Variations in clinical decision-making on the management of hypertrophic cardiomyopathy: a survey study targeting cardiologists in Korea

Septal myectomy for obstructive hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a hereditary cardiovascular condition marked by heart muscle thickening, fibrosis, and myocardial disorders. It is often inherited in an autosomal dominant pattern. Symptoms include dyspnea, fatigue, palpitations, dizziness, syncope, and an increased risk of sudden cardiac death (SCD). Genetic studies have identified many asymptomatic carriers, indicating a higher prevalence of HCM. Advances in genetic testing (GT) and novel therapies, such as cardiac myosin inhibitors, have significantly impacted the diagnosis and management of HCM. This integrative review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and aimed to synthesize information regarding the impact of GT on the diagnosis and management of HCM patients. An electronic search was conducted on May 17, 2024, across PubMed, Embase, Scopus, Web of Science, and Cochrane databases, covering January 2020 to May 2024. Inclusion criteria were studies involving adult HCM patients who underwent GT and follow-up. Exclusion criteria included non-human studies, pediatric cases, non-HCM-related GT, non-peer-reviewed articles, systematic reviews, conference abstracts, and editorials. From 1,155 articles identified, 42 met the inclusion criteria after applying filters and removing duplicates. GT identified pathogenic variants in a significant proportion of HCM patients, enhancing diagnostic accuracy and management. Key mutations were found in myosin binding protein C3 and myosin heavy chain 7 genes. GT facilitated personalized management strategies, including risk stratification for SCD and family screening. Patients with identified mutations often required closer monitoring and tailored treatments. GT has revolutionized the diagnosis and management of HCM. The integration of genetic data has improved risk stratification, facilitated early intervention, and enhanced patient outcomes. Despite these advances, challenges remain in identifying genetic variants in some patients, emphasizing the need for continuous improvement in genetic panels and diagnostic methods. This review highlights the significant role of GT in optimizing HCM care through precise risk assessment and tailored treatment strategies.

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy, affecting approximately 1:500 people. As the yield of genetic testing is only about 35–60%, the diagnosis of HCM is still clinical and based on the demonstration of unexplained and usually asymmetric left ventricular (LV) hypertrophy by imaging modalities. In the past, echocardiography was the sole imaging modality used for the diagnosis and management of HCM. However, in recent years other imaging modalities such as cardiac magnetic resonance have played a major role in the diagnosis, management and risk stratification of HCM, particularly when the location of left ventricular hypertrophy is atypical (apex, lateral wall) and when the echocardiographic imaging is sub-optimal. However, the most unique contribution of cardiac magnetic resonance is the quantification of myocardial fibrosis. Exercise stress echocardiography is the preferred provocative test for the assessment of LV outflow tract obstruction, which is detected only on provocation in one-third of the patients.

The evolving alcohol septal ablation versus surgical myectomy controversy represents a crossroad in the management of obstructive hypertrophic cardiomyopathy (HCM). Indeed, in this now polarized debate within the cardiovascular community, between the traditional and established (ie, surgery) and the new and percutaneous (ie, ablation), much is at stake for the HCM patient population. Furthermore, this issue has become increasingly important given the visibility recently afforded the pathophysiological significance and frequency of left ventricular (LV) outflow gradients in this disease.1,2 Response by Fifer p 206 In the course of this discussion, I will vigorously defend surgery as the primary treatment of choice when outflow obstruction (gradient ≥50 mm Hg at rest or with physiological exercise) produces heart failure symptoms refractory to maximal medical management (New York Heart Association functional classes III and IV).3,4 To this purpose, I will rely on the 50-year experience and substantial body of evidence available in HCM, as well as my own personal extensive association with and work in this disease spanning >30 years and several hundred publications—neither as a surgeon or interventional cardiologist nor with any particular allegiance to either discipline. The message expressed herein is prosurgery, but it is by no means antiablation, for this treatment modality has proved useful (although with a selective role) in the management of HCM. ### Historical Context When surgical septal myectomy (Table 1) was initially introduced in the early 1960s at several North American and European centers, it was regarded as revolutionary and has subsequently stood the test of time. The classic myectomy (Morrow operation)5 relieves obstruction by resection of a relatively small amount of muscle (2 to 5g) from the proximal ventricular septum, thereby widening the outflow tract and abolishing flow drag (or Venturi) forces that promote systolic contact between mitral valve and hypertrophied septum, resulting in immediate …

As the underlying genetic basis of hypertrophic cardiomyopathy is being characterized, there has been increasing recognition of the wide spectrum and variable evolution of this disease within the pediatric age range. This review outlines recent evidence relevant to the diagnosis, management, and prognosis of hypertrophic cardiomyopathy specific to children and adolescents. Studies of putative causal genes are leading to the discovery of factors affecting the variability of phenotypic expression and possible avenues for new therapies. Nonetheless, the use of genetic testing currently remains for research purposes only. Echocardiography is the primary means for evaluation, with an increasing focus on diastolic performance. Useful prognostic information can be obtained from the safe performance of cardiopulmonary stress testing. Sudden death can occur in children, although the risk factors are likely different than in adults. The role and mechanisms for possible ischemia remain controversial, and likely differ between individuals. Activity restrictions are recommended, with medical therapy reserved for those who are symptomatic. For those with important left ventricular outflow obstruction, surgical myectomy may be indicated, with little current role for alcohol septal ablation. Advances in implantable defibrillators now make this therapy feasible in younger children. There are important differences from adults in the approach to the diagnosis and management of hypertrophic cardiomyopathy in children and adolescents. Care regarding prognostication and therapy must be taken given the potential life-long implications.

Pregnancy in hypertrophic cardiomyopathy: New data, old questions

Hypertrophic Cardiomyopathy: A Species-Spanning Pathology

AimsIn light of recent advances in imaging techniques, molecular understanding and therapeutic options in hypertrophic cardiomyopathy (HCM), we performed a systematic review of current guidelines for the diagnosis and management of HCM in order to identify consensus and discrepant areas in the clinical practice guidelines.Methods and resultsWe systematically reviewed the English language guidelines and recommendations for the management of HCM in adults. MEDLINE and EMBASE databases were searched for guidelines published in the last 10 years. Following a systematic search, three guidelines on the diagnosis and management of HCM were identified, all of which were robustly developed (AGREE rigour of development score ≥50%). These guidelines were authored by the major European (European Society of Cardiology; 2023), American (American Heart Association /American College of Cardiology/American Medical Society for Sports Medicine /Heart Rhythm Society/Pediatric and Congenital Electrophysiology Society/Society for Cardiovascular Magnetic Resonance; 2024), and Japanese [Japanese Circulation Society (JCS)/Japanese Heart Failure Society (JHFS); 2018] cardiovascular societies. There was broad consensus on echocardiographic recommendations, the medical and invasive management of HCM, the application of genetic testing and family screening, and exercise and reproductive recommendations in HCM. There were areas of variability in the definition and diagnostic criteria for HCM, cardiovascular magnetic resonance imaging recommendations, and assessment of sudden cardiac death (SCD) risk and prevention strategies. Due to the JCS/JHFS guidelines being older, there are no recommendations on the use of cardiac myosin ATPase inhibitors.ConclusionContemporary guidelines for HCM achieve consensus across a broad range of criteria and recommendations concerning diagnosis and management. However, variations in the approach towards risk assessment for SCD exist between the guidelines. There are also more subtle differences concerning diagnostic criteria and the utility of late gadolinium enhancement for risk stratification, which will likely evolve as the evidence-base broadens.

High-Resolution ECG for Predicting Ventricular Arrhythmia in Hypertrophic Cardiomyopathy: Another Tool in the Toolbox.

Challenges in the diagnosis and management of hypertrophic cardiomyopathy and the promise of artificial intelligence.

Sudden cardiac death (SCD) is the most devastating complication of hypertrophic cardiomyopathy (HCM). The greatest challenge in the management of HCM is identifying those at increased risk, since an implantable cardioverter-defibrillator (ICD) is apotentially life-saving therapy. We sought to summarize the available data on SCD in HCM and provide aclinical perspective on the current differing and somewhat conflicting data on risk stratification, with balanced guidance regarding rational clinical decision-making. Additionally, we sought to determine the status of the current implementation of guidelines compiled by HCM experts worldwide. The HCM Risk-SCD model helps improve the risk stratification of HCM patients for primary prevention of SCD by calculating an individual risk estimate that contributes to the clinical decision-making process. Improved risk stratification is important for decision-making before ICD implantation for the primary prevention of SCD.

Developed in Collaboration With the American Association for Thoracic Surgery, Heart Failure Society of America, and Society of Thoracic Surgeons

This editorial refers to ‘A contemporary European experience with surgical septal myectomy in hypertrophic cardiomyopathy’, by A. Iacovoni et al. , doi:10.1093/eurheartj/ehs064 Improvements in the understanding of the haemodynamic abnormalities and pathophysiology of obstructive hypertrophic cardiomyopathy (HCM), as well as advances in surgical techniques have resulted in septal myectomy being the preferred treatment option for severe symptoms refractory to medical therapy.1 The recent American College of Cardiology (ACC)/American Heart Association (AHA) guidelines emphasized the importance of focused expertise in the diagnosis, and medical and surgical management of HCM.1 Consequently, there are a growing number of centres dedicated to HCM in the USA. The study of Iacovoni et al. 2 has important implications for the management of obstructive HCM in Europe. After the introduction of alcohol septal ablation (ASA) ∼15–20 years ago, septal myectomy has essentially disappeared in Europe. In fact, a recent review article on the management of obstructive HCM by a European institution did not even acknowledge septal myectomy as a treatment option in the management of patients with heart failure symptoms related to outflow obstruction.3 This has resulted in the vast majority of patients with symptomatic HCM in Europe being treated with ASA, and in the process denied the option of septal myectomy. Surgical techniques for relief of left ventricular outflow …

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited disease characterized by left ventricular hypertrophy, progressive diastolic dysfunction, left ventricular outflow obstruction, ventricular arrhythmias, and sudden death. Due to widespread screening and early diagnosis, there is a growing number of women of reproductive age with HCM who become pregnant. Despite this trend, there is limited clinical evidence addressing the challenges of diagnosis, risk stratification, and management of HCM. Observational studies have suggested that HCM is generally well tolerated during pregnancy, with many women experiencing normal pregnancy and delivery outcomes. However, complications may arise in some cases, necessitating consideration of advanced therapeutic interventions before pregnancy. This review will examine the epidemiology, clinical presentation, diagnosis, and management of HCM during pregnancy.

A 20-year-old asymptomatic man was diagnosed with hypertrophic cardiomyopathy (HCM) after routine physical examination during which a systolic heart murmur was detected.Echocardiography showed massive left ventricular (LV) hypertrophy with ventricular septal thickness of 36 mm extending into the anterolateral wall (30 mm); outflow obstruction was absent.Ambulatory (Holter) ECG showed 3 isolated premature ventricular contractions, and blood pressure response to exercise was normal.Echocardiographic examinations in parents and siblings were negative for HCM.Although 2 centers advised against an implantable cardioverter-defibrillator (ICD) based on the presence of only 1 risk factor for sudden death (ie, extreme hypertrophy), a prophylactic device was recommended by a third cardiac consultant.After an uneventful 16-month period during which the ICD neither detected nor treated arrhythmias, an unprovoked episode of ventricular fibrillation triggered a defibrillation shock that immediately restored sinus rhythm (Figure 1).