Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia

Wiegman, Albert; Groot, Eric de; Hutten, Barbara A.; Rodenburg, Jessica; Gort, Johan; Bakker, Henk D.; Sijbrands, Eric J.G.; Kastelein, John J.P.

doi:10.1016/s0140-6736(04)15467-6

Cited by 282 publications

(177 citation statements)

References 4 publications

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“…Carotid intima media thickness and distensibility, associated with age, anthropometry and BP are elevated in at-risk children with familial hypercholesterolaemia (115,116), overweight (117,118), HTN (119,120), and type 1 diabetes (121).…”

Section: Blood Vesselsmentioning

confidence: 99%

2016 European Society of Hypertension guidelines for the management of high blood pressure in children and adolescents

Lurbe

Agabiti‐Rosei

Cruickshank

et al. 2016

Journal of Hypertension

1,042

1,063

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Section: Blood Vesselsmentioning

confidence: 99%

2016 European Society of Hypertension guidelines for the management of high blood pressure in children and adolescents

Lurbe

Agabiti‐Rosei

Cruickshank

et al. 2016

Journal of Hypertension

1,042

1,063

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show abstract

“…Various studies have shown a strong correlation between IMT and cardiovascular risk factors [41][42][43] . Over the past decade, several large observational studies have demonstrated that baseline CIMT is an independent predictor of future clinical cardiovascular events [44][45][46][47][48][49][50] .…”

Section: B-mode Ultrasound Carotid Intima-media Thicknessmentioning

confidence: 99%

Métodos por imagem da aterosclerose em estudos de progressão/regressão: marcador substituto ou janela direta para o processo patológico da aterosclerose?

Schoenhagen¹,

Tuzcu²

2008

Arq. Bras. Cardiol.

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SummaryCAD remains a major global cause of morbidity and mortality. Comprehensive drug development programs of novel pharmacological treatment strategies frequently utilize traditional mortality/morbidity endpoints studies and additional surrogate endpoints trials. This parallel approach allows an assessment of efficacy several years in advance of the availability of data from clinical endpoint trials. Several atherosclerosis imaging markers have been introduced into these drug-development strategies, including angiography, carotid ultrasound, IVUS, MRI, and CT. This review will discuss the current status of atherosclerosis imaging as an endpoint in progression/regression trials, with an emphasis on evidence-based data. In addition to a discussion of the results of individual imaging modalities, the emerging data comparing different modalities and approaches are presented.

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“…[10][11][12] Therefore, it has been suggested that incidental detection of variants leading to FH should be communicated to the affected individual and the family. 13 In fact, owing to the high frequency of FH, several guidelines recommend programs to systematically unravel variants and to facilitate medical treatment already at young age.…”

Section: Introductionmentioning

confidence: 99%

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

et al. 2015

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Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in four genes have been reported to cause the classical autosomal-dominant form of the disease. FH is largely under-diagnosed in European countries. As FH increases the risk for coronary artery disease (CAD) and myocardial infarction (MI), it might be specifically overlooked in the large number of such patients. Here, we systematically examined the frequency of potential FH-causing variants by exome sequencing in 255 German patients with premature MI and a positive family history for CAD. We further performed co-segregation analyses in an average of 5.5 family members per MI patient. In total, we identified 11 potential disease-causing variants that co-segregate within the families, that is, 5% of patients with premature MI and positive CAD family history had FH. Eight variants were previously reported as disease-causing and three are novel (LDLR.c.811G4A p.(V271I)), PCSK9.c.610G4A (p. (D204N)) and STAP1.c.139A4G (p. (T47A))). Co-segregation analyses identified multiple additional family members carrying one of these FH variants and the clinical phenotype of either FH (n = 2) or FH and premature CAD (n = 15). However, exome sequencing also revealed that some variants in FH genes, which have been reported to cause FH, do not co-segregate with FH. The data reveal that a large proportion of FH patients escape the diagnosis, even when they have premature MI. Hence, systematic molecular-genetic screening for FH in such patients may reveal a substantial number of cases and thereby allow a timely LDLC-lowering in both FH/MI patients as well as their variantcarrying family members.

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Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia

Cited by 282 publications

References 4 publications

2016 European Society of Hypertension guidelines for the management of high blood pressure in children and adolescents

2016 European Society of Hypertension guidelines for the management of high blood pressure in children and adolescents

Métodos por imagem da aterosclerose em estudos de progressão/regressão: marcador substituto ou janela direta para o processo patológico da aterosclerose?

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

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