The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia

Charrière, Sybil; Vimont, A.; Muñiz-Grijalvo, Ovidio; Angoulvant, Denis; Béliard, Sophie; Boccara, Franck; Bruckert, Éric; Cariou, Bertrand; Carreau, Valérie; Carrié, Alain; Charrieres, Sybil; Cottin, Yves; Filippo, Mathilde Di; Ducluzeau, Pierre Henri; Dulong, Sonia; Durlach, V.; Farnier, Michel; Ferrari, Émile; Ferrières, Dorota; Ferrières, Jean; Gallo, Antonio; Giral, Philippe; Gonbert, Sophie; Hankard, R.; Inamo, Jocelyn; Kalmykova, Olga; Krempf, Michel; Lemale, Julie; Moulin, Philippe; Paillard, François; Peretti, Noël; Perrin, Agnès; Pradignac, A.; Rabes, Jean Pierre; Rigalleau, Vincent; Schiele, François; Sultan, Ariane; Tounian, P.; Valéro, René; Vergès, Bruno; Yelnik, Cécile; Ziegler, O.; Aguado, Rocío; Alonso, Rodrigo; Álvarez-Baños, Ma Pilar; Argüeso, Rosa; Arrieta, Francisco; Barba, Miguel Ángel Elvira; Casañas, Marta; Cepeda, José María; Andrés, Raimundo de; Díaz-Soto, Gonzalo; Díaz‐Díaz, José Luis; Diéguez, Marta; Faedo, Ceferino Martínez; Fuentes, Francisco; Garrido, Juan Antonio; González, A Rodríguez; González‐Bustos, Pablo; Mañas, Mª Dolores; Mata, Pedro; Mauri, Marta; Mediavilla, Juan Diego; Michán, Alfredo; Miramontes, Pablo; Muñiz, Ovidio; Pérez, Leire; Isla, Leopoldo Pérez de; Pintó, Xavier; Jiménez, Manuel Jesús Romero; Rubio, P.; Muñoz-Torrero, Juan Francisco Sánchez; Vidal-Pardo, José I.; Zambón, Daniel

doi:10.1016/j.jcmg.2021.06.011

Cited by 51 publications

(49 citation statements)

References 43 publications

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“… 53 In addition to the assessments or coronary plaque burden, CT scan can be performed to assess coronary and aortic calcification quantitatively, which is also associated with future cardiovascular events. 54 55 56 Moreover, we can now assess other important characteristics of coronary plaque, such as the presence of lipid-rich plaque and thin-cap fi1broatheroma, using optical coherence tomography. 57 58 Both of them have been associated with worse clinical outcomes.…”

Section: Phenotypic Variations Of Fhmentioning

confidence: 99%

Individualized Treatment for Patients With Familial Hypercholesterolemia

Tada

Takamura

Kawashiri

2022

J Lipid Atheroscler

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Familial hypercholesterolemia (FH) is one of the most common and, therefore, important inherited disorders in preventive cardiology. This disease is mainly caused by a single pathogenic mutation in the low-density lipoprotein receptor or its associated genes. Moreover, it is correlated with a high risk of cardiovascular disease. However, the phenotype severity even in this monogenic disease significantly varies. Thus, the current study aimed to describe FH and its importance and the factors (inherited and acquired) contributing to differences in phenotype severity. Different lipid-modification therapies according to these factors can lead to individualized treatments, which are also essential in the general populations.

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Section: Phenotypic Variations Of Fhmentioning

confidence: 99%

Individualized Treatment for Patients With Familial Hypercholesterolemia

Tada

Takamura

Kawashiri

2022

J Lipid Atheroscler

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“… 35 The Severe FH definition from the International Atherosclerosis Society 10 has been shown to identify higher-risk FH populations in the UK’s Simon Broome cohort, 38 whereas the CAC score has been shown to identify higher-risk FH individuals in Brazil, France, and Spain. 31 , 39 Indeed, a CAC score of zero, which occurs in approximately 45% of individuals enrolled in published imaging FH cohorts, 40 has been associated with a very low risk of ASCVD events in those undergoing standard LDL-C–lowering therapy despite having elevated LDL with treatment after a median 2.7 to 3.7-year follow-up. Table 1 shows different biomarkers to identify individuals with FH who are at higher cardiovascular risk.…”

Section: Natural History and Heterogeneity Of Ascvd Risk In Fhmentioning

confidence: 99%

Past, Present, and Future of Familial Hypercholesterolemia Management

Rocha

Santos

2021

Methodist DeBakey Cardiovascular Journal

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Familial hypercholesterolemia (FH) is a monogenic form of severe hypercholesterolemia that, if left untreated, is associated with early onset of atherosclerosis. FH derives from genetic variants that lead to inefficient hepatic clearance of low-density lipoprotein (LDL) particles from the circulation. The FH phenotype is encountered in approximately 1 of every 300 people. The risk of atherosclerotic cardiovascular disease (ASCVD) is higher in those with FH than in normolipidemic individuals and in those with polygenic hypercholesterolemia. FH is usually diagnosed by clinical scores that consider hypercholesterolemia, family history of early ASCVD and hypercholesterolemia, and cutaneous stigmata. Genetic diagnosis is important and should be offered to individuals suspected of FH. Family cascade screening is important to identify asymptomatic hypercholesterolemic individuals. Despite the high risk of ASCVD, this risk is heterogenous in heterozygous FH and depends not only on high LDL cholesterol (LDL-C) but also on other risk biomarkers. Risk can be evaluated by considering biomarkers such as male sex, late-onset therapy (> age 40), LDL-C > 310 mg/dL, low high-density lipoprotein cholesterol, elevated lipoprotein(a), obesity, diabetes, and hypertension by using specific risk equations and by detecting subclinical coronary atherosclerosis. Statins are the main therapy for FH and change the natural history of ASCVD; however, most individuals persist with elevated LDL-C. PCSK9 inhibitors provide robust and safe LDL-C lowering in FH, although elevated costs preclude their widespread use. Newer therapies such as ANGPTL3 inhibitors add intensive LDL-C lowering for refractory forms of FH. Finally, while it is possible to normalize LDL-C in people with FH, the disease unfortunately is still severely underdiagnosed and undertreated.

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“…If coronary arteries and aortic valves have been widely studied in HeFH patients, [11 , 12] studies on myocardial tissue characterization in this population are lacking. We accordingly designed the present study to 1) investigate myocardial tissue by CMR in patients with a genetic diagnosis of HeFH free of ASCVD and estimate the prevalence of myocardial fibrosis, 2) investigate concurrent systolic cardiac function, and 3) determine how CMR biomarkers relate to markers of increased lifelong exposure to high cholesterol levels.…”

Section: Introductionmentioning

confidence: 99%

Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study

Giral¹,

Rosenbaum²,

Mattina³

et al. 2021

eBioMedicine

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Background Familial Hypercholesterolemia (FH) is an underdiagnosed condition with an increased cardiovascular risk. It is unknown whether lipid accumulation plays a role in structural myocardial changes. Cardiovascular Magnetic Resonance (CMR) is the reference technique for the morpho-functional evaluation of heart chambers through cine sequences and for myocardial tissue characterization through late gadolinium enhancement (LGE) and T1 mapping images. We aimed to assess the prevalence of myocardial fibrosis in FH patients. Methods Seventy-two asymptomatic subjects with genetically confirmed FH (mean age 49·24, range 40 to 60 years) were prospectively recruited along with 31 controls without dyslipidaemia matched for age, sex, BMI, and other cardiovascular risk factors. All underwent CMR including cine, LGE, pre- and post-contrast T1 mapping. Extracellular volume (ECV) and enhancement rate of the myocardium (ERM = difference between pre- and post-contrast myocardial T1, normalized by pre-contrast myocardial T1) were calculated. Findings Five FH patients and none of the controls had intramyocardial LGE (p= 0·188). While no changes in Native T1 and ECV were found, post-contrast T1 was significantly lower (430·6 ± 55ms vs. 476·1 ± 43ms, p<0·001) and ERM was higher (57·44± 5·99 % vs 53·04±4·88, p=0·005) in HeFH patients compared to controls. Moreover, low post-contrast T1 was independently associated with the presence of xanthoma (HR 5·221 [1·04-26·28], p= 0·045). A composite score combining the presence of LGE, high native T1 and high ERM (defined as ≥ mean ± 1·5 SD) was found in 20·8% of the HeFH patients vs. 0% in controls (p<0·000, after adjustment for main confounders). Interpretation CMR revealed early changes in myocardial tissue characteristics in HeFH patients, that should foster further work to better understand and prevent the underlying pathophysiological processes.

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The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia

Cited by 51 publications

References 43 publications

Individualized Treatment for Patients With Familial Hypercholesterolemia

Individualized Treatment for Patients With Familial Hypercholesterolemia

Past, Present, and Future of Familial Hypercholesterolemia Management

Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study

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