Coronary computed tomographic angiographic findings in asymptomatic patients with heterozygous familial hypercholesterolemia and null allele low-density lipoprotein receptor mutations

American Journal of Cardiology

Volumn 111, Issue 7, 2013, Pages 955-961

  Viladés Medel, David ^a   Leta Petracca, Rubén ^a   Carreras Costa, Francesc ^a   Cardona Olle, Montserrat ^a   Barros Membrilla, Antonio ^a   Hidalgo Perez, Jose Alberto ^a   Pujadas Olano, Sandra ^a   Alomar Serrallach, Xavier ^b   Franco Peral, Miquel ^a   Pons Lladó, Guillem ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b Clinica Creu Blanca   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CLINICAL ARTICLE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; CONTROLLED STUDY; CORONARY ARTERY DISEASE; DISEASE SEVERITY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA; HUMAN; MALE; MEDICAL EXAMINATION; MICROARRAY ANALYSIS; NULL ALLELE; PREVALENCE; PRIORITY JOURNAL;

AGE FACTORS; ALLELES; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; COMORBIDITY; CONTRAST MEDIA; CORONARY ANGIOGRAPHY; CORONARY ARTERY DISEASE; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; IOHEXOL; LIPIDS; LOGISTIC MODELS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PREVALENCE; RECEPTORS, LDL; RISK FACTORS; SEVERITY OF ILLNESS INDEX; STATISTICS, NONPARAMETRIC; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84875220970     PISSN: 00029149     EISSN: 18791913     Source Type: Journal    
DOI: 10.1016/j.amjcard.2012.12.012     Document Type: Article

References (30)

1. M.A. Austin, C.M. Hutter, R.L. Zimmern, and S.E. Humphries Familial hypercholesterolemia and coronary heart disease: a huge association review Am J Epidemiol 160 2004 421 429
2. F. Civeira, S. Castillo, R. Alonso, E. Merino-Ibarra, A. Cenarro, M. Artied, P. Martin-Fuentes, E. Ros, M. Pocovi, P. Mata Spanish Familial Hypercholesterolemia Group Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation Arterioscler Thromb Vasc Biol 25 2005 1960 1965
3. C.M. Hutter, M.A. Austin, and S.E. Humphries Familial hypercholesterolemia, peripheral arterial disease, and stroke: a huge minireview Am J Epidemiol 160 2004 430 435
4. A. Gaddi, A.F. Cicero, F.O. Odoo, A.A. Poli, R. Paoletti Atherosclerosis, Metabolic Diseases Study Group Practical guidelines for familial combined hyperlipidemia diagnosis: an up-date Vasc Health Risk Manag 3 2007 877 886
5. F. Civeira International Panel on Management of Familial Hypercholesterolemia Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia Atherosclerosis 173 2004 55 68
6. L. Goldman, P.A. Goldman, L.W. Williams, and M.C. Weinstein Cost-effectiveness considerations in the treatment of heterozygous familial hypercholesterolemia with medications Am J Cardiol 72 1993 75D 79D
7. I.F. Fokkema, J.T. den Dunnen, and P.E. Taschner LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach Human Mutat 26 2005 63 68
8. A.P. Michaelides, C.A. Fourlas, C. Pitsavos, G.K. Andrikopoulos, I. Skoumas, A. Kartalis, A. Katsaros, P. Stougiannos, and C.I. Stefanadis Exercise testing in asymptomatic patients with heterozygous familial hypercholesterolaemia Coron Artery Dis 15 2004 461 465
9. D.S. Celermajer, K.E. Sorensen, V.M. Gooch, D.J. Spiegelhalter, O.I. Miller, I.D. Sullivan, J.K. Lloyd, and J.E. Deanfield Non-invasive detection of endothelial dysfunction in children and adults at risk of atherosclerosis Lancet 340 1992 1111 1115
10. F.A. Spengel, B. Kaess, C. Keller, K.K. Kroner, M. Schreiber, H. Schuster, and N. Zollner Atherosclerosis of the carotid arteries in young patients with familial hypercholesterolemia Klin Wochenschr 66 1988 65 68
11. R.D. Santos, R.S. Meneghelo, A.P. Chacra, T.L. Martinez, J.A. Ramires, and J.A. Carvalho Detection of subclinical atherosclerosis by electron beam tomography in females with heterozygous familial hypercholesterolaemia Heart 90 2004 92 94
12. M.H. Miname, M.S. Ribeiro II, J. Parga Filho, L.F. Avila, L.A. Bortolotto, L.R. Martinez, C.E. Rochitte, and R.D. Santos Evaluation of subclinical atherosclerosis by computed tomography coronary angiography and its association with risk factors in familial hypercholesterolemia Atherosclerosis 213 2010 486 491
13. L.A. Neefjes, G.J. Ten Kate, R. Alexia, K. Nieman, A.J. Galema-Boers, J.G. Langendonk, A.C. Weustink, N.R. Mollet, E.J. Sijbrands, G.P. Krestin, and P.J. de Feyter Accelerated subclinical coronary atherosclerosis in patients with familial hypercholesterolemia Atherosclerosis 219 2011 721 727
14. L.A. Neefjes, G.J. Ten Kate, A. Rossi, A.J. Galema-Boers, J.G. Langendonk, A.C. Weustink, A. Moelker, K. Nieman, N.R. Mollet, G.P. Krestin, E.J. Sijbrands, and P.J. de Feyter CT coronary plaque burden in asymptomatic patients with familial hypercholesterolaemia Heart 97 2011 1151 1157
15. W.B. Meijboom, M.F. Meijs, J.D. Schuijf, M.J. Cramer, N.R. Mollet, C.A. van Mieghem, K. Nieman, J.M. van Werkhoven, G. Pundziute, A.C. Weustink, A.M. de Vos, F. Pugliese, B. Rensing, J.W. Jukema, J.J. Bax, M. Prokop, P.A. Doevendans, M.G. Hunink, G.P. Krestin, and P.J. de Feyter Diagnostic accuracy of 64-slice computed tomography coronary angiography: a prospective, multicenter, multivendor study J Am Coll Cardiol 52 2008 2135 2144
16. D. Tejedor, S. Castillo, P. Mozas, E. Jimenez, M. Lopez, M.T. Tejedor, M. Artieda, R. Alonso, P. Mata, L. Simon, A. Martinez, M. Pocovi Spanish FH Group Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia Clin Chem 51 2005 1137 1144
17. F.J. Chaves, J.T. Real, A.B. Garcia-Garcia, M. Civera, M.E. Armengod, J.F. Ascaso, and R. Carmena Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol J Clin Endocrinol Metab 86 2001 4926 4932
18. M.J. Budoff, M.C. Cohen, M.J. Garcia, J.M. Hodgson, W.G. Hundley, J.A. Lima, W.J. Manning, G.M. Pohost, P.M. Raggi, G.P. Rodgers, J.A. Rumberger, A.J. Taylor, M.A. Creager, J.W. Hirshfeld Jr., B.H. Lorell, G. Merli, G.P. Rodgers, C.M. Tracy, H.H. Weitz American College of Cardiology Foundation, American Heart Association, American College of Physicians Task Force on Clinical Competence, American Society of Echocardiography, American Society of Nuclear Cardiology, Society of Atherosclerosis Imaging, Society for Cardiovascular Angiography and Interventions, Society of Cardiovascular Computed Tomography ACCF/AHA clinical competence statement on cardiac imaging with computed tomography and magnetic resonance Circulation 112 2005 598 617
19. J.K. Min, A. Dunning, F.Y. Lin, S. Achenbach, M. Al-Mallah, M.J. Budoff, F. Cademartiri, T.Q. Callister, H.J. Chang, V. Cheng, K. Chinnaiyan, B.J. Chow, A. Delago, M. Hadamitzky, J. Hausleiter, P. Kaufmann, E. Maffei, G. Raff, L.J. Shaw, T. Villines, D.S. Berman CONFIRM Investigators 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 2011 849 860
20. D. Hausmann, J.A. Johnson, K. Sudhir, W.L. Mullen, G. Friedrich, P.J. Fitzgerald, T.M. Chou, T.A. Ports, J.P. Kane, M.J. Malloy, and P.G. Yock Angiographically silent atherosclerosis detected by intravascular ultrasound in patients with familial hypercholesterolemia and familial combined hyperlipidemia: correlation with high density lipoproteins J Am Coll Cardiol 27 1996 1562 1570
21. A.J. Taylor, M. Cerqueira, J.M. Hodgson, D. Mark, J. Min, P. O'Gara, G.D. Rubin, American College of Cardiology Foundation Appropriate Use Criteria Task Force, Society of Cardiovascular Computed Tomography, American College of Radiology, American Heart Association, American Society of Echocardiography, American Society of Nuclear Cardiology, North American Society for Cardiovascular Imaging, Society for Cardiovascular Angiography and Interventions, Society for Cardiovascular Magnetic Resonance, C.M. Kramer, D. Berman, A. Brown, F.A. Chaudhry, R.C. Cury, M.Y. Desai, A.J. Einstein, A.S. Gomes, R. Harrington, U. Hoffmann, R. Khare, J. Lesser, C. McGann, A. Rosenberg, R. Schwartz, M. Shelton, G.W. Smetana, and S.C. Smith Jr. ACCF/SCCT/ACR/AHA/ ASE/ASNC/NASCI/SCAI/SCMR 2010 appropriate use criteria for cardiac computed tomography: a report of the American College of Cardiology Foundation Appropriate Use Criteria Task Force, the Society of Cardiovascular Computed Tomography, the American College of Radiology, the American Heart Association, the American Society of Echocardiography, the American Society of Nuclear Cardiology, the North American Society for Cardiovascular Imaging, the Society for Cardiovascular Angiography and Interventions, and the Society for Cardiovascular Magnetic Resonance J Am Coll Cardiol 56 2010 1864 1894
22. J.J. Rivera, K. Nasir, E.K. Choi, Y.E. Yoon, E.J. Chun, S.I. Choi, D.J. Choi, F.L. Brancati, R.S. Blumenthal, and H.J. Chang Detection of occult coronary artery disease in asymptomatic individuals with diabetes mellitus using non-invasive cardiac angiography Atherosclerosis 203 2009 442 448
23. E.K. Choi, S.I. Choi, J.J. Rivera, K. Nasir, S.A. Chang, E.J. Chun, H.K. Kim, D.J. Choi, R.S. Blumenthal, and H.J. Chang Coronary computed tomography angiography as a screening tool for the detection of occult coronary artery disease in asymptomatic individuals J Am Coll Cardiol 52 2008 357 365
24. G. Miltiadous, S. Xenophontos, E. Bairaktari, M. Ganotakis, M. Cariolou, and M. Elisaf Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia Pharmacogenet Genom 15 2005 219 225
25. S. Bertolini, A. Cantafora, M. Averna, C. Cortese, C. Motti, S. Martini, G. Pes, A. Postiglione, C. Stefanutti, I. Blotta, L. Pisciotta, M. Rolleri, S. Langheim, M. Ghisellini, I. Rabbone, and S. Calandra Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype Arterioscler Thromb Vasc Biol 20 2000 E41 E52
26. D. Gaudet, M.C. Vohl, P. Couture, S. Moorjani, G. Tremblay, P. Perron, C. Gagne, and J.P. Despres Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25-49 years) versus middle-aged (50-64 years) men Atherosclerosis 143 1999 153 161
27. A.C. Jansen, E.S. van Aalst-Cohen, M.W. Tanck, M.D. Trip, P.J. Lansberg, A.H. Liem, H.W. van Lennep, E.J. Sijbrands, and J.J. Kastelein The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients J Intern Med 256 2004 482 490
28. K.M. Chinnaiyan, G.L. Raff, T. Goraya, K. Ananthasubramaniam, M.J. Gallagher, A. Abidov, J.A. Boura, D. Share, and P.A. Peyser Coronary computed tomography angiography after stress testing results from a multicenter, statewide registry, ACIC (Advanced Cardiovascular Imaging Consortium) J Am Coll Cardiol 59 2012 688 695
29. A.J. Einstein, C.D. Elliston, A.E. Arai, M.Y. Chen, R. Mather, G.D. Pearson, R.L. Delapaz, E. Nickoloff, A. Dutta, and D.J. Brenner Radiation dose from single-heartbeat coronary CT angiography performed with a 320-detector row volume scanner Radiology 254 2010 698 706
30. M. Junyent, R. Gilabert, E. Jarauta, I. Nunez, M. Cofan, F. Civeira, M. Pocovi, M. Mallen, D. Zambon, F. Almagro, J. Vega, D. Tejedor, and E. Ros Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia Atherosclerosis 208 2010 437 441