肥厚梗阻型心肌病的外科治療.pptVIP

肥厚性梗阻型心肌病的外科治疗 刘晓程 泰达国际心血管病医院 2009-10-10 常染色体显性遗传疾病 发病率1/500 Locus Name Gene Symbol Protein Name OMIM % of HCM Caused by Mutations in This Gene Molecular Genetic Test Availability for HMC 1 Allelic Disorders 2 CMH1 MYH7 Myosin heavy chain, cardiac muscle beta isoform 160760192600 40% Clinical DCM3, Laing distal myopathy CMH4 MYBPC3 Myosin-binding protein C, cardiac-type 600958 40% Clinical DCM CMH2 TNNT2 Troponin T, cardiac muscle 115195 5% Clinical DCM CMH7 TNNI3 Troponin I, cardiac muscle 191044 5% Clinical DCM, restrictive cardiomyopathy CMH3 TPM1 Tropomyosin 1 alpha chain 115196191010 2% Clinical DCM CMH10 MYL2 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform 160781608758 Unknown Clinical CMH8 MYL3 Myosin light polypeptide 3 160790608751 1% Clinical ACTC1 Actin, alpha cardiac muscle 1 102540 Unknown Clinical DCM CSRP3 Cysteine and glycine-rich protein 3, muscle LIM protein 600824 Unknown Research CMH9 TTN Titin 188840 Clinical DCM, Udd distal myopathy MYH6 Myosin heavy chain, cardiac muscle alpha isoform 160710 Research DCM TCAP Telothonin 604488 Research LGMD2G 4, DCM Other genes implicated in HCM 5 TNNC1 Troponin C, slow skeletal and cardiac muscles 191040 Unknown Clinical DCM 1. Per the GeneTests Laboratory Directory 2. Allelic disorders = other phenotypes caused by mutation in the same gene 3. DCM = dilated cardiomyopathy 4. LGMD = limb-girdle muscular dystrophy 5. The consensus of the GeneReview authors is that additional confirmatory data supporting pathogenicity for this gene is necessary. A. 正常心脏B. HCMC. HCM （马森三色染色法） （Images courtesy of Robert Padera, MD Brigham and Women’s Hospital Department of Pathology, Boston, MA.） 组织学 症状 体征 动作或药物对HCM的影响 心室容积 杂音强度 左室流出道压力阶差 握拳 Valsalva动作 亚硝酸戊酯 异丙肾上腺素 β受体阻滞剂 苯肾上腺素 诊断 Brockenbrough–Braunwald–Morrow 征 诊断：心电图 诊断：超声心动图 鉴别诊断 MRI 治疗策略 成功率 适应证 起搏器治疗 经皮室间隔消融术 指标 经皮室间隔酒精消融术 室间隔心肌切除术 切口 腹股沟经皮穿刺 胸骨正中切口 LVOT压力阶差缓解 部分可即时缓解 即时 成功率 (%) 80 95 手术死亡率 (%) 1-2 0-2 恢复时间 2-4 days 1 wk LVOT压力阶差变化 降至