Prediction and prognostic role of left ventricular systolic dysfunction in family screening for dilated cardiomyopathy and non-dilated left ventricular cardiomyopathy

被引：0

作者：

Del Mestre, Eva ^{[1
,2
]}

Paldino, Alessia ^{[1
,2
]}

Gava, Carola Pio Loco Detto ^{[1
,2
]}

Gandin, Ilaria ^{[3
]}

Gigli, Marta ^{[1
,2
]}

Stolfo, Davide ^{[1
,2
]}

Setti, Martina ^{[4
]}

Severini, Giovanni Maria ^{[5
]}

Spedicati, Beatrice ^{[5
]}

Lenarduzzi, Stefania ^{[5
]}

Girotto, Giorgia ^{[5
,6
]}

Folgheraiter, Alessandro ^{[1
,2
]}

Rizzi, Jacopo Giulio ^{[1
,2
]}

Korcova, Renata ^{[1
,2
]}

Mestroni, Luisa ^{[7
]}

Merlo, Marco ^{[1
,2
,6
]}

Dal Ferro, Matteo ^{[1
,2
]}

Sinagra, Gianfranco ^{[1
,2
,6
]}

机构：

[1] Univ Trieste, Azienda Sanitaria Univ Giuliano Isontina ASUGI, Cardiovasc Dept, Trieste, Italy

[2] European Reference Network Rare Lowprevalence Comp, Amsterdam, Netherlands

[3] Univ Trieste, Dept Med Surg & Hlth Sci, Biostat Unit, Trieste, Italy

[4] Univ Hosp Verona, Dept Cardiol, Cardiothorac Dept, Verona, Italy

[5] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Trieste, Italy

[6] Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy

[7] Univ Colorado Anschutz Med Campus, Cardiovasc Inst, Mol Genet, Aurora, CO USA

来源：

EUROPEAN JOURNAL OF HEART FAILURE | 2025年

关键词：

Family screening; Relatives; Genetics; Dilated cardiomyopathy; Non-dilated left ventricular cardiomyopathy; POSITION STATEMENT; WORKING GROUP;

D O I：

10.1002/ejhf.3657

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Aims The prognostic significance of detecting left ventricular (LV) systolic dysfunction during family screening programmes (FSPs) in relatives of probands affected by dilated (DCM) and non-dilated left ventricular (NDLVC) cardiomyopathies remain unclear. This study sought to evaluate the prognostic role of LV systolic dysfunction detection in relatives of DCM/NDLVC probands and to define the most accurate FSP. Methods and results Baseline and follow-up data of first-degree relatives of probands affected by DCM/NDLVC were collected. The primary outcome was all-cause death and heart transplantation. Secondary heart failure (HF) and arrhythmic outcomes were also included. A total of 492 first degree relatives were enrolled. During a median follow-up of 110 months (interquartile range 57-188 months), only subjects that previously developed LV systolic dysfunction had primary outcomes (19 vs. 0, p < 0.001) and secondary outcomes (HF: 12 vs. 0, p = 0.005; arrhythmic: 30 vs. 0, p < 0.001). Subjects with LV systolic dysfunction detected by FSP showed lower rate of primary outcomes (FSP: n = 19 [14%]; no-FSP: n = 40 [37%]; p < 0.001) and secondary arrhythmic outcomes (FSP: n = 18 [13%]; no-FSP: n = 41 [38%]; p < 0.001). In this setting, family history of arrhythmia and being carrier of a pathogenic/likely pathogenic variant are the main risk factors for LV systolic dysfunction, while LV global longitudinal strain (LV-GLS) and Holter electrocardiogram (ECG) showed a relevant role in terms of prediction of LV systolic dysfunction and outcomes. Conclusion Relatives of DCM/NDLVC probands who developed LV systolic dysfunction during a long follow-up had a significant increased risk of major adverse cardiovascular outcomes. However, LV systolic dysfunction detected by FSP showed a better prognosis. In this context, genetics, Holter ECG and LV-GLS demonstrated their functional role for disease and event prediction.

引用

页数：9

共 22 条

[1] 2023 ESC Guidelines for the management of cardiomyopathies Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC) [J].

Arbelo, Elena ;

Protonotarios, Alexandros ;

Gimeno, Juan R. ;

Arbustini, Eloisa ;

Barriales-Villa, Roberto ;

Basso, Cristina ;

Bezzina, Connie R. ;

Biagini, Elena ;

Blom, Nico A. ;

de Boer, Rudolf A. ;

De Winter, Tim ;

Elliott, Perry M. ;

Flather, Marcus ;

Garcia-Pavia, Pablo ;

Haugaa, Kristina H. ;

Ingles, Jodie ;

Jurcut, Ruxandra Oana ;

Klaassen, Sabine ;

Limongelli, Giuseppe ;

Loeys, Bart ;

Mogensen, Jens ;

Olivotto, Iacopo ;

Pantazis, Antonis ;

Sharma, Sanjay ;

Van Tintelen, J. Peter ;

Ware, James S. ;

Kaski, Juan Pablo .

EUROPEAN HEART JOURNAL, 2023, 44 (37) :3503-3626

[2] Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives [J].

Cabrera-Romero, Eva ;

Ochoa, Juan Pablo ;

Barriales-Villa, Roberto ;

Bermudez-Jimenez, Francisco Jose ;

Climent-Paya, Vicente ;

Zorio, Esther ;

Espinosa, Maria Angeles ;

Gallego-Delgado, Maria ;

Navarro-Penalver, Marina ;

Arana-Achaga, Xabier ;

Piqueras-Flores, Jesus ;

Espejo-Bares, Victoria ;

Rodriguez-Palomares, Jose F. ;

Lacuey-Lecumberri, Gemma ;

Lopez, Javier ;

Tiron, Coloma ;

Pena-Pena, Maria Luisa ;

Garcia-Pinilla, Jose M. ;

Lorca, Rebeca ;

Ripoll-Vera, Tomas ;

Diez-Lopez, Carles ;

Mogollon, Maria Victoria ;

Garcia-Alvarez, Ana ;

Martinez-Dolz, Luis ;

Brion, Maria ;

Larranaga-Moreira, Jose Maria ;

Jimenez-Jaimez, Juan ;

Garcia-Alvarez, Maria Isabel ;

Vilches, Silvia ;

Villacorta, Eduardo ;

Sabater-Molina, Maria ;

Solla-Ruiz, Itziar ;

Royuela, Ana ;

Dominguez, Fernando ;

Mirelis, Jesus G. ;

Garcia-Pavia, Pablo .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2024, 83 (17) :1640-1651

[3] Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases [J].

Elliott, Perry ;

Andersson, Bert ;

Arbustini, Eloisa ;

Bilinska, Zofia ;

Cecchi, Franco ;

Charron, Philippe ;

Dubourg, Olivier ;

Hl, Uwe Ku R. ;

Maisch, Bernhard ;

McKenna, William J. ;

Monserrat, Lorenzo ;

Pankuweit, Sabine ;

Rapezzi, Claudio ;

Seferovic, Petar ;

Tavazzi, Luigi ;

Keren, Andre .

EUROPEAN HEART JOURNAL, 2008, 29 (02) :270-276

[4] Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants [J].

Gigli, Marta ;

Stolfo, Davide ;

Graw, Sharon L. ;

Merlo, Marco ;

Gregorio, Caterina ;

Chen, Suet Nee ;

Dal Ferro, Matteo ;

PaldinoMD, Alessia ;

De Angelis, Giulia ;

Brun, Francesca ;

Jirikowic, Jean ;

Salcedo, Ernesto E. ;

Turja, Sylvia ;

Fatkin, Diane ;

Johnson, Renee ;

van Tintelen, J. Peter ;

Te Riele, Anneline S. J. M. ;

Wilde, Arthur A. M. ;

Lakdawala, Neal K. ;

Picard, Kermshlise ;

Miani, Daniela ;

Muser, Daniele ;

Severini, Giovanni Maria ;

Calkins, Hugh ;

James, Cynthia A. ;

Murray, Brittney ;

Tichnell, Crystal ;

Parikh, Victoria N. ;

Ashley, Euan A. ;

Reuter, Chloe ;

Song, Jiangping ;

Judge, Daniel P. ;

McKenna, William J. ;

Taylor, Matthew R. G. ;

Sinagra, Gianfranco ;

Mestroni, Luisa .

CIRCULATION, 2021, 144 (20) :1600-1611

[5] Sex- and age-based differences in the natural history and outcome of dilated cardiomyopathy [J].

Halliday, Brian P. ;

Gulati, Ankur ;

Ali, Aamir ;

Newsome, Simon ;

Lota, Amrit ;

Tayal, Upasana ;

Vassiliou, Vassilios S. ;

Arzanauskaite, Monika ;

Izgi, Cemil ;

Krishnathasan, Kaushiga ;

Singhal, Arvind ;

Chiew, Kayla ;

Gregson, John ;

Frenneaux, Michael P. ;

Cook, Stuart A. ;

Pennell, Dudley J. ;

Collins, Peter ;

Cleland, John G. F. ;

Prasad, Sanjay K. .

EUROPEAN JOURNAL OF HEART FAILURE, 2018, 20 (10) :1392-1400

[6] Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline [J].

Hershberger, Ray E. ;

Givertz, Michael M. ;

Ho, Carolyn Y. ;

Judge, Daniel P. ;

Kantor, Paul F. ;

Mcbride, Kim L. ;

Morales, Ana ;

Taylor, Matthew R. G. ;

Vatta, Matteo ;

Ware, Stephanie M. .

JOURNAL OF CARDIAC FAILURE, 2018, 24 (05) :281-302

[7]

Johnson R, 2019, HEART LUNG CIRC, V28, pS140, DOI [10.1016/j.hlc.2019.06.019, 10.1016/j.hlc.2019.06.019, DOI 10.1016/J.HLC.2019.06.019]

[8] Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial [J].

Kinnamon, Daniel ;

Jordan, Elizabeth J. ;

Haas, Garrie ;

Hofmeyer, Mark ;

Kransdorf, Evan A. ;

Ewald, Gregory A. ;

Morris, Alanna ;

Owens, Anjali ;

Lowes, Brian ;

Stoller, Douglas ;

Tang, W. H. Wilson ;

Garg, Sonia H. ;

Trachtenberg, Barry ;

Shah, Palak V. ;

Pamboukian, Salpy K. ;

Sweitzer, Nancy T. ;

Wheeler, Matthew E. ;

Wilcox, Jane ;

Katz, Stuart ;

Pan, Stephen ;

Jimenez, Javier D. ;

Aaronson, Keith P. ;

Fishbein, Daniel ;

Smart, Frank ;

Wang, Jessica S. ;

Gottlieb, Stephen P. ;

Judge, Daniel K. ;

Moore, Charles O. ;

Mead, Jonathan S. ;

Huggins, Gordon ;

Ni, Hanyu ;

Burke, Wylie E. ;

Hershberger, Ray ;

DCM Consortium .

CIRCULATION, 2023, 147 (17) :1281-1290

[9] Arrhythmias as Presentation of Genetic Cardiomyopathy [J].

Laws, J. Lukas ;

Lancaster, Megan C. ;

Ben Shoemaker, M. ;

Stevenson, William G. ;

Hung, Rebecca R. ;

Wells, Quinn ;

Brinkley, D. Marshall ;

Hughes, Sean ;

Anderson, Katherine ;

Roden, Dan ;

Stevenson, Lynne W. .

CIRCULATION RESEARCH, 2022, 130 (11) :1698-1722

[10] Contemporary survival trends and aetiological characterization in non-ischaemic dilated cardiomyopathy [J].

Merlo, Marco ;

Cannata, Antonio ;

Loco, Carola Pio ;

Stolfo, Davide ;

Barbati, Giulia ;

Artico, Jessica ;

Gentile, Piero ;

De Paris, Valerio ;

Ramani, Federica ;

Zecchin, Massimo ;

Gigli, Marta ;

Pinamonti, Bruno ;

Korcova, Renata ;

Di Lenarda, Andrea ;

Giacca, Mauro ;

Mestroni, Luisa ;

Camici, Paolo G. ;

Sinagra, Gianfranco .

EUROPEAN JOURNAL OF HEART FAILURE, 2020, 22 (07) :1111-1121

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