Del Mestre Eva, Paldino Alessia, Pio Loco Detto Gava Carola, Gandin Ilaria, Gigli Marta, Stolfo Davide, Setti Martina, Severini Giovanni Maria, Spedicati Beatrice, Lenarduzzi Stefania, Girotto Giorgia, Folgheraiter Alessandro, Rizzi Jacopo Giulio, Korcova Renata, Mestroni Luisa, Merlo Marco, Dal Ferro Matteo, Sinagra Gianfranco
Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy.
European Reference Network for rare, low-prevalence, or complex diseases of the Heart (ERN GUARD-Heart).
Eur J Heart Fail. 2025 Apr 13. doi: 10.1002/ejhf.3657.
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.
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.
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.
在先证者患有扩张型心肌病（DCM）和非扩张型左心室心肌病（NDLVC）的亲属的家庭筛查项目（FSP）中，检测左心室（LV）收缩功能障碍的预后意义仍不明确。本研究旨在评估LV收缩功能障碍检测在先证者为DCM/NDLVC的亲属中的预后作用，并确定最准确的FSP。
收集了先证者为DCM/NDLVC的一级亲属的基线和随访数据。主要结局为全因死亡和心脏移植。还纳入了继发性心力衰竭（HF）和心律失常结局。共纳入492名一级亲属。在中位随访110个月（四分位间距57 - 188个月）期间，只有先前出现LV收缩功能障碍的受试者出现了主要结局（19例对0例，p < 0.001）和次要结局（HF：12例对0例，p = 0.005；心律失常：30例对0例，p < 0.001）。通过FSP检测出LV收缩功能障碍的受试者主要结局发生率较低（FSP组：n = 19 [14%]；非FSP组：n = 40 [37%]；p < 0.001），继发性心律失常结局发生率也较低（FSP组：n = 18 [13%]；非FSP组：n = 41 [38%]；p < 0.001）。在这种情况下，心律失常家族史和作为致病/可能致病变异的携带者是LV收缩功能障碍的主要危险因素，而左心室整体纵向应变（LV - GLS）和动态心电图（ECG）在预测LV收缩功能障碍和结局方面显示出重要作用。
在先证者为DCM/NDLVC的亲属中，在长期随访期间出现LV收缩功能障碍的患者发生重大不良心血管结局的风险显著增加。然而，通过FSP检测出的LV收缩功能障碍预后较好。在此背景下，遗传学、动态心电图和LV - GLS证明了它们在疾病和事件预测中的功能作用。
