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目的探讨国人肥厚型心肌病合并短QT间期患者临床和分子遗传学特征。方法收集肥厚型心肌病并短QT间期患者的临床资料和血样标本,利用DNA直接测序法对10个候选离子通道基因(SCN5A、HERG、KC-NQ1、KCNJ13、Kir2.1(KCNJ2)、KV4.2、KV4.3、Kir3.1、KV1.5及CACNA1C)的外显子,及外显子和内含子交界区进行测序,寻找基因变异,并分析其发生心源性猝死风险。结果收集到肥厚型心肌病并短QT间期患者1例,其父亲心源性猝死。心脏超声显示室间隔和左室后壁轻度增厚,左房轻度扩大。常规心电图显示QT间期缩短(QTc340 ms)和早期复极。Holter显示房性早搏、室性早搏。未发现10个候选基因的基因突变,发现4个基因多态性:即KCNQ1基因S546S(c.1638G>A);CACNA1C基因E1865K(c.5593G>A)、T1870M(c.5609C>T)及P1883P(c.5649A>G)。结论首次报道国人肥厚型心肌病合并短QT间期患者,未发现其与心脏钠通道、钾通道及钙通道主要编码基因的突变有关。结合个人临床表现和家族史,患者需要严密随访,预防心源性猝死发生。
Objective To investigate the clinical and molecular genetic characteristics of patients with hypertrophic cardiomyopathy complicated with short QT interval. Methods The clinical data and blood samples of hypertrophic cardiomyopathy patients with short QT interval were collected. Ten candidate ion channel genes (SCN5A, HERG, KCNJ1, KCNJ1, KK2.1, KV4 .2, KV4.3, Kir3.1, KV1.5 and CACNA1C) exons and exons and intron boundaries were sequenced to find genetic variations and to analyze their risk of developing sudden cardiac death. Results One patient with hypertrophic cardiomyopathy and short QT interval was collected and his father died of sudden cardiac death. Echocardiography showed mild ventricular septal and posterior wall thickening of the left atrium with mild enlargement. Conventional ECG showed QT interval shortening (QTc340 ms) and early repolarization. Holter shows atrial premature beats, premature ventricular contractions. No gene mutation was found in the 10 candidate genes, and four gene polymorphisms were found: S546S (c.1638G> A), C184N (C.5593G> A), T1870M (c.5609C> T) P1883P (c.5649A> G). Conclusions The first report of hypertrophic cardiomyopathy in Chinese patients with short QT interval was not found to be associated with mutations in the major coding genes of sodium channels, potassium channels and calcium channels. Combined with personal clinical manifestations and family history, patients need close follow-up to prevent the occurrence of sudden cardiac death.