Cardiac function evaluated with myocardial strain of the four cardiac chambers in adult patients with genetic familial hypercholesterolemia

Introduction

In adults with genetically confirmed familial hypercholesterolemia (FH), limited data are available regarding the impact of this metabolic disorder on cardiac function assessed by myocardial deformation analysis of the cardiac chambers.

Purpose

We hypothesized that patients with genetically confirmed FH exhibit a distinct cardiac morphological pattern compared with patients with dyslipidemia without FH.

Methods

In this prospective study, 102 patients matched for age and sex were enrolled: 34 patients with FH requiring lipoprotein-apheresis therapy (FH+ Aph+), 34 patients with FH without indication for apheresis (FH+ Aph-) and 34 patients with dyslipidaemia without FH (FH-). All participants underwent comprehensive clinical and biologic assessment as well as transthoracic echocardiography. Four-chamber myocardial strain analysis (left ventricle (LV), right ventricle (RV), left atrium (LA), and right atrium (RA)) was performed offline using dedicated software.

Results

The median age of the study population was 53 (37 – 60) years, and 60 patients (59%) were male. Among patients requiring apheresis (FH+ Aph+) 16 (47%) were homozygous and 18 (53%) were heterozygote; all patients in the group FH+ Aph- were heterozygote (n=34). History of coronary revascularization was significantly more frequent in the FH+ Aph+ group compared with the FH+ Aph− and FH- groups (22 [64.7%] vs. 4 [11.8%] and 7 [20.6%], respectively; p<0.001). No significant differences were observed among the three groups regarding hypertension, diabetes, or smoking status.

Patients with FH+ Aph+ exhibited significantly higher indexed left ventricular (LV) mass, larger left atrial (LA) volume, and higher E/e′ ratio. Conventional LV and right ventricular (RV) systolic function parameters did not differ significantly between groups (Table 1). However, the FH+ Aph+ group demonstrated significantly reduced LV and RV global longitudinal strain, as well as lower LA and right atrial (RA) reservoir strain, compared with the two other groups (Figure 1).

Conclusions

Patients with genetically confirmed FH requiring lipoprotein apheresis exhibit impaired myocardial deformation parameters compared with FH patients not requiring apheresis and dyslipidemic controls without FH. Whether this specific phenotype reflects a greater cumulative lifetime cholesterol burden warrants further investigation.Tableau 1