Pacing in adults with congenital heart disease

Adults with congenital heart disease constitute one of the fastest growing populations in cardiology. Pacing is an integral part of their therapy and may reduce their morbidity and mortality significantly. The current generation of pacemakers is more sophisticated and complex, and they are being utilized for indications other than conduction abnormalities, such as termination of tachycardia and improvement of heart failure. The complex anatomy and history of multiple previous surgeries in adults with congenital heart disease, however, pose many limitations and technical challenges related to the placement of a pacemaker. Unique and innovative approaches to endocardial lead placement and improved epicardial leads is making pacemaker implantation more feasible in these patients.     

Tachyarrhythmias and catheter ablation in adult congenital heart disease

Advances in surgical technique have had an immense impact on longevity and quality of life in patients with congenital heart disease. However, an inevitable consequence of these surgical successes is the creation of a unique patient population whose anatomy, surgical history and haemodynamics result in the development of a challenging and complex arrhythmia substrate. Furthermore, this patient group remains susceptible to the arrhythmias seen in the general adult population. It is through a thorough appreciation of the cardiac structural defect, the surgical corrective approach, and haemodynamic impact that the most effective arrhythmia care can be delivered. Catheter ablation techniques offer a highly effective management option but require a meticulous attention to the real-time integration of anatomical and electrophysiological information to identify and eliminate the culprit arrhythmia substrate. This review describes the current approach to the interventional management of patients with tachyarrhythmias in the context of congenital heart disease.     

Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare, recessively inherited genetic disorder with varying clinical presentation that is caused by ADAMTS13 mutations. Several studies have found limited associations between ADAMTS13 mutations and cTTP phenotype. The use of in silico tools that examine multiple mutation characteristics may better predict phenotype. We analysed 118 ADAMTS13 mutations found in 144 cTTP patients reported in the literature and examined associations of several mutation characteristics, including N‐terminal proximity, the evolutionary conservation of the affected amino acid position, as well as amino acid charge/phosphorylation and genetic codon usage to disease phenotype. Structure‐altering mutations were examined for their impact on ADAMTS13 function based on existing ADAMTS13 crystallographic data (AA 77‐685). Our in silico data indicate that: (i) The position of the mutation in the N‐ or C‐terminus, (ii) evolutionary conservation and (iii) codon usage of the affected mutation position are associated with disease parameters, such as age of onset, organ damage and fresh frozen plasma prophylaxis. In conclusion, the usage of multiple in silico tools presents a promising strategy in refining predictions for the diverse presentation of cTTP. Enhancing our utilization of in silico tools to find genotype‐phenotype associations will create better‐tailored approaches for individual patient treatment.     

外科手术制备先天性心脏病动物模型的研究进展

小儿先天性心脏病研究领域中动物模型的制备非常困难，目前尚无公认的方法，本文从外科手术制作方法的角度，综述了近年的研究进展，探讨了多种术式在临床应用的前景，为深入开展先天性心脏病发病机制，病理生理变化及治疗的分子，基因水平研究提供基础。     

Absent right atrioventricular connexion with the left atrium connected to the morphologically right ventricle, a right-sided rudimentary left ventricle, and right juxtaposition of the atrial appendages: documentation by angiography and cross-sectional echocardiography

In this report, a 12-hr-old male infant was demonstrated to have the absent connexion variant of right atrioventricular valve atresia with the left atrium connected to the morphologically right ventricle with a right-sided rudimentary left ventricle. The aorta arose from the right ventricle and there was pulmonary atresia, the pulmonary circulation being duct-dependent. In addition there was right juxtaposition of the atrial appendages. The definitive cross-sectional echocardiographic and angiographic findings are presented.     

Fallot四联症的MRI诊断

笔者分析了２１例经心血管造影和手术证实的Ｆａｌｌｏｔ四联症的ＭＲＩ，探讨ＭＲＩ在显示四联症病理解剖中的作用。提出了显示不同解剖结构应采用的扫描方法，认为ＭＲＩ可以较清晰地显示四联症的肺动脉狭窄、室间隔缺损、主动脉骑跨和右心室肥厚。与其他检查方法相比，ＭＲＩ的诊断能力等于或优于超声心动图；在确定室间隔缺损类型、大小，观察右心室肥厚及肺动脉闭锁时观察中央肺动脉方面优于心血管造影检查。     

体肺侧支血管栓塞术在复杂先天性心脏病治疗中的应用

目的评价体肺侧支血管栓塞术在紫绀属复杂先天性心脏病治疗中的价值。方法对在我院进行体肺侧支血管栓塞联合外科手术治疗的７例有丰富体肺侧支形成的紫绀属先天性心脏病患者进行研究。６例为肺动脉闭锁合并室间隔缺损，１例为重型Ｆａｌｏｔ四联症。体肺侧支血管共２２支，应用Ｃｏｏｋ公司的弹簧栓子对其中的１９支（８６％）进行栓塞，共用弹簧栓子４５枚。栓塞完毕后立即送外科行手术治疗。结果１９支体肺侧支血管均栓塞成功，其中１５支（７９％）栓塞完全，４支（２１％）部分栓塞。７例患者行外科手术体外循环中血压易于保持稳定，术后５例顺利痊愈出院，１例术后发生低心排血量综合征，经药物治疗痊愈，１例死于呼吸循环衰竭。结论伴有丰富体肺侧支形成的紫绀属先天性心脏病复杂畸形近９０％的体肺侧支血管可应用弹簧栓子在外科手术前进行栓塞，该方法可降低体外循环的难度，并使外科手术的过程简化。     

先天性心脏病复杂畸形MRI与B超及X线血管造影的影像学对比研究

目的 评估磁共振成像（ＭＲＩ）对先天性心脏病复杂畸形的显示能力。材料与方法 ２１例先天性心脏病复杂畸形患者行磁共振平扫、电影检查,其中８例接受动态增强磁共振血管造影检查（ＤＣＥ－ＭＲＡ）,影像资料与Ｂ超、Ｘ线血管造影检查（ＣＡＧ）对比,部分结果进行统计学处理,１５例经手术证实者对照手术所见。结果 共发现心脏及大血管畸形５５处,磁共振成像、Ｂ超和ＣＡＧ均能很好显示心脏、心肝与大血管连接部分畸形;心脏     

主动脉－左室隧道心血管造影诊断（附三例报告）

目的：报道３例主动脉－左室隧道并讨论其最佳心血管造影投照角度。材料与方法：３例主动脉－左室隧道均由心血管造影作出诊断。３例都为男性，年龄从２岁至１１岁。诊断时采用不同角度的升主动脉及左心室造影。结果：所有３例均经手术证实。右前斜位升主动脉造影对隧道直接征象显示最好。结论：右前斜位升主动脉造影是诊断这一罕见先天性心脏病的最佳心血管造影体位。