Hypertrophic cardiomyopathy: diagnosis, risk stratification and treatment.
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ABSTRACT:
SUBMITTER: Jacoby DL
PROVIDER: S-EPMC3563885 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Publications
Hypertrophic cardiomyopathy: diagnosis, risk stratification and treatment.
Jacoby Daniel L DL DePasquale Eugene C EC McKenna William J WJ
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 20121029 2
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Project description:In hypertrophic cardiomyopathy, multimodality imaging is crucial to confirm diagnosis, assess for presence and mechanism of left ventricular outflow tract obstruction, and risk stratification for sudden cardiac death. This review will focus on the application of imaging to assess established and emerging factors to be considered in sudden cardiac death risk stratification.
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Project description:The clinical spectrum of hypertrophic cardiomyopathy (HCM) is complex and includes a variety of phenotypes, which leads to different types of manifestations. Although most of the patients are asymptomatic, a significant proportion of them will develop symptoms or risk of arrhythmias and sudden cardiac death (SCD). Therefore, the objectives of HCM diagnosis and management are to relieve the patients' symptoms (chest pain, heart failure, syncope, palpitations, etc.), prevent disease progression and major cardiovascular complications and SCD. The heterogeneity of HCM patterns, their symptoms and assessment is a challenge for the cardiologist.
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Project description:The role of genetic testing over the clinical and functional variables, including data from the cardiopulmonary exercise test (CPET), in the hypertrophic cardiomyopathy (HCM) risk stratification remains unclear. A retrospective genotype-phenotype correlation was performed to analyze possible differences between patients with and without likely pathogenic/pathogenic (LP/P) variants. A total of 371 HCM patients were screened at least for the main sarcomeric genes MYBPC3 (myosin binding protein C), MYH7 (β-myosin heavy chain), TNNI3 (cardiac troponin I) and TNNT2 (cardiac troponin T): 203 patients had at least an LP/P variant, 23 patients had a unique variant of uncertain significance (VUS) and 145 did not show any LP/P variant or VUS. During a median 5.4 years follow-up, 51 and 14 patients developed heart failure (HF) and sudden cardiac death (SCD) or SCD-equivalents events, respectively. The LP/P variant was associated with a more aggressive HCM phenotype. However, left atrial diameter (LAd), circulatory power (peak oxygen uptake*peak systolic blood pressure, CP%) and ventilatory efficiency (C-index = 0.839) were the only independent predictors of HF whereas only LAd and CP% were predictors of the SCD end-point (C-index = 0.738). The present study reaffirms the pivotal role of the clinical variables and, particularly of those CPET-derived, in the HCM risk stratification.
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Project description:BackgroundHeart failure with preserved ejection fraction (HFpEF) is the dominant form of heart failure (HF). We here aimed to investigate the characteristics and prognosis of HFpEF in patients with hypertrophic cardiomyopathy (HCM).MethodsThis was a prospective cohort study and patients with HCM with available NT-proBNP results were enrolled. Patients were categorized into HFpEF [defined as LVEF ≥50%, with symptoms or signs of HF, and N-terminal pro-brain natriuretic peptide ≥800 pg/mL according to American Heart Association (AHA) criteria] and without heart failure (non-HF). The outcomes of interest were all-cause death, cardiovascular death, and sudden cardiac death (SCD).ResultsOf 1178 included patients with HCM, 513 (43.5%) were identified as having HFpEF according to AHA criteria. Compared with non-HF patients, patients with HFpEF had significantly larger maximal wall thickness (P < 0.001), higher maximal left ventricular outflow tract gradient (P < 0.001), higher proportion of atrial fibrillation (P < 0.001), higher incidence of all-cause death (log-rank test, P = 0.002), and cardiovascular death (log-rank test, P = 0.005). Multivariable Cox analysis showed that patients with HFpEF had a nearly two-fold higher risk of all-cause death (adjusted HR = 1.80, 95% CI 1.11-2.90; P = 0.017) and cardiovascular death (adjusted HR =1.82, 95% CI 1.05-3.18; P = 0.033) than non-HF patients.ConclusionsPatients with HCM have a high prevalence of HFpEF and those with HFpEF present greater disease severity and higher mortality than non-HF patients, and thus may require an appropriate and more aggressive treatment for HF management. Identification of patients with HFpEF using AHA criteria can provide guidance on patient risk stratification for patients with HCM.
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Project description:Hypertrophic cardiomyopathy (HCM) is widely recognized as one of the most common inheritable cardiac disorders. Since its initial description over 60 years ago, advances in multimodality imaging and translational genetics have revolutionized our understanding of the disorder. The diagnosis and management of patients with HCM are optimized with a multidisciplinary approach. This, along with increased safety and efficacy of medical, percutaneous, and surgical therapies for HCM, has afforded more personalized care and improved outcomes for this patient population. In this review, we will discuss our modern understanding of the molecular pathophysiology that underlies HCM. We will describe the range of clinical presentations and discuss the role of genetic testing in diagnosis. Finally, we will summarize management strategies for the hemodynamic subtypes of HCM with specific emphasis on the rationale and evidence for the use of implantable cardioverter defibrillators, septal reduction therapy, and cardiac myosin inhibitors.
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Project description:Sarcomeric hypertrophic cardiomyopathy (HCM) is a prevalent genetic disorder characterised by left ventricular hypertrophy, myocardial disarray, and an increased risk of heart failure and sudden cardiac death. Despite advances in understanding its pathophysiology, treatment options for HCM remain limited. This narrative review aims to provide a comprehensive overview of current clinical practice and explore emerging therapeutic strategies for sarcomeric HCM, with a focus on cardiac myosin inhibitors. We first discuss the conventional management of HCM, including lifestyle modifications, pharmacological therapies, and invasive interventions, emphasizing their limitations and challenges. Next, we highlight recent advances in molecular genetics and their potential applications in refining HCM diagnosis, risk stratification, and treatment. We delve into emerging therapies, such as gene editing, RNA-based therapies, targeted small molecules, and cardiac myosin modulators like mavacamten and aficamten, which hold promise in modulating the underlying molecular mechanisms of HCM. Mavacamten and aficamten, selective modulators of cardiac myosin, have demonstrated encouraging results in clinical trials by reducing left ventricular outflow tract obstruction and improving symptoms in patients with obstructive HCM. We discuss their mechanisms of action, clinical trial outcomes, and potential implications for the future of HCM management. Furthermore, we examine the role of precision medicine in HCM management, exploring how individualised treatment strategies, including exercise prescription as part of the management plan, may optimise patient outcomes. Finally, we underscore the importance of multidisciplinary care and patient-centred approaches to address the complex needs of HCM patients. This review also aims to encourage further research and collaboration in the field of HCM, promoting the development of novel and more effective therapeutic strategies, such as cardiac myosin modulators, to hopefully improve the quality of life and outcome of patients with sarcomeric HCM.
| S-EPMC10489039 | biostudies-literature
Project description:Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare prevalence in pediatric age, HCM carries a relevant risk of mortality and morbidity in both infants and children. 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. Moreover, in recent years, different targeted approaches for non-sarcomeric etiologies of HCM have emerged. Therefore, the etiological diagnosis is a fundamental step in designing specific management and therapy in these subjects. 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.
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Project description:BackgroundPapillary muscle free strain has not been evaluated previously in hypertrophic cardiomyopathy (HCMP) patients. Our aim was to evaluate free papillary muscle free strain in HCMP patients and to find whether it has a value for prediction of sudden cardiac death (SCD) risk score.MethodsTransthoracic echocardiography with tissue Doppler imaging, 2-D speckle tracking imaging (STI) of 55 HCMP patients and 45 controls were performed. HCMP patients were further divided into two groups according to their SCD risk score. Patients with risk score of less than 6 points constituted low/intermediate risk group, whereas patients with risk score of greater or equal to 6 points constituted high risk group.ResultsInterventricular septum, posterior wall, and left ventricular mass index were significantly higher, whereas mitral E/A ratio was significantly lower in HCMP patients compared to controls. Longitudinal apical 4C, 2C, 3C, global longitudinal LV strain, anterolateral papillary muscle (ALPM), posteromedial papillary muscle (PMPM) free strain were significantly reduced in HCMP group compared to control group. Global longitudinal strain and ALPM free strain were significantly lower in patients with high SCD risk score (-14.6 (-17.4 - -13.1) vs -11.6 (-13.2 - -10.1), p = 0.001 and -17.1 (-20.3 - -14.0) vs -9.2 (-12.6 - -7.5), p<0.001, respectively. Global longitudinal strain and ALPM free strain were statistically significantly correlated with SCD risk score (r = 0.480, p<0.001 and r = 0.462, p<0.001, respectively). Global longitudinal strain value of -12.60% had a sensitivity of 73.3% and specificity of 82.5% for predicting high SCD risk score (AUC: 0.787, 95% CI: 00.643-0.930, p = 0.001). ALPM free strain value of -12.95% had 66.7% sensitivity and 77.5% specificity for predicting high SCD risk score (AUC: 0.766, 95% CI: 0.626-0.905, p = 0.003).ConclusionPapillary muscle free strain was reduced in HCMP patients. It might be used in risk stratification of these patients.
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