肥厚梗阻型心肌病外科治疗

1、肥厚梗阻型心肌病外科治疗常染色体显性遗传疾病发病率1/500Locus NameGene SymbolProtein NameOMIM% of HCM Caused by Mutations in This GeneMolecular Genetic Test Availability for HMC 1Allelic Disorders 2CMH1MYH7Myosin heavy chain, cardiac muscle beta isoform16076019260040%ClinicalDCM3, Laing distal myopathyCMH4MYBPC3Myosin-bindin

2、g protein C, cardiac-type60095840%ClinicalDCMCMH2TNNT2Troponin T, cardiac muscle1151955%ClinicalDCMCMH7TNNI3Troponin I, cardiac muscle1910445%ClinicalDCM, restrictive cardiomyopathyCMH3TPM1Tropomyosin 1 alpha chain1151961910102%ClinicalDCMCMH10MYL2Myosin regulatory light chain 2, ventricular/cardiac

3、 muscle isoform160781608758UnknownClinicalCMH8MYL3Myosin light polypeptide 31607906087511%ClinicalACTC1Actin, alpha cardiac muscle 1102540UnknownClinicalDCMCSRP3Cysteine and glycine-rich protein 3, muscle LIM protein600824UnknownResearchCMH9TTNTitin188840ClinicalDCM, Udd distal myopathyMYH6Myosin he

4、avy chain, cardiac muscle alpha isoform160710ResearchDCMTCAPTelothonin604488ResearchLGMD2G 4, DCMOther genes implicated in HCM 5TNNC1 Troponin C, slow skeletal and cardiac muscles191040UnknownClinicalDCM1. Per the GeneTests Laboratory Directory2. Allelic disorders = other phenotypes caused by mutati

5、on in the same gene3. DCM = dilated cardiomyopathy4. LGMD = limb-girdle muscular dystrophy5. 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

6、 Womens 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受体阻滞剂苯肾上腺素诊断 BrockenbroughBraunwaldMorrow 征 诊断：心电图 诊断：超声心动图 鉴别诊断 MRIHCM的转归无症状患者房性或室性心律失常 充血性心力衰竭限制性心肌病 终末期HCM 猝死 (0.1%-0.7%)心室收缩功能减退 治疗策略药物治疗 受体阻滞剂 钙离子拮抗剂 丙吡胺（达舒平） 抗心律失常药物 成功率适应证起搏器治疗经皮

7、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 (%)8095手术死亡率 (%)1-20-2恢复时间2-4 days1 wkLVOT压力阶差变化降至 25 mm Hg降至 8095Procedural mortality (%)1-20-2Recovery time2-4 days1 wkEffect on LVOT gradientDecreases to 25 mm HgDecreases to 10 mm HgPostprocedure conduction abnormalityRight bundle b

8、ranch blockLeft bundle branch blockNeed for permanent pacemakerall patients (%)12-273-10Need for permanent pacemaker if no preexisting conduction abnormalities (%)13%2%Length of follow-up (yr)6-830-40Surgical techniques for outflow obstruction in patients with HCMSurgeonYearProcedureCleland1958Trans

9、aortic septal myectomyMorrow1960Transaortic myotomy/myectomyKirklin1961Transaortic/transventricular myectomyLillihei1963Transatrial myectomy, detachment mitral valveJohnson1964Transatrial mitral valve replacement, myectomyCooley1967Trans-right ventricular septal myectomyStinson1968Cardiac transplant

10、ationCooley1970Mitral valve replacement without myectomyRastan, Konno1975AortoventriculoplastyBerhard, Cooley1976Apicoaortic conduitVouhe1984Trans-right ventricular myectomyAlvarez-Diaz1984Trans-right ventricular myectomy, patchSurgery for HCMClassical Morrow ProcedureSurgery for HCMModified MorrowP

11、rocedureClassical Morrow ProcedureModified Morrow ProcedureMean pressure gradient post-op.13-26mmHg5-8mmHgRe-op. ratio5 yrs 12%5%Aortic Incision Combined Incisions Gender M 2 / F 3M 5 / F 4Age 6-62 yrs19-77 yrsSymptomsSyncope 1 Angina 1 syncope 1 Angina 2Concomitant DiseasesAS 1 MS 1CAD 2IVS-Td18-22mm (20.21.48)18mm (6 yrs pt)20-28mm (253.56)Gradient 99-172mmHg(133.627.33)86-146mmHg(128.824.86)Concomitant ProceduresAVR 1 MVR 1(Transventricular)CABG 4Surgery for HCM: Information of patientsAortic inci