Ultrasonic Characteristics of Cardiovascular Changes in Children with Hutchinson–Gilford Progeria Syndrome: A Comparative Study with Normal Children and Aging People

Abstract

Background. The cardiovascular characteristics of children with Hutchinson-Gilford progeria syndrome (HGPS) remain unclear. The present study is aimed at evaluating the cardiovascular changes with ultrasound examination in children with HGPS and compared these with those in normal children and older people. Methods. Seven HGPS children, 21 age-matched healthy children, and 14 older healthy volunteers were evaluated by three-dimensional echocardiography (including strain analysis) and carotid elasticity examination with the echo-tracking technique. Results. Children with HGPS had higher left ventricular ejection fraction (LVEF) and global longitudinal strain, when compared to older healthy volunteers (P<0.05). However, these parameters were not significantly different, when compared to those in healthy children. Furthermore, children with HGPS had lower average peak times in the left ventricle, when compared with the other two groups. For the structure of the carotid artery detected by ultrasound, the abnormality rates were similar between children with HGPS and older healthy volunteers (83.3% vs. 71.4%). The elastic parameters, elastic modulus, stiffness parameter, and pulsed wave transmittal velocity of children with HGPS were lower, when compared to those in older healthy volunteers (P<0.05), while they were higher with arterial compliance (P>0.05). Furthermore, no significant difference existed among the vascular elastic parameters between HGPS and normal children. Conclusion. HGPS children had impaired left ventricular (LV) synchrony, when compared to normal children, although the difference in LVEF was not statistically significant. Furthermore, the structural abnormality of the carotid artery in HGPS children was similar to that in older people, although the index of elasticity appears to be more favorable. These results suggest that the cardiovascular system in HGPS children differs from natural aging.

Cardiovascular manifestations of Hutchinson–Gilford progeria syndrome

“…Degenerative cardiac findings differ from the natural ageing process, with highly accelerated calcium deposition in the coronary arteries, aortic artery, aortic and mitral valve cusps, and mitral annulus. 5 There were few therapeutical options; recently, new medical treatments and percutaneous interventions have brought some hope for progeria patients.…”

Molecular and Cellular Mechanisms Driving Cardiovascular Disease in Hutchinson-Gilford Progeria Syndrome: Lessons Learned from Animal Models

“…Interestingly, increased echobrightness was not associated with age, suggesting that extracellular matrix (ECM) remodeling may be an early alteration potentially underlying the development of the cardiac phenotype. Another recent study [ 37 ] applied three-dimensional echocardiography (speckled tracking imaging) to analyze seven HGPS patients (five children ≤ 8 years of age and two children in their teens), 21 aged-matched healthy children, and 14 older healthy volunteers (mean age: 65.7 ± 7.5). Despite the fact that most HGPS patients were in their first decade of life, the authors found one case of diastolic dysfunction and another of aortic valve calcification, severe aortic stenosis, and LV hypertrophy, in agreement with some of the findings reported by Prakash et al [ 30 ].…”