肥厚性心肌病的最新指南课件

The Second Affiliated Hospital of Nanjing Medical University The Second Clinical Medical School of Nanjing Medical University 南京医科大学南京医科大学 第二附属医院第二附属医院 肥厚型心肌病最新指南解读 至精至诚 至善至爱 先证者 之兄 先证者 之二姐 先证者 之大姐 先证者 先证者 之弟 先证者 之长子 先证者 之次子 先证者 之父 先证者 之母 肥厚性心肌病肥厚性心肌病家系图家系图 至精至诚 至善至爱 先证者心电图先证者心电图 至精至诚 至善至爱 图4 心脏四腔心平面 图5 心脏三腔心平面 提示左心室心肌壁明显增厚 先证者心脏先证者心脏MRIMRI 至精至诚 至善至爱 先证者之兄：男性，先证者之兄：男性，5858岁岁 至精至诚 至善至爱 至精至诚 至善至爱 至精至诚 至善至爱 心心 肌肌 病病 心肌病是指各种病因引起的一组非均质的 心肌病变，以心肌损害为特征，包括心脏 机械和电活动的异常，伴有心功能障碍的 心脏疾病，病因多种多样。 至精至诚 至善至爱 Definition and Classification of Cardiomyopathy 1980 s 1995 WHO/ISFC 2006 AHA Contemporary Classification 2006 Scientists Consensus on Cardiomyopathy in China 2008 ESC Classification 心心 肌肌 病病 至精至诚 至善至爱 心肌病分类心肌病分类 原发性心肌病及继发性心肌病 原发性心肌病(Primary cardiomyopathies) 病变仅局限于心脏的心肌。 继发性心肌病(Secondary cardiomyopathies)心肌病病变是全身多器 官病变的一部分。 酒精性心肌病 药物性心肌病 围生期心肌病 代谢性心肌病 免疫性心肌病 心脏瓣膜病致心肌病 其他继发性心肌病变 至精至诚 至善至爱 非缺血性心肌病非缺血性心肌病 /heart/disorders/heartfailure/cardiomyopathy.aspx 至精至诚 至善至爱 HCM is a genetic disease There are at least 2 millions HCM patients in China It will be more often to see in elder patients The most new guideline for HCM from ACC/AHA 肥厚型心肌病肥厚型心肌病 至精至诚 至善至爱 11个-明确；11-个别报告， 23个，NEXN 肥厚型心肌病：遗传病，先心病 至精至诚 至善至爱 JACC和Circulation同时发表肥厚型心肌病的指 南，总共57页。是2003年AHA/ACC有关HCM， 2006年心肌病分类，2008年欧洲心肌病共识后 的有关心肌病重要阐述。 从HCM发病、临床分类、诊断、治疗，每一个方 面均提出了建议。 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy 肥厚型心肌病肥厚型心肌病 Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy Developed in Collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons American College of Cardiology Foundation and American Heart Association, Inc. Bernard J. Gersh, MB, ChB, DPhil, FACC, FAHA, Co-Chair Barry J. Maron, MD, FACC, Co-Chair Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Classification of Recommendations and Levels of Evidence A recommendation with Level of Evidence B or C does not imply that the recommendation is weak. Many important clinical questions addressed in the guidelines do not lend themselves to clinical trials. Although randomized trials are unavailable, there may be a very clear clinical consensus that a particular test or therapy is useful or effective. *Data available from clinical trials or registries about the usefulness/ efficacy in different subpopulations, such as sex, age, history of diabetes, history of prior myocardial infarction, history of heart failure, and prior aspirin use. For comparative effectiveness recommendations (Class I and IIa; Level of Evidence A and B only), studies that support the use of comparator verbs should involve direct comparisons of the treatments or strategies being evaluated. Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Evaluation of familial inheritance and genetic counseling is recommended as part of the assessment of patients with HCM. HCM病人必须做家庭遗传和基因评估。 Patients who undergo genetic testing should also undergo counseling by someone knowledgeable in the genetics of cardiovascular disease so that results and their clinical significance can be appropriately reviewed with the patient. HCM专家除应有心血管知识外还应有遗传学背景。 Screening (clinical, with or without genetic testing) is recommended in first-degree relatives of patients with HCM. HCM病人的一级家属需做临床和/或基因检测。 Genetic Testing Strategies/Family Screening I IIa IIb III I IIa IIb III I IIa IIb III Diagnosis Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Genetic testing for HCM and other genetic causes of unexplained cardiac hypertrophy is recommended in patients with an atypical clinical presentation of HCM or when another genetic condition is suspected to be the cause. 不典型的HCM更需行基因检测。 The usefulness of genetic testing in the assessment of risk of SCD in HCM is uncertain. 基因检测对预测猝死风险无确定意义。 Genetic Testing Strategies/Family Screening I IIa IIb III Diagnosis I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Genetic testing is not indicated in relatives when the index patient does not have a definitive pathogenic mutation. 先证者基因突变不明确时，亲属没有必要再检测基因。 Ongoing clinical screening is not indicated in genotypenegative relatives in families with HCM. HCM的亲属基因阴性者不必再做临床筛查。 I IIa IIb III I IIa IIb III No Benefit No Benefit Genetic Testing Strategies/Family Screening Diagnosis Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Genotype-Positive/Phenotype-Negative Patients In individuals with pathogenic mutations who do not express the HCM phenotype, it is recommended to perform serial ECG, TTE, and clinical assessment at periodic intervals (12 to 18 months in children and adolescents and about every 5 years in adults), based on the patients age and change in clinical status. 基因突变阳性但无临床HCM表型的患者成人每1-1.5年，儿童每5 年一次的ECG、UCG和临床评估是必须的。 I IIa IIb III Diagnosis Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Diagnosis Electrocardiography A 12-lead ECG is recommended in the initial evaluation of patients with HCM. 12导ECG初诊者必须。 Twenty-fourhour ambulatory (Holter) electrocardiographic monitoring is recommended in the initial evaluation of patients with HCM to detect VT and identify patients who may be candidates for ICD therapy. Holter初诊者必须以明确VT和是否需要接受ICD治疗。 Twenty-fourhour ambulatory (Holter) electrocardiographic monitoring or event recording is recommended in patients with HCM who develop palpitations or lightheadedness. 心悸和头晕的HCM患者需查Holter。 I IIa IIb III I IIa IIb III I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Electrocardiography A repeat ECG is recommended for patients with HCM when there is worsening of symptoms. HCG症状加重时均应重复查ECG。 A 12-lead ECG is recommended every 12 to 18 months as a component of the screening algorithm for adolescent first degree relatives of patients with HCM who have no evidence of hypertrophy on echocardiography. HCM一级青少年亲属，超声心动图检查心肌肥厚阴性者，应 每1-1.5年做一次12导ECG。 A 12-lead ECG is recommended as a component of the screening algorithm for first-degree relatives of patients with HCM. HCM一级亲属应做12导ECG。 I IIa IIb III I IIa IIb III I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Electrocardiography Twenty-fourhour ambulatory (Holter) electrocardiographic monitoring, repeated every 1 to 2 years, is reasonable in patients with HCM who have no previous evidence of VT to identify patients who may be candidates for ICD therapy. 先前不患有VT的HCM病人每1-2年应该做一次Holter来确认是否需要进行 ICD治疗。 Annual 12-lead ECGs are reasonable in patients with known HCM who are clinically stable to evaluate for asymptomatic changes in conduction or rhythm (i.e., AF). 临床症状稳定的HCM患者应每年做一次12导ECG，观察是否存在无症状心 导和心律的改变。 Twenty-fourhour ambulatory (Holter) electrocardiographic monitoring might be considered in adults with HCM to assess for asymptomatic paroxysmal AF/atrial flutter. HCM成年患者考虑做Holter以评估无症状的阵发性房颤和房扑。 I IIa IIb III I IIa IIb III I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Diagnosis Imaging Echocardiography A TTE is recommended in the initial evaluation of all patients with suspected HCM. 所有疑似HCM病人都应做TTE。 A TTE is recommended as a component of the screening algorithm for family members of patients with HCM unless the family member is genotype negative in a family with known definitive mutations. 除了明确突变基因型阴性的家庭成员，其他HCM的家属都应做TTE. Periodic (12 to 18 months) TTE screening is recommended for children of patients with HCM, starting by age 12 years or earlier if a growth spurt or signs of puberty are evident and/or when there are plans for engaging in intense competitive sports or there is a family history of SCD. HCM患者的孩子，应1-1.5年进行一次TTE筛查，如果青春期生长突增或 参加剧烈竞技活动或有SCD家族史，应更早一些。 I IIa IIb III I IIa IIb III I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Echocardiography Repeat TTE is recommended for the evaluation of patients with HCM with a change in clinical status or new cardiovascular event. 对临床症状发生改变和新发血管事件的HCM患者应重复做TTE 进行评估。 A TEE is recommended for the intraoperative guidance of surgical myectomy. 拟行心肌切除手术的病人术前应做TEE。 TTE or TEE with intracoronary contrast injection of the candidates septal perforator(s) is recommended for the intraprocedural guidance of alcohol septal ablation. 术中酒精间隔消融，应用candidates 间隔穿孔器冠脉内注 射对比剂行TTE或TEE。 I IIa IIb III I IIa IIb III I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Echocardiography TTE should be used to evaluate the effects of surgical myectomy or alcohol septal ablation for obstructive HCM. 心肌切除术或酒精间隔消融治疗梗阻性HCM的效果评估应行TTE。 TTE studies performed every 1 to 2 years can be useful in the serial evaluation of symptomatically stable patients with HCM to assess the degree of myocardial hypertrophy, dynamic obstruction, and myocardial function. 对于有症状的稳定HCM患者每1-2年做一次TTE检查可以评估患者 心肌肥厚程度、动态梗阻以及心肌功能。 I IIa IIb III I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Exercise TTE can be useful in the detection and quantification of dynamic LVOT obstruction in the absence of resting outflow tract obstruction in patients with HCM. 对不存在静息流出道梗阻的HCM患者，运动TTE对动态LVOT梗阻的检出和 定量有益。 TEE can be useful if TTE is inconclusive for clinical decision making about medical therapy and in situations such as planning for myectomy, exclusion of subaortic membrane or mitral regurgitation secondary to structural abnormalities of the mitral valve apparatus, or in assessment for the feasibility of alcohol septal ablation. 对于临床上准备进行药物治疗和心肌切除术，或排除二尖瓣结构异常型 反流，或酒精间隔消融评估的病人，如果TTE不能下结论，考虑用TEE。 TTE combined with the injection of an intravenous contrast agent is reasonable if the diagnosis of apical HCM or apical infarction or severity of hypertrophy is in doubt, particularly when other imaging modalities such as CMR are not readily available, not diagnostic, or are contraindicated. 若心尖HCM或心尖心肌梗死或肥厚的严重程诊断不明确，尤其是当其它成 像模式（如CMR）不能有效诊断时，TTE联合静脉对比注射可行。 I IIa IIb III I IIa IIb III I IIa IIb III Echocardiography Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Echocardiography Serial TTE studies are reasonable for clinically unaffected patients who have a first-degree relative with HCM when genetic status is unknown. Such follow-up may be considered every 12 to 18 months for children or adolescents from high-risk families and every 5 years for adult family members. 对于患HCM的一级亲属，若基因情况不明，临床表现不明显，可考虑连 续做TTE，来自高危家庭的后代在儿童或青少年时期应考虑每1-1.5年 接受一次随访，成年人每5年一次。 TTE studies should not be performed more frequently than every 12 months in patients with HCM when it is unlikely that any changes have occurred that would have an impact on clinical decision making. 当不太可能发生对临床决策有影响的改变时，TTE用于HCM患者检测频 率不应高于每年一次。 Routine TEE and/or contrast echocardiography is not recommended when TTE images are diagnostic of HCM and/or there is no suspicion of fixed obstruction or intrinsic mitral valve pathology. 当TTE成像能够诊断HCM、稳定型梗阻或原有二尖瓣病变时，不应做TEE 或对比剂超声心动图检查。 I IIa IIb III I IIa IIb III I IIa IIb III No Benefit No Benefit Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Stress Testing Treadmill exercise testing is reasonable to determine functional capacity and response to therapy in patients with HCM. HCM患者，为测定心脏功能和治疗反应，踏板运动试验可行。 Treadmill testing with monitoring of an ECG and blood pressure is reasonable for SCD risk stratification in patients with HCM. HCM患者为进行SCD危险分层，踏板试验监测ECG和高血压可行。 In patients with HCM who do not have a resting peak instantaneous gradient of greater than or equal to 50 mm Hg, exercise echocardiography is reasonable for the detection and quantification of exercise-induced dynamic LVOT obstruction. 对于静息状态压力差不高于50毫米汞柱的HCM患者，运动超声心动图可用 于检测评估运动诱发的动态LVOT梗阻。 I IIa IIb III I IIa IIb III I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Cardiac Magnetic Resonance CMR imaging is indicated in patients with suspected HCM when echocardiography is inconclusive for diagnosis. 对于HCM疑似患者，当超声心动图诊断不准确时，使用CMR成像指征。 CMR imaging is indicated in patients with known HCM when additional information that may have an impact on management or decision making regarding invasive management, such as magnitude and distribution of hypertrophy or anatomy of the mitral valve apparatus or papillary muscles, is not adequately defined with echocardiography. 对于确诊的HCM患者，其他临床指征可能对处理或做侵入性处理决定（ 例如心肌肥厚的幅度和分布，或二尖瓣结构或乳头肌的解剖）有影响， 而用超声心动图检查不明确时，应该采用CMR成像作为指征。 CMR imaging is reasonable in patients with HCM to define apical hypertrophy and/or aneurysm if echocardiography is inconclusive. 对HCM患者，如果超声心动图不能确定，为明确心尖肥厚及/或动脉瘤， CMR成像可行。 I IIa IIb III I IIa IIb III I IIa IIb III Diagnosis Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Cardiac Magnetic Resonance In selected patients with known HCM, when SCD risk stratification is inconclusive after documentation of the conventional risk factors (Section 6.3.1), CMR imaging with assessment of LGE may be considered in resolving clinical decision making. 在确诊的HCM患者中，若不能通过常规的风险因素确定SCD危险分层时， CMR成像合并LGE评估考虑作为临床决策依据。 CMR imaging may be considered in patients with LV hypertrophy and the suspicion of alternative diagnoses to HCM, including cardiac amyloidosis, Fabry disease, and genetic phenocopies such as LAMP2 cardiomyopathy. 对左室肥厚和疑似HCM以外的诊断，包括心脏淀粉样变、法布里病和遗 传性表型如LAMP2心肌病，可考虑CMR成像。 I IIa IIb III I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Detection of Concomitant Coronary Disease Coronary arteriography (invasive or computed tomographic imaging) is indicated in patients with HCM with chest discomfort who have an intermediate to high likelihood of CAD when the identification of concomitant CAD will change management strategies. 对有胸部不适、中高度冠心病（CAD）可能性的HCM患者，当伴发的CAD检 出会改变临床决策时，应做冠脉造影（侵入性或CTA）。 Assessment of coronary anatomy with CTA is reasonable for patients with HCM with chest discomfort and a low likelihood of CAD to assess for possible concomitant CAD. 对有胸部不适和CAD可能性低的HCM患者，用CAT评估冠脉解剖可行。 I IIa IIb III I IIa IIb III Diagnosis Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Detection of Concomitant Coronary Disease Assessment of ischemia or perfusion abnormalities suggestive of CAD with SPECT or PET MPI (because of excellent negative predictive value) is reasonable in patients with HCM with chest discomfort and a low likelihood of CAD to rule out possible concomitant CAD. 对有胸部不适和CAD可能性低的HCM患者，应该用SPECT或PET MPI来评估 CAD的心肌缺血或灌注异常。 Routine SPECT MPI or stress echocardiography is not indicated for detection of “silent” CAD-related ischemia in patients with HCM who are asymptomatic. 无症状HCM患者隐形的CAD相关缺血检测，不宜使用常规SPECT PET或负荷 超声心动图。 Assessment for the presence of blunted flow reserve (microvascular ischemia) using quantitative myocardial blood flow measurements by PET is not indicated for the assessment of prognosis in patients with HCM. HCM患者血流储备检查不宜使用PET定量检测心肌血流量。 I IIa IIb III I IIa IIb III No Benefit No Benefit I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Asymptomatic Patients For patients with HCM, it is recommended that comorbidities that may contribute to cardiovascular disease (e.g., hypertension ,diabetes, hyperlipidemia, obesity) be treated in compliance with relevant existing guidelines. 对于HCM患者，应遵循现存的相关指南来治疗引起的心血管疾病（如高 血压、糖尿病、高血脂症和肥胖）。 Low-intensity aerobic exercise is reasonable as part of a healthy lifestyle for patients with HCM. 低强度的有氧运动应作为HCM患者健康生活方式之一。 The usefulness of beta blockade and calcium channel blockers to alter clinical outcome is not well established for the management of asymptomatic patients with HCM with or without obstruction. 对于有或没有梗阻的无症状HCM患者，阻滞剂和钙通道阻滞剂改变临 床预后的有效性尚未很好地确定。 I IIa IIb III I IIa IIb III I IIa IIb III Nanjing Medical University The Second Affiliated Hospital of Nanjing Medical University Asymptomatic Patients Septal reduction therapy should not be performed for asymptomatic adult and pediatric patients with HCM with normal effort tolerance regardless of the severity of obstruction. 无症状成人和儿童患者，不管梗阻的严重程度如何都不应做室间隔消融 术。 In patients with HCM with rest