What Causes Premature Coronary Artery Disease?

GBD 2013 Mortality and Causes of Death Collaborators. Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013. Lancet. 2015; 385(9963):117–171

Khera AV, et al. Genetic risk, adherence to a healthy lifestyle, and coronary disease. N Engl J Med. 2016;375(24):2349–58.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Malakar AK, Choudhury D, Halder B, Paul P, Uddin A, Chakraborty S. A review on coronary artery disease, its risk factors, and therapeutics. J Cell Physiol. 2019;234(10):16812–23.

Article  CAS  PubMed  Google Scholar 

Thygesen K, et al. Fourth universal definition of myocardial infarction (2018). Circulation. 2018;138(20):e618–51.

Article  PubMed  Google Scholar 

Arnett DK et al. 2019 ACC/AHA guideline on the primary prevention of cardiovascular disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019 https://doi.org/10.1161/CIR.0000000000000678

Wilmot KA, O’Flaherty M, Capewell S, Ford ES, Vaccarino V. Coronary heart disease mortality declines in the United States from 1979 through 2011: evidence for stagnation in young adults, especially women. Circulation. 2015;132(11):997–1002.

Article  PubMed  PubMed Central  Google Scholar 

Zheng ZJ, Croft JB, Giles WH, Mensah GA. Sudden cardiac death in the United States, 1989 to 1998. Circulation. 2001;104(18):2158–63.

Article  CAS  PubMed  Google Scholar 

Pejic RN. Familial hypercholesterolemia. Ochsner J. 2014;14(4)669-672

Ison HE, Clarke SL, and Knowles JW. Familial hypercholesterolemia. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, and Amemiya A, Editors. GeneReviews, Seattle (WA): University of Washington, Seattle, 2014

Vallejo-Vaz AJ, et al. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet. 2021;398(10312):1713–25.

Article  CAS  Google Scholar 

Albiero R, Seresini G. Atherosclerotic spontaneous coronary artery dissection (A-SCAD) in a patient with COVID-19: case report and possible mechanisms. Eur Heart J Case Rep. 2020;4(FI1):1–6.

Article  PubMed  PubMed Central  Google Scholar 

Klarin D, Natarajan P. Clinical utility of polygenic risk scores for coronary artery disease. Nat Rev Cardiol. 2021;19(5):291–301.

Article  PubMed  PubMed Central  Google Scholar 

Lali R, Cui E, Ansarikaleibari A, Pigeyre M, Paré G. Genetics of early-onset coronary artery disease: from discovery to clinical translation. Curr Opin Cardiol. 2019;34(6):706–13.

Article  PubMed  Google Scholar 

Zdravkovic S, Wienke A, Pedersen NL, Marenberg ME, Yashin AI, De Faire U. Heritability of death from coronary heart disease: a 36-year follow-up of 20 966 Swedish twins. J Intern Med. 2002;252(3):247–54.

Article  CAS  PubMed  Google Scholar 

Di Scipio M, et al. A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets. Nat Commun. 2023;14(1):5196.

Article  PubMed  PubMed Central  Google Scholar 

Khera AV, Kathiresan S. Genetics of coronary artery disease: discovery, biology and clinical translation. Nat Rev Genet. 2017;18(6):331–44.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sayols-Baixeras S, Lluís-Ganella C, Lucas G, Elosua R. Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants. Appl Clin Genet. 2014;7:15–32.

PubMed  PubMed Central  Google Scholar 

Marenberg ME, Risch N, Berkman LF, Floderus B, de Faire U. Genetic susceptibility to death from coronary heart disease in a study of twins. N Engl J Med. 1994;330(15):1041–6.

Article  CAS  PubMed  Google Scholar 

Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. Familial risk assessment for early-onset coronary heart disease. Genet Med. 2006;8(8):525–31.

Article  PubMed  Google Scholar 

Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. Expanding the definition of a positive family history for early-onset coronary heart disease. Genet Med. 2006;8(8):491–501.

Article  PubMed  Google Scholar 

Genetic Alliance and New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services, Understanding genetics: a New York, mid-Atlantic guide for patients and health professionals. Lulu.com, 2009

Hu P et al. Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease Circulation. 2020. https://doi.org/10.1161/CIRCULATIONAHA.119.044795. This work reassessed the global prevalence of familial hypercholesterolemia through systematic review and meta-analysis, after observing previous estimates likely underreported the disease. The current overall global prevalence is reported to be 1:311.

Shah AS and Wilson DP. Genetic disorders causing hypertriglyceridemia in children and adolescents. MDText.com, Inc., 2023

Goyal A, Cusick AS, and Reilly E. Familial hypertriglyceridemia. StatPearls Publishing, 2023

de Beer F, et al. Expression of type III hyperlipoproteinemia in apolipoprotein E2 (Arg158 –> Cys) homozygotes is associated with hyperinsulinemia. Arterioscler Thromb Vasc Biol. 2002;22(2):294–9.

Article  PubMed  Google Scholar 

Myrie SB, Steiner RD, Mymin D. Sitosterolemia. Seattle: University of Washington; 2020.

Google Scholar 

Alshaikhli A and Vaqar S. Tangier disease. StatPearls Publishing, 2023

Burnett JR, Hooper AJ, McCormick SPA, Hegele RA. Tangier Disease. Seattle: University of Washington; 2019.

Google Scholar 

Faeh D, Chiolero A, Paccaud F. Homocysteine as a risk factor for cardiovascular disease: should we (still) worry about? Swiss Med Wkly. 2006;136(47–48):745–56.

CAS  PubMed  Google Scholar 

Alrefaei AF, Abu-Elmagd M. LRP6 receptor plays essential functions in development and human diseases. Genes. 2022;13(1):120.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Singh R, et al. Rare nonconservative LRP6 mutations are associated with metabolic syndrome. Hum Mutat. 2013;34(9):1221–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mani A, et al. LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science. 2007;315(5816):1278–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Xu Y, et al. Functional analysis LRP6 novel mutations in patients with coronary artery disease. PLoS ONE. 2014;9(1):e84345.

Article  PubMed  PubMed Central  Google Scholar 

Srivastava R, Zhang J, Go G-W, Narayanan A, Nottoli TP, Mani A. Impaired LRP6-TCF7L2 activity enhances smooth muscle cell plasticity and causes coronary artery disease. Cell Rep. 2015;13(4):746–59.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Morris CA. Williams syndrome. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, and Amemiya A, Editors., GeneReviews®. Seattle (WA): University of Washington, Seattle; 1999.

Dadlani GH, et al. Cardiovascular screening in Williams syndrome. Prog Pediatr Cardiol. 2020;58:101267.

Article  Google Scholar 

Sickles CK and Gross GP. Progeria. StatPearls Publishing; 2022

Gordon LB, Ted Brown W, and Collins FS. Hutchinson-Gilford progeria syndrome. University of Washington, Seattle; 2019

Olive M, et al. Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging. Arterioscler Thromb Vasc Biol. 2010;30(11):2301–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Prakash A, et al. Cardiac abnormalities in patients with Hutchinson-Gilford progeria syndrome. JAMA Cardiol. 2018;3(4):326–34.

Article  PubMed  PubMed Central  Google Scholar 

Germain DP. Pseudoxanthoma elasticum. Orphanet J Rare Dis. 2017;12(1):1–13.

Article  Google Scholar 

G. Lefthériotis et al. The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification. Front Genet. 2013;4. https://doi.org/10.3389/fgene.2013.00004.

Vikulova DN, Trinder M, Mancini GBJ, Pimstone SN, Brunham LR. Familial hypercholesterolemia, familial combined hyperlipidemia, and elevated lipoprotein(a) in patients with premature coronary artery disease. Can J Cardiol. 2021;37(11):1733–42.

Article  PubMed  Google Scholar 

Gratton J, Humphries SE, Futema M. Prevalence of FH-causing variants and impact on LDL-C concentration in European, South Asian, and African Ancestry groups of the UK Biobank-brief report. Arterioscler Thromb Vasc Biol. 2023;43(9):1737–42.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Toft-Nielsen F, Emanuelsson F, Benn M. Familial hypercholesterolemia prevalence among ethnicities-systematic review and meta-analysis. Front Genet. 2022;13:840797.

Article  PubMed  PubMed Central  Google Scholar 

Alnouri F et al. Xanthomas can be misdiagnosed and mistreated in homozygous familial hypercholesterolemia patients: a call for increased awareness among dermatologists and health care practitioners. Glob Heart. 2020;15(1). https://doi.org/10.5334/gh.759

Civeira F, et al. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arterioscler Thromb Vasc Biol. 2005. https://doi.org/10.1161/01.ATV.0000177811.14176.2b.

Article  PubMed  Google Scholar 

Bell A and Shreenath AP. Xanthoma. In: StatPearls, StatPearls Publishing, 2022

Brunham LR, et al. Canadian cardiovascular society position statement on familial hypercholesterolemia: Update 2018. Can J Cardiol. 2018;34(12):1553–63.

Article  PubMed  Google Scholar 

Abul-Husn NS et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016. https://doi.org/10.1126/science.aaf7000

Sharifi M, Futema M, Nair D, Humphries SE. Genetic architecture of familial hypercholesterolaemia. Curr Cardiol Rep. 2017;19(5):44.

Article  PubMed  PubMed Central  Google Scholar 

Abifadel M, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003;34(2):154–6.

留言 (0)

沒有登入
gif