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Volumn 2, Issue , 2012, Pages 45-50

Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia

Author keywords

Corneal arcus; Familial hypercholesterolaemia; Homozygous familial hypercholesterolaemia; Microsomal triglyceride transfer protein; Mitral regurgitation

Indexed keywords


EID: 85060691743     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_45     Document Type: Chapter
Times cited : (35)

References (39)
  • 2
    • 0036516789 scopus 로고    scopus 로고
    • Impact of the characteristics of patients and their clinical management on outcomes in children with homozygous familial hypercholesterolemia
    • Al-Shaikh AM, Abdullah MH, Barclay A et al (2002) Impact of the characteristics of patients and their clinical management on outcomes in children with homozygous familial hypercholesterolemia. Cardiol Young 12:105–112
    • (2002) Cardiol Young , vol.12 , pp. 105-111
    • Al-Shaikh, A.M.1    Abdullah, M.H.2    Barclay, A.3
  • 3
    • 42249103629 scopus 로고    scopus 로고
    • Vasuclar calcifications in homozygote familial hypercholesterolemia
    • Awan Z, Alrasadi K, Francis GA et al (2008) Vasuclar calcifications in homozygote familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 28:777–785
    • (2008) Arterioscler Thromb Vasc Biol , vol.28 , pp. 777-785
    • Awan, Z.1    Alrasadi, K.2    Francis, G.A.3
  • 5
    • 63649093134 scopus 로고    scopus 로고
    • Low density lipoprotein apheresis in pediatric patients with homozygous familial hypercholesterolemia
    • Coker M, Ucar SK, Simsek DG, Darcan S, Bak M, Can S (2009) Low density lipoprotein apheresis in pediatric patients with homozygous familial hypercholesterolemia. Ther Apher Dial 13(2):121–128
    • (2009) Ther Apher Dial , vol.13 , Issue.2 , pp. 121-128
    • Coker, M.1    Ucar, S.K.2    Simsek, D.G.3    Darcan, S.4    Bak, M.5    Can, S.6
  • 6
    • 33846151732 scopus 로고    scopus 로고
    • Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia
    • Cuchel M, Bloedon LT, Szapary PO et al (2007) Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. N Engl J Med 356:148–156
    • (2007) N Engl J Med , vol.356 , pp. 148-156
    • Cuchel, M.1    Bloedon, L.T.2    Szapary, P.O.3
  • 7
    • 48249093075 scopus 로고    scopus 로고
    • Lipid screening and cardiovascular health in childhood
    • Daniels SR, Greer FR, and the Committee on Nutrition (2008) Lipid screening and cardiovascular health in childhood. Pediatrics 122:198–208
    • (2008) Pediatrics , vol.122 , pp. 198-208
    • Daniels, S.R.1    Greer, F.R.2
  • 8
    • 84906418387 scopus 로고
    • The pathology of myocardial infarction
    • Davies MJ (1977) The pathology of myocardial infarction. J Clin Pathol Suppl 11:45–52
    • (1977) J Clin Pathol Suppl , vol.11 , pp. 45-52
    • Davies, M.J.1
  • 9
    • 0029091696 scopus 로고
    • Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation
    • Ferrières J, Lambert J, Lussier-Cacan S, Davignon J (1995) Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation. Circulation 92:290–295
    • (1995) Circulation , vol.92 , pp. 290-295
    • Ferrières, J.1    Lambert, J.2    Lussier-Cacan, S.3    Davignon, J.4
  • 10
    • 0001784838 scopus 로고
    • Familial hyperlipoproteinemia
    • Stanbury JJ, Wyngaarden JJ, Fredrickson DS, 3rd edn. McGraw-Hill Book Co., New York, 574
    • Fredrickson DS, Levy RI (1972) Familial hyperlipoproteinemia. In: Stanbury JJ, Wyngaarden JJ, Fredrickson DS (eds) The metabolic basis of inherited disease, 3rd edn. McGraw-Hill Book Co., New York, pp 545–614, see p 574
    • (1972) The Metabolic Basis of Inherited Disease , pp. 545-614
    • Fredrickson, D.S.1    Levy, R.I.2
  • 11
    • 0032759131 scopus 로고    scopus 로고
    • Mutation screening and genotype:Phenotype correlation in familial hypercholesterolaemia
    • Graham CA, McClean E, Ward AJ et al (1999) Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia. Atherosclerosis 147:309–316
    • (1999) Atherosclerosis , vol.147 , pp. 309-316
    • Graham, C.A.1    McClean, E.2    Ward, A.J.3
  • 12
    • 0017644715 scopus 로고
    • Family similarities in the age at coronary death in familial hypercholesterolaemia
    • Heiberg A, Slack J (1977) Family similarities in the age at coronary death in familial hypercholesterolaemia. Br Med J 2:493–495
    • (1977) Br Med J , vol.2 , pp. 493-495
    • Heiberg, A.1    Slack, J.2
  • 13
    • 54549104832 scopus 로고    scopus 로고
    • Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia
    • Hudgins LC, Keinman B, Scheuer A, White S, Gordon BR (2008) Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. Am J Cardiol 102:1199–1204
    • (2008) Am J Cardiol , vol.102 , pp. 1199-1204
    • Hudgins, L.C.1    Keinman, B.2    Scheuer, A.3    White, S.4    Gordon, B.R.5
  • 14
    • 33845875445 scopus 로고    scopus 로고
    • Cardiovascular risk reduction in high-risk pediatric patients (AHA scientific state-ment)
    • Kavey RE, Allada V, Daniels SR et al (2006) Cardiovascular risk reduction in high-risk pediatric patients (AHA scientific state-ment). Circulation 114:2710–2738
    • (2006) Circulation , vol.114 , pp. 2710-2738
    • Kavey, R.E.1    Allada, V.2    Daniels, S.R.3
  • 15
    • 0033044171 scopus 로고    scopus 로고
    • Characteristic cardiovascular manifestation in homozygous and heterozygous familial hypercholesterolemia
    • Kawaguchi A, Miyatake K, Yutani C et al (1999) Characteristic cardiovascular manifestation in homozygous and heterozygous familial hypercholesterolemia. Am Heart J 137:410–418
    • (1999) Am Heart J , vol.137 , pp. 410-418
    • Kawaguchi, A.1    Miyatake, K.2    Yutani, C.3
  • 16
    • 84910313954 scopus 로고
    • An autopsy case of a child with familial hyperlipidemia
    • quoted from Mabuchi H et al (1978) Am J Med 65:290–297
    • Kawahara K, Tsukada N, Kawahara N et al (1973) An autopsy case of a child with familial hyperlipidemia. Trans Soc Path Jpn 62:114, quoted from Mabuchi H et al (1978) Am J Med 65:290–297
    • (1973) Trans Soc Path Jpn , vol.62 , pp. 114
    • Kawahara, K.1    Tsukada, N.2    Kawahara, N.3
  • 18
    • 33646267462 scopus 로고    scopus 로고
    • Aortic root involvement in familial hypercholesterolemia – transesophageal echocardiographic appearances of supravalvular aortic stenosis
    • Koh TW (2005) Aortic root involvement in familial hypercholesterolemia – transesophageal echocardiographic appearances of supravalvular aortic stenosis. Echocardiography 22(10):859–860
    • (2005) Echocardiography , vol.22 , Issue.10 , pp. 859-860
    • Koh, T.W.1
  • 19
    • 56349147086 scopus 로고    scopus 로고
    • Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia
    • Kolansky DM, Cuchel M, Clark BJ et al (2008) Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 102:1438–1443
    • (2008) Am J Cardiol , vol.102 , pp. 1438-1443
    • Kolansky, D.M.1    Cuchel, M.2    Clark, B.J.3
  • 21
    • 36049025844 scopus 로고    scopus 로고
    • New targets and emerging therapies for reducing LDL cholesterol
    • Lilly SM, Rader DJ (2007) New targets and emerging therapies for reducing LDL cholesterol. Curr Opin Lipidol 18(6):650–655
    • (2007) Curr Opin Lipidol , vol.18 , Issue.6 , pp. 650-655
    • Lilly, S.M.1    Rader, D.J.2
  • 22
    • 0017886059 scopus 로고
    • Homozygous familial hypercholesterolemia in Japan
    • Mabuchi H, Tatami R, Toshihiro H et al (1978) Homozygous familial hypercholesterolemia in Japan. Am J Med 65:290–297
    • (1978) Am J Med , vol.65 , pp. 290-297
    • Mabuchi, H.1    Tatami, R.2    Toshihiro, H.3
  • 23
    • 0025316858 scopus 로고
    • Fatal outcome of homozygous familial hypercholesterolaemia in a black patient
    • Marais AD, Firth JC, Rose AG, Berger GM (1990) Fatal outcome of homozygous familial hypercholesterolaemia in a black patient. S Afr Med J 77:588–590
    • (1990) S Afr Med J , vol.77 , pp. 588-590
    • Marais, A.D.1    Firth, J.C.2    Rose, A.G.3    Berger, G.M.4
  • 24
    • 0024558277 scopus 로고
    • Homozygous familial hypercholesterolemia among French Canadians in Québec Province
    • Moorjani S, Roy M, Gagné C et al (1989) Homozygous familial hypercholesterolemia among French Canadians in Québec Province. Arteriosclerosis 9:211–216
    • (1989) Arteriosclerosis , vol.9 , pp. 211-216
    • Moorjani, S.1    Roy, M.2    Gagné, C.3
  • 25
    • 8444234306 scopus 로고    scopus 로고
    • Homozygous familial hypercholesterolemia presenting with cutaneous xanthomas: Response to liver transplantation
    • Moyle M, Tate B (2004) Homozygous familial hypercholesterolemia presenting with cutaneous xanthomas: response to liver transplantation. Australas J Dermatol 45:226–228
    • (2004) Australas J Dermatol , vol.45 , pp. 226-228
    • Moyle, M.1    Tate, B.2
  • 26
    • 4043093508 scopus 로고    scopus 로고
    • Current management of severe homozygous hypercholesterolaemias
    • Naoumova RP, Thompson GR, Soutar AK (2004) Current management of severe homozygous hypercholesterolaemias. Curr Opin Lipidol 15:413–422
    • (2004) Curr Opin Lipidol , vol.15 , pp. 413-422
    • Naoumova, R.P.1    Thompson, G.R.2    Soutar, A.K.3
  • 27
    • 44349191976 scopus 로고    scopus 로고
    • Low-density lipoprotein apheresis in children with familial hypercholesterolemia: Follow-up to 21 years
    • Palcoux JB, Atassi-Dumont M, Lefevre P et al (2008) Low-density lipoprotein apheresis in children with familial hypercholesterolemia: follow-up to 21 years. Ther Apher Dial 12(3):195–201
    • (2008) Ther Apher Dial , vol.12 , Issue.3 , pp. 195-201
    • Palcoux, J.B.1    Atassi-Dumont, M.2    Lefevre, P.3
  • 28
    • 0031743631 scopus 로고    scopus 로고
    • Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia
    • Rallidis L, Naoumova RP, Thompson GR, Nihoyannopoulos P (1998) Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia. Heart 80:583–590
    • (1998) Heart , vol.80 , pp. 583-590
    • Rallidis, L.1    Naoumova, R.P.2    Thompson, G.R.3    Nihoyannopoulos, P.4
  • 29
    • 0020039751 scopus 로고
    • Familial hypercholesterolemia: Report of coronary death at age 3 in a homozygous child and prenatal diagnosis in a heterozygous sibling
    • Rose V, Wilson G, Steiner G (1982) Familial hypercholesterolemia: report of coronary death at age 3 in a homozygous child and prenatal diagnosis in a heterozygous sibling. J Pediatr 100 (5):757–760
    • (1982) J Pediatr , vol.100 , Issue.5 , pp. 757-760
    • Rose, V.1    Wilson, G.2    Steiner, G.3
  • 30
    • 40949108372 scopus 로고    scopus 로고
    • Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography
    • Santos RD, Miname MH, Martinez LR et al (2008) Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography. Atherosclerosis 197:910–915
    • (2008) Atherosclerosis , vol.197 , pp. 910-915
    • Santos, R.D.1    Miname, M.H.2    Martinez, L.R.3
  • 31
    • 0029964683 scopus 로고    scopus 로고
    • Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia
    • Schmidt HH, Hill S, Makariou EV, Feuerstein IM, Dugi KA, Hoeg JM (1996) Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia. Am J Cardiol 77:575–580
    • (1996) Am J Cardiol , vol.77 , pp. 575-580
    • Schmidt, H.H.1    Hill, S.2    Makariou, E.V.3    Feuerstein, I.M.4    Dugi, K.A.5    Hoeg, J.M.6
  • 32
    • 0019190534 scopus 로고
    • A host of hyper-cholesterolaemic homozygotes in South Africa
    • Seftel HC, Baker SG, Sandler MP et al (1980) A host of hyper-cholesterolaemic homozygotes in South Africa. BMJ 281:633–636
    • (1980) BMJ , vol.281 , pp. 633-636
    • Seftel, H.C.1    Baker, S.G.2    Sandler, M.P.3
  • 33
    • 0021982079 scopus 로고
    • The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia
    • Sprecher DL, Hoeg JM, Schaefer EJ et al (1985) The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia. Metabolism 34(3):294–299
    • (1985) Metabolism , vol.34 , Issue.3 , pp. 294-299
    • Sprecher, D.L.1    Hoeg, J.M.2    Schaefer, E.J.3
  • 35
    • 44149123549 scopus 로고    scopus 로고
    • Recommendations for the use of LDL apheresis
    • HEART-UK LDL Apheresis Working Group
    • Thompson GR, HEART-UK LDL Apheresis Working Group (2008) Recommendations for the use of LDL apheresis. Atherosclerosis 198:247–255
    • (2008) Atherosclerosis , vol.198 , pp. 247-255
    • Thompson, G.R.1
  • 36
    • 74749107585 scopus 로고    scopus 로고
    • Efficacy criteria and cholesterol targets for LDL apheresis
    • Thompson GR, Barbir M, Davies D et al (2010) Efficacy criteria and cholesterol targets for LDL apheresis. Atherosclerosis 208:317–321
    • (2010) Atherosclerosis , vol.208 , pp. 317-321
    • Thompson, G.R.1    Barbir, M.2    Davies, D.3
  • 37
    • 84980167010 scopus 로고
    • Essential familial hyper-cholesterolemic xanthomatosis – an autopsy case with special reference to the pathogenesis of its cardiovascular lipidosis
    • quoted from Mabuchi H et al (1978) Am J Med 65:290–297
    • Watanabe T, Tanaka K, Yanai N (1968) Essential familial hyper-cholesterolemic xanthomatosis – an autopsy case with special reference to the pathogenesis of its cardiovascular lipidosis. Acta Pathol Jpn 18:319, quoted from Mabuchi H et al (1978) Am J Med 65:290–297
    • (1968) Acta Pathol Jpn , vol.18 , pp. 319
    • Watanabe, T.1    Tanaka, K.2    Yanai, N.3
  • 38
    • 78650030824 scopus 로고    scopus 로고
    • Sudden death in a 4-year-old boy: A near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia
    • Widhalm K, Binder CB, Kreissl A et al (2011) Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia. J Pediatr 158(1):167
    • (2011) J Pediatr , vol.158 , Issue.1 , pp. 167
    • Widhalm, K.1    Binder, C.B.2    Kreissl, A.3
  • 39
    • 41749113099 scopus 로고    scopus 로고
    • Correlating corneal arcus with atherosclerosis in familial hypercholesterolemia
    • retrieved on 30/12/10
    • Zech LA, Hoeg JM (2008) Correlating corneal arcus with atherosclerosis in familial hypercholesterolemia. Lipids in Health and Disease 7:7. (Available at: http://www.lipidworld.com/content/7/1/7, retrieved on 30/12/10)
    • (2008) Lipids in Health and Disease , vol.7 , pp. 7
    • Zech, L.A.1    Hoeg, J.M.2


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