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Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related
Giuseppe Boriani1, Elena Biagini2, Matteo Ziacchi2
1a Cardiology Division, Department of Biomedical, Metabolic and Neural Sciences , University of Modena and Reggio Emilia, Policlinico di Modena , Modena , Italy.
Insights
Lamin A/C gene mutations cause cardiolaminopathies, leading to heart failure and arrhythmias. Early diagnosis through clinical signs and advanced treatments like implantable devices are crucial for managing these complex cardiac conditions.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Mutations in the Lamin A/C gene are linked to a spectrum of cardiac diseases known as cardiolaminopathies.
- These conditions manifest as arrhythmias and/or left ventricular or biventricular dysfunction, potentially progressing to heart failure.
Purpose of the Study:
- To review the clinical manifestations, diagnostic 'red flags', complications, and current management strategies for cardiolaminopathies.
- To highlight the role of implantable cardiac electronic devices and emerging technologies in treating these conditions.
Main Methods:
- Review of clinical presentations including bradyarrhythmias, atrial arrhythmias, and ventricular tachyarrhythmias.
- Identification of diagnostic indicators such as family history, physical examination, creatine phosphokinase levels, and ECG findings.
- Discussion of treatment strategies involving cardiac electrical implantable devices (pacemakers, ICDs, CRT) and risk stratification.
Main Results:
- Cardiolaminopathies present with complex and mixed cardiac phenotypes.
- Early identification of 'red flags' is vital for timely diagnosis.
- Implantable devices are indicated for specific arrhythmias and heart failure symptoms.
- Recent technological advancements aim to improve device longevity and reduce complications.
Conclusions:
- Improved understanding of cardiolaminopathy pathophysiology is essential for refining clinical management.
- Targeted pharmacological and non-pharmacological treatments are needed to improve patient outcomes.
- Risk stratification and appropriate follow-up are critical for managing the severe complications of cardiolaminopathies.
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.
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