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Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry
Roberto Barriales-Villa1, Juan P Ochoa2, José M Larrañaga-Moreira3
1Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Biomédica de A Coruña (INIBIC), Universidade da Coruña, A Coruña, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
Insights
In LMNA-related dilated cardiomyopathy, left ventricular ejection fraction <45% and nonsustained ventricular tachycardia are key predictors of major arrhythmic events. Risk stratification requires individual assessment, especially for female carriers of missense variants.
Area of Science:
- Cardiology
- Genetics
- Sudden Cardiac Death
Background:
- LMNA gene variants are linked to dilated cardiomyopathy (DCM) and increased risk of sudden cardiac death.
- Current guidelines suggest implantable cardioverter-defibrillators (ICDs) for DCM patients with specific risk factors.
- The REDLAMINA registry provides a cohort for evaluating these risk factors in LMNA variant carriers.
Purpose of the Study:
- To characterize clinical features of LMNA variant carriers in a Spanish cohort.
- To assess the predictive value of established risk criteria for cardiovascular events.
- To refine risk stratification strategies for LMNA-related DCM.
Main Methods:
- A cohort of 140 carriers (≥ 16 years) of pathogenic LMNA variants was analyzed.
- Major arrhythmic events (MAE) included appropriate ICD discharge or sudden cardiac death.
- Heart failure death was defined as death due to heart failure or heart transplant.
Main Results:
- Left ventricular ejection fraction (LVEF) <45% and nonsustained ventricular tachycardia (NSVT) were significantly associated with MAE.
- Male sex and the type of genetic variant (missense vs. non-missense) did not independently predict MAE.
- LVEF <45% was the sole independent predictor of heart failure death.
Conclusions:
- NSVT and LVEF <45% are the primary independent predictors of MAE in the REDLAMINA cohort.
- Female carriers with missense variants and either NSVT or LVEF <45% are not a low-risk group.
- Individualized risk assessment is crucial for LMNA missense variant carriers due to variable prognoses.
Introduction And Objectives:
According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ≥ 2 risk factors: male sex, left ventricular ejection fraction (LVEF) <45%, nonsustained ventricular tachycardia (NSVT), and nonmissense genetic variants. In this study we aimed to describe the clinical characteristics of carriers of LMNA genetic variants among individuals from a Spanish cardiac-laminopathies cohort (REDLAMINA registry) and to assess previously reported risk criteria.
Methods:
The relationship between risk factors and cardiovascular events was evaluated in a cohort of 140 carriers (age ≥ 16 years) of pathogenic LMNA variants (54 probands, 86 relatives). We considered: a) major arrhythmic events (MAE) if there was appropriate ICD discharge or sudden cardiac death; b) heart failure death if there was heart transplant or death due to heart failure.
Results:
We identified 11 novel and 21 previously reported LMNA-related DCM variants. LVEF <45% (P=.001) and NSVT (P <.001) were related to MAE, but not sex or type of genetic variant. The only factor independently related to heart failure death was LVEF <45% (P <.001).
Conclusions:
In the REDLAMINA registry cohort, the only predictors independently associated with MAE were NSVT and LVEF <45%. Therefore, female carriers of missense variants with either NSVT or LVEF <45% should not be considered a low-risk group. It is important to individualize risk stratification in carriers of LMNA missense variants, because not all have the same prognosis.
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