Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease that affects the left ventricle. HCM can appear at any age, with the majority of the patients remaining clinically stable. When patients com...Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease that affects the left ventricle. HCM can appear at any age, with the majority of the patients remaining clinically stable. When patients complain of symptoms, these include: dyspnea, dizziness, syncope and angina. HCM can lead to sudden cardiac death (SCD), mainly due to ventricular tachyarrhythmia or ventricular tachycardia. High-risk patients benefit from implantable cardioverter-defibrillators. Left ventricular outflow tract obstruction is not a rare feature in HCM, especially in symptomatic patients, and procedures that abolish that obstruction provide positive and consistent results that can improve longterm survival. HCM is the most common cause of sudden death in young competitive athletes and preparticipation screening programs have to be implemented to avoid these tragic fatalities. The structure of these programs is a matter of large debate. Worldwide registries are necessary to identify the full extent of HCMrelated SCD.展开更多
Introduction: Hypertrophic cardiomyopathy (HCM) belongs to the very heterogeneous group of cardiomyopathies. This study aimed to study myocardial perfusion abnormalities on scintigraphy and assess the risk of sudden d...Introduction: Hypertrophic cardiomyopathy (HCM) belongs to the very heterogeneous group of cardiomyopathies. This study aimed to study myocardial perfusion abnormalities on scintigraphy and assess the risk of sudden death from ventricular arrhythmia in hereditary sarcomeric HCM. Patients and Methods: This is a retrospective and prospective descriptive study over 18 months (January 01, 2021, to July 31, 2022) on the records of patients over 18 with the diagnosis of hypertrophic sarcomeric cardiomyopathy with or without ventricular rhythm disorders and who have undergone myocardial scintigraphy. Results: Three patients were included. The average age of our patients was 66 years old. Dyspnea is the primary symptomatology found in our patients. One patient presented with syncope and unsustained ventricular tachycardia. His risk score for sudden death from ESC at five years is estimated at 6.45%, and the patient received an ICD in primary prevention. The average sudden death risk score of our patients was 3.78%. The mean LV wall thickness was 20 mm. The mean maximum left intraventricular gradient was 39 mmHg. Myocardial fibrosis was present in all our patients. Myocardial scintigraphy was normal in all cases. Conclusion: Hypertrophic cardiomyopathy is a very heterogeneous group of cardiomyopathies. The rhythmic risk is multifactorial and constitutes a significant prognostic factor.展开更多
Hypertrophic cardiomyopathy(HCM),the most variable cardiac disease in terms of phenotypic presentation and clinical outcome,represents the most common inherited cardiomyopathic process with an autosomal dominant trait...Hypertrophic cardiomyopathy(HCM),the most variable cardiac disease in terms of phenotypic presentation and clinical outcome,represents the most common inherited cardiomyopathic process with an autosomal dominant trait of inheritance.To date,more than 1400 mutations of myofilament proteins associated with the disease have been identified,most of them "private" ones.This striking allelic and locus heterogeneity of the disease certainly complicates the establishment of phenotype-genotype correlations.Additionally,topics pertaining to patients' everyday lives,such as sudden cardiac death(SCD)risk stratification and prevention,along with disease prognosis,are grossly related to the genetic variation of HCM.This review incorporates contemporary research findings and addresses major aspects of HCM,including preclinical diagnosis,genetic analysis,left ventricular outflow tract obstruction and SCD.More specifically,the spectrum of genetic analysis,the selection of the best method for obstruction alleviation and the need for a unique and accuratefactor for SCD risk stratification are only some of the controversial HCM issues discussed.Additionally,future perspectives concerning HCM and myocardial ischemia,as well as atrial fibrillation,are discussed.Rather than enumerating clinical studies and guidelines,challenging problems concerning the disease are critically appraised by this review,highlighting current speculations and recommending future directions.展开更多
Hypertrophic cardiomyopathy(HCM) is the most common cause of sudden cardiac death(SCD) in the young, particularly among athletes. Identifying high risk individuals is very important for SCD prevention. The purpose of ...Hypertrophic cardiomyopathy(HCM) is the most common cause of sudden cardiac death(SCD) in the young, particularly among athletes. Identifying high risk individuals is very important for SCD prevention. The purpose of this review is to stress that noninvasive diagnostic testing is important for risk assessment. Extreme left ventricular hypertrophy and documented ventricular tachycardia and fibrillation increase the risk of SCD. Fragmented QRS and T wave inversion in multiple leads are more common in high risk patients. Cardiac magnetic resonance imaging provides complete visualization of the left ventricular chamber, allowing precise localization of the distribution of hypertrophy and measurement of wall thickness and cardiac mass. Moreover, with late gadolinium enhancement, patchy myocardial fibrosis within the area of hypertrophy can be detected, which is also helpful in risk stratification. Genetic testing is encouraged in all cases, especially in those with a family history of HCM and SCD.展开更多
BACKGROUND There is a high risk for sudden cardiac death(SCD) in certain patient groups that would not meet criteria for implantable cardioverter defibrillator(ICD) therapy.In conditions such as hypertrophic cardiomyo...BACKGROUND There is a high risk for sudden cardiac death(SCD) in certain patient groups that would not meet criteria for implantable cardioverter defibrillator(ICD) therapy.In conditions such as hypertrophic cardiomyopathy(HCM) there are clear risk scores that help define patients who are high risk for SCD and would benefit from ICD therapy. There are however many areas of uncertainty such as certain patients post myocardial infarction(MI). These patients are high risk for SCD but there is no clear tool for risk stratifying such patients.AIM To assess risk factors for sudden cardiac death in major cardiac disorders and to help select patients who might benefit from Wearable cardiac defibrillators(WCD).METHODS A literature search was performed looking for risk factors for SCD in patients post-MI, patients with left ventricular systolic dysfunction(LVSD), HCM, long QT syndrome(LQTS). There were 41 studies included and risk factors and the relative risks for SCD were compiled in table form.RESULTS We extracted data on relative risk for SCD of specific variables such as age,gender, ejection fraction. The greatest risk factors for SCD in post MI patients was the presence of diabetes [Hazard ratio(HR) 1.90-3.80], in patient with LVSD was ventricular tachycardia(Relative risk 3.50), in LQTS was a prolonged QTc(HR36.53) and in patients with HCM was LVH greater than 20 mm(HR 3.10). A proportion of patients currently not suitable for ICD might benefit from a WCDCONCLUSION There is a very high risk of SCD post MI, in patients with LVSD, HCM and LQTS even in those who do not meet criteria for ICD implantation. These patients may be candidates for a WCD. The development of more sensitive risk calculators to predict SCD is necessary in these patients to help guide treatment.展开更多
目的:研究肥厚型心肌病(hypertrophic cardiomyopathy,HCM)患者左心室舒张功能的心脏磁共振(cardiac magnetic resonance,CMR)心肌应变率参数与心源性猝死风险间的关系。方法:纳入160例HCM患者和50名健康志愿者的CMR扫描数据,收集应变率...目的:研究肥厚型心肌病(hypertrophic cardiomyopathy,HCM)患者左心室舒张功能的心脏磁共振(cardiac magnetic resonance,CMR)心肌应变率参数与心源性猝死风险间的关系。方法:纳入160例HCM患者和50名健康志愿者的CMR扫描数据,收集应变率(strain rate,SR)参数,包括左心室舒张期峰值径向应变率(radial strain rate,RSR)、圆周应变率(circumferential strain rate,CSR)和长轴应变率(longitudinal strain rate,LSR)。根据2014版欧洲心脏病学会(European Society of Cardiology,ESC)指南和2020版美国心脏病学会/美国心脏病协会(American College of Cardiology/American Heart Association,ACC/AHA)指南分别对患者进行心源性猝死(sudden cardiac death,SCD)风险分级,使用独立样本t检验比较同一指南定义下高风险与低风险2组间的舒张功能差异,用单因素方差分析比较2种指南定义下不同风险亚组间的舒张功能差异,对指南中的主要风险因素与舒张功能CMR应变率参数间的相关性进行线性回归分析。结果:HCM患者左心室舒张期SR绝对值较对照组显著降低(RSR,-1.27±0.60比-2.40±0.59;CSR,0.71±0.24比1.22±0.25;LSR,0.52±0.24比0.89±0.20,P均<0.05)。根据2014版ESC指南分层,SCD高风险患者(27例)的舒张期RSR绝对值较低风险患者显著降低(P<0.05),而两者间的CSR及LSR无差异;根据2020版ACC/AHA指南,SCD高风险患者(92例)舒张期的3个心肌SR指标绝对值均较低风险患者显著降低(P均<0.05)。对在2014 ESC中为低风险而在2020版ACC/AHA指南中为高风险的患者(65例),其舒张期SR绝对值与2种指南均为高风险的患者相仿,但显著低于2种指南中均为低风险的患者。在主要SCD危险因素中,舒张期心肌SR绝对值在左室壁最大厚度≥30 mm和延迟强化/左室心肌质量比值≥15%时绝对值显著降低,左室舒张功能受损严重,左室壁最大厚度、延迟强化/左室心肌质量比值与舒张期心肌SR均有显著相关性(相关系数r为RSR:0.48/0.35,CSR:-0.42/-0.31,LSR:-0.37/-0.16,P均<0.05)。结论:CMR左心室心肌SR在SCD高风险患者中显著降低,且与部分危险因素具有相关性,可作为辅助评估SCD风险的潜在生物学标志物。展开更多
文摘Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease that affects the left ventricle. HCM can appear at any age, with the majority of the patients remaining clinically stable. When patients complain of symptoms, these include: dyspnea, dizziness, syncope and angina. HCM can lead to sudden cardiac death (SCD), mainly due to ventricular tachyarrhythmia or ventricular tachycardia. High-risk patients benefit from implantable cardioverter-defibrillators. Left ventricular outflow tract obstruction is not a rare feature in HCM, especially in symptomatic patients, and procedures that abolish that obstruction provide positive and consistent results that can improve longterm survival. HCM is the most common cause of sudden death in young competitive athletes and preparticipation screening programs have to be implemented to avoid these tragic fatalities. The structure of these programs is a matter of large debate. Worldwide registries are necessary to identify the full extent of HCMrelated SCD.
文摘Introduction: Hypertrophic cardiomyopathy (HCM) belongs to the very heterogeneous group of cardiomyopathies. This study aimed to study myocardial perfusion abnormalities on scintigraphy and assess the risk of sudden death from ventricular arrhythmia in hereditary sarcomeric HCM. Patients and Methods: This is a retrospective and prospective descriptive study over 18 months (January 01, 2021, to July 31, 2022) on the records of patients over 18 with the diagnosis of hypertrophic sarcomeric cardiomyopathy with or without ventricular rhythm disorders and who have undergone myocardial scintigraphy. Results: Three patients were included. The average age of our patients was 66 years old. Dyspnea is the primary symptomatology found in our patients. One patient presented with syncope and unsustained ventricular tachycardia. His risk score for sudden death from ESC at five years is estimated at 6.45%, and the patient received an ICD in primary prevention. The average sudden death risk score of our patients was 3.78%. The mean LV wall thickness was 20 mm. The mean maximum left intraventricular gradient was 39 mmHg. Myocardial fibrosis was present in all our patients. Myocardial scintigraphy was normal in all cases. Conclusion: Hypertrophic cardiomyopathy is a very heterogeneous group of cardiomyopathies. The rhythmic risk is multifactorial and constitutes a significant prognostic factor.
文摘Hypertrophic cardiomyopathy(HCM),the most variable cardiac disease in terms of phenotypic presentation and clinical outcome,represents the most common inherited cardiomyopathic process with an autosomal dominant trait of inheritance.To date,more than 1400 mutations of myofilament proteins associated with the disease have been identified,most of them "private" ones.This striking allelic and locus heterogeneity of the disease certainly complicates the establishment of phenotype-genotype correlations.Additionally,topics pertaining to patients' everyday lives,such as sudden cardiac death(SCD)risk stratification and prevention,along with disease prognosis,are grossly related to the genetic variation of HCM.This review incorporates contemporary research findings and addresses major aspects of HCM,including preclinical diagnosis,genetic analysis,left ventricular outflow tract obstruction and SCD.More specifically,the spectrum of genetic analysis,the selection of the best method for obstruction alleviation and the need for a unique and accuratefactor for SCD risk stratification are only some of the controversial HCM issues discussed.Additionally,future perspectives concerning HCM and myocardial ischemia,as well as atrial fibrillation,are discussed.Rather than enumerating clinical studies and guidelines,challenging problems concerning the disease are critically appraised by this review,highlighting current speculations and recommending future directions.
文摘Hypertrophic cardiomyopathy(HCM) is the most common cause of sudden cardiac death(SCD) in the young, particularly among athletes. Identifying high risk individuals is very important for SCD prevention. The purpose of this review is to stress that noninvasive diagnostic testing is important for risk assessment. Extreme left ventricular hypertrophy and documented ventricular tachycardia and fibrillation increase the risk of SCD. Fragmented QRS and T wave inversion in multiple leads are more common in high risk patients. Cardiac magnetic resonance imaging provides complete visualization of the left ventricular chamber, allowing precise localization of the distribution of hypertrophy and measurement of wall thickness and cardiac mass. Moreover, with late gadolinium enhancement, patchy myocardial fibrosis within the area of hypertrophy can be detected, which is also helpful in risk stratification. Genetic testing is encouraged in all cases, especially in those with a family history of HCM and SCD.
文摘BACKGROUND There is a high risk for sudden cardiac death(SCD) in certain patient groups that would not meet criteria for implantable cardioverter defibrillator(ICD) therapy.In conditions such as hypertrophic cardiomyopathy(HCM) there are clear risk scores that help define patients who are high risk for SCD and would benefit from ICD therapy. There are however many areas of uncertainty such as certain patients post myocardial infarction(MI). These patients are high risk for SCD but there is no clear tool for risk stratifying such patients.AIM To assess risk factors for sudden cardiac death in major cardiac disorders and to help select patients who might benefit from Wearable cardiac defibrillators(WCD).METHODS A literature search was performed looking for risk factors for SCD in patients post-MI, patients with left ventricular systolic dysfunction(LVSD), HCM, long QT syndrome(LQTS). There were 41 studies included and risk factors and the relative risks for SCD were compiled in table form.RESULTS We extracted data on relative risk for SCD of specific variables such as age,gender, ejection fraction. The greatest risk factors for SCD in post MI patients was the presence of diabetes [Hazard ratio(HR) 1.90-3.80], in patient with LVSD was ventricular tachycardia(Relative risk 3.50), in LQTS was a prolonged QTc(HR36.53) and in patients with HCM was LVH greater than 20 mm(HR 3.10). A proportion of patients currently not suitable for ICD might benefit from a WCDCONCLUSION There is a very high risk of SCD post MI, in patients with LVSD, HCM and LQTS even in those who do not meet criteria for ICD implantation. These patients may be candidates for a WCD. The development of more sensitive risk calculators to predict SCD is necessary in these patients to help guide treatment.
文摘目的:研究肥厚型心肌病(hypertrophic cardiomyopathy,HCM)患者左心室舒张功能的心脏磁共振(cardiac magnetic resonance,CMR)心肌应变率参数与心源性猝死风险间的关系。方法:纳入160例HCM患者和50名健康志愿者的CMR扫描数据,收集应变率(strain rate,SR)参数,包括左心室舒张期峰值径向应变率(radial strain rate,RSR)、圆周应变率(circumferential strain rate,CSR)和长轴应变率(longitudinal strain rate,LSR)。根据2014版欧洲心脏病学会(European Society of Cardiology,ESC)指南和2020版美国心脏病学会/美国心脏病协会(American College of Cardiology/American Heart Association,ACC/AHA)指南分别对患者进行心源性猝死(sudden cardiac death,SCD)风险分级,使用独立样本t检验比较同一指南定义下高风险与低风险2组间的舒张功能差异,用单因素方差分析比较2种指南定义下不同风险亚组间的舒张功能差异,对指南中的主要风险因素与舒张功能CMR应变率参数间的相关性进行线性回归分析。结果:HCM患者左心室舒张期SR绝对值较对照组显著降低(RSR,-1.27±0.60比-2.40±0.59;CSR,0.71±0.24比1.22±0.25;LSR,0.52±0.24比0.89±0.20,P均<0.05)。根据2014版ESC指南分层,SCD高风险患者(27例)的舒张期RSR绝对值较低风险患者显著降低(P<0.05),而两者间的CSR及LSR无差异;根据2020版ACC/AHA指南,SCD高风险患者(92例)舒张期的3个心肌SR指标绝对值均较低风险患者显著降低(P均<0.05)。对在2014 ESC中为低风险而在2020版ACC/AHA指南中为高风险的患者(65例),其舒张期SR绝对值与2种指南均为高风险的患者相仿,但显著低于2种指南中均为低风险的患者。在主要SCD危险因素中,舒张期心肌SR绝对值在左室壁最大厚度≥30 mm和延迟强化/左室心肌质量比值≥15%时绝对值显著降低,左室舒张功能受损严重,左室壁最大厚度、延迟强化/左室心肌质量比值与舒张期心肌SR均有显著相关性(相关系数r为RSR:0.48/0.35,CSR:-0.42/-0.31,LSR:-0.37/-0.16,P均<0.05)。结论:CMR左心室心肌SR在SCD高风险患者中显著降低,且与部分危险因素具有相关性,可作为辅助评估SCD风险的潜在生物学标志物。
