马方综合征合并左室心肌致密化不全1例报道

杜志峰,侯瑞田,丁华杰,王胜林(承德医学院附属医院:.骨伤科;.心内科;.超声科;.影像科,河北承德 067000)

马方综合征合并左室心肌致密化不全1例报道

杜志峰1,侯瑞田2,丁华杰3,王胜林4
(承德医学院附属医院:1.骨伤科;2.心内科;3.超声科;4.影像科,河北承德 067000)

1 临床资料

患者,女,15岁,因父母发现其持物不稳及不能完成跳绳动作而就诊,追问患者偶发头痛｡查体:体形消瘦,眼球前凸,颈静脉无怒张,两侧胸廓不对称,漏斗胸(轻度),双肺呼吸音清,未闻及干湿性啰音;心尖搏动范围正常,心率80次/分,心脏相对浊音界正常,各瓣膜听诊区未闻及杂音｡周围血管无毛细血管搏动及水冲脉｡腹部及神经检查阴性,双下肢无水肿｡蜘蛛指(双手纤长),指征及腕征阳性,脊柱侧弯,足弓过高,关节松弛,双上肢肌力正常,右下肢肌力4级,左下肢肌力5级,各病理征阴性｡血､尿常规及各项生化检查未见异常;24h动态心电图示偶发房性期前收缩,见图1;心脏彩超示左心室心肌致密化不全,见图2;肺部平片未见异常,脊柱正､侧位X线片示脊椎侧弯,见图3;脊髓MRI示颈2至胸1硬膜囊扩张,见图4｡诊断:马方综合征,左心室心肌致密化不全｡

图1 24h动态心电图示偶发房性期前收缩

图2 心脏彩超示左心室心肌致密化不全

图3 脊柱正位X线片示腰椎侧弯

图4 颈髓MRI示硬膜囊轻度扩张

2 讨 论

马方综合征是人类第15号常染色体长臂上FBN1基因缺陷所致的全身性结缔组织遗传病[1]｡临床主要以心血管､眼和骨骼肌肉系统受累为主,其中30.00%～60.00%的患者有血管系统异常｡马方综合征患者心血管系统病变中主动脉根部扩张占93.80%,主动脉瓣关闭不全占87.50%,主动脉夹层占46.90%,二尖瓣脱垂占12.50%,主动脉窦瘤占6.20%,肺动脉扩张占3.10%,心包积液占12.50%,二叶主动脉瓣占6.20%,房间隔缺损占3.10%,主动脉缩窄占1.00%[2]｡

心肌致密化不全是一种罕见的原发性心肌病｡2006年美国心脏病协会(AHA)将心肌致密化不全归为遗传性心肌病,2008年欧洲心脏病协会(ESC)将其归为未定型心肌病｡心肌致密化不全的发病率为0.05%～0.24%[3],有家族聚集倾向,日本家族发病率为44.00%,中国为18.00%～40.00%[4-5]｡有研究认为心肌致密化不全与常染色体18q､11q､10q基因突变有关[6-8]｡心肌致密化不全临床症状出现的早晚及轻重与病变范围有关,以心力衰竭､心律失常､血栓栓塞为三大临床表现,患者心脏性猝死发生率高达13.00%～18.00%[9-11],室性快速性心动过速被认为是一种最常见的致死原因,大多数心肌致密化不全患者在确诊时已具有室性心律失常及心力衰竭症状,而本病多与生俱来,故而早期诊断将直接影响患者的生存率,早期诊断并早期应用植入性心脏除颤器(ICD)对患者(尤其是有室性快速性心律失常患者)的预后均大有裨益[12-14]｡以往研究未发现心肌致密化不全患者合并有典型马方综合征[15],而众多关于马方综合征心脏病报道中,亦无心肌致密化不全记载[2],本例的发现无疑对二者互相参诊具有重要意义｡

[1] Giampietro PF,Raggio C,Davis JG.Marfan syndrome:orthopedic and genetic review[J].Curr Opin Pediatr,2002,14(1):35-41.

[2] 宋芝萍,刘旭,倪幼芳.马方综合征心血管系统临床表现的研究[J].中国实用内科杂志,2000,20(9):542-543.

[3] Stöllberger C,Finsterer J,Blazek G.Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders[J].Am J Cardiol,2002,90(8):899-902.

[4]Ichida F,Hamamichi Y,Miyawaki T,et al.Clinical features of isolated noncompaction of the ventricular myocardium:long-term clinical course,hemodynamic properties,and genetic background[J].J Am Coll Cardiol,1999,34(1):233-240.

[5] 夏利,李华,刘良东.心肌致密化不全一家系[J].中华医学遗传学杂志,2004,21(3):301-301.

[6] Bowles KR,Gajarski R,Porter P,et al.Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23[J].J Clin Invest,1996,98(6):1355-1360.

[7]Ichida F,Tsubata S,Bowles KR,et al.Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome[J].Circulation,2001,103:1256-1263

[8] Sasse-Klaassen S,Probst S,Gerull B,et al.Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15[J].Circulation,2004,109(22):2720-2723.

[9] Chin TK,Perloff JK,Williams RG,et al.Isolated noncompaction of left ventricular myocardium.A study of eight cases[J].Circulation,1990,82(2):507-513.

[10]Zambrano E,Marsh AS,Jaffe CC,et al.Iso lated non compact ion of the ventricularmyocardium:Cl inical and molecular aspects of a rare cardiomyopathy[J].Lab Invest,2002,82(2):117-122.

[11]Oechslin EN,ttenhofer-Jost AT,Rojas JR,et al.Longterm follow up of 34adults with isolated left ventricular non compaction:A distinct cardiomyopathy with poor prognosis[J].J Am Coll Cardiol,2000,36(2):493-500.

[12]Chan YC,Ting CW,Ho P,et al.Ten-year epidemiological review of in-hospital patients with Marfan syndrome[J].Ann Vasc Surg,2008,22(5):608-612.

[13]Kobza R,Jenni R,Erne P,et al.Implantable cardioverter-defibrillators in patients with left ventricular noncompaction[J].Pacing Clin Electrophysiol,2008,31(4):461-467.

[14]Murphy RT,Thaman R,Blanes JG,et al.Natural history and familial characteristics of isolated left ventricular noncompaction[J].Eur Heart J,2005,26(2):187-192.

[15]Tsai SF,Ebenroth ES,Hurwitz RA,et al.Is left ventricular noncompaction in children truly an isolated lesion?[J].Pediatr Cardiol,2009,30(5):597-602.

10.3969/j.issn.1671-8348.2012.18.048

C

1671-8348(2012)18-1892-03

2011-08-24

2011-12-22)

•临床护理•