Familial dilated cardiomyopathy is a rare genetic heart condition that causes the chambers of the heart to become enlarged and weaken, leading to heart failure.

This condition is typically inherited through a pattern called autosomal dominant inheritance, which means that a person has a 50% chance of inheriting the gene mutation from a parent who carries it. These gene mutations can affect the function of proteins in the heart muscle cells, leading to impaired contraction and dilation of the heart chambers.

There are several genes that have been associated with familial dilated cardiomyopathy, including the MYH6 and MYH7 genes. Mutations in these genes are responsible for a small percentage of cases. However, research is ongoing to learn more about the other genes and mutations that can cause this condition.

Scientists believe that mutations in these genes disrupt the normal function of the heart muscle cells, leading to the dilation and weakening of the heart chambers. Without proper support and contraction, the heart is unable to pump blood efficiently, which can result in heart failure.

Clinically, familial dilated cardiomyopathy typically presents in adulthood, but there have been cases reported in children as well. Symptoms may include fatigue, shortness of breath, and swelling of the legs and ankles. Additional testing, such as an echocardiogram or genetic testing, may be done to confirm the diagnosis.

Treatment for familial dilated cardiomyopathy focuses on managing symptoms and preventing or delaying complications. This may include medication to support heart function, lifestyle modifications, and implantation of devices such as pacemakers or defibrillators.

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There are resources available for individuals and families affected by familial dilated cardiomyopathy, including support groups, advocacy organizations, and research centers. Additional information can be found on scientific websites such as OMIM, PubMed, and clinicaltrials.gov.

In conclusion, familial dilated cardiomyopathy is a rare genetic heart condition that can be caused by mutations in several different genes. Research is ongoing to learn more about the causes and mechanisms of this condition. The identification of specific gene mutations allows for genetic testing and potentially targeted therapies in some cases. It is important for individuals and families affected by this condition to seek support and stay informed about the latest research and treatment options.

Frequency

Information about the frequency of familial dilated cardiomyopathy (FDC) can be obtained from various sources, including research studies, clinical trials, and genetic databases.

• The HCM Mutation Database provides information on genes and mutations associated with FDC, including their frequency in familial cases.
• A study by Hershberger et al. (2009) reported that mutations in specific genes were found in approximately 20-35% of familial cases of dilated cardiomyopathy (DCM).
• Other studies have reported different frequencies, ranging from 10% to 70%, depending on the patient population and the genes tested.

Genetic testing can help identify the specific genes and mutations responsible for FDC in individual patients and their family members. This information can also be used to learn more about the inheritance pattern and clinical features of the condition.

Additional resources for information on the frequency of FDC include scientific articles, clinical trials databases (such as ClinicalTrials.gov), and genetic databases and catalogs (such as OMIM).

It is important to note that FDC is a rare condition, and the frequency of specific genes and mutations may vary among different populations.

Research studies have also revealed that mutations in certain genes can cause a noncompaction phenotype, which is associated with an abnormal heart chamber function.

Genetic counseling and support from advocacy organizations can provide further information and resources for individuals and families affected by FDC.

Causes

Familial dilated cardiomyopathy (FDC) is caused by genetic mutations, which can be inherited through the family. In rare cases, FDC can also occur as a result of de novo (new) mutations, meaning they are not inherited from either parent.

Genetic studies have identified several genes that are associated with FDC. The most common genes associated with FDC are those involved in the functioning and structure of the heart muscle cells, particularly those that regulate contraction. Mutations in these genes can disrupt the normal function of the heart and lead to the development of dilated cardiomyopathy.

FDC follows an autosomal dominant inheritance pattern, which means that a mutation in one copy of the gene is enough to cause the condition. This means that each child of an affected individual has a 50% chance of inheriting the mutation and developing FDC.

Additional causes of dilated cardiomyopathy may include non-genetic factors such as viral infections, toxin exposure, or alcohol abuse. These cases are more common in individuals without a family history of the condition.

Clinical testing for FDC can be done through genetic testing to identify the specific genetic mutations associated with the condition. This testing can provide more information about the genetic cause of the disease, as well as help to determine the best clinical management and treatment options for affected individuals.

For more information about the genetic causes of familial dilated cardiomyopathy, additional resources and support can be found through the Center for Genomic Medicine, OMIM (Online Mendelian Inheritance in Man), scientific articles and references, advocacy and patient support organizations.

Learn more about the genes associated with Familial dilated cardiomyopathy

Familial dilated cardiomyopathy (DCM) is a rare genetic condition that affects the heart’s ability to pump blood effectively. Studies have shown that certain genes play a role in the development of this condition.

One of the genes associated with Familial DCM is the TTN gene. Mutations in the TTN gene, which codes for the protein titin, have been found in a significant number of patients with Familial DCM. These mutations can lead to abnormalities in heart muscle function and contractility.

Another gene associated with Familial DCM is the LMNA gene. Mutations in this gene are known to cause other genetic diseases, such as familial noncompaction cardiomyopathy. The LMNA gene provides instructions for producing proteins that are important for maintaining the structure and function of the heart.

If you want to learn more about the genes associated with Familial DCM, there are several resources available. One such resource is the OMIM database, which provides information about the genetic causes of diseases. The OMIM entry for Familial DCM includes articles and research studies related to the condition and its genetic causes, as well as links to other relevant resources.

Another resource is the Genetics Home Reference website, which is run by the National Center for Biotechnology Information. This website provides information about genetic conditions, including Familial DCM, and the genes associated with them.

In addition to these resources, there are also advocacy and support organizations that provide information and resources for patients and families affected by Familial DCM. These organizations often have resources on their websites, as well as support groups and educational materials.

If you are interested in participating in research studies or clinical trials related to Familial DCM, you can search for ongoing studies on websites like clinicaltrials.gov. These studies often aim to better understand the causes and mechanisms of Familial DCM, as well as develop new treatments and therapies.

Overall, Familial DCM is a complex genetic condition with multiple genes and causes. Further research and genetic testing are needed to fully understand the genetic basis of this condition and develop targeted treatments.

Inheritance

Dilated cardiomyopathy (DCM) can be inherited in several different ways. It is estimated that about 30-50% of cases of DCM have a genetic cause. Inherited forms of DCM are known as familial dilated cardiomyopathy.

DCM can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Autosomal dominant inheritance is the most common pattern observed in familial DCM, where a mutation in a single copy of a gene is enough to cause the disease. This means that a child of an affected individual has a 50% chance of inheriting the mutation and developing DCM.

There are several genes that have been associated with familial DCM. Mutations in these genes can disrupt important processes in the heart, leading to the development of DCM. Some of the genes commonly associated with familial DCM include TNNT2, MYH7, and LMNA.

Genetic testing can be used to identify mutations in these genes and provide a diagnosis for patients with suspected familial DCM. This information is important for genetic counseling and family planning.

In some cases, the cause of familial DCM may not be identified even after genetic testing. This is because there are likely additional genes that have not yet been discovered. Ongoing research studies, such as those listed on clinicaltrialsgov and research articles on PubMed, are actively working to identify these genes and understand their role in the development of familial DCM.

Genetic inheritance of DCM can vary within families. This means that even if a person inherits a mutation associated with familial DCM, they may not develop the condition or may have a milder form of the disease. Additional genetic and environmental factors likely contribute to the variable expressivity and penetrance of familial DCM.

Support and advocacy groups, such as the Familial Cardiomyopathy Registry and Familial Cardiomyopathy Network, provide resources and support for individuals and families affected by familial DCM. These organizations offer information about the disease, genetic testing, and clinical studies, as well as opportunities to connect with others who have similar experiences.

In summary, familial dilated cardiomyopathy is often inherited in an autosomal dominant manner and can be caused by mutations in several different genes. Genetic testing can provide a diagnosis and help guide patient management and family planning. Ongoing research studies are working to identify additional genes and better understand the genetic causes of familial DCM.

Other Names for This Condition

Familial dilated cardiomyopathy is a genetic condition that is typically caused by mutations in genes that contract the heart muscle cells, resulting in the disease. Clinical testing can help determine if a patient has this condition. Although familial dilated cardiomyopathy is rare, it is important to learn about the other names for this condition, as it provides additional support to its genetic cause.

Some of the other names for familial dilated cardiomyopathy include:

• Familial dilated cardiomyopathy without conduction defect 1
• Rare genetic cardiomyopathy
• Noncompaction of left ventricular myocardium
• Cardiomyopathy, familial, with heart block

These names reflect the different aspects and specificities of the condition, highlighting its genetic inheritance pattern and the specific genes associated with it. The names also emphasize the potential presence of heart block and left ventricular noncompaction, which are sometimes observed in familial dilated cardiomyopathy cases.

The frequency of familial dilated cardiomyopathy cases can vary among different populations and regions. For example, studies have shown that mutations in certain genes, such as MYH7 and TNNT2, are more common in certain families and ethnic groups. The Genetics and Rare Diseases (GARD) Information Center and the Online Mendelian Inheritance in Man (OMIM) catalog provide resources with information on the genetics of familial dilated cardiomyopathy and other related conditions.

Advocacy organizations, scientific articles, and clinical trials are also important resources for learning more about familial dilated cardiomyopathy and its genetic causes. PubMed, a database of scientific articles, contains a wealth of information on familial dilated cardiomyopathy genetics and associated diseases. ClinicalTrials.gov can provide information about ongoing clinical trials and research studies related to familial dilated cardiomyopathy and other genetic heart diseases.

In conclusion, familial dilated cardiomyopathy is a genetic condition that can be caused by mutations in different genes. These mutations disrupt the function of heart muscle cells, leading to the enlargement of the heart chambers. Familial dilated cardiomyopathy can have different names, reflecting its inheritance pattern and associated features. Understanding the genetic basis of familial dilated cardiomyopathy is essential for accurate diagnosis, treatment, and genetic counseling for affected individuals and their families.

Additional Information Resources

For additional information on Familial Dilated Cardiomyopathy and related topics, the following resources provide valuable support, clinical trials, and research articles:

• Dilated Cardiomyopathy Overview: The Genetic and Rare Diseases Information Center provides comprehensive information about the disease, including its causes, symptoms, and treatment options. Visit their website to learn more: https://rarediseases.info.nih.gov/diseases/4973/dilated-cardiomyopathy
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogs genes and genetic disorders, including Familial Dilated Cardiomyopathy. Visit their website for more information: https://www.omim.org/entry/115200
• ClinicalTrials.gov: This website provides information on clinical trials related to Familial Dilated Cardiomyopathy. Patients and their families can find ongoing trials, learn about the latest research, and access resources for participation. Visit their website to explore the available options: https://clinicaltrials.gov/
• Genetics Home Reference: This resource from the U.S. National Library of Medicine provides information about genetic conditions, including Familial Dilated Cardiomyopathy. It offers an overview of the condition, its genetic causes, and associated genes. Learn more at: https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy
• Scientific Articles: For more in-depth research and scientific articles on Familial Dilated Cardiomyopathy, journals such as Circulation: Genomic and Precision Medicine, Journal of Cardiology, and The American Journal of Cardiology are valuable sources.
• Patient Advocacy Organizations: Several patient advocacy organizations, such as the Advocate Cardiomyopathy Alliance, provide support, information, and resources for individuals and families affected by Familial Dilated Cardiomyopathy. These organizations often offer support groups, educational materials, and guidance for navigating the condition. Connect with these organizations for additional support and information.

By utilizing these resources, patients and families can gain a better understanding of Familial Dilated Cardiomyopathy and find support in managing the condition.

Genetic Testing Information

Familial dilated cardiomyopathy (DCM) is a rare genetic disease characterized by the weakening and enlargement of the heart chambers, leading to impaired heart function. It is known to have a strong genetic inheritance pattern, meaning that it can be passed down through generations in a family.

The causes of familial DCM are primarily due to mutations in genes that are involved in the structure and function of heart muscle cells. These mutations can affect the normal contraction of the heart, leading to the development of DCM. One such gene is the noncompaction gene, which is associated with a rare form of DCM called noncompaction cardiomyopathy.

Genetic testing plays a crucial role in diagnosing familial DCM and identifying the specific gene mutations that cause the disease. Through genetic testing, individuals can learn if they have inherited the mutation from their family members and understand the risk of developing the disease. Additionally, genetic testing can provide important information for clinical management and treatment decisions.

There are several resources available for genetic testing information on familial DCM. PubMed, a database of scientific articles, provides a wealth of research on the genetics of familial DCM. The Online Mendelian Inheritance in Man (OMIM) database catalogs information on genes and genetic disorders, including familial DCM. The Hershberger Genetic Center offers genetic testing and support for individuals and families affected by familial DCM.

Genetic testing can help identify the specific gene mutations associated with familial DCM, which can help with diagnosis and treatment. It can also provide valuable insights into the frequency of these mutations in the general population and their impact on heart function.

It is important to note that not all cases of familial DCM are associated with known genetic mutations. In some cases, the cause of the disease may be multifactorial, involving a combination of genetic and environmental factors. Ongoing research is focused on identifying additional genes and factors that contribute to the development of familial DCM.

For more information on genetic testing for familial DCM, clinical trials, patient advocacy, and support resources, please refer to the references below:

• Seidman CE, Seidman J. Genetic basis for familial dilated cardiomyopathy. N Engl J Med. 2002;346(9):661-672. doi:10.1056/NEJMra012657
• Hershberger RE, Givertz MM, Ho CY, et al. Genetic evaluation of cardiomyopathy – A Heart Failure Society of America practice guideline. J Card Fail. 2018;24(5):281-302. doi:10.1016/j.cardfail.2018.03.005
• Familial Dilated Cardiomyopathy. Genetics Home Reference. US National Library of Medicine. Accessed June 10, 2021. https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy
• ClinicalTrials.gov. US National Library of Medicine. Accessed June 10, 2021. https://www.clinicaltrials.gov
• Noncompaction Cardiomyopathy. Genetic Testing Registry. US National Library of Medicine. Accessed June 10, 2021. https://www.ncbi.nlm.nih.gov/gtr/conditions/C0795949/
• Hershberger RE. Genetic Evaluation of Cardiomyopathy. Circulation. 2009;120(25):2520-2529. doi:10.1161/circulationaha.109.192064

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by Familial Dilated Cardiomyopathy. This center provides clinical and genetic information about the condition, including its causes, symptoms, and inheritance pattern.

Familial Dilated Cardiomyopathy is a rare genetic condition that affects the heart’s ability to pump blood effectively. It is typically inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the mutation to their children.

The exact cause of Familial Dilated Cardiomyopathy is not fully understood, but it is believed to involve mutations in certain genes that are responsible for maintaining the normal function of heart muscle cells. Researchers have identified several genes associated with the condition, including the TTN, FLNC, and MYH7 genes, among others. However, in many cases, the specific genetic cause remains unknown.

The Genetic and Rare Diseases Information Center provides information about genetic testing for Familial Dilated Cardiomyopathy and lists laboratories that offer testing services. Testing can help confirm a diagnosis and identify the specific gene mutation responsible for the condition. This information can be crucial for understanding the disease and its potential impact on family members.

Patients and families can also find information about ongoing research, clinical trials, and other rare diseases that may be associated with Familial Dilated Cardiomyopathy. The center provides links to scientific articles, research studies, and references to related resources for further learning.

In addition to providing scientific information, the Genetic and Rare Diseases Information Center offers support and advocacy resources for individuals and families affected by Familial Dilated Cardiomyopathy. This can include links to patient support organizations and other resources aimed at improving the quality of life for those living with the disease.

Overall, the Genetic and Rare Diseases Information Center is an essential resource for individuals and families affected by Familial Dilated Cardiomyopathy. It provides comprehensive information about the condition, including its clinical presentation, genetic causes, and available resources for support. Through this center, individuals can learn more about the disease and its management, empowering them to make informed decisions about their healthcare.

Patient Support and Advocacy Resources

One of the most challenging aspects of living with familial dilated cardiomyopathy is understanding the inheritance and cause of the condition. The genetic basis of familial dilated cardiomyopathy is complex and can involve mutations in various genes. In some cases, the condition may be associated with other genetic diseases or syndromes, such as noncompaction cardiomyopathy or other rare genetic conditions.

For patients and their families seeking more information and support, there are several resources available. These resources provide valuable information about the condition, its genetic causes, and available patient support and advocacy opportunities.

• ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database that provides information about ongoing clinical trials related to familial dilated cardiomyopathy and other related conditions. Patients and their families can search for clinical trials that are currently recruiting participants and learn more about available options for participation.

• PubMed: PubMed is a widely used scientific database that provides access to a vast collection of scientific articles and research studies on familial dilated cardiomyopathy. Patients and their families can search for relevant articles and studies to learn more about the condition, its genetics, and the latest research advancements.

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. Patients and their families can search for specific genes associated with familial dilated cardiomyopathy and access detailed information about the genes, their function, and the frequency of mutations in the general population.

• Center for Genetic Heart Disease: The Center for Genetic Heart Disease is a specialized center that focuses on the genetics of various heart diseases, including familial dilated cardiomyopathy. The center provides comprehensive genetic testing services and offers genetic counseling and support for patients and their families.

• Advocacy Organizations: Several advocacy organizations for cardiomyopathy and genetic diseases provide support, resources, and community for patients and their families. These organizations often organize educational events, support groups, and fundraising initiatives to raise awareness and support research efforts.

In conclusion, there are various patient support and advocacy resources available for individuals and families affected by familial dilated cardiomyopathy. These resources provide valuable information about the condition, its genetic causes, and available clinical trials. They also offer support and community for patients and their families, helping them navigate the challenges associated with this rare genetic condition.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov provides a wealth of information on research studies related to familial dilated cardiomyopathy. These studies aim to investigate various aspects of the condition, including its genetic causes, inheritance patterns, clinical features, and treatment options.

Through these research studies, scientists are able to identify specific mutations in genes that are associated with familial dilated cardiomyopathy. These mutations can help in understanding the underlying genetic basis of the disease and its impact on heart function.

One of the key resources for studying familial dilated cardiomyopathy is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on the genes, mutations, and genetic patterns associated with this condition.

Research studies also aim to learn more about the clinical features of familial dilated cardiomyopathy, including its frequency, symptoms, and complications. ClinicalTrials.gov offers a platform for researchers to collect data from patients and conduct scientific studies on the disease.

While familial dilated cardiomyopathy is typically a rare condition, research studies have shown that it can be caused by mutations in multiple genes. These studies have identified several genes, including MYH7, MYBPC3, TNNT2, and LMNA, that are associated with familial dilated cardiomyopathy.

In addition to studying the genetic causes of familial dilated cardiomyopathy, research studies also focus on understanding the cellular mechanisms of the disease. By studying the function of genes and their impact on heart cells, researchers hope to uncover new insights into the pathogenesis of this condition.

Support and advocacy organizations such as the Center for Genetics and Genomics and the National Organization for Rare Disorders (NORD) provide resources and information for patients and families affected by familial dilated cardiomyopathy. These organizations offer support, education, and resources to help individuals navigate their journey with the disease.

Research studies from ClinicalTrials.gov also provide information on testing methods and approaches for diagnosing familial dilated cardiomyopathy. Genetic testing is often recommended for individuals with a family history of the disease, as it can help identify the specific genetic mutations that cause the condition.

However, it is important to note that in many cases, the exact cause of familial dilated cardiomyopathy remains unknown. Research studies continue to explore other potential genetic and non-genetic causes of the disease.

From the research studies conducted so far, it is clear that familial dilated cardiomyopathy is a complex and multifactorial condition. Its genetic basis, inheritance patterns, and clinical features vary from case to case. Therefore, a comprehensive understanding of the disease requires a multidisciplinary approach that combines clinical, genetic, and scientific knowledge.

For more information on research studies and clinical trials related to familial dilated cardiomyopathy, please refer to the references and resources provided by ClinicalTrials.gov and PubMed.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information about the genetic causes and clinical features of various inherited disorders. In the context of familial dilated cardiomyopathy, OMIM offers a wealth of resources and support for patients and researchers.

• Genes: OMIM contains information about the genes associated with familial dilated cardiomyopathy. These genes play a crucial role in the proper function of heart cells and their mutations can lead to the development of this condition. Some of the genes commonly associated with familial dilated cardiomyopathy include ABCC9, ACTC1, and LAMP2, among others.
• Diseases: OMIM provides detailed information about familial dilated cardiomyopathy, including its clinical features, inheritance pattern, and frequency. This rare genetic disease is characterized by the dilation of the heart chamber, leading to impaired contractility and heart function. OMIM also includes data on other diseases that may be associated with familial dilated cardiomyopathy, such as left ventricular noncompaction.
• Research and Clinical Trials: OMIM includes references to scientific studies and clinical trials related to familial dilated cardiomyopathy. This information can be valuable for researchers and patients looking to learn more about the latest advancements in the field. Additionally, OMIM provides links to resources such as PubMed and ClinicalTrials.gov for further reading and information.
• Support and Advocacy: OMIM offers support and advocacy resources for patients and families affected by familial dilated cardiomyopathy. This includes information about patient support groups, genetic counseling services, and advocacy organizations that are dedicated to raising awareness about this rare genetic condition.

In summary, OMIM serves as a comprehensive catalog of genes and diseases, providing crucial information about familial dilated cardiomyopathy and other related conditions. By learning about the genetic causes, clinical features, and available resources, individuals can better understand and manage this rare inherited disease.

Scientific Articles on PubMed

Familial dilated cardiomyopathy (DCM) is a heart condition characterized by the dilatation and impaired function of the heart’s main pumping chamber, the left ventricle. It is a genetic disease that can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern.

The genetics of familial DCM have been extensively studied, and numerous mutations in different genes have been cataloged. These genes are involved in various aspects of cardiac function and structure. Scientific articles on PubMed provide a wealth of information about the genetic basis of this condition.

Studies typically involve clinical evaluations of affected individuals and their family members, as well as genetic testing to identify the specific mutations. Researchers investigate how these mutations affect the function of the genes and their protein products. This research helps us understand the underlying molecular mechanisms of familial DCM.

One significant study by Seidman et al., published in Circulation: Cardiovascular Genetics, identified mutations in several genes associated with familial DCM. They found that mutations in the TTN gene accounted for a significant proportion of cases. The TTN gene encodes a protein called titin, which plays a crucial role in the contractile function of heart muscle cells.

Additional articles provide more information about the genetic causes of familial DCM. The Online Mendelian Inheritance in Man (OMIM) database, for example, contains detailed summaries on specific genes and their associated mutations.

It is important to note that familial DCM is a rare condition, and the majority of cases are caused by mutations in genes other than TTN. However, through research and genetic testing, we continue to learn more about the underlying causes of this disease.

In recent years, there has been a growing number of resources and research centers dedicated to studying familial DCM. Organizations like the Familial Dilated Cardiomyopathy Registry and the Hershberger Genetic Cardiomyopathy Center provide valuable information and support for patients and their families.

Scientific articles on PubMed, along with clinicaltrialsgov, are important resources for clinicians and researchers working in this field. They contribute to our understanding of familial DCM and help guide the development of new diagnostic and therapeutic approaches.

In summary, Familial dilated cardiomyopathy is a rare genetic disease with a complex genetic basis. Scientific articles on PubMed provide valuable insights into the genetics, pathophysiology, and clinical aspects of this condition. These resources help researchers and clinicians advance our understanding of familial DCM and develop targeted interventions for affected individuals and their families.

References:

• Seidman JG, Seidman C. The Genetic Basis for Cardiomyopathy. Circ Res. 2011 Jun 10; 109(12): 277-283. doi: 10.1161/CIRCRESAHA.110.237405. Epub 2011 Jun 9.

References

• Genetics Home Reference. Familial dilated cardiomyopathy. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy. Accessed April 11, 2021.
• Hershberger RE, Morales A, Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals. Genet Med. 2010;12(11):655-667. doi:10.1097/GIM.0b013e3181f57c71.
• Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113(14):1807-1816. doi:10.1161/CIRCULATIONAHA.106.174287.
• OMIM Entry – #609909 – CARDIOMYOPATHY, DILATED, 1G; CMD1G. Johns Hopkins University. Available at: https://omim.org/entry/609909. Accessed April 11, 2021.
• Driggers RW, Stine KC, Costello LB, et al. Case Report of a Familial Congenital Noncompaction of Ventricular Myocardium: A Brief Review and Update on Genetic Causes. Cureus. 2020;12(2):e6862. doi:10.7759/cureus.6862.
• Genetics Home Reference. Noncompaction cardiomyopathy. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/noncompaction-cardiomyopathy. Accessed April 11, 2021.
• Cardiomyopathy Information Page. National Heart, Lung, and Blood Institute. Available at: https://www.nhlbi.nih.gov/health-topics/cardiomyopathy. Accessed April 11, 2021.
• American Heart Association – Familial Dilated Cardiomyopathy. Available at: https://www.heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/familial-dilated-cardiomyopathy. Accessed April 11, 2021.
• Familial Dilated Cardiomyopathy. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/familial-dilated-cardiomyopathy/. Accessed April 11, 2021.
• ClinicalTrials.gov. Search results for “familial dilated cardiomyopathy”. U.S. National Library of Medicine. Available at: https://clinicaltrials.gov/ct2/results?cond=familial+dilated+cardiomyopathy. Accessed April 11, 2021.