Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

Giuseppe Boriani, Elena Biagini, Matteo Ziacchi, Vincenzo Livio Malavasi, Marco Vitolo, Marisa Talarico, Erminio Mauro, Giulia Gorlato, Giovanna Lattanzi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)442-459
Number of pages18
JournalNucleus (Austin, Tex.)
Volume9
Issue number1
DOIs
Publication statusPublished - 2018

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Cardiac Arrhythmias
Equipment and Supplies
Heart Failure
Bradycardia
Tachycardia
Lamin Type A
Sick Sinus Syndrome
Cardiac Resynchronization Therapy
Atrial Flutter
Defibrillators
Atrioventricular Block
Heart Transplantation
Creatine Kinase
Sudden Death
Atrial Fibrillation
Physical Examination
Heart Diseases
Electrocardiography
Stroke
Clinical Decision-Making

Keywords

  • Arrhythmia
  • Emerin
  • Emery-Dreifuss muscular dystrophy
  • Heart failure
  • Lamin A/C
  • Stroke
  • Sudden cardiac death
  • Thromboembolism

Cite this

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes. / Boriani, Giuseppe; Biagini, Elena; Ziacchi, Matteo; Malavasi, Vincenzo Livio; Vitolo, Marco; Talarico, Marisa; Mauro, Erminio; Gorlato, Giulia; Lattanzi, Giovanna.

In: Nucleus (Austin, Tex.), Vol. 9, No. 1, 2018, p. 442-459.

Research output: Contribution to journalArticle

Boriani, Giuseppe ; Biagini, Elena ; Ziacchi, Matteo ; Malavasi, Vincenzo Livio ; Vitolo, Marco ; Talarico, Marisa ; Mauro, Erminio ; Gorlato, Giulia ; Lattanzi, Giovanna. / Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes. In: Nucleus (Austin, Tex.). 2018 ; Vol. 9, No. 1. pp. 442-459.
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T1 - Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

AU - Boriani, Giuseppe

AU - Biagini, Elena

AU - Ziacchi, Matteo

AU - Malavasi, Vincenzo Livio

AU - Vitolo, Marco

AU - Talarico, Marisa

AU - Mauro, Erminio

AU - Gorlato, Giulia

AU - Lattanzi, Giovanna

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N2 - 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.

AB - 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.

KW - Arrhythmia

KW - Emerin

KW - Emery-Dreifuss muscular dystrophy

KW - Heart failure

KW - Lamin A/C

KW - Stroke

KW - Sudden cardiac death

KW - Thromboembolism

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VL - 9

SP - 442

EP - 459

JO - Nucleus

JF - Nucleus

SN - 0115-2300

IS - 1

ER -