Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

被引：0

作者：

Barriales-Villa, Roberto ^{[1
,2
]}

Ochoa, Juan P. ^{[3
]}

Larranaga-Moreira, Jose M. ^{[1
]}

Salazar-Mendiguchia, Joel ^{[3
,4
,5
]}

Diez-Lopez, Carles ^{[6
]}

Alejandra Restrepo-Cordoba, Maria ^{[2
,7
,8
]}

Alvarez-Rubio, Jorge ^{[9
]}

Robles-Mezcua, Ainhoa ^{[2
,10
]}

Olmo-Conesa, Maria C. ^{[2
,8
,11
]}

Nicolas-Rocamora, Elisa ^{[2
,8
,11
]}

Sanz, Jorge ^{[12
]}

Villacorta, Eduardo ^{[13
]}

Gallego-Delgado, Maria ^{[13
]}

Yotti, Raquel ^{[2
,14
]}

Angeles Espinosa, Maria ^{[2
,14
]}

Manovel, Ana ^{[15
]}

Rincon-Diaz, Luis M. ^{[16
]}

Jimenez-Jaimez, Juan ^{[17
]}

Bermudez-Jimenez, Francisco J. ^{[17
]}

Teresa Basurte-Elorz, M. ^{[18
]}

Climent-Paya, Vicente ^{[19
]}

Garcia-Alvarez, Maria, I ^{[19
]}

Fernando Rodriguez-Palomares, Jose ^{[2
,20
]}

Limeres-Freire, Javier ^{[2
,20
]}

Perez-Guerrero, Ainhoa ^{[21
]}

Cantero-Perez, Eva M. ^{[22
,23
]}

Pena-Pena, Maria L. ^{[22
,23
]}

Palomino-Doza, Julian ^{[2
,24
]}

Crespo-Leiro, Maria G. ^{[1
,2
]}

Garcia-Pinilla, Jose M. ^{[2
,10
]}

Zorio, Esther ^{[2
,12
]}

Ripoll-Vera, Tomas ^{[9
]}

Garcia-Pavia, Pablo ^{[2
,7
,8
,25
]}

Ortiz-Genga, Martin ^{[3
]}

Monserrat, Lorenzo ^{[2
,3
]}

机构：

[1] Univ A Coruna, Inst Invest Biomed A Coruna INIBIC, Serv Galego Saude SERGAS, Unidad Cardiopatias Familiares,Serv Cardiol,Compl, La Coruna, Spain

[2] Ctr Invest Biomed Red Enfermedades Cardiovasc CIB, Madrid, Spain

[3] Hlth Code, Dept Cardiol, La Coruna, Spain

[4] Hosp Univ Bellvitge, Unidad Genet Clin & Biol Mol, Barcelona, Spain

[5] Univ Autonoma Barcelona, Dept Genet, Barcelona, Spain

[6] Hosp Univ Bellvitge, Serv Cardiol, Unidad Cardiopatias Familiares, Barcelona, Spain

[7] Hosp Univ Puerta Hierro, Serv Cardiol, Unidad Insuficiencia Cardiaca & Cardiopatias Fami, Madrid, Spain

[8] Red Europea Referencia Enfermedades Corazon Raras, Madrid, Spain

[9] Hosp Univ Son Llatzer, Serv Cardiol, Unidad Cardiopatias Familiares, Inst Invest Sanitaria Islas Baleares iDisBA, Palma De Mallorca, Islas Baleares, Spain

[10] Hosp Univ Virgen Victoria, Serv Cardiol, IBIMA, Unidad Insuficiencia Cardiaca & Cardiopatias Fami, Malaga, Spain

[11] Hosp Clin Univ Virgen Arrixaca, Serv Cardiol, Unidad Cardiopatias Familiares, Murcia, Spain

[12] Hosp Univ & Politecn La Fe, Serv Cardiol, Inst Invest Sanitaria La Fe, Unidad Cardiopatias Familiares Muerte Subita & Me, Valencia, Spain

[13] Univ Salamanca, Fac Med, Inst Invest Biomed Salamanca IBSAL, Unidad Cardiopatias Familiares,Serv Cardiol,Compl, Salamanca, Spain

[14] Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon, Serv Cardiol, Madrid, Spain

[15] Hosp Univ Juan Ramon Jimenez, Serv Cardiol, Unidad Hemodinam & Ecocardiog, Huelva, Spain

[16] Hosp Univ Ramon Y Cajal, Serv Cardiol, Madrid, Spain

[17] Hosp Univ Virgen Nieves, Inst Invest Biosanitaria Granada Ibs Granada, Serv Cardiol, Granada, Spain

[18] Complejo Hosp Navarra, Area Corazon, Navarra, Spain

[19] Hosp Univ Gen Alicante, Inst Invest Sanitaria & Biomed Alicante ISABIAL, Serv Cardiol, Alicante, Spain

[20] Univ Autonoma Barcelona, Vall dHebron Inst Recerca VHIR, Hosp Univ Vall dHebron, Unidad Cardiopatias Familiares,Serv Cardiol, Barcelona, Spain

[21] Hosp Univ Miguel Servet Zaragoza, Serv Cardiol, Zaragoza, Spain

[22] Hosp Univ Virgen Rocio, Serv Cardiol, Unidad Cardiopatias Familiares, Seville, Spain

[23] Hosp Univ Virgen Rocio, Serv Cardiol, Unidad Imagen, Seville, Spain

[24] Hosp Univ 12 Octubre, Serv Cardiol, Unidad Cardiopatias Familiares, Madrid, Spain

[25] Univ Francisco Vitoria UFV, Fac Med, Madrid, Spain

来源：

REVISTA ESPANOLA DE CARDIOLOGIA | 2021年 / 74卷 / 03期

关键词：

Genetics; Dilated cardiomyopathy; LMN; Sex; Missense; DILATED CARDIOMYOPATHY; VENTRICULAR-ARRHYTHMIAS; LAMIN; PREVENTION; GUIDELINES; MUTATIONS; CARRIERS;

D O I：

10.1016/j.recesp.2020.03.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 (C) 2020 Sociedad Espanola de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved.

引用

页码：216 / 224

页数：9

共 16 条

[1]

Al-Khatib SM, 2018, CIRCULATION, V138, pE210, DOI [10.1161/CIR.0000000000000548, 10.1161/CIR.0000000000000549]

[2] The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope [J].

Al-Saaidi, Rasha A. ;

Rasmussen, Torsten B. ;

Birkler, Rune I. D. ;

Palmfeldt, Johan ;

Beqqali, Abdelaziz ;

Pinto, Yigal M. ;

Nissen, Peter H. ;

Baandrup, Ulrik ;

Molgaard, Henning ;

Hey, Thomas M. ;

Eiskjaer, Hans ;

Bross, Peter ;

Mogensen, Jens .

EUROPEAN JOURNAL OF HEART FAILURE, 2018, 20 (10) :1404-1412

[3] Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease [J].

Arbustini, E ;

Pilotto, A ;

Repetto, A ;

Grasso, M ;

Negri, A ;

Diegoli, M ;

Campana, C ;

Scelsi, L ;

Baldini, E ;

Gavazzi, A ;

Tavazzi, L .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2002, 39 (06) :981-990

[4] Letter by Barriales-Villa et al Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies" [J].

Barriales-Villa, Roberto ;

Larranaga-Moreira, Jose M. ;

Ochoa, Juan P. .

CIRCULATION, 2019, 140 (23) :E818-E819

[5] Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature [J].

Captur, Gabriella ;

Arbustini, Eloise ;

Syrris, Petros ;

Radenkovic, Dina ;

O'Brien, Ben ;

Mckenna, William J. ;

Moon, James C. .

OPEN HEART, 2018, 5 (02)

[6] Lamin missense mutations-the spectrum of phenotype variability is increasing [J].

Captur, Gabriella ;

Bilinska, Zofia ;

Arbustini, Eloisa .

EUROPEAN JOURNAL OF HEART FAILURE, 2018, 20 (10) :1413-1416

[7] Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation [J].

Hoorntje, Edgar T. ;

Bollen, Ilse A. ;

Barge-Schaapveld, Daniela Q. ;

van Tienen, Florence H. ;

te Meerman, Gerard J. ;

Jansweijer, Joeri A. ;

van Essen, Anthonie J. ;

Volders, Paul G. ;

Constantinescu, Alina A. ;

van den Akker, Peter C. ;

van Spaendonck-Zwarts, Karin Y. ;

Oldenburg, Rogier A. ;

Marcelis, Carlo L. ;

van der Smagt, Jasper J. ;

Hennekam, Eric A. ;

Vink, Aryan ;

Bootsma, Marianne ;

Aten, Emmelien ;

Wilde, Arthur A. ;

van den Wijngaard, Arthur ;

Broers, Jos L. ;

Jongbloed, Jan D. ;

van der Velden, Jolanda ;

van den Berg, Maarten P. ;

van Tintelen, J. Peter .

CIRCULATION-CARDIOVASCULAR GENETICS, 2017, 10 (04)

[8] Primary prevention of sudden death in patients with lamin A/C gene mutations [J].

Meune, C ;

Van Berlo, JH ;

Anselme, F ;

Bonne, G ;

Pinto, YM ;

Duboc, D .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (02) :209-210

[9] 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death [J].

Priori, Silvia G. ;

Blomstrom-Lundqvist, Carina ;

Mazzanti, Andrea ;

Blom, Nico ;

Borggrefe, Martin ;

Camm, John ;

Elliott, Perry Mark ;

Fitzsimons, Donna ;

Hatala, Robert ;

Hindricks, Gerhard ;

Kirchhof, Paulus ;

Kjeldsen, Keld ;

Kuck, Karl-Heinz ;

Hernandez-Madrid, Antonio ;

Nikolaou, Nikolaos ;

Norekval, Tone M. ;

Spaulding, Christian ;

Van Veldhuisen, Dirk J. .

EUROPACE, 2015, 17 (11) :1601-1687

[10] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J].

Richards, Sue ;

Aziz, Nazneen ;

Bale, Sherri ;

Bick, David ;

Das, Soma ;

Gastier-Foster, Julie ;

Grody, Wayne W. ;

Hegde, Madhuri ;

Lyon, Elaine ;

Spector, Elaine ;

Voelkerding, Karl ;

Rehm, Heidi L. .

GENETICS IN MEDICINE, 2015, 17 (05) :405-424

← 1 2 →