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Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes
Nucleus ( IF 3.7 ) Pub Date : 2018-10-18 , DOI: 10.1080/19491034.2018.1506680
Giuseppe Boriani 1 , Elena Biagini 2 , Matteo Ziacchi 2 , Vincenzo Livio Malavasi 1 , Marco Vitolo 1 , Marisa Talarico 1 , Erminio Mauro 1 , Giulia Gorlato 1 , Giovanna Lattanzi 3, 4
Affiliation  

ABSTRACT Lamin A/C gene mutations can be associated with cardiac diseases, usually referred to as ‘cardiolaminopathies’ characterized by arrhythmic disorders and/or left ventricular or biventricular dysfunction up to an overt picture of heart failure. The phenotypic cardiac manifestations of laminopathies are frequently mixed in complex clinical patterns and specifically may include bradyarrhythmias (sinus node disease or atrioventricular blocks), atrial arrhythmias (atrial fibrillation, atrial flutter, atrial standstill), ventricular tachyarrhythmias and heart failure of variable degrees of severity. Family history, physical examination, laboratory findings (specifically serum creatine phosphokinase values) and ECG findings are often important ‘red flags’ in diagnosing a ‘cardiolaminopathy’. Sudden arrhythmic death, thromboembolic events or stroke and severe heart failure requiring heart transplantation are the most dramatic complications of the evolution of cardiolaminopathies and appropriate risk stratification is clinically needed combined with clinical follow-up. Treatment with cardiac electrical implantable devices is indicated in case of bradyarrhythmias (implant of a device with pacemaker functions), risk of life-threatening ventricular tachyarrhythmias (implant of an ICD) or in case of heart failure with wide QRS interval (implant of a device for cardiac resynchronization). New technologies introduced in the last 5 years can help physicians to reduce device-related complications, thanks to the extension of device longevity and availability of leadless pacemakers or defibrillators, to be implanted in appropriately selected patients. An improved knowledge of the complex pathophysiological pathways involved in cardiolaminopathies and in the determinants of their progression to more severe forms will help to improve clinical management and to better target pharmacological and non-pharmacological treatments.

中文翻译:

从工作台到床边的心肌病:关注心律失常相关结果的临床决策挑战

摘要 Lamin A/C 基因突变可能与心脏疾病有关,通常被称为“心肌病”,其特征是心律失常和/或左心室或双心室功能障碍,直至出现明显的心力衰竭。椎板病的表型心脏表现经常在复杂的临床模式中混合,特别是可能包括缓慢性心律失常(窦房结疾病或房室传导阻滞)、房性心律失常(心房颤动、心房扑动、心房停顿)、室性快速性心律失常和不同严重程度的心力衰竭. 家族史、体格检查、实验室检查结果(特别是血清肌酸磷酸激酶值)和心电图检查结果通常是诊断“心肌病”的重要“危险信号”。突然心律失常死亡,血栓栓塞事件或中风和需要心脏移植的严重心力衰竭是心肌病演变过程中最显着的并发症,临床上需要结合临床随访进行适当的风险分层。如果出现缓慢性心律失常(植入具有起搏器功能的设备)、危及生命的室性快速性心律失常风险(植入 ICD)或出现宽 QRS 间期心力衰竭(植入设备),则需要使用植入式心脏电设备进行治疗。用于心脏再同步)。New technologies introduced in the last 5 years can help physicians to reduce device-related complications, thanks to the extension of device longevity and availability of leadless pacemakers or defibrillators, to be implanted in appropriately selected patients.
更新日期:2018-10-18
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