先进的心脏磁共振成像（CMR）特征在识别肥厚型心肌病阳性基因型中的作用

Role of advanced CMR features in identifying a positive genotype of hypertrophic cardiomyopathy.

作者信息

Mushtaq Saima, Chiesa Mattia, Novelli Valeria, Sommariva Elena, Biondi Maria Luisa, Manzoni Martina, Florio Alessio, Lampus Maria Luisa, Avallone Carlo, Zocchi Chiara, Ianniruberto Monica, Zannoni Jessica, Nudi Alessandro, Arcudi Alessandra, Annoni Andrea, Baggiano Andrea, Berna Giovanni, Carerj Maria Ludovica, Cannata Francesco, Celeste Fabrizio, Del Torto Alberico, Fazzari Fabio, Formenti Alberto, Frappampina Antonio, Fusini Laura, Ali Sarah Ghulam, Gripari Paola, Pizzamiglio Francesca, Ribatti Valentina, Junod Daniele, Maltagliati Anna, Mancini Maria Elisabetta, Mantegazza Valentina, Maragna Riccardo, Marchetti Francesca, Muratori Manuela, Sbordone Francesco Paolo, Tassetti Luigi, Volpe Alessandra, Saba Luca, Autore Camillo, Olivotto Iacopo, Guaricci Andrea Igoren, Andreini Daniele, Pontone Gianluca

机构信息

Centro Cardiologico Monzino IRCCS, Milan, Italy.

Cardiology Unit, Azienda Ospedaliero Universitaria of Ferrara, Ferrara, Italy.

出版信息

Int J Cardiol. 2024 Dec 15;417:132554. doi: 10.1016/j.ijcard.2024.132554. Epub 2024 Sep 11.

DOI:10.1016/j.ijcard.2024.132554

PMID:39270939

Abstract

BACKGROUND

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. Cardiac magnetic resonance (CMR) imaging has emerged as a powerful tool for the non-invasive assessment of HCM. CMR can accurately quantify the extent and distribution of hypertrophy, assess the presence and severity of myocardial fibrosis, and detect associated abnormalities. We will study basic and advanced features of CMR in 2 groups of HCM patients with negative and positive genotype, respectively.

MATERIALS AND METHODS

The study population consisted in consecutive HCM patients referred to Centro Cardiologico Monzino who performed both CMR and genetic testing. Clinical CMR images were acquired at 1.5 T Discovery MR450 scanner (GE Healthcare, Milwaukee, Wisconsin)) using standardized protocols T1 mapping, T2 mapping and late gadolinium enhancement (LGE). Population was divided in 2 groups: group 1 with HCM patients with a negative genotype and group 2 with a positive genotype.

RESULTS

The analytic population consisted of 110 patients: 75 in group 1 and 35 patients in group 2. At CMR evaluation, patients with a positive genotype had higher LV mass (136 vs. 116 g, p = 0.02), LV thickness (17.5 vs. 16.9 mm), right ventricle ejection fraction (63 % vs. 58 %, p = 0.002). Regarding the LGE patients with positive genotype have a higher absolute (33.8 vs 16.7 g, p = 0.0003) and relative LGE mass (31.6 % vs 14.6 %, p = 0.0007). On a segmental analysis all the septum (segments 2, 8, 9, and 14) had a significantly increased native T1 compared to others segments. ECV in the mid antero and infero-septum (segments 8 and 9) have lower values in positive genotype HCM. Interestingly the mean T2 was lower in positive genotype HCM as compared to negative genotype HCM (50,1 ms vs 52,4).

CONCLUSIONS

Our paper identifies the mid septum (segments 8 and 9) as a key to diagnose a positive genotype HCM.

摘要

背景

肥厚型心肌病（HCM）是最常见的遗传性心血管疾病，约每500人中就有1人患病。心脏磁共振成像（CMR）已成为一种用于HCM无创评估的强大工具。CMR能够准确量化肥厚的程度和分布，评估心肌纤维化的存在和严重程度，并检测相关异常情况。我们将分别研究两组基因型为阴性和阳性的HCM患者的CMR基本特征和高级特征。

材料与方法

研究人群包括连续转诊至蒙齐诺心脏病中心且接受了CMR和基因检测的HCM患者。使用标准化方案T1映射、T2映射和延迟钆增强（LGE），在1.5T Discovery MR450扫描仪（通用电气医疗集团，威斯康星州密尔沃基）上采集临床CMR图像。将人群分为两组：第1组为基因型阴性的HCM患者，第2组为基因型阳性的患者。

结果

分析人群包括110例患者：第1组75例，第2组35例。在CMR评估中，基因型阳性的患者左心室质量更高（136 vs. 116g，p = 0.02），左心室厚度更大（17.5 vs. 16.9mm），右心室射血分数更高（63% vs. 58%，p = 0.002）。关于LGE，基因型阳性的患者绝对LGE质量更高（33.8 vs 16.7g，p = 0.0003），相对LGE质量更高（31.6% vs 14.6%，p = 0.0007）。在节段分析中，与其他节段相比，所有室间隔节段（节段2、8、9和14）的固有T1均显著增加。基因型阳性的HCM患者前间隔和下间隔中部（节段8和9）的细胞外容积（ECV）值较低。有趣的是，与基因型阴性的HCM患者相比，基因型阳性的HCM患者平均T2更低（50.1ms vs 52.4ms）。