17例巴洛综合征的外科治疗

目的 总结17例巴洛综合征的手术治疗,并对其诊断、病因、手术方法进行初步探讨.方法 2005年8月至2007年12月,17例经临床、心脏超声及术后病理确诊有巴洛综合征病人,行二尖瓣成形术或置换术,随访其术后心功能与预后情况,总结巴洛综合征二尖瓣成形术的特点.并对10例上海地区病人进行基因学测序研究,探讨该巴洛综合征病人是否存在FLNA基因的位点发生改变.结果 术后病人心功能均提高至Ⅰ级.12例二尖瓣成形者术后食管超声显示,6例轻微反流,1例轻度反流,5例未测及反流.5例二尖瓣置换术者术后心脏超声均未见反流.所有接受手术治疗者,左心房内径、左心室舒张末内径及左室收缩末内径均较术前明显缩小(P<0.05).基因学测序结果显示,10例病人中有2例在FLNA的EXON1的5'UTR区域G10A位点发生改变.结论 二尖瓣手术(成形术或置换术)是治疗巴洛综合征的有效手段.巴洛综合征的二尖瓣成形术修复较难,有其特殊性,要警惕SAM现象,不能勉强修复;二尖瓣置换术也是一种很好的选择.部分巴洛综合征病人在FLNA的EXON 1的5'URT区域G10A有基因位点改变.

Surgical treatment of Barlow syndrome: report of17 cases

Objective We reported our experience of the traetment for 171 patients of Barlow syndrome, tryring to investigate the etiology, the diagnosis, and the surgical procedure of Barlow syndrome. Methods From August 2005 to December2007, 17cases were diagnosed as Barlow syndrome by echoceardiography and histology, and they received mitral valve plasty (MVP) or mitred valve replacement (MVR) treatment. Echocardiography information was followed up and compared between patients of MVP and petients of MVR. Gene sequencing was performed in 10 patients of Shanghai to investigate the linkage of FLNA mutation mutation and Barlow sydrome. Resells The heart function of all petients reached NYHA I after surgical treament. Transesophangeal echocerdiography showed no/ mild regurgitation after MVP. All patients received a significant decrease d the diameter (P <0.05) in left atrium (LA), left ven- tricular end systolic diamter (LVESD), and left ventricular end diastolic diameter(LVEDD) after operation as compared to tbose be- fore operation. There was no significant difference of heart diameters between MVR ad MVP groups. In addition, genetic mutation in GIOA of 5'UTR region of FLNA was found in 2 petiems.Conclusion Both MVP and MVR are effective surgical procedure to treat Barlow syndrome. Though the procedure of MVP in the patients of Barlow syndrome is complex, it is highly recommended to treat these petients. When MVP is perfomed, try to avoid the phenomena of systolic anterior motion (SAM) of mitral valve. MVR is an alternate choice for these petients. Genetic mutation on G10A d 5'UTR region d FLNA were found in two petients.