Materiały źródłowe

• #1 Hypertrophic cardiomyopathy – Wikipedia

  https://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy

  HCM is most commonly inherited in an autosomal dominant pattern. […] It is often due to mutations in certain genes involved with making heart muscle proteins. […] Other inherited causes of left ventricular hypertrophy may include Fabry disease, Friedreich’s ataxia, and certain medications such as tacrolimus. […] Making the diagnosis of HCM often involves a family history or pedigree, an electrocardiogram, echocardiogram, and stress testing. […] Genetic testing may also be done. […] HCM can be distinguished from other inherited causes of cardiomyopathy by its autosomal dominant pattern, whereas Fabry disease is X-linked, and Friedreich’s ataxia is inherited in an autosomal recessive pattern. […] Currently, about 50-60% of people with a high index of clinical suspicion for HCM will have a mutation identified in at least one of nine sarcomeric genes.

• #1 Hypertrophic Cardiomyopathy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK430788/

  Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiac myocyte disease caused by mutations in sarcomere protein genes encoding for elements of the contractile machinery of the heart. […] About 60% of patients with HCM have a known gene mutation of the sarcomere or sarcomere-related genes, and obtaining a detailed family history is crucial to help in risk stratification for affected patients. […] Familial HCM occurs as an autosomal dominant Mendelian-inherited disorder in approximately 60% of cases. Incomplete penetrance and variable expression can cause unpredictable manifestations, even within the same family. […] A significant portion of individuals diagnosed with HCM do not have a genetic explanation for their condition; this includes a subset of patients, up to 40% in some studies, who do not have any family members affected by the disease known as nonfamilial HCM. […] Recent data has also associated abnormal myocardial calcium kinetics with the cause of inappropriate myocardial hypertrophy and specific features of HCM, especially in patients with diastolic functional abnormalities.

• #1 Hypertrophic Cardiomyopathy: Symptoms & Causes | University of Utah Health | University of Utah Health

  https://healthcare.utah.edu/cardiovascular/programs/hypertrophic-cardiomyopathy-program

  Hypertrophic cardiomyopathy (HCM) affects one in 500 people in the general population. In most cases, HCM is caused by genetic mutations. […] HCM is inherited in an autosomal dominant pattern. This means that people with HCM have a 50 percent chance of passing this condition on to their children. Genetic researchers have identified over 1,500 mutations affecting more than 15 genes associated with HCM. […] Hypertrophic cardiomyopathy is a genetic disease that causes the heart muscle to become thicker, making it harder for the heart to pump blood.

• #1 Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5654557/

  Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes, and a non-dilated left ventricle with preserved or increased ejection fraction. […] Mutations in over a dozen genes encoding sarcomere-associated proteins cause HCM. MYH7 and MYBPC3, encoding -myosin heavy chain and myosin binding protein C, respectively, are the two most common genes involved, together accounting for about 50% of the HCM families. […] In approximately 40% of HCM patients the causal genes remain to be identified. […] HCM is an archetypical single gene disorder with an autosomal dominant pattern of inheritance, whereby a single mutation is usually sufficient to cause the disease, albeit with variable penetrance and expression. […] Approximately 60% of patients with HCM have a clearly recognizable familial disease.

• #1 Hypertrophic cardiomyopathy (HCM) – BHF

  https://www.bhf.org.uk/informationsupport/conditions/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy (HCM) is a genetic condition caused by a change or mutation in one or more genes and is mostly passed on through families. A child of someone with HCM has a 50 percent chance of inheriting the condition. […] HCM is a mostly inherited heart condition, which means that it can be passed on through families. If your healthcare professional thinks that you have HCM, you may be offered a genetic test to identify a faulty gene. […] If you are found to have a faulty gene, your healthcare professional may ask to talk to your close relatives, such as parents, siblings or children. This is because they may have also inherited the same gene.

• #1 Symptoms and Causes of Hypertrophic Cardiomyopathy (HCM) – Bottom Line, Inc.

  https://www.bottomlineinc.com/health/heart/symptoms-and-causes-of-hypertrophic-cardiomyopathy-hcm/

  If you have hypertrophic cardiomyopathy, the muscles in the left side of your heart become abnormally thick, which makes both filling and emptying of the heart difficult, increasing the workload of the heart. […] Hypertrophic cardiomyopathy is usually caused by a gene abnormality, called a genetic mutation. The mutation occurs in genes that control proteins in the muscle cells of the heart. […] In about 60 percent of cases, the genetic mutation is passed down through families, called familial hypertrophic cardiomyopathy. […] In about 40 percent of cases, there is no family history of hypertrophic cardiomyopathy, and no abnormal genes found with genetic blood testing. The cause of the nonfamilial type is unknown.

• #1 Hypertrophic Cardiomyopathy: Causes, Symptoms & Treatments

  https://my.clevelandclinic.org/health/diseases/17116-hypertrophic-cardiomyopathy

  What causes hypertrophic cardiomyopathy (HCM)? There are several potential causes of hypertrophic cardiomyopathy, including: […] Genetics. You can inherit hypertrophic cardiomyopathy from your parents and pass it on to your children. This means something is wrong with a gene that codes the characteristics of the heart muscle. There are many genes that can cause hypertrophic cardiomyopathy. When a gene defect is present, the type of hypertrophic cardiomyopathy that develops varies greatly within the family. Some people who have the hypertrophic cardiomyopathy gene may never develop the disease. […] High blood pressure. […] Aging. […] Sometimes the cause of hypertrophic cardiomyopathy is unknown.

• #1 Hypertrophic Cardiomyopathy – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/cardiomyopathies/hypertrophic-cardiomyopathy

  Most cases of hypertrophic cardiomyopathy are inherited. At least 1,500 different mutations that are inherited in an autosomally dominant pattern have been identified; spontaneous mutations can also occur. Prevalence is 1:200 to 1:500; phenotypic expression varies markedly. […] Rarely, hypertrophic cardiomyopathy is acquired. It may develop in patients with acromegaly, pheochromocytoma, or neurofibromatosis. […] Hypertrophic cardiomyopathy is usually due to one of numerous genetic mutations that cause various types of ventricular hypertrophy that restrict filling (ie, cause diastolic dysfunction) and sometimes obstruct LV outflow.

• #1 Frontiers | Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.632293/full

  Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. […] Pediatric HCM is a large heterogeneous group of disorders. Other than mutations in sarcomeric genes, which represent the most important cause of HCM in adults, childhood HCM includes a high prevalence of non-sarcomeric causes, including inherited errors of metabolism (i.e., glycogen storage diseases, lysosomal storage diseases, and fatty acid oxidation disorders), malformation syndromes, neuromuscular diseases, and mitochondrial disease, which globally represent up to 35% of children with HCM. […] The age of presentation and the underlying etiology significantly impact the prognosis of children with HCM. […] Therefore, the etiological diagnosis is a fundamental step in designing specific management and therapy in these subjects.

• #1 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/152913-overview

  Abnormally thickened intramural coronary arteries – These do not dilate normally, which leads to myocardial ischemia; this progresses to myocardial fibrosis and abnormal compensatory hypertrophy […] Subendocardial ischemia – This is related to abnormalities of the cardiac microcirculation that deplete the energy stores essential for the sequestration of calcium during diastole; subendocardial ischemia results in persistent interaction of the contractile elements during diastole and increased diastolic stiffness […] Cardiac structural abnormalities – These include a catenoid configuration of the septum, which results in myocardial cell hypertrophy and disarray.

• #1 Diagnosis and Management of Hypertrophic Cardiomyopathy: Updated Guidelines From the ACC/AHA | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0200/p207.html

  Several other common cardiac conditions also present with left ventricular hypertrophy, especially hypertensive cardiomyopathy and secondary remodeling from athletic activity. Aortic valvular abnormalities can also lead to left ventricular hypertrophy. Systemic and metabolic diseases such as amyloidosis, RASopathies (e.g., type 1 neurofibromatosis), glycogen and lysosomal storage diseases, as well as fat metabolism disorders can be associated with left ventricular hypertrophy that may mimic HCM. […] Implantable cardiac defibrillators reduce sudden cardiac death in those at increased risk.

• #1 Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5654557/

  The variability of the phenotype is due, at least in part, to the causal mutation acting in concert with a number of other genetic and of non-genetic influences. […] A subset of HCM patients, approximately 5%, exhibits two (digenic) or more (oligogenic) causal mutations in the same gene or causal mutations in different genes. […] The primary defect is the mutation. […] The initial defects in HCM, in accord with the diversity of HCM mutations, are also diverse. […] The mutations induce a set of initial changes, such as altered transcription rate and translation efficiency, changes in structure of the affected sarcomere protein, and sarcomere functions. […] HCM is caused by rare mutations. These mutations typically affect domains in genes that code for sarcomere and sarcomere-associated proteins.

• #1 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/152913-overview

  Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. This disorder is caused by a mutations in genes encoding cardiac sarcomere protein, resulting in variety of phenotypical expression and clinical course. HCM is the most common cause of sudden death in young people. […] Familial HCM occurs as an autosomal dominant Mendelian-inherited disease in approximately 50% of cases. Some, if not all, of the sporadic forms of the disease may be caused by spontaneous mutations. […] At least 6 different genes on at least 4 chromosomes are associated with HCM, with more than 50 different mutations discovered thus far. Familial HCM is a genetically heterogenous disease in that it can be caused by genetic defects at more than 1 locus. […] Other possible causes of HCM include the following: Abnormal sympathetic stimulation – Heightened responsiveness of the heart to the excessive production of catecholamines or the reduced neuronal uptake of norepinephrine might cause HCM

• #1 Hypertrophic cardiomyopathy | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/hypertrophic-cardiomyopathy?lang=us

  Morphologically there are several recognized subtypes or phenotypes of hypertrophic cardiomyopathy. It may be classified as asymmetric hypertrophic cardiomyopathy, symmetrical or concentric hypertrophic cardiomyopathy, apical hypertrophic cardiomyopathy (Yamaguchi syndrome), mid-ventricular hypertrophic cardiomyopathy, and mass-like hypertrophic cardiomyopathy.

• #1 Hypertrophic Cardiomyopathy: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/heart/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy is a genetic condition that may go undiagnosed for years. […] Hypertrophic cardiomyopathy is an inherited condition. […] Some forms of hypertrophic cardiomyopathy involve the abnormal structure of the heart muscle. […] In cases of obstructive hypertrophic cardiomyopathy, the heart muscle wall (septum) begins to thicken between the ventricles located at the bottom of the heart. […] This thickening can eventually stop the flow of blood from exiting the heart. […] When blood flow is not blocked from exiting the heart, the heart’s left ventricle (the pumping chamber) might begin to stiffen. […] HCM can also change the heart muscle cells (myofiber disarray), which may prompt arrhythmias.

• #1 Patient education: Hypertrophic cardiomyopathy (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/hypertrophic-cardiomyopathy-beyond-the-basics/print

  The majority of people with HCM have obstruction to blood flow out of the heart either at rest or with exertion, while the minority of people with HCM do not have obstruction to blood flow out of the heart („nonobstructive” HCM). […] A very small minority of people with HCM have an increased risk of developing a dangerous heart rhythm (arrhythmia), which can lead to sudden cardiac death (SCD).

• #1 Causes of Hypertrophic Cardiomyopathy Extend Beyond Genetic Factors – U.S. Medicine

  https://www.usmedicine.com/clinical-topics/cardiology/causes-of-hypertrophic-cardiomyopathy-extend-beyond-genetic-factors/

  BOSTON For three decades, hypertrophic cardiomyopathy has basically been considered to be a genetic disease. The cause was believed to be variants in individual genes encoding cardiac sarcomere proteins. […] Despite 60 years of study in thousands of patients of all ages, an uncertainty as to the cause of HCM persists, the authors wrote. […] While this postmonogenic era of HCM opens up the possibility to advance disease etiology into clinically relevant areas, the authors decried the time that has been lost, noting, Achieving this goal, however, requires acknowledging an uncomfortable realization: that overemphasis on the monogenic determinants of HCM over the past three decades has diverted time away from efforts to discover alternative disease mechanisms. […] Therefore, it is undeniable that genetic factors play a role in disease evolution for some patients with HCM, presumably as 1 or several potential triggers for susceptibility pathways, the study team wrote.

• #1 Hypertrophic Cardiomyopathy > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy is an inherited disorder in which the heart muscle becomes hypertrophied, or grows thicker than it should be. […] In some patients with hypertrophic cardiomyopathy, the changes in the heart directly relate to variations in one of several genes that regulate heart function and structure. These genetic variations can be passed from parents to their children, and often lead to multiple cases of hypertrophic cardiomyopathy within families. […] However, in the majority of patients with hypertrophic cardiomyopathy, the cause is less clear and cannot be attributed to a single gene variant. In these cases, multiple gene variants and/or environmental conditions may be contributing. […] Because of the inherited basis of hypertrophic cardiomyopathy, genetic testing may be recommended for the parents, siblings, and children of those diagnosed with the condition.

• #1 Hypertrophic Cardiomyopathy: Causes, Treatment and Research – Nova Science Publishers

  https://novapublishers.com/shop/hypertrophic-cardiomyopathy-causes-treatment-and-research/

  Hypertrophic cardiomyopathy (HCM) is the most common form of genetically inherited cardiovascular disease, with a prevalence of one in 500 individuals. […] This book describes recent advances in genetics which provide screening options for affected families, making it essential for modern cardiologists to understand the diagnostic, therapeutic, and prognostic implications of HCM genetic testing. […] The greatest challenge in the management of HCM is identifying individuals who are at an increased risk of sudden cardiac death. […] The obstructive form of HCM is also dealt with in this book with a description of the different catheter-based techniques for septal reduction.

• #1 Diagnosis of Hypertrophic Cardiomyopathy: What Every Cardiologist Needs to Know

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/02/25/06/34/Diagnosis-of-Hypertrophic-Cardiomyopathy

  Hypertrophic cardiomyopathy (HCM) is the most common inherited monogenic cardiac disorder, affecting 0.2-0.5% of the population. […] In the United States, 750,000 people are estimated to have HCM; however, only approximately 100,000 people have been diagnosed, signifying a large gap in the recognition and understanding of this disease. […] The diagnosis of HCM is confirmed with the presence of a left ventricular wall thickness of 15 mm that is otherwise unexplained by abnormal loading conditions (e.g., hypertension, valvular, congenital disease) or infiltrative cardiomyopathies. […] Unexplained left ventricular wall thickness of 13 mm is sufficient for diagnosis in relatives of individuals with HCM or those who are genotype positive. […] Genetically mediated phenocopies of HCM (e.g., Anderson-Fabry disease [GLA], Danon disease [LAMP2], Pompe disease [GAA], AMPK-mediated glycogen storage disease [PRKAG2], amyloidosis [TTR], Friedreich ataxia [FRDA], myotonic dystrophy [DMPK, ZNF9]) should be considered in the initial evaluation of left ventricular hypertrophy. […] Although genetic testing is not required for diagnosis of HCM, testing for causal/disease-associated genetic variants should be offered to the index patient (i.e., proband) if there is an atypical presentation or when another genetic condition is suspected.

• #1 Hypertrophic Cardiomyopathy | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy (HCM) is an inherited disease of the heart muscle. […] HCM is caused by changes in genes that help build the muscle of the heart. […] Genetic testing can help determine if family members will develop HCM. […] If genetic testing shows that they do carry the genetic mutation that causes HCM in the family then they are at increased risk for developing the symptoms and changes in the heart that are associated with HCM.

• #1 Diagnosis and Management of Hypertrophic Cardiomyopathy: Updated Guidelines From the ACC/AHA | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0200/p207.html

  Hypertrophic cardiomyopathy (HCM) is a heritable, autosomal dominant disorder of structural abnormalities confined to the heart. The prevalence of asymptomatic HCM is between one in 500 and one in 200 U.S. adults, whereas an undefined fraction has symptomatic disease. Among patients with HCM, risk of sudden cardiac death is highest at a younger age. HCM is the most common cause of sudden cardiac death in young people; it occurs in up to 10% of patients after diagnosis in childhood. […] Genetic variants are found in only 30% to 60% of patients with HCM. Because eight genes have been associated with HCM, often with multiple pathologic variants, pretest genetic counseling by a counselor versed in cardiac genetics is highly recommended. If no genetic variants are found, periodic reevaluation should be considered as new variants continue to be discovered and their significance further refined.

• #1 Causes of Hypertrophic Cardiomyopathy Extend Beyond Genetic Factors – U.S. Medicine

  https://www.usmedicine.com/clinical-topics/cardiology/causes-of-hypertrophic-cardiomyopathy-extend-beyond-genetic-factors/

  The report also detailed emerging evidence that argues for HCM research that integrates genetic context, post-transcriptional events, and acquired determinants of disease. […] These new perspectives in which HCM is not a uniformly genetic disease but likely explained by multifactorial etiology will also unavoidably impact how HCM is viewed by patients and families in the clinical practicing community going forward, including relevance to genetic counseling and access to healthcare insurance and psychosocial wellness. […] Regarding HCM as a disease solely of genetic etiology might have been misleading to patients and families, the authors added, suggesting that success in broadening the view will depend on the use of network medicine, functional genetics, and other contemporary methods.

• #1 Frontiers | Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.632293/full

  The present review aims to provide an overview of the non-sarcomeric causes of HCM in children, focusing on the pathophysiology, clinical features, diagnosis, and treatment of these rare disorders. […] Other than mutations in sarcomeric genes, which represent the most important cause of HCM both in adults and in children (40–60% of cases), the other causes of HCM include inherited errors of metabolism (i.e., glycogen storage diseases (GSDs), lysosomal storage diseases, and fatty acid oxidation disorders), neuromuscular diseases, malformation syndromes (i.e., RASopathies), and mitochondrial disease (Table 1), which globally represent up to 35% of children with HCM (2, 8). […] In recent years, several targeted approaches for specific etiologies of HCM have emerged (14, 15). Thus, the etiological diagnosis of HCM in children is a fundamental step in designing specific management and therapy in these subjects. […] The present review aims to provide an overview of the specific causes of HCM in children, focusing on the pathophysiology, diagnosis, and treatment of these rare disorders.

• #2 Hypertrophic Cardiomyopathy (HCM) | American Heart Association

  https://www.heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy is most often caused by abnormal genes in the heart muscle. These genes cause the walls of the heart chamber (left ventricle) to become thicker than normal. […] HCM is a chronic disease that can get worse over time. This can lead to poorer function and quality of life, long-term complications and more financial and social burden. […] Hypertrophic cardiomyopathy is often inherited and is a common form of genetic heart disease. It can happen at any age, but most receive a diagnosis in middle age. […] It’s estimated that as many as 1 in every 500 young people in the United States have HCM, but a large percentage of people are undiagnosed. […] HCM has been regarded as the most common cause of sudden cardiac death in young people and competitive athletes in North America, although it is rare.

• #2 Hypertrophic cardiomyopathy: Clinical manifestations, diagnosis, and evaluation – UpToDate

  https://www.uptodate.com/contents/hypertrophic-cardiomyopathy-clinical-manifestations-diagnosis-and-evaluation

  Hypertrophic cardiomyopathy (HCM) is a genetically determined heart muscle disease most often (60 to 70 percent) caused by mutations in one of several sarcomere genes which encode components of the contractile apparatus of the heart. […] HCM is characterized by left ventricular hypertrophy (LVH) of various morphologies, with a wide array of clinical manifestations and hemodynamic abnormalities. […] Depending in part upon the site and extent of cardiac hypertrophy, patients with HCM can develop one or more of the following abnormalities: LV outflow obstruction, diastolic dysfunction, myocardial ischemia.

• #2 Hypertrophic Cardiomyopathy – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/cardiomyopathies/hypertrophic-cardiomyopathy

  Most cases of hypertrophic cardiomyopathy are inherited. At least 1,500 different mutations that are inherited in an autosomally dominant pattern have been identified; spontaneous mutations can also occur. Prevalence is 1:200 to 1:500; phenotypic expression varies markedly. […] Rarely, hypertrophic cardiomyopathy is acquired. It may develop in patients with acromegaly, pheochromocytoma, or neurofibromatosis. […] Hypertrophic cardiomyopathy is usually due to one of numerous genetic mutations that cause various types of ventricular hypertrophy that restrict filling (ie, cause diastolic dysfunction) and sometimes obstruct LV outflow.

• #2 Hypertrophic cardiomyopathy – Wikipedia

  https://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy

  Approximately 40% of these mutations occur in the -myosin heavy chain gene on chromosome 14 q11.2-3, and approximately 40% involve the cardiac myosin-binding protein C gene. […] Whenever such a mutation is identified, family-specific genetic testing can be used to identify relatives at risk for the disease, although clinical severity and age of onset cannot be predicted. […] Over 1400 mutations have been identified in genes known to lead to HCM. […] Some mutations could have more harmful potential compared to others (-myosin heavy chain). […] The age at disease onset of HCM with MYH7 is earlier and leads to more severe symptoms.

• #2 Hypertrophic Cardiomyopathy Causes

  https://www.verywellhealth.com/hypertrophic-cardiomyopathy-causes-5221222

  Hypertrophic cardiomyopathy (HCM) is most often caused by genetic mutations that cause the heart muscle to thicken. HCM is generally inherited in an autosomal dominant manner. This means that the biological children of an affected parent each have a 50% chance of inheriting the genetic mutation. […] While mutations that cause HCM are usually passed down from a family member, usually in an autosomal dominant way, they can also be sporadic in some cases, meaning the mutation occurs randomly, without a parent being affected. […] The most common type of mutations that cause HCM are mutations in sarcomeric proteins in the heart. […] In people who have a sarcomere mutation, mutations in beta myosin heavy chain and myosin binding protein C3 are the most common causes. They are found in about 70% of cases.

• #2 Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5654557/

  Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes, and a non-dilated left ventricle with preserved or increased ejection fraction. […] Mutations in over a dozen genes encoding sarcomere-associated proteins cause HCM. MYH7 and MYBPC3, encoding -myosin heavy chain and myosin binding protein C, respectively, are the two most common genes involved, together accounting for about 50% of the HCM families. […] In approximately 40% of HCM patients the causal genes remain to be identified. […] HCM is an archetypical single gene disorder with an autosomal dominant pattern of inheritance, whereby a single mutation is usually sufficient to cause the disease, albeit with variable penetrance and expression. […] Approximately 60% of patients with HCM have a clearly recognizable familial disease.

• #2 Causes and Symptoms of Hypertrophic Cardiomyopathy – Mended Hearts

  https://mendedhearts.org/causes-and-symptoms-of-hypertrophic-cardiomyopathy/

  Hypertrophic cardiomyopathy (HCM) is a disease that creates an abnormal thickness of the heart muscle, making it harder for the heart to pump blood. HCM is the most common form of genetic heart disease, affecting about 1 in 500 people. […] Genetics is the primary cause of HCM. If a parent has HCM, it’s about 50% more likely their child will also have the condition. It’s important to know your family history since HCM has a genetic link. If you can report that a close relative had HCM, your provider will be more likely to screen you and catch it earlier. […] One study found about 40% of people with HCM have a subtype called nonfamilial HCM, meaning they don’t have a family history of the disease. […] This form of HCM is most often triggered by non-genetic conditions, such as: Aging, Uncontrolled high blood pressure, Medical conditions such as diabetes and thyroid disorders, which can lead to thickening of the heart muscle, Certain drugs, such as anabolic steroids, Some viral or bacterial infections that trigger inflammation (though this is rare).

• #2 Hypertrophic cardiomyopathy – Wikipedia

  https://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy

  HCM is most commonly inherited in an autosomal dominant pattern. […] It is often due to mutations in certain genes involved with making heart muscle proteins. […] Other inherited causes of left ventricular hypertrophy may include Fabry disease, Friedreich’s ataxia, and certain medications such as tacrolimus. […] Making the diagnosis of HCM often involves a family history or pedigree, an electrocardiogram, echocardiogram, and stress testing. […] Genetic testing may also be done. […] HCM can be distinguished from other inherited causes of cardiomyopathy by its autosomal dominant pattern, whereas Fabry disease is X-linked, and Friedreich’s ataxia is inherited in an autosomal recessive pattern. […] Currently, about 50-60% of people with a high index of clinical suspicion for HCM will have a mutation identified in at least one of nine sarcomeric genes.

• #2 Diagnosis and Management of Hypertrophic Cardiomyopathy: Updated Guidelines From the ACC/AHA | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0200/p207.html

  Several other common cardiac conditions also present with left ventricular hypertrophy, especially hypertensive cardiomyopathy and secondary remodeling from athletic activity. Aortic valvular abnormalities can also lead to left ventricular hypertrophy. Systemic and metabolic diseases such as amyloidosis, RASopathies (e.g., type 1 neurofibromatosis), glycogen and lysosomal storage diseases, as well as fat metabolism disorders can be associated with left ventricular hypertrophy that may mimic HCM. […] Implantable cardiac defibrillators reduce sudden cardiac death in those at increased risk.

• #2 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/152913-overview

  Abnormally thickened intramural coronary arteries – These do not dilate normally, which leads to myocardial ischemia; this progresses to myocardial fibrosis and abnormal compensatory hypertrophy […] Subendocardial ischemia – This is related to abnormalities of the cardiac microcirculation that deplete the energy stores essential for the sequestration of calcium during diastole; subendocardial ischemia results in persistent interaction of the contractile elements during diastole and increased diastolic stiffness […] Cardiac structural abnormalities – These include a catenoid configuration of the septum, which results in myocardial cell hypertrophy and disarray.

• #2 Causes of altered ventricular mechanics in hypertrophic cardiomyopathy: an in-silico study | BioMedical Engineering OnLine | Full Text

  https://biomedical-engineering-online.biomedcentral.com/articles/10.1186/s12938-021-00900-9

  In our study, we are particularly interested in modeling HCM hearts and establishing cause-effect relationships between previously described pathological mechanisms in HCM hearts and their effect on ventricular mechanics. […] We explored different combinations of these mechanisms to analyze their effect on ventricular mechanics. […] In a cohort of 59 HCM patients, Urbano-Moral et al. demonstrated the relation of a reduction in longitudinal shortening of the LV and the extent of hypertrophy. […] Furthermore, the reduction of the global strain and strain rate was correlated with the mean WT. […] In a clinical study, Villemain et al. suggested that altered LV relaxation might result from increased myocardial stiffness. […] Hoskins et al. hypothesized that reduced active force might contribute to systolic dysfunction in HCM patients.

• #2 Patient education: Hypertrophic cardiomyopathy (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/hypertrophic-cardiomyopathy-beyond-the-basics/print

  Hypertrophic cardiomyopathy (HCM) is a genetic disease that causes the heart muscle to become thickened, or hypertrophied. […] Hypertrophic cardiomyopathy (HCM) is a disorder caused by a „spelling mistake” (mutation) in one of a number of different genes which encode for the structure of the heart. […] The disorder is transmitted as an autosomal dominant trait. […] If a child does inherit the mutation, the most likely period in which the disease will develop (ie, the heart wall muscle thickening) is during puberty, although the severity of heart disease that will develop cannot be accurately predicted. […] In HCM, the muscular walls of the left ventricle become thickened. […] The mitral valve may also make an abnormal motion and contact the thickened septum during the ejection phase of blood out of the heart, which can cause obstruction of blood flowing out of the left ventricle (obstructive HCM).

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Hypertrophic-Cardiomyopathy-Symptoms-and-Causes.aspx

  Hypertrophic cardiomyopathy is caused by one or more gene mutations within the proteins of heart muscle cells. The condition is usually inherited and there is a 50% chance that each child born to a parent with hypertrophic cardiomyopathy will inherit the mutation for the disease. The condition may also develop as a result of aging, high blood pressure, diabetes or thyroid disease. […] The thickened ventricles may eventually obstruct blood flow from the heart and the disease is sometimes referred to as obstructive hypertrophic cardiomyopathy. When blood flow from the heart is not significantly restricted, the ventricular thickening can still decrease the chambers capacity to hold blood and therefore its ability to pump blood around the body. This is sometimes referred to as non-obstructive hypertrophic cardiomyopathy.

• #2 Discovering the causes of hypertrophic cardiomyopathy – BHF

  https://www.bhf.org.uk/what-we-do/our-research/research-successes/causes-of-hypertrophic-cardiomyopathy

  We have now known for over 25 years that HCM is caused by rare genetic faults in the machinery responsible for helping the heart muscle to contract and pump blood around the body. […] In 2021, BHF Professor Hugh Watkins and his team discovered that the inheritance of a different type of genetic fault called common variants – not involved in the contractile machinery, form a missing piece to this long-awaited puzzle. […] Another important finding is that people who have HCM due to the common variants alone are unlikely to pass the disease onto their children, which could help to reduce the need for genetic testing and regular follow-ups for family members.

• #2 Hypertrophic cardiomyopathy (HCM) – Victor Chang Cardiac Research Institute

  https://www.victorchang.edu.au/heart-disease/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy is an inherited condition that is estimated to affect between one in 200 and one in 500 people. […] Hypertrophic cardiomyopathy is an inherited condition, meaning it is usually passed down through families. […] A parent with the gene mutation has a 50 percent chance of passing it on to their child. However, not everyone with the gene mutation will go on to develop an enlarged heart muscle, and those who do may have varying degrees of disease severity.

• #2 Causes of Hypertrophic Cardiomyopathy Extend Beyond Genetic Factors – U.S. Medicine

  https://www.usmedicine.com/clinical-topics/cardiology/causes-of-hypertrophic-cardiomyopathy-extend-beyond-genetic-factors/

  The report also detailed emerging evidence that argues for HCM research that integrates genetic context, post-transcriptional events, and acquired determinants of disease. […] These new perspectives in which HCM is not a uniformly genetic disease but likely explained by multifactorial etiology will also unavoidably impact how HCM is viewed by patients and families in the clinical practicing community going forward, including relevance to genetic counseling and access to healthcare insurance and psychosocial wellness. […] Regarding HCM as a disease solely of genetic etiology might have been misleading to patients and families, the authors added, suggesting that success in broadening the view will depend on the use of network medicine, functional genetics, and other contemporary methods.

• #2 Diagnosis and Management of Hypertrophic Cardiomyopathy: Updated Guidelines From the ACC/AHA | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0200/p207.html

  Hypertrophic cardiomyopathy (HCM) is a heritable, autosomal dominant disorder of structural abnormalities confined to the heart. The prevalence of asymptomatic HCM is between one in 500 and one in 200 U.S. adults, whereas an undefined fraction has symptomatic disease. Among patients with HCM, risk of sudden cardiac death is highest at a younger age. HCM is the most common cause of sudden cardiac death in young people; it occurs in up to 10% of patients after diagnosis in childhood. […] Genetic variants are found in only 30% to 60% of patients with HCM. Because eight genes have been associated with HCM, often with multiple pathologic variants, pretest genetic counseling by a counselor versed in cardiac genetics is highly recommended. If no genetic variants are found, periodic reevaluation should be considered as new variants continue to be discovered and their significance further refined.

• #2 Hypertrophic Cardiomyopathy Treatment At The University Of Kansas Health System

  https://www.kansashealthsystem.com/care/conditions/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy, or HCM, is a type of heart disease that causes hardening or thickening of the heart chamber walls. This makes it difficult for the heart to pump blood. HCM is a genetic condition that can result in severe complications, such as advanced heart failure. […] HCM is the most common inherited heart condition, affecting about 1 in 500 people. […] This disease is autosomal dominant. That means it requires only 1 gene from 1 parent to pass to the child. If a parent has the abnormal gene, each child has a 50% chance of inheriting the disease. […] Your cardiologist may order tests to determine whether your symptoms are caused by HCM. Once a diagnosis of hypertrophic cardiomyopathy is made, your care team will develop a treatment plan that may include medications, heart surgery or a minimally invasive procedure. HCM can progress over time, so be sure to continue with regular screenings. […] HCM can be treated a number of ways. Your HCM treatment will be determined by your doctor and care team.

• #2 Hypertrophic Cardiomyopathy (HCM) | Conditions & Treatments | UR Medicine

  https://www.urmc.rochester.edu/conditions-and-treatments/hypertrophic-cardiomyopathy

  Hypertrophic Cardiomyopathy (HCM) is usually an inherited disease, although other problems such as high blood pressure, thyroid disease, and aging may play a role. […] HCM is a genetic disease. Genetic testing is offered to all patients with a diagnosis of HCM. Test results are confidential. If a genetic cause of HCM is found with testing, then screening for that specific gene mutation can be offered to other family members to better understand their risk.

• #2 Causes of Hypertrophic Cardiomyopathy Extend Beyond Genetic Factors – U.S. Medicine

  https://www.usmedicine.com/clinical-topics/cardiology/causes-of-hypertrophic-cardiomyopathy-extend-beyond-genetic-factors/

  BOSTON For three decades, hypertrophic cardiomyopathy has basically been considered to be a genetic disease. The cause was believed to be variants in individual genes encoding cardiac sarcomere proteins. […] Despite 60 years of study in thousands of patients of all ages, an uncertainty as to the cause of HCM persists, the authors wrote. […] While this postmonogenic era of HCM opens up the possibility to advance disease etiology into clinically relevant areas, the authors decried the time that has been lost, noting, Achieving this goal, however, requires acknowledging an uncomfortable realization: that overemphasis on the monogenic determinants of HCM over the past three decades has diverted time away from efforts to discover alternative disease mechanisms. […] Therefore, it is undeniable that genetic factors play a role in disease evolution for some patients with HCM, presumably as 1 or several potential triggers for susceptibility pathways, the study team wrote.

• #3 About Hypertrophic Cardiomyopathy (HCM) | Heart Disease, Family Health History, and Familial Hypercholesterolemia | CDC

  https://www.cdc.gov/heart-disease-family-history/about/about-hypertrophic-cardiomyopathy-hcm-and-family-health-history-of-sudden-death.html

  Hypertrophic cardiomyopathy is a common genetic disorder that affects about 1 in 500 people and causes the heart muscle to become thicker and stiff. […] HCM is caused by changes in genes that control the production of heart muscle proteins. You only need a change in one copy of the gene to develop HCM.

• #3 Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5654557/

  Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes, and a non-dilated left ventricle with preserved or increased ejection fraction. […] Mutations in over a dozen genes encoding sarcomere-associated proteins cause HCM. MYH7 and MYBPC3, encoding -myosin heavy chain and myosin binding protein C, respectively, are the two most common genes involved, together accounting for about 50% of the HCM families. […] In approximately 40% of HCM patients the causal genes remain to be identified. […] HCM is an archetypical single gene disorder with an autosomal dominant pattern of inheritance, whereby a single mutation is usually sufficient to cause the disease, albeit with variable penetrance and expression. […] Approximately 60% of patients with HCM have a clearly recognizable familial disease.

• #3 Hypertrophic cardiomyopathy | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/hypertrophic-cardiomyopathy?lang=us

  Hypertrophic cardiomyopathy (HCM) is a type of cardiomyopathy defined by left ventricular hypertrophy which cannot otherwise be explained by another cardiac or systemic disease. It is the leading cause of sudden cardiac death in infants, teenagers, and young adults. […] Hypertrophic cardiomyopathy is characterized by left ventricular hypertrophy (wall thickness 12-15 mm; normal wall thickness is 12 mm or less, measured during diastole) without obvious etiology. […] Hypertrophic cardiomyopathy is an autosomal dominant genetic disorder with incomplete penetrance involving the cardiac sarcomere. Mutations in a group of related genes that make up the cardiac sarcomere are found in up to 60% of individuals with a family history of HCM and 30% of those without a family history. Commonly affected genes include MYBPC3 (myosin binding protein), MYH7 (myosin heavy chain), TNNT2 (cardiac muscle troponin), TNNI3 (troponin I type 3), MYL2 (myosin light chain 2), MYL3 (myosin light chain 3), and TPM1 (tropomyosin 1).

• #3 Hypertrophic Cardiomyopathy | Inova

  https://www.inova.org/our-services/inova-schar-heart-and-vascular/specialty-programs-services/cardiomyopathy-program/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy is a hereditary medical condition that affects approximately one in 500 Americans. It causes increased heart wall thickness (hypertrophy), which can block blood from leaving the heart. The increased wall thickness can also result in higher rates of arrhythmias and the development of heart failure. […] Since the underlying cause of hypertrophic cardiomyopathy is genetic, multiple family members can be affected. […] Hypertrophic cardiomyopathy is a genetic disease that can be inherited from a persons parents. Genetic changes (mutations) alter proteins that make up heart cells, which results in excessive thickening of the hearts left ventricle. How exactly this happens is not yet clear. […] Hypertrophic cardiomyopathy is typically inherited in an autosomal dominant manner. This means you need an abnormal gene from only one of your parents to cause hypertrophic cardiomyopathy. However, even if you have an abnormal gene associated with hypertrophic cardiomyopathy, it does not mean you will definitively develop the disease. Researchers are still trying to understand what other factors increase or decrease an individuals chance of having the disease.

• #3 Causes of altered ventricular mechanics in hypertrophic cardiomyopathy: an in-silico study | BioMedical Engineering OnLine | Full Text

  https://biomedical-engineering-online.biomedcentral.com/articles/10.1186/s12938-021-00900-9

  Hypertrophic cardiomyopathy (HCM) is typically caused by mutations in sarcomeric genes leading to cardiomyocyte disarray, replacement fibrosis, impaired contractility, and elevated filling pressures. […] In HCM hearts, fibrosis and myocardial cell disarray can be present and might have evolved for years before the onset of symptoms. […] Further structural abnormalities in HCM were detected by SWI on an organ level: passive ventricular stiffness was significantly higher in HCM compared to the control group. […] In HCM, increased stiffness on the organ level could not be explained by an alteration in the viscoelastic properties of the cardiac myocytes, since the passive stiffness of prepared HCM cardiac myocytes was measured to be the same as healthy donor myocytes. […] A combination of pathological mechanisms led to reduced and slower deformation of the LV and halved the longitudinal shortening of the LA.

• #3 Causes of altered ventricular mechanics in hypertrophic cardiomyopathy: an in-silico study | BioMedical Engineering OnLine | Full Text

  https://biomedical-engineering-online.biomedcentral.com/articles/10.1186/s12938-021-00900-9

  An alteration of the wall thickening and the strain time course during the systole can be related to hypertrophic LV walls. […] Reduced ES wall thickening and strain values (circumferential and radial) in all segments can be related to less active force development in the LV. […] A homogeneous distribution of the ES wall thickening and strains among all AHA segments can be related to stiffer tissue. […] A reduction of the circumferential strain can be attributed to the fiber disarray in the mid-wall of the LV, but also to less active force development or increased stiffness of the tissue. […] Strain rates that are reduced during the entire systole and strongly reduced during the beginning of the systole can be traced back to increased tissue stiffness. […] Strain rates that are reduced during the entire heart cycle are caused by reduced active tension developed in the tissue. […] A reduced longitudinal strain of the LA at ES was present in case of increased stiffness of the tissue or reduced active tension development.

• #3 Causes of Hypertrophic Cardiomyopathy Extend Beyond Genetic Factors – U.S. Medicine

  https://www.usmedicine.com/clinical-topics/cardiology/causes-of-hypertrophic-cardiomyopathy-extend-beyond-genetic-factors/

  BOSTON For three decades, hypertrophic cardiomyopathy has basically been considered to be a genetic disease. The cause was believed to be variants in individual genes encoding cardiac sarcomere proteins. […] Despite 60 years of study in thousands of patients of all ages, an uncertainty as to the cause of HCM persists, the authors wrote. […] While this postmonogenic era of HCM opens up the possibility to advance disease etiology into clinically relevant areas, the authors decried the time that has been lost, noting, Achieving this goal, however, requires acknowledging an uncomfortable realization: that overemphasis on the monogenic determinants of HCM over the past three decades has diverted time away from efforts to discover alternative disease mechanisms. […] Therefore, it is undeniable that genetic factors play a role in disease evolution for some patients with HCM, presumably as 1 or several potential triggers for susceptibility pathways, the study team wrote.

• #3 Hypertrophic Cardiomyopathy | Boston Medical Center

  https://www.bmc.org/patient-care/conditions-we-treat/db/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac condition, occurring in at least one out of every 500 adults. […] HCM is often caused by a change (or „mutation”) in one of many genes that are responsible for helping coordinate the contraction and relaxation of the heart muscle. […] A person with a mutation has a 50 percent chance of passing on the mutation to each of their children. […] In families with HCM, usually around 50 percent of members are affected. […] Genetic testing can help us differentiate HCM from other cardiac diseases (especially HCM mimics, which also increase heart muscle wall thickness) and make a definitive diagnosis. […] With genetic testing, we can identify which family members of a person with HCM are at risk of developing the condition themselves.

• #3 Hypertrophic Cardiomyopathy (HCM) | Pediatric Cardiomyopathy

  https://www.cincinnatichildrens.org/service/c/cardiomyopathy/types/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy (HCM) is a condition of heart muscle disease in which the muscle is thickened (hypertrophic). […] HCM is largely a genetic condition. When an individual is diagnosed with HCM, there is a 40 to 70 percent chance that an underlying genetic cause will be identified. Most commonly, the genetic cause results in a condition that runs in a family and affects only the heart. […] Hypertrophy can be acquired and is not always genetic. For example, hypertrophy can result from high blood pressure that has gone untreated or poorly controlled for a period of time. Individuals who are endurance athletes can also develop hypertrophy. In some people, the cause of HCM is unknown.

• #3 Hypertrophic Cardiomyopathy > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy is an inherited disorder in which the heart muscle becomes hypertrophied, or grows thicker than it should be. […] In some patients with hypertrophic cardiomyopathy, the changes in the heart directly relate to variations in one of several genes that regulate heart function and structure. These genetic variations can be passed from parents to their children, and often lead to multiple cases of hypertrophic cardiomyopathy within families. […] However, in the majority of patients with hypertrophic cardiomyopathy, the cause is less clear and cannot be attributed to a single gene variant. In these cases, multiple gene variants and/or environmental conditions may be contributing. […] Because of the inherited basis of hypertrophic cardiomyopathy, genetic testing may be recommended for the parents, siblings, and children of those diagnosed with the condition.

• #4 Hypertrophic cardiomyopathy (HCM): Causes and treatments

  https://www.medicalnewstoday.com/articles/hcm-heart

  Hypertrophic cardiomyopathy (HCM) is usually the result of genetic changes that affect the heart muscle. These changes cause the walls of the heart muscle to become excessively thick, which makes it more difficult for the heart to pump blood. […] HCM is congenital, which means that it is present at birth. The condition is heritable, and a person with a biological parent with HCM has a 50% chance of inheriting the risk of developing the condition. […] HCM is due to changes in genes. The genes most commonly involved in the development of HCM are: MYH7, MYBPC3, TNNT2, TNNI3. […] Experts are not yet completely sure why mutations in these genes lead to a buildup of the heart muscle wall. […] A person cannot prevent HCM, as it is an inherited condition. However, they can help prevent complications of the condition by working with a doctor to find the right treatment plan for them. […] Hypertrophic cardiomyopathy occurs when genetic changes inherited from biological parents cause the heart muscle to become excessively thick. This can make it more difficult for the heart to pump blood effectively.

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