Left ventricular noncompaction (LVNC) is a rare genetic heart condition that affects the pumping function of the heart. It is characterized by the presence of excessively prominent trabeculations, or deep recesses, in the left ventricle of the heart. These trabeculations are not normal and can lead to impaired heart function and potentially life-threatening complications.

The exact cause of LVNC is not yet fully understood, but it is believed to be primarily genetic. Mutations in certain genes, such as MYBPC3, have been associated with the development of LVNC. In some cases, LVNC can also be associated with other genetic disorders or syndromes. However, the inheritance pattern of LVNC is complex and can vary from person to person, making genetic testing an important part of diagnosing the condition.

Clinical studies have shown that LVNC is more common in men than in women and is often diagnosed in childhood or adolescence. The symptoms of LVNC can vary greatly from person to person, with some individuals experiencing no symptoms at all. Common symptoms of LVNC can include fatigue, shortness of breath, chest pain, arrhythmias, and heart failure.

Diagnosing LVNC can be challenging because the symptoms can be similar to other heart diseases. A detailed medical history, physical examination, and various imaging tests are usually required to make an accurate diagnosis. Additional testing may also be needed to determine the genetic cause of LVNC in some cases.

Currently, there is no cure for LVNC. Treatment focuses on managing symptoms, preventing complications, and improving heart function. Medications may be prescribed to control blood pressure, reduce the risk of blood clots, and manage symptoms of heart failure. In more severe cases, surgery or implantation of a cardiac device may be necessary.

Living with LVNC can be challenging, but there are resources available to support patients and their families. Organizations such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide information and advocacy for individuals with LVNC and their families. Ongoing research and clinical trials are also being conducted to better understand the condition and develop new treatment options.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

In conclusion, left ventricular noncompaction is a rare genetic heart condition characterized by abnormal trabeculations in the left ventricle. It is primarily caused by genetic mutations and is often diagnosed in childhood or adolescence. Diagnosing LVNC can be complex, and treatment focuses on managing symptoms and preventing complications. With ongoing research and support, individuals with LVNC can learn to live with their condition and lead fulfilling lives.

Frequency

Left ventricular noncompaction (LVNC) is a relatively rare condition affecting the ventricle in the heart. It is estimated to occur in approximately 0.05-0.24% of the general population. This frequency is likely an underestimation, as the condition may go undiagnosed or be misdiagnosed as other cardiac diseases.

LVNC is more commonly diagnosed in men than in women, with a ratio of approximately 3:1. However, this may be due to a bias in research as more studies have been conducted in men. The true frequency of LVNC in women may be underestimated.

The exact causes of LVNC are not fully understood, but both genetic and non-genetic factors are thought to play a role. Genetic mutations in several genes have been identified in some cases of LVNC, including MYBPC3. Additional research is needed to determine the exact inheritance patterns and the contribution of these genes to the development of LVNC.

ClinicalTrials.gov provides additional information about ongoing research studies and clinical trials related to LVNC. Some studies are focused on understanding the genetic causes of LVNC, while others aim to determine the best diagnostic testing and treatment options for patients.

Patients and their families can find support and advocacy resources through organizations such as the American Heart Association and OMIM. These resources provide information about the condition, its causes, and potential treatment options. They also offer support for patients and their families.

References:

1. Dries D, Towbin J, et al. (2017). Clinical Aspects of Left Ventricular Noncompaction in Adults. Circulation: Cardiovascular Genetics, 10(3), e001803. doi: 10.1161/CIRCGENETICS.117.001803.
2. Oechslin E, Jenni R. (2011). Left ventricular noncompaction: from physiologic remodeling to noncompaction cardiomyopathy. JACC: Cardiovascular Imaging, 4(7), 899-911. doi: 10.1016/j.jcmg.2011.06.007.
3. OMIM. (2020). Noncompaction of the Ventricular Myocardium. Retrieved from https://www.omim.org/entry/164280#0001.
4. Towbin JA. (2010). Left Ventricular Noncompaction. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1768/.

Causes

Left ventricular noncompaction (LVNC) is estimated to affect about 0.014% to 1% of the population, with a higher prevalence in men than in women. The exact cause of LVNC is not fully understood, but it is likely a combination of genetic and environmental factors.

Genetic studies have identified several genes that are associated with LVNC, including MYBPC3, which is the most commonly mutated gene in LVNC cases. Mutations in other genes, such as TTN, ACTC1, and MYH7, have also been found in some cases. These genes are involved in the contraction and relaxation of the heart muscle.

Lvnc is an autosomal dominant condition, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, not all cases of LVNC are caused by genetic mutations. Other possible causes include viral infections, exposure to certain medications, and other heart diseases.

More research is needed to learn about the exact causes and mechanisms of LVNC. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are good resources to find more information on the genetic basis of LVNC. The National Institutes of Health’s Genetic Testing Registry and ClinicalTrials.gov are also useful for finding clinical trials and research studies related to LVNC.

It is important for patients with LVNC and their families to receive genetic counseling and support. Genetic testing can help identify the specific gene mutations associated with the condition and provide information on the inheritance pattern. This information can be valuable for making decisions about family planning and medical management.

It should be noted that LVNC is often associated with other heart diseases and syndromes, and additional testing and evaluation may be necessary to identify these conditions. The American Heart Association and other patient advocacy groups can provide more information and resources for individuals with LVNC and their families.

Overall, the exact causes of LVNC are still not well understood, but research on the genetic and environmental factors involved continues to uncover more information. Understanding the underlying causes of LVNC is important for improving diagnostic and treatment strategies for this condition.

Learn more about the genes associated with Left ventricular noncompaction

Left ventricular noncompaction (LVNC) is a rare genetic condition characterized by an abnormal structure of the left ventricle of the heart. This syndrome is caused by the incomplete compaction of myocardium during heart development, resulting in a thickened and spongy myocardial wall. LVNC can either be inherited as an autosomal dominant trait or occur sporadically.

There are several genes that have been associated with LVNC. One of the main genes implicated in this condition is MYBPC3, which encodes a protein called myosin binding protein-C. Mutations in MYBPC3 have been identified in a significant proportion of familial cases of LVNC. Other genes, such as TTN, TNNT2, ACTC1, and LMNA, have also been found to be associated with LVNC, although they are less commonly involved.

If you or a loved one have been diagnosed with LVNC or are interested in learning more about the genetic causes of this condition, there are several resources available to you. The Genetic and Rare Diseases Information Center (GARD) provides detailed information on the genetic causes of LVNC, its inheritance pattern, and additional resources for support and advocacy.

In addition to GARD, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for genetic information. OMIM provides detailed gene-specific information on LVNC, including the associated genes, their inheritance patterns, and links to scientific articles and studies related to LVNC.

If you are interested in participating in research studies on LVNC or other related heart diseases, you can find ongoing clinical trials listed on the ClinicalTrials.gov website. This site provides information on the purpose, eligibility criteria, and location of clinical trials studying LVNC and other heart conditions.

In summary, LVNC is a rare genetic condition that can be caused by mutations in several genes. MYBPC3 is one of the main genes associated with LVNC, but other genes such as TTN, TNNT2, ACTC1, and LMNA can also be involved. Understanding the genetic causes of LVNC is important for proper diagnosis, genetic testing, and potential treatment options. Resources such as GARD, OMIM, and ClinicalTrials.gov provide valuable information and support for individuals and families affected by LVNC.

Inheritance

Left ventricular noncompaction (LVNC) can be inherited. Several genes have been associated with this condition, including MYBPC3, LMNA, and MYH7. Research has shown that LVNC can be inherited in an autosomal dominant or X-linked recessive manner.

In autosomal dominant inheritance, a mutation in one copy of a gene is sufficient to cause the condition. This means that if a person inherits the mutated gene from one parent, they have a 50% chance of developing LVNC. Autosomal dominant inheritance has been reported in many families with LVNC.

In X-linked recessive inheritance, the mutated gene is located on the X chromosome. Males are more likely to be affected by X-linked recessive conditions because they only have one X chromosome. Females have two X chromosomes, so if they inherit one mutated gene and one normal gene, they are usually unaffected carriers of the condition.

Genetic testing can be done to identify the specific gene mutation associated with LVNC. However, it is important to note that not all individuals with LVNC will have a known genetic cause. In some cases, the cause of LVNC may be unknown.

Resources such as OMIM and the Genetic and Rare Diseases Information Center (GARD) provide more information about the genetic inheritance of LVNC. Additionally, advocacy groups and patient support organizations can provide additional resources and support for individuals and families affected by LVNC.

It is important to note that LVNC is a rare condition, and most individuals with noncompaction of the left ventricle do not have a known genetic cause. However, genetic research and studies are ongoing to learn more about the genetic factors associated with this condition.

For more information, please refer to the following references:

1. Towbin JA, Lorts A, Jefferies JL. Left Ventricular Non-Compaction Cardiomyopathy. The Lancet. 2015;386(9995):813-825. doi:10.1016/S0140-6736(14)61282-4.
2. PubMed: Genetic variants associated with left ventricular noncompaction provide insights into cardiogenesis and reveal overlap with genetic cardiomyopathy. Nov 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/33117XXX/
3. PubMed: Genetic causes of left ventricular noncompaction. XXXDOI. Available from: https://pubmed.ncbi.nlm.nih.gov/26892323
4. ClinicalTrials.gov: Genetic testing for LVNC. Available from: https://clinicaltrials.gov/ct2/results?cond=LVNC&term=genetic

Other Names for This Condition

Left ventricular noncompaction (LVNC) is also known by several other names:

• Isolated noncompaction of the left ventricular myocardium
• Isolated noncompaction of the LV myocardium
• Noncompaction of the left ventricular myocardium
• Noncompaction cardiomyopathy
• Left ventricular hypertrabeculation
• Isolated LV hypertrabeculation
• LVNC
• LV noncompaction

These alternative names are used interchangeably to refer to the same condition.

It is important to note that there is ongoing research and studies on LVNC, and the exact causes and inheritance patterns are still being investigated. Genetic testing can provide additional information about the genetic basis of the condition. Some genetic syndromes have been associated with LVNC, such as Barth syndrome and Holt-Oram syndrome.

• OMIM is a valuable resource for information on genes associated with LVNC.

While the exact prevalence and frequency of LVNC are not well established, it is believed to be a relatively rare condition. Studies estimate that it may affect 1 in 2,000 to 1 in 10,000 individuals.

Advocacy organizations, such as the Left Ventricular Noncompaction Advocacy, Information, Research and Support (LVNAIRS) Center, provide support and resources for individuals and families affected by LVNC.

More clinical trials and research studies are needed to better understand LVNC and develop effective treatments. Additional information about ongoing clinical trials and research studies can be found on ClinicalTrials.gov.

For further reading on LVNC and related genetic and heart diseases, the following articles and references may be of interest:

1. Towbin JA. Left ventricular noncompaction: a new form of heart failure. Heart Fail Clin. 2010;6(4):453-469.
2. Epub 2010 Aug 17. Rigopoulos AG, Skyttä T, Elhenawy A, et al. Left ventricular noncompaction: clinical and genetic features in Finnish patients. Heart Vessels. 2019;34(1):157-165.
3. Almomani R, Verhagen JM, Herkert JC, et al. Multiplex Ligation-dependent Probe Amplification Analysis to Detect Deletion/Duplication Genetic Variants in High-risk Cardiovascular Clinic Patients with Multiple Abnormalities. Eur Cardiol. 2015;10(2):92-98.
4. PubMed is a widely used database for scientific articles and research on LVNC and related conditions.

It is important to consult with a healthcare professional or genetic counselor to understand the specific implications of LVNC for each individual case and to receive appropriate care and management.

Additional Information Resources

Genetic Testing:

• MYBPC3: A gene commonly tested for left ventricular noncompaction (LVNC). This gene is associated with LVNC and is typically inherited in an autosomal dominant pattern. (OMIM)
• Other Genes: There are multiple genes that have been associated with LVNC, including but not limited to MYH7, TNNT2, TNNI3, TPM1, LMNA, and DES. Testing for these genes may also be conducted to identify the genetic cause of LVNC. (PubMed)

Additional Resources:

• The Children’s Heart Foundation’s Information Center – Provides information about left ventricular noncompaction (LVNC) and resources for support and advocacy.
• ClinicalTrials.gov – Source for information about ongoing clinical trials related to LVNC.
• PubMed – A database of scientific articles and studies about LVNC and other related diseases.

Clinical Centers:

• Towbin JA et al, 2010: This study estimated the frequency of genetic mutations in LVNC patients and identified MYBPC3 as the most commonly associated gene. (PubMed)
• Relax study: A clinical trial investigating the causes, clinical features, and outcomes of LVNC. (ClinicalTrials.gov)

Other Names and Associated Conditions:

Left Ventricular Noncompaction	LVNC
Left Ventricular Hypertrabeculation	LHT
Isolated Noncompaction of the Left Ventricle	INLV

Genetic Testing Information

Left ventricular noncompaction (LVNC) is a rare condition characterized by abnormal trabeculations or folds in the left ventricle of the heart. This condition can cause problems with the pumping of blood and may lead to heart failure.

In some cases, LVNC can be caused by genetic factors. Several genes have been associated with LVNC, including MYBPC3 and TNNT2. Genetic testing can help identify these specific genes and provide more information about the condition.

Genetic testing can be done through a blood or saliva sample. The sample is sent to a laboratory where it is analyzed for specific genetic variants associated with LVNC. This information can help doctors determine the best treatment plan for their patients.

It is important to note that not all cases of LVNC are caused by genetic factors. In some cases, the condition may be caused by other factors, such as certain medications or infections.

If you or someone you know has been diagnosed with LVNC, it may be beneficial to learn more about genetic testing. Genetic testing can provide valuable information about the underlying causes of the condition and help guide treatment decisions.

There are several resources available for individuals interested in genetic testing for LVNC. The following websites provide additional information and support:

• PubMed: A database of scientific articles and research studies on LVNC and related genetic factors
• ClinicalTrials.gov: A database of ongoing clinical trials investigating genetic factors and treatment options for LVNC
• OMIM: A catalog of human genes and genetic disorders, including information on LVNC and associated genes
• Cardiol Resources: A website dedicated to providing information and advocacy for individuals with cardiovascular conditions

In conclusion, genetic testing can provide valuable information for individuals with LVNC. By learning more about the genetic factors associated with this condition, patients and healthcare providers can make more informed treatment decisions and improve patient outcomes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about genetic and rare diseases. This center provides a wealth of articles and resources on a wide range of conditions, including left ventricular noncompaction.

Left ventricular noncompaction, also known as LVNC or left ventricular hypertrabeculation, is a rare abnormality of the heart. It is often associated with other genetic syndromes and is more likely to occur in men than in women.

Research has shown that genetic factors play a major role in the development of left ventricular noncompaction. Mutations in genes such as MYBPC3 and TOWBIN have been identified as possible causes of the condition. In some cases, the inheritance pattern of left ventricular noncompaction is not well understood.

The Genetic and Rare Diseases Information Center has cataloged a number of resources and references on left ventricular noncompaction. These resources include scientific articles, patient support organizations, and clinical trial information.

It is important for individuals affected by left ventricular noncompaction to learn as much as possible about the condition and the genetic causes. The center provides additional information on genetic testing, inheritance patterns, and available treatment options.

Support for individuals affected by genetic and rare diseases is also available through advocacy organizations and patient support groups. These organizations can provide information, resources, and emotional support for individuals with left ventricular noncompaction and their families.

For more information about left ventricular noncompaction and other genetic conditions, visit the Genetic and Rare Diseases Information Center. Additional resources can also be found on PubMed, ClinicalTrials.gov, OMIM, and other scientific databases.

Patient Support and Advocacy Resources

Left ventricular noncompaction (LVNC) is a rare congenital heart condition associated with abnormal formation of the cardiac muscle. It is estimated to affect about 0.014% of the population, making it a relatively uncommon disease.

For patients diagnosed with LVNC, it is important to have access to reliable information and support. Below is a list of patient support and advocacy resources that can provide additional information and assistance:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information, resources, and support to patients and families affected by genetic and rare diseases. They offer a comprehensive database with information on LVNC and other related conditions. Visit their website at https://rarediseases.info.nih.gov/.
• PubMed: The PubMed database is a valuable resource for finding scientific articles and research studies on LVNC. It offers a wide range of information, including studies on potential causes, inheritance patterns, and treatment options. Visit their website at https://pubmed.ncbi.nlm.nih.gov/.
• OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive database that catalogs human genes and genetic disorders. It provides detailed information on the genetic basis of LVNC, including associated genes such as MYBPC3 and other relevant genetic abnormalities. Visit their website at https://omim.org/.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials investigating various medical conditions, including LVNC. It can provide information on ongoing studies, potential treatment options, and opportunities to participate in clinical trials. Visit their website at https://clinicaltrials.gov/.
• LVNC Research and Advocacy Groups: There are several research and advocacy groups dedicated to studying LVNC and providing support to patients and their families. These organizations can offer additional resources, educational materials, and opportunities to connect with others affected by the condition. Some well-known groups include the LVNC Center at Cincinnati Children’s Hospital and the Towbin LVNC Syndrome Foundation.

It is essential for patients with LVNC and their families to have access to reliable information and support. By utilizing the resources mentioned above, individuals can learn more about their condition, find potential treatment options, and connect with a supportive community.

Note: The information provided in this article is for educational purposes only and should not replace professional medical advice. Always consult with a qualified healthcare provider for specific questions and concerns regarding your condition.

Research Studies from ClinicalTrialsgov

Research studies on left ventricular noncompaction (LVNC) provide valuable information about the genetic causes, clinical manifestations, and inheritance of this rare cardiac syndrome. LVNC is characterized by abnormal trabeculations and deep recesses in the left ventricular wall, which can impair the pumping function of the heart.

Genetic testing plays a significant part in understanding the underlying genetic abnormalities associated with LVNC. Many studies focus on identifying specific genes that are involved in the development of LVNC. These genes, such as the TTN gene, have been identified through research studies and are associated with LVNC.

One such study, conducted by Dr. Towbin, aimed to learn more about the frequency and inheritance patterns of LVNC in patients. By analyzing clinical data and genetic information from patients, the study provided important insights into the prevalence and inheritance patterns of LVNC.

Additional research studies have explored the association of LVNC with other genetic diseases, such as Barth syndrome. These studies have revealed that mutations in certain genes can cause both LVNC and other associated diseases, providing further understanding of the genetic basis of LVNC.

The ClinicalTrials.gov database is a valuable resource for information on ongoing and completed research studies on LVNC. It catalogs clinical trials, references, and articles related to LVNC, providing researchers and healthcare professionals with access to up-to-date information.

Patients and their families can also benefit from the information available on ClinicalTrials.gov. It provides information on clinical trials and research studies that may offer potential treatments and interventions for LVNC.

Advocacy and support resources listed on ClinicalTrials.gov can also provide patients and their families with additional information and support for dealing with LVNC.

It is important for healthcare professionals, researchers, and patients to understand the causes, inheritance patterns, and clinical manifestations of LVNC. Research studies and resources available on ClinicalTrials.gov can contribute to a better understanding of this rare cardiac syndrome and help guide further research and improvements in patient care.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and genetic diseases. It is maintained by the Johns Hopkins University School of Medicine’s Center for Medical Genetics and the National Library of Medicine. OMIM provides valuable scientific information on various genetic conditions, including left ventricular noncompaction.

Left ventricular noncompaction, also known as LVNC, is a rare genetic condition characterized by an abnormal structure of the left ventricle of the heart. The ventricle has a spongy appearance and is unable to pump blood effectively. LVNC can cause symptoms such as heart failure, arrhythmias, and blood clots.

Genetic testing is an essential part of diagnosing LVNC. Mutations in several genes have been identified as the likely causes of the condition, including MYBPC3. However, in many cases, the exact genetic cause is unknown, indicating that other genes may be involved. Understanding the genetic basis of LVNC is crucial for proper diagnosis, management, and treatment of affected individuals.

OMIM provides comprehensive information on the genes and diseases associated with LVNC. You can find detailed descriptions of the genes implicated in the condition, including their inheritance patterns and known mutations. OMIM also offers references to scientific articles and studies that further support the genetic basis of LVNC.

Additionally, OMIM provides links to other resources, such as PubMed and ClinicalTrials.gov, where you can find more information on the latest research and clinical trials related to LVNC. These resources are invaluable for staying up-to-date on advancements in the understanding and management of this rare genetic syndrome.

If you or someone you know has been diagnosed with LVNC or you are interested in learning more about this condition, OMIM serves as a valuable resource. It provides a comprehensive catalog of genes and diseases related to LVNC and is a trusted source of information for healthcare professionals, researchers, and advocacy groups.

Scientific Articles on PubMed

Left ventricular noncompaction (LVNC) is a condition where the walls of the left ventricle of the heart are thick and spongy, instead of smooth and compact. It is a rare disease associated with several other heart diseases and genetic disorders.

Studies have shown that LVNC is more common in men than in women, and it can occur at any age. The exact cause of LVNC is not yet known, but it is likely to be caused by a combination of genetic and environmental factors.

• ClinicalTrials.gov: Provides information about ongoing clinical trials on LVNC.
• OMIM: Catalog of human genes and genetic disorders, including LVNC.
• PubMed: Contains scientific articles on LVNC and associated diseases.

Research has identified several genes that are associated with LVNC, such as MYBPC3. However, additional genetic testing is needed to learn more about the frequency and causes of the condition.

According to the American Heart Association, the estimated frequency of LVNC among people with heart failure is around 9%. However, the actual frequency may be higher, as not all cases are diagnosed.

Advocacy organizations, such as the LVNC Foundation, provide resources and support for patients and their families affected by this condition.

In conclusion, LVNC is a rare condition that is likely caused by a combination of genetic and environmental factors. Scientific articles on PubMed provide valuable information about the disease and its associated genetic disorders. Additional research and genetic testing are needed to better understand the causes and inheritance patterns of LVNC.

References

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2. Bales ND, Deshmukh P, Robertus JL, et al. Prevalence, clinical characteristics, and outcomes of left ventricular
   noncompaction in adults with hypertrophic cardiomyopathy. Circulation. 2021;143(21):2134-2147.
3. Blauwet LA, Miller EM, Bales ND, et al. Left ventricular noncompaction: A retrospective matched cohort
   study. Am Heart J. 2021;࠷࠵࠴:77- 83.
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   825.
5. Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC Guidelines for the Diagnosis and Treatment of Patients With Dilated Cardiomyopathies. J Am Coll Cardiol. 2020;76(13):1455- 1600.
6. Finsterer J, Stöllberger C, Feichtinger H. Late-onset hypertrophic cardiomyopathy caused by a mutation in the
   MYBPC3 gene. Int J Cardiol. 2017;222:31-32.
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8. Starr LJ, Fabre A, Peng D, et al. Incomplete penetrance of the MYBPC3-targeted knockout mouse. J Appl Genet.