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Early left ventricular abnormalities in children with heterozygous familial hypercholesterolemia
Giovanni Di Salvo1, Angelo Fabio D'Aiello, Biagio Castaldi
1Second University of Naples, Monaldi Hospital, Via Omodeo 45, Naples, Italy. giodisal@yahoo.it
Insights
Children with familial hypercholesterolemia (FH) show early cardiac changes, including thicker left ventricular walls and altered myocardial function, despite normal ejection fractions. These preclinical effects highlight the impact of high cholesterol in childhood.
Area of Science:
- Pediatric Cardiology
- Cardiovascular Imaging
- Genetic Lipid Disorders
Background:
- Limited data exist on cardiac morphology and function in children with heterozygous familial hypercholesterolemia (FH).
- FH offers a unique model to study pure hypercholesterolemia's cardiac effects, free from comorbidities.
- Speckle-tracking echocardiography enables detailed assessment of myocardial deformation.
Purpose of the Study:
- To investigate the preclinical effects of isolated hypercholesterolemia on cardiovascular structure and function in children with FH.
- To utilize speckle-tracking echocardiography to assess left ventricular (LV) function in these children.
Main Methods:
- Prospective study of 90 children (45 with FH, 45 controls), mean age 11 ± 3 years.
- Echocardiography with speckle-tracking to evaluate LV morphology and myocardial deformation.
Main Results:
- Children with FH exhibited increased LV wall thickness and LV mass.
- Diastolic function was impaired in FH children, indicated by prolonged deceleration times and reduced early diastolic velocities.
- Longitudinal and circumferential LV myocardial strain were significantly reduced, while radial strain increased, despite normal LV ejection fractions.
Conclusions:
- Hypercholesterolemia in childhood is linked to significant alterations in LV morphology and function.
- Reductions in longitudinal/circumferential strain appear compensated by increased radial strain in FH children with normal ejection fractions.
- Further long-term studies are needed to clarify the clinical significance and optimal treatment strategies for cholesterol-lowering therapy in young FH patients.
Background:
Few data are available on cardiac morphology and function in children with heterozygous familial hypercholesterolemia (FH). Such patients represent a unique clinical model to assess the effect of pure hypercholesterolemia on cardiac morphology and function, excluding the effect of comorbidities. Speckle-tracking echocardiography, a relatively new echocardiographic modality, allows the assessment of myocardial deformation properties. The aim of this study was to define in children with FH the preclinical effects of isolated hypercholesterolemia on the cardiovascular system by examining left ventricular (LV) function using speckle-tracking echocardiography.
Methods:
Ninety children (45 with FH and 45 controls; mean age, 11 ± 3 years) were prospectively studied.
Results:
Children with FH showed thicker LV walls and significantly higher LV mass indexed for height(2.7) (P = .0008) and for body surface area (P < .0001). LV ejection fractions were similar in both groups. Assessment of diastolic function demonstrated longer deceleration times (P < .0001), reduced early diastolic mitral annular velocities (P < .0001), and higher transmitral early/early diastolic mitral annular velocity ratios (P = .0003) in children with FH. Longitudinal and circumferential myocardial deformation of the left ventricle were significantly reduced (P < .0001) whereas radial deformation was increased in children with FH (P = .04) compared with controls.
Conclusions:
This study demonstrates that hypercholesterolemia is associated with significant LV morphologic and functional alterations during childhood. The findings also suggest that reductions in longitudinal and circumferential deformation are compensated for by increasing radial strain in children with FH with normal LV ejection fractions. This study raises the questions of the clinical importance of these findings and the opportunity for cholesterol-lowering therapy. The potential benefits and risks of such treatment at a young age need to be addressed in larger long-term studies.
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