Clin Exp Pediatr > Accepted Articles
DOI:    [Accepted]
Published online December 8, 2021.
Early myocardial functional abnormalities in primary dyslipidemia: clinical and echocardiographic observations in young children from a highly consanguineous population
Nehal M. El-koofy1  , Aya M. Fattouh1, Areef Ramadan1, Mohamed A. Elmonem2  , Dina H. Hamed1
1Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt
2Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt
Mohamed A. Elmonem, Email:
Received: 5 May 2021   • Revised: 15 November 2021   • Accepted: 18 November 2021
Dyslipidemia is a major health problem among children and adolescents worldwide due to its significant association with cardiovascular disease. Primary dyslipidemias are commonly familial syndromes that can be completely asymptomatic.
Apart from the risk of coronary artery disease (CAD), limited data are currently available on the direct effects of dyslipidemia on myocardial function in children.
We recruited 25 childrenwith primary dyslipidemia(14 with isolated hypercholesterolemia, 4 with isolated hypertriglyceridemia, and 7 with combined dyslipidemia).Relevant clinical manifestations and laboratory and radiological investigations were evaluated. Pulsed-wave Doppler and tissue Doppler imaging echocardiography were performed of all recruited patients and the results were compared with those of 15 age- and sex-matched healthy children.
The median age of the dyslipidemic children was 8years (range 1.5–16years). A family history was documented in 13 cases (52%), while 18 (72%) had consanguineous parents. None of the dyslipidemic children had a personal history or clinical manifestations of CAD. In contrast, echocardiographic findings differed in several diastolic function parameters of both right and left ventricles in dyslipidemic children compared to controls. Based on normalized Z-scores, aortic valve narrowing was detected in 7 patients (28%), while narrowing of the aortic sinus (sinus of Valsalva) was detected in 15patients (60%).
Different types of primary dyslipidemia produce functional myocardial abnormalities early in childhood. Biochemical and echocardiographic screening of high-risk children is advised to minimize the incidence of serious cardiovascular complications.
Key Words: Primary dyslipidemia, Cardiovascular complications, Pulsed-wave Doppler, Tissue Doppler echocardiography, Children

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