2016-08-012024-05-13https://scholars.lib.ntu.edu.tw/handle/123456789/648761摘要：雖然左心出口狹窄之先天性心臟病在亞洲族群可能發生率較低，但由我國2000-2006全國資料庫資料顯示，主動脈縮窄之發生率仍與歐美各國相近，約在0.251/1000活產兒。這些病人即使在適當的開刀或心導管性治療後，仍有相當的概率會有左心出口狹窄、主動脈病變、高血壓及腦血管病變及出血等風險。我們之前的研究發現，本院病人接受治療後在20歲時，大約有一半的病人有可能有高血壓。而這種高血壓與Renin-Angiotensin-aldosterone系統啟動無明顯直接相關。此外，合併Tuner等症候群之主動脈縮窄病兒易合併主動脈病變，以氣球擴張術治療主動脈縮窄再狹窄時易有dissection之風險。然而這些資料仍相當有限，且多為個案報告或小規模病人群之研究。至於主動脈縮窄之病人，亦有可能發生逐漸左心室功能不良與猝死。但相關之風險機轉研究則闕如。左心室功能不良常導致再極化異常及心律不整。當病人併有再極化離子通道基因變異時，將導致類似 Acquired long QT syndrome, 增加再極化異常嚴重度，增加心律不整與猝死之概率。本研究之立點與探討方式1. 主動脈縮窄病人是相對常見之先天性心臟病，由我國10年以上之健保資料庫，可以有適當病人數藉以界定在現今醫療下，這種病人之長期預後及相關之合併症及其處理。2. 本院由1986年到2013年亦約有300人其臨床資料，將能提供詳細之發病、治療與預後之演變過程，並藉以成立”主動脈縮窄病人追蹤原則”。3. 由以上研究族群資料亦可界定主動脈縮窄病人合併Tuner症候群等基因學變化對預後之影響，這將有助於這群病人治療選擇。4. 由以上研究結果將可協助建立主動脈縮窄病人之風險評估表。此外，我們將對主動脈縮窄病人測定其再極化基因變異，並檢驗其臨床意義。以及，加入此再極化基因變異之風險評估表後，預測效度及強度之改變。藉以多向評估主動脈縮窄病人之長期預後與風險。主動脈縮窄病人之風險評估表<br> Abstract: The incidence of coarctation of Aorta (CoA) from Taiwan national database 2000-2006 was 0.251/1000, which is quite close to that from western reports. Late follow up of these CoA patients after repair still revealed significant risk of multi-level left ventricular outflow obstruction, systemic hypertension, aortopathy and even intracaranial aneurysms/hemorrhage. From our previous institutional cohort study, the 20-year freedom from systemic hypertension was around half and was not related to levels of renin and angiotensin. Besides, we also noted that patients with syndromic CoA was associated with higher risk of dissection upon balloon angioplasty even for recurrent CoA. Nevertheless, the studies are still few and mostly are limited to institutional or case series report. CoA patients are also at risk of sudden death. We have documented that CHD patients, if also having coexisting single nucleotide polymorphism or mutation of QT genes, are at higher risk of sudden death from a clinical scenario of acquired long QT syndrome, i.e., decreased repolarization reserve from conduction disturbances after CHD repair, ventricular dysfunction and long QT gene polymorphism.Study rationale and interventions1. CoA patients constitute a major CHD patient population in which effective surveillance should be able to identify and prevent the late complications. The national health insurance database spanning for 11 years (2000-2010) shall be adequate to elucidate the spectrum of late cardiovascular complications.2. The longitudinal profile of the late cardiovascular function of CoA patients shall be examined in our institutional cohort which will be the basis for the establishment of an “CoA follow up program”.3. Genetic influence will be examined on the associated Tuner syndrome on the long-term outcomes, as well as on the risk stratification for the ventricular arrhythmias. Primary endpoints: life-threatening arrhythmias or sudden cardiac death Secondary endpoints: significant ventricular arrhythmias on Holter monitoring