Abstract
ObjectivesTo evaluate systolic cardiac dysfunction in paediatric MFS patients with chest wall deformity using cardiac magnetic resonance (CMR) imaging and feature-tracking strain analysis.MethodsForty paediatric MFS patients (16 ± 3 years, range 8−22 years) and 20 age-matched healthy controls (16 ± 4 years, range 11−24 years) were evaluated retrospectively. Biventricular function and volumes were determined using cine sequences. Feature-tracking CMR was used to assess global systolic longitudinal (GLS), circumferential (GCS) and radial strain (GRS). A dedicated balanced turbo field echo sequence was used to quantify chest wall deformity by measuring the Haller index (HI).ResultsLV volumes and ejection fraction (EF) were similar in MFS patients and controls. There was a trend for lower right ventricular (RV) volume (75 ± 17 vs. 81 ± 10 ml/m2, p = 0.08), RV stroke volume (41 ± 12 vs. 50 ± 5 ml/m2, p < 0.001) and RVEF (55 ± 10 vs. 62 ± 6%, p < 0.01) in MFS patients. A subgroup of MFS patients had an increased HI compared to controls (4.6 ± 1.7 vs. 2.6 ± 0.3, p < 0.001). They demonstrated a reduced RVEF compared to MFS patients without chest wall deformity (50 ± 11% vs. 58 ± 8%, p = 0.01) and controls (p < 0.001). LV GLS was attenuated when HI ≥ 3.25 (- 16 ± 2 vs. - 18 ± 3%, p = 0.03), but not GCS and GRS. LV GLS (p < 0.01) and GCS (p < 0.0001) were attenuated in MFS patients compared to controls, but not GRS (p = 0.31). RV GLS was attenuated in MFS patients compared to controls (- 21 ± 3 vs. - 23 ± 3%, p < 0.05).ConclusionChest wall deformity in paediatric MFS patients is associated with reduced RV volume, ejection fraction and GLS. Feature-tracking CMR also indicates impairment of systolic LV function in paediatric MFS patients.Key Points• Paediatric Marfan patients demonstrate reduced RV volume and ejection fraction compared to healthy controls.• A concordant attenuation in RV global longitudinal strain was observed in Marfan patients, while the RV global circumferential strain was increased, indicating a possible compensatory mechanism.• Subgroup analyses demonstrated alterations in RV ejection fraction and RV/LV global strain parameters, indicating a possible association of severe chest wall deformity with biventricular dysfunction in paediatric Marfan patients.
Highlights
Marfan syndrome (MFS) is a heritable systemic connective tissue disorder, with a prevalence of 2−3:10,000 [1]
This study investigated the occurrence of morphological alterations and systolic dysfunction in paediatric patients with MFS by cardiac magnetic resonance (CMR) and feature-tracking strain analysis compared to healthy controls
This study investigated the effect of chest wall deformity in paediatric MFS patients on cardiac systolic function suggesting that increased Haller index may be associated with a decrease in right ventricular (RV) volume, ejection fraction and longitudinal strain
Summary
Marfan syndrome (MFS) is a heritable systemic connective tissue disorder, with a prevalence of 2−3:10,000 [1]. It is caused by mutations in the FBN1 gene, which encodes fibrillin-1, an important glycoprotein for the extracellular matrix [1]. The pleotropic effects of the disorder are seen primary in but are not limited to the ocular, skeletal and cardiovascular systems [2]. Pectus excavatum (PE) is one of the prominent skeletal disorders and up to 70% of patients with MFS are reported to have PE [3]. The well-known cardiovascular manifestations are aortic dilatation and dissection, and heart failure caused by aortic or mitral valve regurgitation [2, 4]. There are studies suggesting the existence of cardiac dysfunction in the absence of valvular disease [5,6,7,8,9]
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