Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group.
Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group.
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DOI：
10.1161/jaha.114.001493
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发表时间：
2014-11-25
影响因子：
5.4
通讯作者：
International Tuberous Sclerosis Consensus Group
中科院分区：
文献类型：
--
作者：
Hinton RB;Prakash A;Romp RL;Krueger DA;Knilans TK;International Tuberous Sclerosis Consensus Group
结节性硬化症（TSC）是一种具有高度可变表型的遗传综合征，可影响多个器官系统。中枢神经系统的发现是第一个被描述的，此后不久，认知障碍、面部血管纤维瘤和癫痫发作的经典三位一体被描述出来。1,2随着器官受累的变异性和程度的认识，诊断标准逐渐发展为包括主要和次要标准，这些标准结合在一起将导致明确的、可能的或可能的临床诊断。3,4自从最近诊断标准的改进以来，在了解TSC的遗传基础和发病机制方面取得了巨大进展，并建立了新的治疗策略，显著影响了TSC患者协调护理的各个方面。结节性硬化症联盟。tsalliance。世卫组织（who）召集了一次由8个工作组组成的共识会议，制定了《诊断标准修订版》和新的《监测和管理指南》，目的是创建“活文件”，以适应快速发展和协调护理的需要。会议的部分信息来自最近对主要意见领袖进行的选民调查，该调查总结了临时进展、需要进一步研究的领域、未满足的医疗需求以及取得进展的障碍。本报告的目的是强调新的诊断标准和管理指南，因为它们与心脏病学有关，并扩大对TSC患者最佳心脏护理相关问题的考虑。TSC的特征是广泛的错构瘤，或正常组织的异常生长。心脏横纹肌瘤是由心肌细胞组成的错构瘤生长或良性肿瘤，是TSC中典型的新生儿心脏病表现。其他心脏疾病，如心律失常，发生在生命的后期，强调了持续心脏病学护理的重要性。在这里，我们回顾了已知的TSC心脏表现的自然史，重点是诊断测试、监测和治疗。
Tuberous sclerosis complex (TSC) is a genetic syndrome with a highly variable phenotype that may affect several organ systems. The central nervous system findings were the first to be described, and the classic triad of cognitive impairment, facial angiofibromas, and seizures was delineated shortly thereafter. 1, 2 As the variability and extent of organ involvement were appreciated, diagnostic criteria evolved to include major and minor criteria that taken together would lead to a definite, probable, or possible clinical diagnosis. 3, 4 Since the most recent refinement of the diagnostic criteria, dramatic advances have been made in understanding the genetic basis and pathogenesis of TSC, and new treatment strategies have been established, significantly affecting all aspects of coordinated care for TSC patients. The Tuberous Sclerosis Alliance (www. tsalliance. org) convened a Consensus Conference composed of 8 working groups that generated Revised Diagnostic Criteria5 and new Surveillance and Management Guidelines6 with the intention of creating “living documents” to accommodate rapid advances and the need for coordination of care. The conference was informed in part by a recent constituency survey of key opinion leaders, which summarized interim progress, areas in need of further research, unmet medical needs, and barriers to progress. 7 The goals of this report are to highlight the new diagnostic criteria and management guidelines as they pertain to cardiology and to expand consideration of the issues relevant to optimal cardiac care of patients with TSC.TSC is characterized by widespread hamartomas, or abnormal growth of normal tissues. Cardiac rhabdomyomas are hamartomatous growths or benign tumors composed of cardiac myocytes, and they represent the classic neonatal manifestation of cardiac disease in TSC. Additional cardiac diseases such as arrhythmia occur later in life, underscoring the importance of ongoing cardiology care. Here, we review what is known about the natural history of cardiac manifestations in TSC with an emphasis on diagnostic testing, surveillance, and treatment.