Imaging biomarkers to track subclinical atherosclerosis in heterozygous familial hypercholesterolemia

References

• Civeira F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 173(1), 55–68 (2004).
   Google Scholar
• Austin M, Hutter C, Zimmern R et al. Familial hypercholesterolemia and coronary heart disease: a huge association review. Am. J. Epidemiol. 160(5), 421–429 (2004).
   Google Scholar
• Stone NJ, Levy RI, Fredrickson DS et al. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation 49(3), 476–488 (1974).
   Google Scholar
• Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 2(7635), 1380–1382 (1969).
   Google Scholar
• Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis 142(1), 105–112 (1999).
   Google Scholar
• Mohrschladt MF, Westendorp RG, Gevers Leuven JA, Smelt AH. Cardiovascular disease and mortality in statin-treated patients with familial hypercholesterolemia. Atherosclerosis 172(2), 329–335 (2004).
   Google Scholar
• Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 303(6807), 893–896 (1991). Shows that the onset of coronary heart disease events is variable in familial hypercholesterolemia (FH), despite elevated cholesterol levels.
   Google Scholar
• Jansen AC, Aalst-Cohen ES, Tanck MW et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J. Intern. Med. 256(6), 482–490 (2004).
   Google Scholar
• Robinson JG, Goldberg AC. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J. Clin. Lipidol. 5(Suppl. 3), S18–S29 (2011).
   Google Scholar
• Gidding SS, Bookstein LC, Chomka EV. Usefulness of electron beam tomography in adolescents and young adults with heterozygous familial hypercholesterolemia. Circulation 98(23), 2580–2583 (1998). Shows that coronary artery calcification, albeit in low intensity, can be detected in young FH subjects.
   Google Scholar
• Santos RD, Meneghelo RS, Chacra AP et al. Detection of subclinical atherosclerosis by electron beam tomography in females with heterozygous familial hypercholesterolaemia. Heart 90(1), 92–94 (2004).
   Google Scholar
• Martinez LR, Miname MH, Bortolotto LA et al. No correlation and low agreement of imaging and inflammatory atherosclerosis’ markers in familial hypercholesterolemia. Atherosclerosis 200(1), 83–88 (2008). Shows a low agreement degree of the severity of coronary, carotid and aortic subclinical disease in heterozygous FH patients.
   Google Scholar
• Neefjes LA, Ten Kate GJ, Rossi A et al. CT coronary plaque burden in asymptomatic patients with familial hypercholesterolaemia. Heart 97(14), 1151–1157 (2011).
   Google Scholar
• Neefjes LA, Ten Kate GJ, Alexia R et al. Accelerated subclinical coronary atherosclerosis in patients with familial hypercholesterolemia. Atherosclerosis 219(2), 721–727 (2011).
   Google Scholar
• Wendelhag I, Wiklund O, Wikstrand J. Arterial wall thickness in familial hypercholesterolemia. Ultrasound measurement of intima–media thickness in the common carotid artery. Arterioscler. Thromb. 12(1), 70–77 (1992).
   Google Scholar
• Wiegman A, de Groot E, Hutten BA et al. Arterial intima–media thickness in children heterozygous for familial hypercholesterolaemia. Lancet 363(9406), 369–370 (2004).
   Google Scholar
• Caballero P, Alonso R, Rosado P et al. Detection of subclinical atherosclerosis in familial hypercholesterolemia using non-invasive imaging modalities. Atherosclerosis 222(2), 468–472 (2012).
   Google Scholar
• Arad Y, Goodman KJ, Roth M et al. Coronary calcification, coronary disease risk factors, C-reactive protein, and atherosclerotic cardiovascular disease events: the St. Francis Heart Study. J. Am. Coll. Cardiol. 46(1), 158–165 (2005).
   Google Scholar
• Pletcher MJ, Tice JA, Pignone M et al. Using the coronary artery calcium score to predict coronary heart disease events: a systematic review and meta-analysis. Arch. Intern. Med. 164(12), 1285–1292 (2004).
   Google Scholar
• Hodis HN, Mack WJ, LaBree L et al. The role of carotid arterial intima–media thickness in predicting clinical coronary events. Ann. Intern. Med. 128(4), 262–269 (1998).
   Google Scholar
• Lorenz MW, Polak JF, Kavousi M et al. PROG-IMT Study Group. Carotid intima–media thickness progression to predict cardiovascular events in the general population (the PROG-IMT collaborative project): a meta-analysis of individual participant data. Lancet 379(9831), 2053–2062 (2012). Shows that carotid intima–media thickness is associated with the risk of cardiovascular events, however, its progression is not.
   Google Scholar
• Kondos GT, Hoff JA, Sevrukov A et al. Electron-beam tomography coronary artery calcium and cardiac events: a 37-month follow-up of 5635 initially asymptomatic low- to intermediate-risk adults. Circulation 107(20), 2571–2576 (2003).
   Google Scholar
• Detrano R, Guerci AD, Carr JJ et al. Coronary calcium as a predictor of coronary events in four racial or ethnic groups. N. Engl. J. Med. 358(13), 1336–1345 (2008).
   Google Scholar
• Erbel R, Möhlenkamp S, Moebus S et al. Coronary risk stratification, discrimination, and reclassification improvement based on quantification of subclinical coronary atherosclerosis. The Heinz Nixdorf Recall Study. J. Am. Coll. Cardiol. 56(17), 1397–1406 (2010).
   Google Scholar
• Min JK, Dunning A, Lin FY et al. Age- and sex-related differences in all-cause mortality risk based on coronary computed tomography angiography findings results from the International Multicenter CONFIRM (Coronary CT Angiography Evaluation for Clinical Outcomes: an International Multicenter Registry) of 23,854 patients without known coronary artery disease. J. Am. Coll. Cardiol. 58(8), 849–860 (2011).
   Google Scholar
• Cho I, Chang HJ, Sung JM et al. On behalf of the CONFIRM Investigators. Coronary computed tomographic angiography and risk of all-cause mortality and nonfatal myocardial infarction in subjects without chest pain syndrome from the CONFIRM registry (Coronary CT Angiography Evaluation for Clinical Outcomes: an International Multicenter Registry). Circulation 126(3), 304–313 (2012). Showed that coronary obstruction by computed tomography angiography did not add substantial power to identifying subjects at high risk of coronary heart disease events when compared with a model that included classical risk factors and coronary artery calcification quantification in asymptomatic subjects from the general population.
   Google Scholar
• Falk E, Shah PK. The SHAPE guideline: ahead of its time or just in time? Curr. Atheroscler. Rep. 13(5), 345–352 (2011).
   Google Scholar
• Santos RD, Nasir K. Insights into atherosclerosis from invasive and non-invasive imaging studies: should we treat subclinical atherosclerosis? Atherosclerosis 205(2), 349–356 (2009).
   Google Scholar
• Voros S, Rivera JJ, Berman DS et al. Guideline for minimizing radiation exposure during acquisition of coronary artery calcium scans with the use of multidetector computed tomography: a report by the Society for Atherosclerosis Imaging and Prevention Tomographic Imaging and Prevention Councils in collaboration with the Society of Cardiovascular Computed Tomography. J. Cardiovasc. Comput. Tomogr. 5(2), 75–83 (2011).
   Google Scholar
• Agatston AS, Janowitz WR, Hildner FJ et al. Quantification of coronary artery calcium using ultrafast computed tomography. J. Am. Coll. Cardiol. 15(4), 827–832 (1990).
   Google Scholar
• Santos RD, Nasir K, Rumberger JA et al. Difference in atherosclerosis burden in different nations and continents assessed by coronary artery calcium. Atherosclerosis 187(2), 378–384 (2006).
   Google Scholar
• Greenland P, Alpert JS, Beller GA et al. 2010 ACCF/AHA guideline for assessment of cardiovascular risk in asymptomatic adults: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 122(25), e584–e636 (2010).
   Google Scholar
• Sarwar A, Shaw LJ, Shapiro MD et al. Diagnostic and prognostic value of absence of coronary artery calcification. JACC Cardiovasc. Imaging 2(6), 675–688 (2009).
   Google Scholar
• Hsiao EM, Rybicki FJ, Steigner M. CT coronary angiography: 256-slice and 320-detector row scanners. Curr. Cardiol. Rep. 12(1), 68–75 (2010).
   Google Scholar
• Miller JM, Rochitte CE, Dewey M et al. Diagnostic performance of coronary angiography by 64-row CT. N. Engl. J. Med. 359(22), 2324–2336 (2008).
   Google Scholar
• Motoyama S, Sarai M, Harigaya H et al. Computed tomographic angiography characteristics of atherosclerotic plaques subsequently resulting in acute coronary syndrome. J. Am. Coll. Cardiol. 54(1), 49–57 (2009).
   Google Scholar
• Touboul PJ, Hennerici MG, Meairs S et al. Mannheim carotid intima–media thickness and plaque consensus (2004–2006–2011). An update on behalf of the advisory board of the 3rd, 4th and 5th watching the risk symposia, at the 13th, 15th and 20th European Stroke Conferences, Mannheim, Germany, 2004, Brussels, Belgium, 2006, and Hamburg, Germany, 2011. Cerebrovasc. Dis. 34(4), 290–296 (2012).
   Google Scholar
• Smilde TJ, van Wissen S, Wollersheim H et al. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet 357(9256), 577–581 (2001).
   Google Scholar
• Howard BV, Roman MJ, Devereux RB et al. Effect of lower targets for blood pressure and LDL cholesterol on atherosclerosis in diabetes: the SANDS randomized trial. JAMA 299(14), 1678–1689 (2008).
   Google Scholar
• Nambi V, Chambless L, Folsom AR et al. Carotid intima–media thickness and presence or absence of plaque improves prediction of coronary heart disease risk: the ARIC (Atherosclerosis Risk in Communities) study. J. Am. Coll. Cardiol. 55(15), 1600–1607 (2010).
   Google Scholar
• Yeboah J, McClelland RL, Polonsky TS et al. Comparison of novel risk markers for improvement in cardiovascular risk assessment in intermediate-risk individuals. JAMA 308(8), 788–795 (2012).
   Google Scholar
• Den Ruijter HM, Peters SA, Anderson TJ et al. Common carotid intima–media thickness measurements in cardiovascular risk prediction. A meta-ana lysis. JAMA 308(8), 796–803 (2012).
   Google Scholar
• Corti R, Fuster V. Imaging of atherosclerosis: magnetic resonance imaging. Eur. Heart J. 32(14), 1709–1719 (2011).
   Google Scholar
• Noguchi T, Yamada N, Higashi M et al. High-intensity signals in carotid plaques on T1-weighted magnetic resonance imaging predict coronary events in patients with coronary artery disease. J. Am. Coll. Cardiol. 58(4), 416–422 (2011).
   Google Scholar
• Harloff A, Simon J, Brendecke S et al. Complex plaques in the proximal descending aorta: an underestimated embolic source of stroke. Stroke 41(6), 1145–1145 (2010).
   Google Scholar
• Raggi P, Davidson M, Callister TQ et al. Aggressive versus moderate lipid-lowering therapy in hypercholesterolemic postmenopausal women: Beyond Endorsed Lipid Lowering with EBT Scanning (BELLES). Circulation 112(4), 563–571 (2005).
   Google Scholar
• Arad Y, Spadaro LA, Roth M et al. Treatment of asymptomatic adults with elevated coronary calcium scores with atorvastatin, vitamin C, and vitamin E: the St. Francis Heart Study randomized clinical trial. J. Am. Coll. Cardiol. 46(1), 166–172 (2005).
   Google Scholar
• Kastelein JJ, Akdim F, Stroes ES et al.; ENHANCE Investigators. Simvastatin with or without ezetimibe in familial hypercholesterolemia. N. Engl. J. Med. 358(14), 1431–1443 (2008).
   Google Scholar
• Santos RD, Lorenzatti AJ, Barros CF et al. Discussants from a Clinical Lipidology Roundtable of Latin American Physicians. Clinical perspective: have the results of recent clinical trials of lipid-lowering therapies influenced the way we should practice? A Latin American perspective of current issues in clinical lipidology. J. Clin. Lipidol. 5(3), 124–132 (2011).
   Google Scholar
• Kastelein JJ, van Leuven SI, Burgess L et al. Effect of torcetrapib on carotid atherosclerosis in familial hypercholesterolemia. N. Engl. J. Med. 356(16), 1620–1630 (2007).
   Google Scholar
• Bots ML, Visseren FL, Evans GW et al. Torcetrapib and carotid intima–media thickness in mixed dyslipidaemia (RADIANCE 2 study): a randomised, double-blind trial. Lancet 370(9582), 153–160 (2007).
   Google Scholar
• Barter PJ, Caulfield M, Eriksson M et al. Effects of torcetrapib in patients at high risk for coronary events. N. Engl. J. Med. 357(21), 2109–2102 (2007).
   Google Scholar
• Schwartz GG, Olsson AG, Abt M et al. Effects of dalcetrapib in patients with a recent acute coronary syndrome. N. Engl. J. Med. 367(22), 2089–2099 (2012).
   Google Scholar
• Takaya N, Liu F, Polissar NL, Neradilek B et al. Effect of rosuvastatin therapy on carotid plaque morphology and composition in moderately hypercholesterolemic patients: a high-resolution magnetic resonance imaging trial. Am. Heart J. 155(3), 584.e1–584.e8 (2008).
   Google Scholar
• Gidding SS, McMahan CA, McGill HC et al. Prediction of coronary artery calcium in young adults using the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) risk score: the CARDIA study. Arch. Intern. Med. 166(21), 2341–2347 (2006).
   Google Scholar
• Miname MH, Ribeiro MS 2nd, Parga Filho J et al. Evaluation of subclinical atherosclerosis by computed tomography coronary angiography and its association with risk factors in familial hypercholesterolemia. Atherosclerosis 213(2), 486–491 (2010).
   Google Scholar
• Meijs M, Meijboom W, Bots M et al. Comparison of frequency of calcified versus non-calcified coronary lesions by computed tomographic angiography in patients with stable versus unstable angina pectoris. Am. J. Cardiol. 104(3), 305–311 (2009).
   Google Scholar
• Rodenburg J, Vissers MN, Wiegman A et al. Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation 116(6), 664–668 (2007). Shows that early lipid-lowering treatment is more efficacious than postponing statin use in preventing intima–media thickness progression in children and adolescents with FH.
   Google Scholar
• Schmitz SA, O’Regan DP, Fitzpatrick J et al. Quantitative 3T MR imaging of the descending thoracic aorta: patients with familial hypercholesterolemia have an increased aortic plaque burden despite long-term lipid-lowering therapy. J. Vasc. Interv. Radiol. 19(10), 1403–1408 (2008).
   Google Scholar
• Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ et al. Review of first 5 years of screening for familial hypercholesterolaemia in The Netherlands. Lancet 357(9251), 165–168 (2001).
   Google Scholar
• Alonso R, Mata N, Castillo S et al. Cardiovascular disease in familial hypercholesterolaemia: influence of lowdensity lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 200(2), 315–321 (2008).
   Google Scholar
• Seed M, Hoppichler F, Reaveley D et al. Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia. N. Engl. J. Med. 322(21), 1494–1499 (1990).
   Google Scholar
• Versmissen J, Oosterveer DM, Yazdanpanah M et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 337, a2423 (2008).
   Google Scholar
• Huijgen R, Kindt I, Verhoeven SB et al. Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal. PLoS ONE 5(2), e9220 (2010).
   Google Scholar
• Raal FJ, Santos RD, Blom DJ et al. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial. Lancet 375(9719), 998–1006 (2010).
   Google Scholar
• Cuchel M, Meagher EA, du Toit Theron H et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, Phase 3 study. Lancet 381(9860), 40–46 (2013).
   Google Scholar
• Stein EA, Gipe D, Bergeron J et al. Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce lowdensity lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a Phase 2 randomised controlled trial. Lancet 380(9836), 29–36 (2012).
   Google Scholar
• Budoff MJ, Hokanson JE, Nasir K et al. Progression of coronary artery calcium predicts all-cause mortality. JACC Cardiovasc. Imaging 3(12), 1229–1236 (2010).
   Google Scholar
• Raggi P, Callister TQ, Shaw LJ. Progression of coronary artery calcium and risk of first myocardial infarction in patients receiving cholesterol-lowering therapy. Arterioscler. Thromb. Vasc. Biol. 24(7), 1272–1277 (2004).
   Google Scholar