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Prediction of subtle left ventricular systolic dysfunction in homozygous and heterozygous familial hypercholesterolemia: Genetic analyses and speckle tracking echocardiography study
Author(s) -
Saracoglu Erhan,
Kılıç Salih,
Vuruşkan Ertan,
Düzen Irfan,
Çekici Yusuf,
Kuzu Zülfiye,
Yıldırım Arafat,
Küçükosmanoğlu Mehmet,
Çetin Mustafa
Publication year - 2018
Publication title -
echocardiography
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.404
H-Index - 62
eISSN - 1540-8175
pISSN - 0742-2822
DOI - 10.1111/echo.14021
Subject(s) - familial hypercholesterolemia , heterozygote advantage , medicine , cardiology , apolipoprotein b , speckle tracking echocardiography , compound heterozygosity , endocrinology , ejection fraction , cholesterol , heart failure , genotype , phenotype , biology , genetics , gene
Background and Aims Few studies have shown the direct effect of familial hypercholesterolemia ( FH ) on myocardial systolic function. Studies focused on heterozygote FH patients but not homozygote ones, and they did not perform genetic analyses. We aimed to evaluate all types of patients with FH using the potentially more sensitive speckle tracking echocardiography ( STE ) technique to identify early left ventricular ( LV ) dysfunction. Methods Genetic analyses of patients with FH were conducted for LDL ‐receptor, PCSK 9, and ApoB100. Nine homozygote, two compound heterozygote, and 82 heterozygote FH patients and 85 healthy subjects were prospectively studied. Longitudinal and circumferential strain measurements and conventional echocardiography findings were obtained. Results LV ejection fractions were similar for all (homozygote, heterozygote, and control) groups. The LV average longitudinal strain ( aLS ) and average circumferential strain ( aCS ) levels were significantly reduced in the homozygote and heterozygote groups when compared with the controls (for aLS , P = .008 (<.001); for aCS , P =< .001). A significant inverse correlation was found between LDL ‐C levels and LS ( P < .001, r = .728) and CS ( P < .001, r = .642) for all FH patients. Conclusions This study demonstrates the potential of using systolic strain values obtained using 2D STE for determining lipotoxicity in the myocardium owing to hypercholesterolemia. Our study found that cardiac functions of homozygote patients who had the highest cholesterol levels were disrupted at very early ages. Therefore, starting lipid reduction treatment and early reverse LV remodelling therapy at early ages may be beneficial for high‐risk patients.