超罕见遗传性心律失常综合征的管理。

IF 5.6 2区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

Heart rhythm Pub Date : 2025-03-01 DOI:10.1016/j.hrthm.2024.08.023

Thomas M. Roston MD, PhD , Vassilios J. Bezzerides MD, PhD , Jason D. Roberts MAS, MD , Dominic J. Abrams MBBS, MD, MBA

{"title":"超罕见遗传性心律失常综合征的管理。","authors":"Thomas M. Roston MD, PhD , Vassilios J. Bezzerides MD, PhD , Jason D. Roberts MAS, MD , Dominic J. Abrams MBBS, MD, MBA","doi":"10.1016/j.hrthm.2024.08.023","DOIUrl":null,"url":null,"abstract":"<div><div>Ultrarare inherited arrhythmia syndromes are increasingly diagnosed as a result of increased awareness as well as increased availability and reduced cost of genetic testing. Yet by definition, their rarity and heterogeneous expression make development of evidence-based management strategies more challenging, typically employing strategies garnered from similar genetic cardiac disorders. For the most part, reliance on anecdotal experiences, expert opinion, and small retrospective cohort studies is the only means to diagnose and to treat these patients. Here we review the management of specific ultrarare inherited arrhythmic syndromes together with the genetic and molecular basis, which will become increasingly important with the development of targeted therapies to correct the biologic basis of these disorders.</div></div>","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 832-843"},"PeriodicalIF":5.6000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Management of ultrarare inherited arrhythmia syndromes\",\"authors\":\"Thomas M. Roston MD, PhD , Vassilios J. Bezzerides MD, PhD , Jason D. Roberts MAS, MD , Dominic J. Abrams MBBS, MD, MBA\",\"doi\":\"10.1016/j.hrthm.2024.08.023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Ultrarare inherited arrhythmia syndromes are increasingly diagnosed as a result of increased awareness as well as increased availability and reduced cost of genetic testing. Yet by definition, their rarity and heterogeneous expression make development of evidence-based management strategies more challenging, typically employing strategies garnered from similar genetic cardiac disorders. For the most part, reliance on anecdotal experiences, expert opinion, and small retrospective cohort studies is the only means to diagnose and to treat these patients. Here we review the management of specific ultrarare inherited arrhythmic syndromes together with the genetic and molecular basis, which will become increasingly important with the development of targeted therapies to correct the biologic basis of these disorders.</div></div>\",\"PeriodicalId\":12886,\"journal\":{\"name\":\"Heart rhythm\",\"volume\":\"22 3\",\"pages\":\"Pages 832-843\"},\"PeriodicalIF\":5.6000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Heart rhythm\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1547527124031424\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Heart rhythm","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1547527124031424","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}

引用次数: 0

摘要

由于人们对超常遗传性心律失常综合征认识的提高以及基因检测的普及和成本的降低，越来越多的超常遗传性心律失常综合征被诊断出来。然而，顾名思义，其罕见性和异质性表现使得循证管理策略的制定更具挑战性，通常采用类似遗传性心脏疾病的策略。在大多数情况下，依靠轶事经验、专家意见和小型回顾性队列研究是诊断和治疗这些患者的唯一手段。在此，我们将结合遗传和分子基础回顾特定超常遗传性心律失常综合征的治疗方法，随着纠正这些疾病生物学基础的靶向疗法的发展，这一点将变得越来越重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Management of ultrarare inherited arrhythmia syndromes

查看原文本刊更多论文

Management of ultrarare inherited arrhythmia syndromes

Ultrarare inherited arrhythmia syndromes are increasingly diagnosed as a result of increased awareness as well as increased availability and reduced cost of genetic testing. Yet by definition, their rarity and heterogeneous expression make development of evidence-based management strategies more challenging, typically employing strategies garnered from similar genetic cardiac disorders. For the most part, reliance on anecdotal experiences, expert opinion, and small retrospective cohort studies is the only means to diagnose and to treat these patients. Here we review the management of specific ultrarare inherited arrhythmic syndromes together with the genetic and molecular basis, which will become increasingly important with the development of targeted therapies to correct the biologic basis of these disorders.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Heart rhythm 医学-心血管系统

CiteScore

10.50

自引率

5.50%

发文量

1465

审稿时长

24 days

期刊介绍： HeartRhythm, the official Journal of the Heart Rhythm Society and the Cardiac Electrophysiology Society, is a unique journal for fundamental discovery and clinical applicability. HeartRhythm integrates the entire cardiac electrophysiology (EP) community from basic and clinical academic researchers, private practitioners, engineers, allied professionals, industry, and trainees, all of whom are vital and interdependent members of our EP community. The Heart Rhythm Society is the international leader in science, education, and advocacy for cardiac arrhythmia professionals and patients, and the primary information resource on heart rhythm disorders. Its mission is to improve the care of patients by promoting research, education, and optimal health care policies and standards.