves focusing on maintaining a healthy heart and lifestyle. While genetic factors play a significant role, lifestyle choices can also impact heart health. Regular check-ups and monitoring can help in early detection and management of potential heart issues.
Healthy Diet: Consuming a balanced diet rich in fruits, vegetables, whole grains, and lean proteins supports heart health. Reducing the intake of saturated fats, trans fats, and cholesterol can help prevent heart-related issues. Limiting salt and sugar intake is also beneficial.
Regular Exercise: Engaging in regular physical activity strengthens the heart and improves circulation. Activities such as walking, swimming, or cycling for at least 150 minutes a week are recommended. Exercise helps in maintaining a healthy weight and reducing stress.
Avoid Smoking: Smoking is a major risk factor for heart disease. Quitting smoking can significantly improve heart health and reduce the risk of developing heart conditions. Avoiding exposure to secondhand smoke is also important.
Manage Stress: Chronic stress can negatively affect heart health. Techniques such as meditation, yoga, or deep breathing exercises can help manage stress levels. Ensuring adequate sleep and relaxation time is also crucial.
Regular Health Check-ups: Routine medical check-ups can help in early detection of heart-related issues. Monitoring blood pressure, cholesterol levels, and heart function is important. Early intervention can prevent complications and improve outcomes.
How effective is prevention?
Preventing or reducing the risk of Left ventricular noncompaction involves focusing on maintaining a healthy heart and lifestyle. While genetic factors play a significant role, lifestyle choices can also impact heart health. Regular check-ups and monitoring can help in early detection and management of potential heart issues.
Transmission
Left ventricular noncompaction is not an infectious condition and cannot be transferred from person to person like a cold or flu. It is a genetic disorder, meaning it is passed down through families via genes. The condition can be inherited in an autosomal dominant pattern, where a single copy of the altered gene from one parent can cause the disorder. In some cases, it may also occur sporadically due to new genetic changes that are not inherited. Genetic counseling is often recommended for families affected by this condition to understand the risks and implications.
When to test your genes
Genetic testing is recommended if there is a family history of certain diseases, unexplained symptoms, or if a healthcare provider suggests it for personalized treatment. Testing can help identify risks for inherited conditions and guide preventive measures. Always consult a healthcare professional before proceeding with genetic testing.
Dr. Wallerstorfer
Diagnosis
Diagnosing this condition involves a combination of imaging techniques and clinical evaluations. These methods help in assessing the structure and function of the heart. The diagnosis is often confirmed through a detailed analysis of the heart's anatomy and its pumping efficiency.
Echocardiogram: An echocardiogram uses sound waves to create images of the heart. It helps in visualizing the heart's structure and identifying the characteristic trabeculations associated with the condition. This is often the first test performed when the condition is suspected.
Cardiac MRI: Cardiac MRI provides detailed images of the heart using magnetic fields and radio waves. It offers a clearer view of the heart's anatomy and can confirm the presence of noncompacted muscle. This test is particularly useful if the echocardiogram results are inconclusive.
Electrocardiogram (ECG): An ECG records the electrical activity of the heart. It can detect irregular heart rhythms that may be associated with the condition. While not definitive on its own, it provides supportive information for the diagnosis.
Genetic Testing: Genetic testing may be conducted to identify mutations associated with the condition. This can be particularly useful in families with a history of the condition. It helps in understanding the hereditary nature of the disorder.
Family History Evaluation: Evaluating the family history can provide insights into the genetic predisposition to the condition. A detailed family history can guide further genetic testing and risk assessment. This step is crucial in understanding the potential hereditary aspects.
Stages of Left ventricular noncompaction
The progression of Left ventricular noncompaction can be categorized into distinct stages based on the severity of the condition and its impact on heart function. These stages help in understanding how the condition develops over time and the potential symptoms that may arise. Early detection and monitoring are crucial for managing the condition effectively. Treatment strategies may vary depending on the stage and severity.
Stage 1: Early or Asymptomatic Stage
In this stage, individuals may not exhibit any noticeable symptoms. The heart's structure begins to show signs of noncompaction, but it does not significantly affect heart function. Regular monitoring is essential to detect any progression.
Stage 2: Mild Symptoms Stage
Symptoms such as fatigue, shortness of breath, or mild chest discomfort may start to appear. The heart's pumping ability may be slightly reduced. Medical evaluation is recommended to assess the condition's impact.
Stage 3: Moderate Symptoms Stage
Symptoms become more pronounced and may include palpitations, dizziness, or more significant shortness of breath. The heart's function is moderately impaired, affecting daily activities. Medical intervention may be necessary to manage symptoms.
Stage 4: Severe Symptoms Stage
Severe symptoms such as heart failure, significant fatigue, and difficulty breathing occur. The heart's ability to pump blood is greatly reduced, leading to serious health concerns. Intensive medical treatment or surgical options may be considered.
Did you know about genetic testing?
Genetic testing can identify specific gene mutations associated with Left ventricular noncompaction, allowing for early diagnosis and personalized treatment plans. Early detection through genetic testing can help manage symptoms more effectively and reduce the risk of complications. Additionally, it provides valuable information for family members who may also be at risk, enabling proactive monitoring and intervention.
Dr. Wallerstorfer
Outlook and Prognosis
The outlook for individuals with left ventricular noncompaction can vary widely depending on the severity of the condition and the presence of symptoms. Some individuals may experience no symptoms and lead normal lives, while others may develop complications that require medical attention. The condition can lead to heart failure, arrhythmias, or blood clots, which can significantly impact quality of life and overall health. Regular monitoring and medical management are crucial for those diagnosed with this condition to help prevent or manage these complications.
The prognosis can be more challenging for those who develop heart failure or significant arrhythmias, as these can increase the risk of serious health events. In some cases, individuals may require medications, lifestyle changes, or even surgical interventions to manage symptoms and improve heart function. The risk of mortality can be higher in individuals with severe symptoms or complications, but with appropriate medical care, many can manage the condition effectively.
Advancements in medical treatments and interventions have improved the outlook for many individuals with this condition. Early diagnosis and personalized treatment plans are key factors in improving outcomes. Genetic counseling may be recommended for families, as the condition can have a hereditary component. Overall, while the condition can pose significant health challenges, ongoing medical care and monitoring can help manage symptoms and improve quality of life.
Long Term Effects
Left ventricular noncompaction can lead to a variety of long-term health issues due to its impact on heart function. These effects can significantly influence a person's quality of life and may require ongoing medical management. The condition can lead to complications that affect the heart's ability to pump blood effectively, potentially resulting in serious health concerns.
Heart Failure: Heart failure is a common long-term effect where the heart cannot pump blood efficiently, leading to fatigue, shortness of breath, and fluid retention.
Arrhythmias: Irregular heartbeats, or arrhythmias, can occur, which may cause palpitations, dizziness, or fainting. These irregularities can sometimes be life-threatening.
Thromboembolism: The risk of blood clots forming in the heart increases, which can travel to other parts of the body and cause blockages, potentially leading to strokes or other serious complications.
Sudden Cardiac Arrest: There is an increased risk of sudden cardiac arrest, a condition where the heart suddenly stops beating, which can be fatal if not treated immediately.
Reduced Exercise Capacity: Individuals may experience a decreased ability to exercise or perform physical activities due to the heart's reduced efficiency in pumping blood.
How is it to live with Left ventricular noncompaction?
Living with Left ventricular noncompaction can involve managing symptoms such as fatigue, shortness of breath, and irregular heartbeats, which may affect daily activities and require regular medical check-ups. Individuals might need to adjust their lifestyle, including diet and exercise, to accommodate their condition and prevent complications. Family members and friends may need to provide emotional support and assist with healthcare management, which can impact their routines and responsibilities. The condition may also necessitate discussions about genetic implications, as it can run in families, prompting relatives to consider genetic counseling or testing.
Treatment and Drugs
Treatment for Left ventricular noncompaction often involves managing symptoms and preventing complications. Medications are used to improve heart function, control heart rhythm, and prevent blood clots. The choice of medication depends on the specific symptoms and needs of the patient. Common treatments include beta-blockers to slow the heart rate, ACE inhibitors to relax blood vessels, anticoagulants to prevent clots, diuretics to remove excess fluid, and antiarrhythmics to control irregular heartbeats. In some cases, lifestyle changes and regular monitoring by a healthcare provider are also recommended to manage the condition effectively.
Non-Drug Treatment
Non-pharmacological treatments for Left ventricular noncompaction focus on lifestyle modifications and supportive therapies to manage symptoms and improve quality of life. These approaches are often used in conjunction with medical treatments to provide comprehensive care. They aim to enhance heart function, reduce symptoms, and prevent complications. The following are some common non-drug treatments and therapies used in managing this condition.
Lifestyle Modifications: Patients are encouraged to adopt a heart-healthy lifestyle, which includes a balanced diet, regular physical activity, and avoiding smoking and excessive alcohol consumption. These changes can help improve overall heart health and reduce the risk of complications.
Cardiac Rehabilitation: This is a structured program that includes exercise training, education on heart-healthy living, and counseling to reduce stress. It is designed to improve cardiovascular health and enhance the patient's ability to perform daily activities.
Regular Monitoring: Frequent check-ups with a healthcare provider are essential to monitor heart function and detect any changes early. This allows for timely adjustments in treatment plans to better manage the condition.
Psychosocial Support: Counseling and support groups can help patients cope with the emotional and psychological impact of living with a chronic heart condition. This support can improve mental well-being and quality of life.
Did you know that drugs are influenced by genes?
Genetic variations can affect how individuals respond to medications used for treating Left ventricular noncompaction, influencing drug effectiveness and potential side effects. Personalized treatment plans may be developed by considering these genetic factors to optimize patient outcomes.
Dr. Wallerstorfer
Pharmacological Treatments
Treatment for Left ventricular noncompaction often involves managing symptoms and preventing complications. Medications are used to improve heart function, control heart rhythm, and prevent blood clots. The choice of medication depends on the specific symptoms and needs of the patient. Here are some common pharmacological treatments used in managing this condition.
Beta-blockers: These medications help slow down the heart rate and reduce blood pressure, which can improve heart function and reduce symptoms.
ACE inhibitors: These drugs help relax blood vessels, making it easier for the heart to pump blood and reducing the strain on the heart.
Anticoagulants: These medications are used to prevent blood clots, which can be a risk due to the heart's impaired function.
Diuretics: These drugs help remove excess fluid from the body, reducing the workload on the heart and alleviating symptoms like swelling.
Antiarrhythmics: These medications help control irregular heartbeats, which can be a symptom of the condition.
Genetic Influences
Genetics play a significant role in the development of Left ventricular noncompaction, a condition affecting the heart's structure. This condition is often linked to changes or mutations in specific genes that are crucial for heart development. These genetic changes can be inherited from one or both parents, indicating a familial pattern. Several genes have been associated with this condition, many of which are also involved in other heart-related disorders. The presence of these genetic mutations can disrupt normal heart muscle formation, leading to the characteristic appearance of the heart muscle in this condition. Genetic testing can help identify these mutations, providing valuable information for diagnosis and family planning. Understanding the genetic basis of this condition is essential for developing targeted treatments and managing the condition effectively.
Gene variations
Genetic variations play a significant role in influencing the risk and severity of Left ventricular noncompaction. These variations can affect the heart's structure and function, leading to different outcomes in individuals. Understanding these genetic influences can help in identifying at-risk individuals and tailoring treatment strategies.
MYH7 gene mutations: Mutations in the MYH7 gene, which encodes a protein essential for heart muscle contraction, are linked to Left ventricular noncompaction. These mutations can disrupt normal heart muscle function, increasing the risk of developing the condition. Individuals with these mutations may experience more severe symptoms.
TTN gene mutations: The TTN gene provides instructions for making a protein that contributes to the elasticity of heart muscle. Mutations in this gene can lead to structural abnormalities in the heart, influencing the severity of Left ventricular noncompaction. Such mutations are often associated with a higher risk of heart failure.
LMNA gene mutations: Mutations in the LMNA gene, responsible for producing proteins that maintain the structure of the cell nucleus, are associated with Left ventricular noncompaction. These genetic changes can lead to a weakened heart muscle and increased risk of arrhythmias. Individuals with LMNA mutations may require more intensive monitoring and management.
TAZ gene mutations: The TAZ gene is involved in energy production within heart cells. Mutations in this gene can impair energy metabolism, contributing to the development and severity of Left ventricular noncompaction. Such mutations are often linked to additional symptoms, including muscle weakness and growth delays.
Genetic heterogeneity: Left ventricular noncompaction exhibits genetic heterogeneity, meaning it can be caused by mutations in various genes. This diversity in genetic causes can result in a wide range of symptoms and disease severity. Identifying the specific genetic mutation can aid in personalized treatment approaches.
Variant Table Legend
Clinical Testing
Scientific Studies
Biological Male Symbol
Biological Female Symbol
Unisex Symbol for both Genders
Variants that influence Left ventricular noncompaction
Variants can be classified either based on clinical tests or scientific studies. In the classification based on clinical tests, the variants are divided into five categories from Disease Causing (harmful) to No Effect (not harmful). This classification is based on family histories, laboratory tests and computer predictions and is intended to help doctors make medical decisions. The aim is to recognize the immediate health impact of variants on the human body. Classification based on scientific studies, however, is about understanding the long-term effects. It aims to identify the influence of genetic variants in conditions, traits, and evolution. Variants are classified into different categories based on their functional impact: Loss-of-Function (reduced gene activity), Gain-of-Function (increased gene activity), Neutral (no significant impact) and Evolutionary Conservation. This classification uses experimental data, population studies, and computational analyses.
Genotype
A
A
Level of evidence
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters A/A is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
C
C
Level of evidence
No Effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/C is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
A
C
Level of evidence
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters A/C is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
A
A
Level of evidence
Likely disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters A/A is considered likely disease causing. This means that the scientific evidence is still somewhat unclear about its effect. Carriers of this genetic result are often affected by the disease.
Genotype
G
G
Level of evidence
No Effect
Unisex
1 Sources
Participants: 0
The genotype with the letters G/G is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
A
G
Level of evidence
Likely disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters A/G is considered likely disease causing. This means that the scientific evidence is still somewhat unclear about its effect. Carriers of this genetic result are often affected by the disease.
Genotype
C
C
Level of evidence
No Effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/C is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
T
T
Level of evidence
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters T/T is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
C
T
Level of evidence
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters C/T is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Variants that influence Left ventricular noncompaction
All variants that were shown to influence the risk of developing Left ventricular noncompaction are listed here.
Genes that influence Left ventricular noncompaction
All Genes that contain variants, which were shown to influence the risk of developing Left ventricular noncompaction are listed here
Pharmacogenetics — how genetics influence drug effects
Genetics play a significant role in the treatment of left ventricular noncompaction, as the condition is often linked to specific genetic mutations. Identifying these mutations can help healthcare providers tailor treatment plans to the individual's genetic profile. For instance, certain genetic variations may influence how a patient responds to medications used to manage symptoms, such as those that help the heart pump more effectively or control heart rhythm. Understanding a patient's genetic background can also guide decisions about the use of devices like pacemakers or defibrillators, which may be necessary if there is a risk of heart rhythm problems. Genetic information can further aid in assessing the risk of the condition in family members, allowing for early monitoring and intervention if needed.
Drugs influenced by genetics
Dr. Wallerstorfer
Interactions with other diseases
Left ventricular noncompaction can interact with various other health conditions, particularly those affecting the heart and muscles. It is often associated with heart rhythm problems, which can lead to irregular heartbeats. Additionally, it may coexist with heart failure, where the heart struggles to pump blood effectively. Some individuals with this condition may also experience issues related to the heart's electrical system, potentially leading to sudden cardiac arrest. There is also a noted connection with genetic disorders that affect the muscles, such as muscular dystrophies, which can compound the challenges faced by individuals with this condition. Furthermore, it may be seen alongside congenital heart defects, which are structural problems present from birth. These interactions can complicate the management and treatment of the condition, requiring a comprehensive approach to care.
Special life conditions
In pregnancy, individuals with left ventricular noncompaction may experience increased symptoms due to the additional strain on the heart from increased blood volume. Older adults might face a higher risk of heart failure or arrhythmias as the heart muscle becomes less efficient with age. In children, the condition can manifest as difficulty in keeping up with peers during physical activities or may be detected during routine check-ups if symptoms are subtle. Active athletes might notice decreased exercise tolerance or unusual fatigue, as the heart struggles to meet the demands of intense physical exertion. Each of these life conditions can influence the severity and management of the condition, necessitating tailored medical care and monitoring.
History
Left ventricular noncompaction (LVNC) was first identified as a distinct heart condition in the late 20th century. The initial recognition of this condition is credited to the advancements in cardiac imaging technologies, particularly echocardiography, which allowed for detailed visualization of the heart's structure. In 1984, researchers began to describe cases where the heart muscle appeared unusually spongy and thickened, particularly in the left ventricle, the chamber responsible for pumping oxygenated blood to the body. This spongy appearance was due to the presence of deep grooves or trabeculations in the heart muscle, which were not typical in a healthy heart.
The condition did not have major outbreaks in the traditional sense, as it is not an infectious disease. Instead, it is a genetic disorder, often inherited, which means it can run in families. The impact of LVNC on individuals can vary widely. Some people may experience severe symptoms such as heart failure, arrhythmias, or even sudden cardiac death, while others may remain asymptomatic and lead normal lives. The variability in symptoms and outcomes has made it a challenging condition to study and understand fully.
The discovery of treatments for LVNC has been gradual and is largely based on managing symptoms rather than curing the condition. Since it shares symptoms with other forms of heart disease, treatments often involve medications that help manage heart failure, control heart rate, and prevent blood clots. In some cases, devices like pacemakers or implantable cardioverter-defibrillators (ICDs) are used to regulate heart rhythms. Heart transplantation may be considered in severe cases where other treatments are ineffective.
Current research into LVNC is focused on understanding its genetic basis and the mechanisms that lead to the development of the condition. Advances in genetic testing have allowed researchers to identify specific mutations associated with LVNC, providing insights into how these genetic changes affect heart development and function. This research is crucial for developing targeted therapies that could potentially modify the course of the disease.
Additionally, there is ongoing research into improving diagnostic techniques. Enhanced imaging technologies and the development of new criteria for diagnosis aim to increase the accuracy of identifying LVNC, distinguishing it from other heart conditions with similar features. Researchers are also exploring the role of lifestyle and environmental factors in the progression of the disease, which could lead to new preventive strategies.
The study of LVNC is a dynamic field, with scientists and clinicians working together to unravel the complexities of this condition. As our understanding of the genetic and molecular underpinnings of LVNC grows, there is hope for more effective treatments and improved outcomes for those affected by this unique heart condition.