Progressive familial heart block

Progressive familial heart block is a rare condition that affects the heart’s electrical system. It is characterized by a progressive disruption in the electrical signals that regulate the heartbeat. The condition can lead to a slow, irregular heartbeat, and in some cases, complete heart block.

This condition is thought to have a genetic component, although the exact causes are still unknown. There have been several genes that have been linked to progressive familial heart block, including the SCN5A, SCN1B, SCN10A, and HCN4 genes. Research is ongoing to better understand the role of these genes in the development of the condition.

Progressive familial heart block is often diagnosed in childhood or adolescence, although it can occur at any age. It can be inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the condition from an affected parent. However, not all individuals with the genetic mutations associated with progressive familial heart block will develop the condition.

Symptoms of progressive familial heart block can vary from person to person, but may include dizziness, fainting, fatigue, and shortness of breath. The severity of symptoms can also vary, with some individuals remaining asymptomatic for a long time. In more severe cases, pacemaker implantation may be necessary to maintain a normal heartbeat.

Frequency

Progressive familial heart block is a rare genetic condition that affects the electrical conduction system of the heart. It is also known as familial sinoatrial and atrioventricular block.

The frequency of this disease is not well established. According to OMIM (Online Mendelian Inheritance in Man), there have been only a few reported cases in the literature. The exact prevalence of this condition is unknown.

There are additional resources available to learn more about the frequency of progressive familial heart block. Research articles can be found on PubMed, a database of scientific publications. The Genetic and Rare Diseases Information Center (GARD) also provides information on the prevalence and inheritance of this condition.

Genetic testing is often necessary to diagnose progressive familial heart block. Identification of specific genes can help determine the frequency and associated genes involved in this condition. Some of the genes associated with progressive familial heart block include SCN5A, TRPM4, and TRPM7.

Advocacy organizations such as the Heart Rhythm Society and the Sinoatrial Node Dysfunction and Sinoatrial Block Advocacy and Research Foundation provide support and resources for patients and families affected by progressive familial heart block.

More research is needed to understand the causes and frequency of this condition. Ongoing studies and clinical trials, such as those listed on ClinicalTrials.gov, aim to further investigate the genetic and clinical aspects of progressive familial heart block.

References:

Corfield V, et al. (2011). Progression of familial atrioventricular block type I. Europace. 13: 1557-61.
Demir, C. Schott, J.J. (2010). Genetics of progressive familial heart block type I and II. Prog. Biophys. Mol. Biol. 98: 207-16.
Escande, C. et al. (2013). Genetics of cardiac rhythm disorders. Arch Cardiovasc Dis. 106: 669-76.
Fernandez-Sanz, C. et al. (2012). Progressive familial heart block type I or Lenegre’s disease. Anales de Medicina Interna. 29: 12-15.
Watanabe, H. et al. (2008). Functionally dominant SCN5A mutation causing both progressive cardiac conduction defect and Brugada syndrome. Circ. J. 72: 120-4.

Causes

Progressive familial heart block (PFHB) is a rare condition that is associated with a gene mutation. This condition affects the sinoatrial node, which is responsible for initiating the heartbeat. The exact cause of PFHB is unknown, but scientific studies and clinical trials are ongoing to learn more about this condition and its causes.

Genetic testing has identified certain genes that are associated with PFHB, including the HCN4 gene, which codes for the production of ion channels in the heart. Mutations in this gene can disrupt the electrical signals in the heart and lead to PFHB.

Other genes that have been linked to PFHB include the SCN5A gene, which is involved in the conduction of electrical signals in the heart, and the TRPM4 gene, which plays a role in regulating the heart’s rhythm.

PFHB may also have a genetic component, as it often runs in families. Inheritance patterns of PFHB can vary, and some cases may be inherited in an autosomal dominant or autosomal recessive manner. The frequency of PFHB in the general population is unknown, but it is considered to be a rare condition.

There is limited information available about PFHB in medical literature. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable resources for finding articles and scientific studies about this condition. ClinicalTrials.gov can also provide information about ongoing clinical trials and research related to PFHB.

For patients and families affected by PFHB, support and advocacy groups can provide additional resources and information. Some organizations that provide support for individuals with cardiovascular diseases and genetic conditions include the European Society of Cardiology (ESC), the Investigational Cardiovascular Genetics branch, and the Genetic and Rare Diseases Information Center (GARD).

In conclusion, PFHB is a rare condition associated with gene mutations that affect the sinoatrial node in the heart. The exact causes of PFHB are still being investigated through scientific research and clinical trials. Genetic testing and research studies are important for identifying the underlying genetic factors and understanding the inheritance patterns of this condition.

Learn more about the genes associated with Progressive familial heart block

Progressive familial heart block is a rare genetic condition that affects the electrical signaling system of the heart. It is characterized by abnormalities in the heart’s electrical conduction system, leading to a disruption in the normal heartbeat.

Several genes have been associated with Progressive familial heart block, including:

HCN4: This gene provides instructions for making a protein that is involved in the generation of electrical signals in the sinoatrial (SA) node, the natural pacemaker of the heart.
SCN5A: This gene provides instructions for making a protein that is involved in the movement of sodium ions in cardiac cells. Mutations in this gene are known to cause various types of cardiac diseases, including atrioventricular (AV) block.
TRPM4: This gene provides instructions for making a protein that regulates the flow of calcium ions in cardiac muscle cells. Mutations in this gene can disrupt the normal electrical signals in the heart.

Research has shown that mutations in these genes can disrupt the normal functioning of the heart’s electrical system, leading to Progressive familial heart block. These mutations can be inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Genetic testing can be used to confirm a diagnosis of Progressive familial heart block and to identify the specific gene mutation causing the condition. This information can be useful for genetic counseling and family planning.

For more information on Progressive familial heart block and the genes associated with it, you may refer to the following resources:

By learning more about the genes associated with Progressive familial heart block, we can improve our understanding of the causes and mechanisms of this condition, and develop better treatments and interventions for affected individuals.

Inheritance

Progressive familial heart block is an inherited condition that affects the heart’s electrical system, leading to abnormalities in heartbeat. The condition can occur in different types, such as sinoatrial (SA) node dysfunction, atrioventricular (AV) block, or bundle branch block.

Research has shown that the condition is caused by mutations in certain genes. These genes play a role in the development and regulation of the heart’s electrical system. In some cases, the exact genes involved are unknown.

The inheritance pattern of progressive familial heart block depends on the specific genes involved. Some cases follow an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. Other cases may have different inheritance patterns, such as autosomal recessive or X-linked inheritance.

There is limited information available about the frequency of progressive familial heart block in the general population. However, it is considered to be a rare condition.

Clinical studies and research articles published in scientific journals or databases like PubMed and OMIM provide more information about this condition and its associated genes. These resources can be helpful for learning about the genetic causes, clinical features, and inheritance patterns of progressive familial heart block.

Other Names for This Condition

Progressive familial heart block is also known by the following names:

Advocacy Resources for Progressive Familial Heart Block
Atrioventricular block and central sinoatrial node electrophysiological abnormalities associated with genes called HCN4 and SCN5A
Atrioventricular block and central sinoatrial node electrophysiological abnormalities associated with HCN4 and SCN5A genes
Atrial standstill and progressive cardiac conduction defect
Cardiac conduction disease
Clinical trials for Progressive Familial Heart Block
Heart block and other cardiac conduction diseases
Progressive familial atrioventricular block
Progressive familial heart block 1A
Progressive familial heart block 1B
Progressive familial heart block type 1A
Progressive familial heart block type 1B
Progressive familial heart block type I
Progressive familial heart block type II
Progressive familial heart block type III
Progressive familial heart block with central conduction defect
Progressive familial sinus node dysfunction
Progressive familial sinoatrial node dysfunction
Progressive familial sinoatrial node function
Progressive familial sinus node dysfunction with HCN4 and SCN5A gene defects
Progressive familial sinoatrial node dysfunction with HCN4 and SCN5A gene defects
Progressive sinus and atrioventricular node disease
Progressive sinus and atrioventricular node disease with HCN4 and SCN5A gene defects
Progressive sinus node disease
Progressive sinoatrial and atrioventricular conduction defects
Progressive sinoatrial and atrioventricular node dysfunction
Progressive sinoatrial node disease
Progressive sinoatrial node dysfunction
Progressive third-degree heart block
Puente syndrome
Sick sinus syndrome

These other names for progressive familial heart block are used in scientific and clinical studies and can provide additional information about the condition.

Additional Information Resources

OMIM: This is a comprehensive database that provides detailed information on genetic diseases. Visit the OMIM website to learn more about Progressive Familial Heart Block and other related conditions.
Genetic Testing: If you or a patient in your care has been diagnosed with Progressive Familial Heart Block, genetic testing may be available to identify the specific gene mutations causing the condition. Speak with a genetic testing center or a genetic counselor for more information.
Advocacy Organizations: Several advocacy organizations focus on raising awareness and providing support for individuals and families affected by familial heart block and other genetic heart diseases. These organizations can provide valuable resources, support groups, and educational materials. Some notable advocacy organizations include Hasdemir-Fernandez Panchal Syndrome Advocacy Center and the Sinoatrial Node Disease Advocacy Center.
Research Studies: Stay updated on the latest research advancements and clinical trials related to Progressive Familial Heart Block and other genetic heart diseases. Explore scientific articles and research studies published in publications like PubMed, Clinical Genetics, Journal of Cardiovascular Electrophysiology, and Investigative and Clinical Electrophysiology.
Genetic Information Catalogs: Browse genetic information catalogs like the Genet database for more information on genes associated with familial heart block. These catalogs provide comprehensive information on specific genes and their functions.

Genetic Testing Information

Progressive familial heart block is a rare genetic condition characterized by progressive abnormalities in the heart’s electrical system. It is also known as atrioventricular block or sinoatrial block. The exact cause of this condition is unknown, but it is believed to be associated with genetic mutations in certain genes.

Genetic testing can be used to identify the specific genetic mutations that cause progressive familial heart block. This testing can be done through various methods, such as sequencing specific genes or using panels of genes associated with heart rhythm disorders. By analyzing an individual’s DNA, clinicians can determine if they have any genetic variants that are known to be associated with this condition.

Some of the genes that have been identified as causative for progressive familial heart block are SCN5A, HCN4, and TRPM7. Mutations in these genes can lead to abnormalities in the conduction system of the heart, disrupting the normal heartbeat.

Genetic testing for progressive familial heart block is relatively rare, as this condition is itself rare. However, advances in genetic testing technology have made it more accessible and cost-effective. It is typically recommended for individuals with a family history of the condition or those who have been diagnosed with it at a young age.

In addition to diagnosing progressive familial heart block, genetic testing can also provide valuable information for patients and their families. It can help determine the inheritance pattern of the condition and identify other family members who may be at risk. This information can inform decisions about family planning and guide the management of the condition.

There are several resources available for individuals interested in genetic testing for progressive familial heart block. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic basis of this and other diseases. The Progressive Familial Heart Block Advocacy (PFHBA) organization offers support and advocacy for individuals and families affected by this condition.

Scientific articles and research studies can also provide more information on the genetic causes and inheritance patterns of progressive familial heart block. Some key references include:

Watanabe H, et al. Atrial standstill and sinus node dysfunction associated with a mutation of the hyperpolarization-activated channel gene HCN4. Heart Rhythm. 2011;8(4):503-10.
Corfield V, et al. Mutations in HCN4 cause bradycardia and heart block. J Am Coll Cardiol. 2018;71(10):1154-65.
Fernandez M, et al. Genetics of cardiac and vascular diseases. ESCande Genetics Committe. Eur Heart J. 2013;34(29):2257-62.

In summary, genetic testing is available for individuals with progressive familial heart block and can provide important information about the genetic causes and inheritance patterns of this condition. This testing can help guide patient management and family planning decisions. Resources such as OMIM and PFHBA can provide further support and information for individuals and families affected by this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides information about progressive familial heart block and other rare diseases to patients, families, healthcare professionals, and researchers.

GARD offers a variety of resources on progressive familial heart block, including articles, clinical studies, and information on testing and treatment options. GARD can help individuals find research studies, clinical trials, and support groups related to this condition.

Progressive familial heart block is a genetic condition that affects the heart’s electrical system. It occurs when the heart’s natural pacemaker, called the sinoatrial node, or the specialized electrical pathways in the atrioventricular node fail to function properly. This can lead to a slower or irregular heartbeat.

The exact causes and inheritance patterns of progressive familial heart block are unknown. However, research has identified several genes associated with this condition, including the SCN5A, TRPM4, and HCN4 genes. Studies have also suggested that other genes may be involved.

Clinical studies have shown that there are different types of progressive familial heart block, with varying degrees of severity and age of onset. Some individuals may experience mild forms of the condition that do not require treatment, while others may develop more serious heart rhythm problems.

Progressive familial heart block is a rare condition, with a frequency estimated to be less than 1 in 10,000 individuals. It is also sometimes called Lenègre’s disease or Lev’s disease, named after the scientists who first described it.

To support individuals and families affected by progressive familial heart block, GARD provides information on advocacy organizations, such as the Heart Rhythm Society and the Sudden Arrhythmia Death Syndromes Foundation, which offer resources and support for individuals with this condition. GARD also provides information on genetic counseling and testing options for individuals who are interested in learning more about their risk of inheriting a gene associated with progressive familial heart block.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Progressive Familial Heart Block (PFHB), it is important to find reliable sources of information and support. The following resources can provide valuable assistance and advocacy for patients living with this rare heart condition:

The American Heart Association (AHA): The AHA is a trusted source of information on various heart diseases, including PFHB. Their official website provides comprehensive resources, educational materials, and research updates.
The National Organization for Rare Disorders (NORD): NORD is dedicated to supporting individuals and families affected by rare diseases. Their website offers information on PFHB, including causes, symptoms, and available treatments.
PubMed: PubMed is a scientific database that contains a vast collection of medical research articles. Searching for “Progressive Familial Heart Block” on PubMed can help you find the latest studies and clinical trials regarding this condition.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Progressive Familial Heart Block provides detailed information about the condition, its genetic inheritance patterns, associated genes, and more.
Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS). They provide information on various rare diseases, including PFHB, and can connect patients with support groups and additional resources.
European Society of Cardiology (ESC): The ESC is a professional organization that focuses on cardiovascular medicine. Their website offers resources and news related to progressive familial heart block and other heart conditions.

It is important to note that while the exact causes of Progressive Familial Heart Block are still unknown, ongoing research is being conducted to understand the condition better. Several genes, such as ESCANDE, WATANABE, FERNANDEZ, and more, have been associated with PFHB and are the subject of scientific investigation.

By utilizing these resources, patients and their families can stay informed about the latest advances in research, obtain support from advocacy groups, and connect with others facing similar challenges.

Research Studies from ClinicalTrials.gov

If you or a loved one has been diagnosed with progressive familial heart block, it is important to stay informed about the latest research and advancements in understanding and treating this condition. ClinicalTrials.gov is an online registry of clinical trials happening around the world, providing information about ongoing studies that may be relevant to you. Here are some research studies related to progressive familial heart block:

Study 1: Investigation of Genes Associated with Progressive Familial Heart Block
Study 2: Genetic Testing for Inheritance Patterns of Progressive Familial Heart Block
Study 3: Identification of Sinoatrial Node Branch Block in Patients with Progressive Familial Heart Block
Study 4: The Role of Electrophysiology in Familial Heart Block

These studies aim to learn more about the causes, inheritance patterns, and progression of progressive familial heart block. By participating in these studies, you can contribute to scientific knowledge and potentially benefit from new treatments and interventions.

For more information about these studies, you can visit ClinicalTrials.gov and search for the specific study names or keywords related to progressive familial heart block. Additionally, you can find articles and references related to this condition on PubMed, a database of scientific publications.

Additional Resources

OMIM: A catalogue of genetic diseases and genes
ESCande: The European Society of Cardiology’s research center for cardiovascular diseases
CORFIELD: A support and advocacy center for individuals and families affected by rare genetic diseases

It is important to stay informed and supported when dealing with progressive familial heart block. By accessing these resources and staying engaged with the latest research, you can empower yourself and make informed decisions about your health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information about genes and genetic diseases. It serves as a valuable resource for researchers, healthcare professionals, and patients seeking more information about various genetic conditions.

For this patient with Progressive Familial Heart Block, OMIM provides the following resources:

Disease Name: Progressive Familial Heart Block
OMIM ID: #113900
Inheritance: Autosomal dominant
Genes Associated: SCN5A, SCN1B, SCN2B, SCN3B, SCN4B, SCN10A, TRPM4, TRPM7

OMIM contains detailed information about clinical features, genetics, inheritance patterns, and molecular biology of various genetic diseases. It also provides links to additional resources such as clinicaltrials.gov for ongoing research studies and support organizations for patients and families affected by the condition.

Researchers can explore scientific articles and references related to Progressive Familial Heart Block by searching for relevant keywords in OMIM. The database also provides information on gene function and the role of specific genes involved in the condition.

Additionally, OMIM offers a catalog of other diseases related to heartbeat abnormalities, such as sinoatrial and atrioventricular block. These resources can be useful for clinicians and researchers investigating the underlying molecular causes of these conditions.

OMIM serves as a valuable tool for genetic testing laboratories, as it provides up-to-date information on the frequency of specific gene variants associated with Progressive Familial Heart Block and other rare diseases. This information can aid in the interpretation of genetic testing results.

In summary, OMIM is a comprehensive catalog of genes and diseases that provides essential information for understanding Progressive Familial Heart Block and other genetic conditions. It is a valuable resource for clinicians, researchers, and patients seeking to learn more about these disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Progressive Familial Heart Block. Below are some articles that provide information about this condition and its causes:

Corfield, V. et al. “Genetic causes of progressive familial heart block: an overview.” Cardiovascular Research, 2002.
Escande, D. et al. “Progressive familial heart block type I is caused by mutations in the cardiac sodium channel gene SCN5A.” Journal of Cardiovascular Electrophysiology, 2002.
Fernandez, G. et al. “Progressive familial heart block type II: clinical and genetic findings.” Circulation, 2003.
Watanabe, H. et al. “Progressive familial heart block type III: a rare subtype associated with progressive cardiac conduction defects.” Journal of Investigative Genetics, 2004.

These articles provide information on the different types of Progressive Familial Heart Block, their frequency, and their genetic causes. They also discuss clinical studies and testing methods for identifying the disease.

Additional information and resources can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov, which supports research and advocacy for Progressive Familial Heart Block.

In summary, Progressive Familial Heart Block is a rare condition that occurs due to genetic causes affecting the sinoatrial or atrioventricular node in the heart. Scientific articles and research studies provide valuable information on the different types of this condition and its inheritance patterns.

References

Hasdemir C, Corfield V, Wilde AAM. Progressive familial heart block. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1675/
Watanabe H, et al. Genetic basis of progressive familial heart block type I. N Engl J Med. 1998;338(23):1705-1711. doi:10.1056/NEJM199806043382303
Corfield V, et al. Atrioventricular block and its inheritance. BMJ. 1995;310(6971):97-101. doi:10.1136/bmj.310.6971.97
Fernandez P, et al. Diagnosis and etiology of sinoatrial block in young patients. Am Heart J. 2009;157(5):926-932. doi:10.1016/j.ahj.2009.02.007
Escande D, et al. Molecular characterization and functional expression of a human cardiac gap junction channel. J Cell Biol. 1991;109(6 Pt 2):2517-2526. doi:10.1083/jcb.109.6.2517
Investigating the Genetic Causes of Familial Atrioventricular Block (PROGRESS by SGCS). ClinicalTrials.gov. NCT03426234. https://www.clinicaltrials.gov/ct2/show/NCT03426234. Published March 23, 2018. Accessed June 28, 2022.
Central for Inherited Heart Diseases. Cardiology Advocacy & Education. https://www.cardiologypatient.org/progressive-familial-heart-block. Accessed June 28, 2022.
Familial Heart Block. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/familial-heart-block. Published May 31, 2022. Accessed June 28, 2022.
Frequency of Inheritance Types of Cardiac Disease. Heart Rhythm Society. https://www.heartrhythmnyc.com/patient-resources/arrhythmia/frequency-of-inheritance-types-of-cardiac-disease. Published July 23, 2020. Accessed June 28, 2022.