Materiały źródłowe

• #1 Differing strategies for sudden death prevention in hypertrophic cardiomyopathy – PubMed

  https://pubmed.ncbi.nlm.nih.gov/36270782/

  Sudden death (SD) has traditionally been the most visible and feared complication of hypertrophic cardiomyopathy (HCM). […] Prevention of SD in HCM has resulted from introduction of primary prevention ICDs that reliably terminate life-threatening ventricular tachyarrhythmias, as well as a matured risk stratification algorithm capable of reliably identifying those patients at highest risk. […] This initiative has been a major determinant of reducing HCM-related mortality to a low rate of 0.5%/year. […] Major cardiovascular societies, American Heart Association/American College of Cardiology in the USA and European Society of Cardiology in Europe have promoted different risk stratification guidelines creating the potential for judging SD risk in a given HCM patient differently based on commitment to a particular societal guideline or country of residence. […] In this review, we provide a critical but balanced assessment of these two divergent SD prevention strategies with regard to their respective strengths and weaknesses, as a guide to clinicians directly engaged in this important management issue.

• #2 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

  You might need to be screened for hypertrophic cardiomyopathy (HCM), a genetic condition that causes the heart muscle to become thick and can lead to sudden death. […] Finding HCM early can lead to better health outcomes. […] When collecting your family health history to assess your risk for HCM, include information on family members who died suddenly, especially if they were younger than age 40. […] Update information regularly, and let your healthcare provider know about any new diagnoses, cardiac events, or sudden deaths in your family. […] If you or your child has HCM, the healthcare provider may recommend regular monitoring: Adults need to see a cardiologist (heart healthcare provider) every 3-5 years to look for changes in the heart using echocardiogram, electrocardiogram (ECG), and checking for symptoms of HCM. […] While these steps cannot prevent HCM, they can help keep your heart as healthy as possible and decrease your likelihood of developing complications.

• #3 Differing strategies for sudden death prevention in hypertrophic cardiomyopathy | Heart

  https://heart.bmj.com/content/109/8/589

  Sudden death (SD) has traditionally been the most visible and feared complication of hypertrophic cardiomyopathy (HCM). […] Prevention of SD in HCM has resulted from introduction of primary prevention ICDs that reliably terminate life-threatening ventricular tachyarrhythmias, as well as a matured risk stratification algorithm capable of reliably identifying those patients at highest risk. […] The ICD has been a major determinant of reduction in the HCM-related mortality rate to 0.5%/year (10-fold lower than in the pre-ICD era), similar in all age groups including young patients generally considered to be at the highest risk. […] Notably, implementation of the major risk factor strategy with primary prevention ICDs over the last two decades has been a major determinant of the observed significant reduction in HCM-related mortality from as high as 6%/year in pre-ICD eras to the current low rate of 0.5%/year now reported from tertiary centres. […] All high-risk HCM patients deserve access to the most effective management strategy for SD prevention.

• #4 2020 AHA/ACC Guidelines on hypertrophic cardiomyopathy: a paradigm shift

  https://www.escardio.org/Working-groups/Working-Group-on-Myocardial-and-Pericardial-Diseases/Publications/Paper-of-the-Month/2020-aha-acc-guidelines-on-hypertrophic-cardiomyopathy-a-paradigm-shift

  In the last decades, novel treatment strategies targeting subgroups of patients with HCM have been introduced, however, causing controversy about their special indications and outcome. […] For primary sudden cardiac death prevention in HCM, the new guidelines recommend a comprehensive, systematic non-invasive assessment with the aid of clinical risk factors. […] Finally, these guidelines introduce an important lifestyle recommendation on physical activity and sports, which are encouraged for most patients with HCM who could gain some benefit from mild to moderate intensity recreational exercise.

• #5 Hypertrophic Cardiomyopathy Prevention: Diet Tips

  https://www.healthline.com/health/heart-disease/diet-reduce-hypertrophic-cardiomyopathy-risk

  If you have a family member with HCM, its important to have regular screening for the condition. When diagnosed early, treatment can help manage symptoms and prevent long-term effects. […] Along with routine screening, following a heart-healthy lifestyle is recommended for people at risk of HCM. That includes things like: staying active, maintaining a moderate weight, managing stress, getting enough sleep. […] If you have a family history of HCM, regular screening to monitor for HCM is important. Its also recommended to follow a heart-healthy diet. Heart-healthy eating can help manage cholesterol, blood sugar, and blood pressure. These are all other risk factors for heart disease. […] A dietary pattern rich in beans, nuts, seeds, whole grains, vegetables, fruits, fish, and olive oil is associated with lower rates of heart disease.

• #6 Hypertrophic Cardiomyopathy (HCM). Symptoms & Causes – Heart Foundation NZ

  https://www.heartfoundation.org.nz/your-heart/heart-conditions/hypertrophic-cardiomyopathy

  If you have HCM, your first-degree relatives (parents, brothers, sisters or children) may want to consider screening for the condition. […] If you have HCM, its important to talk to your doctor about further screening for your children and other first degree relatives (brothers, sisters and parents). This screening will include an ECG and/or echocardiography. […] Genetic testing for HCM may be useful for family screening, but should be done with pre-testing advice and within a specialised cardiac genetics service, such as the Cardiac Inherited Disease Group. […] Hypertrophic cardiomyopathy cant be cured, but treatments can help reduce your symptoms and lower your risk of complications such as atrial fibrillation or heart failure. […] People who continue to experience lots of symptoms even on medication, or are at risk of a life-threatening heart rhythm problem, may also need one of the following:

• #6 Hypertrophic Cardiomyopathy (HCM). Symptoms & Causes – Heart Foundation NZ

  https://www.heartfoundation.org.nz/your-heart/heart-conditions/hypertrophic-cardiomyopathy

  Its important to talk to your cardiologist about exercise thats safe for you. Because theres a risk of sudden cardiac death in people with hypertrophic cardiomyopathy, competitive sports and very intense athletic training are usually not recommended. […] However, low to moderate intensity, non-competitive forms of exercise are recommended for most people. Exercise is important for your mental health and well-being and will also reduce your risk of other kinds of heart disease. […] Being overweight puts extra strain on your heart so its important to follow heart healthy eating guidelines. […] Ask your doctor for advice about food and alcohol specific to you.

• #7 Hypertrophic Cardiomyopathy (HCM): Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/heart-health/hypertrophic-cardiomyopathy/

  There is no known way to prevent HCM. […] Experts recommend children with a family history of HCM to begin screening with an echocardiogram starting around age 12. Screening should be done every one to three years until age 21; after that, screenings can be done every five years. […] Visit a cardiologist regularly, even if you don’t have any HCM symptoms. This is the best way to preserve your long-term heart health.

• #8 ICD Therapy for Primary Prevention in Hypertrophic Cardiomyopathy | AER Journal

  https://www.aerjournal.com/articles/icd-therapy-primary-prevention-hypertrophic-cardiomyopathy?language_content_entity=en

  The current ACCF/AHA recommendations for ICD implantation are summarised below. […] ICD therapy should be recommended to individuals with a documented history of cardiac arrest, VF or haemodynamically-significant VT. […] ICD implantation is considered reasonable when patients have any of the following established risk markers: sudden death in one or more first-degree relatives; maximal LV wall thickness 30 mm; or a recent and unexplained syncopal event. […] The fully subcutaneous ICD provides the benefits of preventing SCD with a completely extracardiac system. […] The S-ICD appears to be effective in safely terminating VT/VF in patients with HCM. […] The totality of evidence suggests that an S-ICD may be the optimal option in many patients with HCM, especially in young patients who should not be subjected to the risk of transvenous lead failure if it can be avoided.

• #8 ICD Therapy for Primary Prevention in Hypertrophic Cardiomyopathy | AER Journal

  https://www.aerjournal.com/articles/icd-therapy-primary-prevention-hypertrophic-cardiomyopathy?language_content_entity=en

  Hypertrophic cardiomyopathy (HCM) is a common and heterogeneous disorder that increases an individuals risk of sudden cardiac death (SCD). […] The primary prevention of SCD with implantable cardioverter-defibrillator (ICD) therapy is the cornerstone of modern treatment for individuals at high risk of SCD. […] The advent of the implantable cardioverter-defibrillator (ICD) has drastically changed our ability to prevent SCD. […] In the current era of ICD implantation there are many patients on antiarrhythmic therapy who still receive appropriate ICD discharges to terminate VT/VF. […] Current and previous guidelines have found that there is no evidence for the use of medical therapy alone in the prevention of SCD. […] The efficacy of ICD implantation specifically for the prevention of SCD in the HCM population was first studied in a group of 128 high-risk patients.

• #8 ICD Therapy for Primary Prevention in Hypertrophic Cardiomyopathy | AER Journal

  https://www.aerjournal.com/articles/icd-therapy-primary-prevention-hypertrophic-cardiomyopathy?language_content_entity=en

  Since then, several large multicentre studies have been completed that support the findings that ICDs are effective at terminating malignant arrhythmias with rates of therapy between 4 and 6 % per year. […] The primary difficulty for the clinician arises when trying to select patients for whom the risks are outweighed by the benefits of ICD implantation. […] Although the current mortality rate of HCM is low, there are groups of patients with an elevated risk of SCD who would benefit from ICD placement. […] The guidelines recommend that all patients should undergo SCD risk stratification at their initial evaluation, as well as periodic re-evaluation to determine whether their risk of SCD has changed. […] The current ACCF/AHA guidelines on ICD implantation are an evolution of the shared ACCF and European Society of Cardiology (ESC) guidelines written in 2003.

• #9 SciELO Brazil – Prevention of Sudden Cardiac Death in Hypertrophic Cardiomyopathy: What has Changed in The Guidelines? Prevention of Sudden Cardiac Death in Hypertrophic Cardiomyopathy: What has Changed in The Guidelines?

  https://www.scielo.br/j/abc/a/Zd5jtmnZJBW4ZnYGvcR9pvH/

  According to the American College of Cardiology Foundation/American Heart Association (ACCF/AHA) recommendations for the diagnosis and treatment of HCM published in 2011, the presence of at least one risk factor for SCD [maximal left ventricular (LV) wall thickness 30 mm, unexplained syncope, nonsustained ventricular tachycardia (NSVT), family history of sudden death and abnormal blood pressure response during exercise] is a class IIa recommendation for the implantation of ICD in primary prevention. […] The gold-standard treatment for primary and secondary prevention of SCD in patients with HCM is ICD implantation, which proved effective in interrupting potentially lethal ventricular tachyarrhythmias, altering the disease’s natural history. […] The strategy of conventional risk stratification prioritizes SCD prevention in patients with HCM versus excessive ICD implantation. On the contrary, the new risk score seems to identify many patients at low risk, who are not candidates for ICD implantation. There is, thus, a significant reduction in the number of devices implanted, but it seems at the cost of misclassifying some patients at high risk for arrhythmic events and SCD.

• #10 SciELO Brazil – Prevention of Sudden Death in Hypertrophic Cardiomyopathy Prevention of Sudden Death in Hypertrophic Cardiomyopathy

  https://www.scielo.br/j/abc/a/xrhyR6McsFKRMqZn75dVKjc/

  The two largest multicentric studies grounded in the American guidelines showed that for primary prevention ICD indication, in 75% of cases, the devices were used in 4%/year, whereas for the secondary prevention, intervention rates were 12%/year in 25% of cases. […] The 2014 European Guidelines (ESC) recommended a new sudden-death risk model based on a longitudinal, retrospective, multicenter study risk calculation model and seven variables – age, history of SD, syncope, wall thickness, left atrial diameter, left ventricular outflow gradient and nonsustained ventricular tachycardia. […] This risk prediction model, validated in Europe and in South America, was shown to better predict individual risks as compared with that used in North America and Canada societies. […] We can affirm that, despite continuous advances in knowledge, the assessment of SD risk in HCM is limited to a small number of patients (5%) and is still a great challenge.

• #11 Prevention of Sudden Cardiac Death in Hypertrophic Cardiomyopathy: What has Changed in The Guidelines? – ABC Cardiol

  https://abccardiol.org/en/article/prevention-of-sudden-cardiac-death-in-hypertrophic-cardiomyopathywhat-has-changed-in-the-guidelines/

  The new European Society of Cardiology guidelines for hypertrophic cardiomyopathy (HCM) define the estimation of sudden cardiac death (SCD) risk as an integral part of clinical management. An implantable cardioverter defibrillator (ICD) is recommended (class IIa) when the risk is 6%. […] Significant differences were found when comparing the SCD risk stratification for ICD implantation in the two guidelines. The current SCD risk score seems to identify many low-risk patients who are not candidates for ICD implantation. The use of this new score results in a significant reduction in the number of ICD implanted.

• #12

  https://link.springer.com/article/10.1007/s11886-000-0037-y

  Sudden unexpected death, often occurring in young asymptomatic patients, is the most devastating facet of the natural history of hypertrophic cardiomyopathy (HCM). […] Treatment strategies for the prevention of sudden death are now available. In particular, the implantable cardioverter-defibrillator has a high degree of efficacy in sensing and terminating potentially lethal ventricular tachyarrhythmias and a life-saving role in both the primary and secondary prevention of sudden cardiac death in HCM. […] Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. […] First substantial series of HCM patients documenting efficacy and role of the implantable defibrillator in sudden death prevention.

• #13 Hypertrophic cardiomyopathy: genetics and clinical perspectives – Wolf – Cardiovascular Diagnosis and Therapy

  https://cdt.amegroups.org/article/view/24557/26222

  According to the European and North-American guidelines, an ICD is recommended as secondary prevention in HCM patients who have survived a cardiac arrest caused by ventricular fibrillation or sustained ventricular tachycardia. […] For primary prevention, ICD indication is based on multiple clinical factors identified as risk factors for malignant arrhythmias and sudden cardiac death by large studies. […] An online available risk prediction model for sudden cardiac death in HCM was developed based on a cohort of 3,675 patients from six centers. […] Results of molecular diagnostics need to be taken into consideration since patients with compound mutations or patients carrying mutations in the cardiac troponin T are at higher risk for sudden cardiac death. […] Recent studies provide evidence that late gadolinium enhancement on CMR with contrast counts as risk factor for malignant arrhythmias.

• #13 Hypertrophic cardiomyopathy: genetics and clinical perspectives – Wolf – Cardiovascular Diagnosis and Therapy

  https://cdt.amegroups.org/article/view/24557/26222

  In the presence of LVOT obstruction, diastolic dysfunction and heart failure, beta-blockers are the most commonly used pharmacological agents and the first choice in the absence of a contraindication. […] The benefits of beta-blockers on mortality and the risk of SCD in patients with HCM and their impact on prevention or reversal of cardiac hypertrophy in HCM remains to be established. […] The conventionally used pharmacological agents in treatment of patients with HCM have not been shown to reverse or attenuate established cardiac hypertrophy and fibrosis, although adverse remodeling is a major determinant of mortality and morbidity in patients with HCM. […] Thus, effective treatment of HCM needs to target the molecular mechanisms that are involved in the pathogenesis of the phenotype.

• #13 Hypertrophic cardiomyopathy: genetics and clinical perspectives – Wolf – Cardiovascular Diagnosis and Therapy

  https://cdt.amegroups.org/article/view/24557/26222

  Pharmacological strategies aimed at preventing development of LV hypertrophy and adverse remodeling stage have been proposed, based on encouraging preclinical data with agents such as statins, losartan, diltiazem and others. […] Although some preliminary studies in humans suggested a similar effect of those therapies in humans, data at this point are contradictory and multiple clinical trials are currently ongoing. […] Care needs to be taken since any medication that may cause peripheral vasodilation and afterload reduction, intravascular volume depletion, or positive inotropy can worsen the LV-outflow tract obstruction and should be avoided in patients with HCM and obstructive physiology.

• #14 Cardiomyopathy – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cardiomyopathy/symptoms-causes/syc-20370709

  Inherited types of cardiomyopathy can’t be prevented. Let your healthcare professional know if you have a family history of the condition. […] You can help lower the risk of acquired types of cardiomyopathy, which are caused by other conditions. Take steps to lead a heart-healthy lifestyle, including: […] Stay away from alcohol or illegal drugs such as cocaine. […] Control any other conditions you have, such as high blood pressure, high cholesterol or diabetes. […] Eat a healthy diet. […] Get regular exercise. […] Get enough sleep. […] Lower your stress. […] These healthy habits also can help people with inherited cardiomyopathy control their symptoms.

• #15 Hypertrophic Cardiomyopathy Treatment & Management: Approach Considerations, Left Ventricular Myomectomy and Mitral Valve Replacement, Pacemaker Implantation

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

  Patients must abstain from highly strenuous competitive athletic activity and highly strenuous physical exertion, such as shoveling snow or lifting very heavy objects, due to the high risk of arrhythmogenic sudden cardiac death. No acceptable medical recommendation deviates from total abstinence from these activities. […] Avoid strenuous exercise. Competitive-level sports should not be permitted if any of the following is present: significant outflow gradient, significant ventricular or supraventricular arrhythmia, marked LV hypertrophy, history of sudden death in relatives with hypertrophic cardiomyopathy (HCM), identified malignant genotype, young age (30 years), abnormal blood pressure response to exercise, history of syncope, particularly in children. […] Cardiovascular screening before participation in competitive sports appears to reduce the frequency of unexpected sudden death from HCM, although whether large-scale screening of athletes is administratively feasible or cost-effective remains to be determined.

• #16 Lifestyle Changes for Hypertrophic Cardiomyopathy

  https://www.healthline.com/health/heart/lifestyle-tips-hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy (HCM) is a hereditary chronic condition that causes the heart muscle to thicken, making it harder to pump blood. Theres no cure for HCM, but medications may help alleviate symptoms and improve overall heart function. […] Your doctor may recommend lifestyle changes before medications, especially if your condition is asymptomatic. […] Low to moderate-intensity exercises, such as yoga, tai chi, and walking, instead of more vigorous activities, like running or contact sports, may be beneficial. […] Dietary changes and regular exercise can also help you maintain a moderate weight. This is an essential consideration for HCM because being above a moderate weight can further stress your heart. […] Regular stress management can help maintain your heart health, but it may be especially helpful if HCM is causing you anxiety.

• #16 Lifestyle Changes for Hypertrophic Cardiomyopathy

  https://www.healthline.com/health/heart/lifestyle-tips-hypertrophic-cardiomyopathy

  If you smoke, its a good idea to quit or reduce smoking especially if youve been diagnosed with HCM. […] Getting enough sleep is crucial for everyone, but prioritizing healthy sleep hygiene can also reduce your risk of heart complications when you have HCM. […] Ask your doctor whether its safe for you to drink alcohol. Research suggests alcohol may increase blood pressure and possibly worsen obstructed blood flow in HCM. […] Overall, HCM has a positive outlook. Treatment and lifestyle changes can help people with HCM have an average life expectancy. […] However, if you experience changes in symptoms, such as chest pain, fatigue, or swelling in your body, its vital to report these to your doctor right away.

• #17 Hypertrophic Cardiomyopathy (HCM) | Heart and Vascular

  https://health.ucdavis.edu/conditions/hypertrophic-cardiomyopathy

  Our heart specialists offer the latest therapies to help you manage HCM while protecting your heart. […] If your physician diagnoses you with HCM or it runs in your family, heart-healthy choices can boost your heart and overall health. Consider: […] Limiting fluid and salt (sodium) intake […] Exercising with care (talk with your physician beforehand) […] Limiting or avoiding alcohol consumption […] Maintaining a healthy weight […] Managing chronic conditions like diabetes or sleep apnea […] Quitting smoking or other tobacco use.

• #18 Lifestyle Changes for Hypertrophic Cardiomyopathy | NYU Langone Health

  https://nyulangone.org/conditions/hypertrophic-cardiomyopathy/treatments/lifestyle-changes-for-hypertrophic-cardiomyopathy

  NYU Langone heart specialists often recommend certain lifestyle guidelines for people with hypertrophic cardiomyopathy (HCM). Your doctor may ask you to lose weight if you are overweight, quit smoking, and limit your alcohol intake. […] These lifestyle changes can help improve symptoms and prevent the condition from worsening. […] NYU Langone doctors recommend that people with this condition limit or avoid alcohol. Alcoholic drinks can worsen obstruction in the heart, which reduce blood flow to the body. Alcohol consumption can also promote weight gain, which can worsen symptoms. […] Smoking tobacco can worsen some HCM symptoms. It causes a narrowing of the coronary arteries. The combination of HCM and coronary artery disease is dangerous. If you smoke, experts at NYU Langones Tobacco Cessation Programs can teach you techniques designed to help you quit.

• #19 Hypertrophic cardiomyopathy primary prevention – wikidoc

  https://www.wikidoc.org/index.php/Hypertrophic_cardiomyopathy_primary_prevention

  There is no primary prevention for hypertrophic cardiomyopathy. This is a genetic familial disorder. But there are important approaches to decrease and prevent development of sudden death and heart attack in known cases of HCM (tertiary Prevention). Any activity, drug or circumstance that increases left ventricular outflow obstruction, reduced left ventricular filling, or increases left ventricular afterload should be avoided. […] The following activities increase left ventricular outflow tract obstruction and should be avoided: Nausea and vomiting, Dehydration, Hypovolemia (i.e., use diuretics with caution), Medications that reduce preload and left ventricular filling such as nitrates, Alcohol ingestion may change outflow obstruction due to vaso and veno dilation. In one randomized trial, patients who ingested alcohol in amounts that mimic that ingested during social circumstances sustained rise in their gradient from 38 to 62 mm Hg, a drop in their systolic blood pressure from 132 to 122 mm Hg and an increase in systolic anterior motion (SAM) of the mitral valve. Heavy meals may change the outflow obstruction for a wide variety of reasons including splanchnic pulling of blood.

• #20 Hypertrophic cardiomyopathy: Symptoms, treatment, and more

  https://www.medicalnewstoday.com/articles/hypertrophic-cardiomyopathy-what-to-know

  Because HCM is genetic, prevention is not possible if a genetic mutation is already present. However, with proactive screening and management, such as medications and lifestyle strategies, people can often prevent or minimize the signs and symptoms of HCM. […] A healthcare professional may prescribe medications to help manage symptoms, arrhythmias, and heart failure and reduce the risk of complications. […] HCM is not preventable in people who have a related genetic mutation. However, proactive screening and management, such as medications and lifestyle strategies, can help people reduce the signs and symptoms of HCM.

• #21 New perspectives in the pharmacological treatment of hypertrophic cardiomyopathy | Revista Portuguesa de Cardiologia (English edition)

  https://www.revportcardiol.org/en-new-perspectives-in-pharmacological-treatment-articulo-S2174204920300878

  In light of these results, diltiazem has been proposed as a disease-modifying treatment in HCM carriers who have not yet developed LVH. […] Ranolazine was thus thought to have the potential to modify the disease’s natural history or to provide symptomatic relief. […] Pharmacological inhibition of the RAAS may therefore help prevent or reverse the HCM phenotype. […] Nevertheless, RAAS inhibition may still be useful for preventing disease development in patients with preclinical HCM (genotype-positive, phenotype-negative patients). […] Gene therapy has the potential to help prevent disease development in HCM. […] These approaches are targeted at key events early in the development of HCM. […] This is particularly promising for carriers of disease-associated mutations without phenotype expression (genotype-positive, phenotype-negative individuals), in whom preventing the development of LVH or other disease-associated alterations means the disease may never take hold.

• #21 New perspectives in the pharmacological treatment of hypertrophic cardiomyopathy | Revista Portuguesa de Cardiologia (English edition)

  https://www.revportcardiol.org/en-new-perspectives-in-pharmacological-treatment-articulo-S2174204920300878

  Hypertrophic cardiomyopathy is an inherited cardiac disease and a major cause of heart failure and sudden death. […] Although it was first described more than 50 years ago, sarcomeric hypertrophic cardiomyopathy still lacks a disease-specific treatment: the drugs routinely used alleviate symptoms but do not prevent or revert the phenotype. […] Therapy currently focuses on alleviating symptoms and preventing disease complications. […] Although HCM was first described more than 50 years ago, evidence-based therapies are scarce and there have been few clinical trials, with small numbers of patients, evaluating the efficacy of pharmacological treatments for this disease. […] Carriers of HCM-associated mutations which are not yet expressed phenotypically (genotype-positive, phenotype-negative individuals) are a population of particular interest in whom development of the disease phenotype may be prevented.

• #22

  https://www.healio.com/news/cardiology/20230105/advances-in-hf-hypertrophic-cardiomyopathy-management-among-top-news-of-2022

  Mavacamten, a cardiac myosin inhibitor approved in April to treat obstructive hypertrophic cardiomyopathy (HCM), offers hope for many people with this debilitating disease who want improved quality of life. […] From a personal perspective, the biggest story has been the emergence of cardiac myosin inhibitors in obstructive hypertrophic cardiomyopathy. The demonstration of sustained long-term efficacy of mavacamten in EXPLORER-HCM and demonstration of significant reduction in need/eligibility of septal reduction therapy in the VALOR-HCM trial have essentially changed the management paradigm for these fairly complex patients. The very convincing scientific data resulted in the approval of mavacamten by the FDA in April, opening the door for many such scientific breakthroughs in the future.

• #23 Commentary: Endocarditis in hypertrophic cardiomyopathy: A reason to strengthen the guidelines? – JTCVS Techniques

  https://www.jtcvstechniques.org/article/S2666-2507(20)30637-4/fulltext

  Because patients with hypertrophic cardiomyopathy are at increased risk of infective endocarditis, it may be appropriate to reconsider the balance between the benefits and risks of antibiotic prophylaxis. […] Until 2007, antibiotic prophylaxis to prevent infective endocarditis was recommended before invasive procedures for all patients suffering from hypertrophic cardiomyopathy, and especially for those with obstruction of the left ventricular outflow. However, in 2007, the American Heart Association and later the European Society of Cardiology revised their recommendations and eliminated antibiotic prophylaxis for patients with hypertrophic cardiomyopathy. […] This important case reminds us that infective endocarditis still must be considered in patients suffering from hypertrophic cardiomyopathy following simple dental procedures. […] For this reason, it may be appropriate to reconsider the balance between the benefits and risks of antibiotic prophylaxis in such patients.

• #24 Hypertrophic cardiomyopathy in the adolescent

  https://www.racgp.org.au/afp/2017/august/hypertrophic-cardiomyopathy-in-the-adolescent

  Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease, which generally manifests during adolescence. […] First-degree relatives of an adolescent with HCM should be screened for the condition. […] Adolescents with HCM should be regularly reviewed in a paediatric cardiology department; however, general practitioners should understand the diagnostic and treatment principles for this condition. […] Current guidelines identify several major risk factors for SCD, which, if present, are indications for insertion of an implantable cardioverter defibrillator (ICD) for primary prophylaxis. […] In adolescents with HCM who manifest at least one major risk factor for SCD, an ICD should be strongly considered. […] Comprehensive management of an adolescent with HCM involves a systematic approach to family screening for the condition. Screening for HCM with a regular physical examination, ECG and echocardiogram is recommended for all first-degree relatives. […] Identification of a pathogenic HCM mutation can simplify this screening process. […] Current antimicrobial guidelines do not recommend routine antibiotic prophylaxis prior to dental or surgical procedures in adolescents with HCM, even in the presence of LVOT obstruction.

• #25 Feline Hypertrophic Cardiomyopathy (HCM) in Cats | PetMD

  https://www.petmd.com/cat/conditions/cardiovascular/feline-hypertrophic-cardiomyopathy-hcm-cats

  Since HCM can be inherited or may be the result of other medical conditions, the disease is difficult to prevent. […] Reputable breeders should test susceptible cat breeds for mutations in the A31P gene so that kittens produced from breeding stock do not inherit two mutated copies of the gene. […] General care and proper nutrition for all cats can go a long way to supporting heart health and prolonging the asymptomatic stage of HCM. […] It is crucial for higher-risk cats (senior cats, cats with predisposed conditions, cats with the A31P gene) to be screened annually for any signs of heart disease. […] If you are concerned about HCM in your cat, it’s best to speak with your veterinarian about his overall risk, which diagnostic tests are most appropriate, and how often those tests are needed. […] Your veterinarian can also assist with developing a wellness and nutrition plan at home to ensure your cat has the best and longest possible life.

• #26

  https://www.alliedacademies.org/articles/hypertrophic-cardiomyopathy-and-sudden-cardiac-death-risks-and-prevention-strategies-24622.html

  Preventing SCD in patients with HCM involves a combination of medical management and lifestyle modifications. Medical management may include the use of medications such as beta-blockers or calcium channel blockers, which can help control heart rate and rhythm and reduce the risk of arrhythmias. In some cases, doctors may recommend implantation of a cardiac defibrillator, which can detect and treat potentially life-threatening arrhythmias […] Lifestyle modifications may include avoiding high-intensity exercise and participating in regular, low- to moderate-intensity physical activity. Patients with HCM should also avoid certain medications that can increase the risk of arrhythmias, such as stimulants and certain decongestants […] Regular check-up with a cardiologist is essential for patients with HCM, particularly those who are at higher risk of SCD. Patients should undergo regular cardiac testing, including ECG and echocardiogram, to monitor for changes in their condition and adjust their treatment plan as necessary

• #26

  https://www.alliedacademies.org/articles/hypertrophic-cardiomyopathy-and-sudden-cardiac-death-risks-and-prevention-strategies-24622.html

  Effective risk assessment and prevention strategies, including medical management and lifestyle modifications, can help reduce the risk of SCD and improve outcomes for patients with HCM. Regular follow-up with a cardiologist is essential to ensure appropriate management of this condition and to prevent potentially life-threatening complications.

• #27 Managing Hypertrophic Cardiomyopathy

  https://www.uspharmacist.com/article/managing-hypertrophic-cardiomyopathy

  Risk stratification of SCD in patients with HCM is useful in determining the need for ICD placement for primary prevention and should be performed every 1 to 2 years. Risk factors for SCD include 1) a personal history of ventricular fibrillation, sustained VT, or SCD events, including appropriate ICD therapy for ventricular tachyarrhythmias; 2) a family history of SCD events, including appropriate ICD therapy for ventricular tachyarrhythmias; 3) unexplained syncope; 4) documented nonsustained VT (3 beats at 120 bpm Holter); and 5) LV hypertrophy (maximal LV wall thickness 30 mm). The presence of any of these risk factors is an indication for ICD evaluation and placement. […] Patients and their families should receive education on screening recommendations for first-degree relatives and the avoidance of strenuous physical activity.

• #27 Managing Hypertrophic Cardiomyopathy

  https://www.uspharmacist.com/article/managing-hypertrophic-cardiomyopathy

  Patients should be educated about genetic screening procedures and lifestyle-modification recommendations to prevent symptomatic disease occurrence. Comorbid conditions and risk factors should be aggressively managed to reduce the risk of symptomatic HCM. […] Appropriate treatment monitoring and medication education should be part of a global treatment approach. Patients should also be counseled to avoid medications that can exacerbate the degree of obstruction and thereby worsen symptoms.

• #28 Cardiomyopathy Treatment

  https://www.dukehealth.org/treatments/heart/cardiomyopathy

  Identifying the disease early and working with cardiologists who specialize in managing it can help prevent cardiomyopathy from progressing and causing serious complications. […] Duke has been named as a Center of Excellence by the Hypertrophic Cardiomyopathy Association, recognizing our high-quality, guideline-based care for people with hypertrophic cardiomyopathy and dedication to research. […] Comprehensive genetic testing and counseling can help determine whether your cardiomyopathy is genetic, pinpoint the best treatment approaches for you, and identify family members who may be at risk.

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