杜志峰,侯瑞田,丁華杰,王勝林(承德醫(yī)學(xué)院附屬醫(yī)院:.骨傷科;.心內(nèi)科;.超聲科;.影像科,河北承德 067000)

馬方綜合征合并左室心肌致密化不全1例報(bào)道

杜志峰1,侯瑞田2,丁華杰3,王勝林4
(承德醫(yī)學(xué)院附屬醫(yī)院:1.骨傷科;2.心內(nèi)科;3.超聲科;4.影像科,河北承德 067000)

1 臨床資料

患者,女,15歲,因父母發(fā)現(xiàn)其持物不穩(wěn)及不能完成跳繩動(dòng)作而就診,追問患者偶發(fā)頭痛?查體:體形消瘦,眼球前凸,頸靜脈無怒張,兩側(cè)胸廓不對(duì)稱,漏斗胸(輕度),雙肺呼吸音清,未聞及干濕性啰音;心尖搏動(dòng)范圍正常,心率80次/分,心臟相對(duì)濁音界正常,各瓣膜聽診區(qū)未聞及雜音?周圍血管無毛細(xì)血管搏動(dòng)及水沖脈?腹部及神經(jīng)檢查陰性,雙下肢無水腫?蜘蛛指(雙手纖長(zhǎng)),指征及腕征陽性,脊柱側(cè)彎,足弓過高,關(guān)節(jié)松弛,雙上肢肌力正常,右下肢肌力4級(jí),左下肢肌力5級(jí),各病理征陰性?血?尿常規(guī)及各項(xiàng)生化檢查未見異常;24h動(dòng)態(tài)心電圖示偶發(fā)房性期前收縮,見圖1;心臟彩超示左心室心肌致密化不全,見圖2;肺部平片未見異常,脊柱正?側(cè)位X線片示脊椎側(cè)彎,見圖3;脊髓MRI示頸2至胸1硬膜囊擴(kuò)張,見圖4?診斷:馬方綜合征,左心室心肌致密化不全?

圖1 24h動(dòng)態(tài)心電圖示偶發(fā)房性期前收縮

圖2 心臟彩超示左心室心肌致密化不全

圖3 脊柱正位X線片示腰椎側(cè)彎

圖4 頸髓MRI示硬膜囊輕度擴(kuò)張

2 討 論

馬方綜合征是人類第15號(hào)常染色體長(zhǎng)臂上FBN1基因缺陷所致的全身性結(jié)締組織遺傳病[1]?臨床主要以心血管?眼和骨骼肌肉系統(tǒng)受累為主,其中30.00%～60.00%的患者有血管系統(tǒng)異常?馬方綜合征患者心血管系統(tǒng)病變中主動(dòng)脈根部擴(kuò)張占93.80%,主動(dòng)脈瓣關(guān)閉不全占87.50%,主動(dòng)脈夾層占46.90%,二尖瓣脫垂占12.50%,主動(dòng)脈竇瘤占6.20%,肺動(dòng)脈擴(kuò)張占3.10%,心包積液占12.50%,二葉主動(dòng)脈瓣占6.20%,房間隔缺損占3.10%,主動(dòng)脈縮窄占1.00%[2]?

心肌致密化不全是一種罕見的原發(fā)性心肌病?2006年美國(guó)心臟病協(xié)會(huì)(AHA)將心肌致密化不全歸為遺傳性心肌病,2008年歐洲心臟病協(xié)會(huì)(ESC)將其歸為未定型心肌病?心肌致密化不全的發(fā)病率為0.05%～0.24%[3],有家族聚集傾向,日本家族發(fā)病率為44.00%,中國(guó)為18.00%～40.00%[4-5]?有研究認(rèn)為心肌致密化不全與常染色體18q?11q?10q基因突變有關(guān)[6-8]?心肌致密化不全臨床癥狀出現(xiàn)的早晚及輕重與病變范圍有關(guān),以心力衰竭?心律失常?血栓栓塞為三大臨床表現(xiàn),患者心臟性猝死發(fā)生率高達(dá)13.00%～18.00%[9-11],室性快速性心動(dòng)過速被認(rèn)為是一種最常見的致死原因,大多數(shù)心肌致密化不全患者在確診時(shí)已具有室性心律失常及心力衰竭癥狀,而本病多與生俱來,故而早期診斷將直接影響患者的生存率,早期診斷并早期應(yīng)用植入性心臟除顫器(ICD)對(duì)患者(尤其是有室性快速性心律失常患者)的預(yù)后均大有裨益[12-14]?以往研究未發(fā)現(xiàn)心肌致密化不全患者合并有典型馬方綜合征[15],而眾多關(guān)于馬方綜合征心臟病報(bào)道中,亦無心肌致密化不全記載[2],本例的發(fā)現(xiàn)無疑對(duì)二者互相參診具有重要意義?

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[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.

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[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)

?臨床護(hù)理?