Chockalingam Priya, Mizusawa Yuka, Wilde Arthur Am
Cardiac Wellness Institute, Chennai, India.
Academic Medical Center, Amsterdam, The Netherlands.
Indian Pacing Electrophysiol J. 2015 Apr 1;15(1):43-54. doi: 10.1016/s0972-6292(16)30841-5. eCollection 2015 Jan-Feb.
In spite of their relative rarity, inheritable arrhythmias have come to the forefront as a group of potentially fatal but preventable cause of sudden cardiac death in children and (young) adults. Comprehensive management of inherited arrhythmias includes diagnosing and treating the proband and identifying and protecting affected family members. This has been made possible by the vast advances in the field of molecular biology enabling better understanding of the genetic underpinnings of some of these disease groups, namely congenital long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. The ensuing knowledge of the genotype-phenotype correlations enables us to risk-stratify, prognosticate and treat based on the genetic test results. The various diagnostic modalities currently available to us, including clinical tools and genetic technologies, have to be applied judiciously in order to promptly identify those affected and to spare the emotional burden of a potentially lethal disease in the unaffected individuals. The therapeutic armamentarium of inherited arrhythmias includes pharmacological agents, device therapies and surgical interventions. A treatment strategy keeping in mind the risk profile of the patients, the local availability of drugs and the expertise of the treating personnel is proving effective. While opportunities for research are numerous in this expanding field of medicine, there is also tremendous scope for incorporating the emerging trends in managing patients and families with inherited arrhythmias in the Indian subcontinent.
尽管遗传性心律失常相对罕见,但它们已成为儿童和(年轻)成年人心脏性猝死的一组潜在致命但可预防的原因,备受关注。遗传性心律失常的综合管理包括诊断和治疗先证者以及识别和保护受影响的家庭成员。分子生物学领域的巨大进展使这成为可能,这些进展有助于更好地理解其中一些疾病群体的遗传基础,即先天性长QT综合征、儿茶酚胺能多形性室性心动过速和Brugada综合征。由此产生的基因型与表型相关性的知识使我们能够根据基因检测结果进行风险分层、预后评估和治疗。我们目前可用的各种诊断方法,包括临床工具和基因技术,必须谨慎应用,以便及时识别那些受影响的人,并避免未受影响个体承受潜在致命疾病的情感负担。遗传性心律失常的治疗手段包括药物治疗、器械治疗和手术干预。一种考虑到患者风险状况、当地药物可及性和治疗人员专业知识的治疗策略已被证明是有效的。虽然在这个不断扩展的医学领域有很多研究机会,但在印度次大陆,将管理遗传性心律失常患者及其家庭的新趋势纳入其中也有很大的空间。