Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia

Author:

Brænne Ingrid,Reiz Benedikt,Medack Anja,Kleinecke Mariana,Fischer Marcus,Tuna Salih,Hengstenberg Christian,Deloukas Panos,Erdmann Jeanette,Schunkert Heribert,

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine

Reference32 articles.

1. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG: Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest. 1973, 52: 1544-1568. 10.1172/JCI107332.

2. Neefjes LA, Ten Kate GJ, Alexia R, Nieman K, Galema-Boers AJ, Langendonk JG, Weustink AC, Mollet NR, Sijbrands EJ, Krestin GP, de Feyter PJ: Accelerated subclinical coronary atherosclerosis in patients with familial hypercholesterolemia. Atherosclerosis. 2011, 219: 721-727. 10.1016/j.atherosclerosis.2011.09.052.

3. Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE: Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet. 2013, 381: 1293-1301. 10.1016/S0140-6736(12)62127-8.

4. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Boren J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjaerg-Hansen A, European Atherosclerosis Society Consensus P: Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013, 34: 3478-10.1093/eurheartj/eht273.

5. Brice P, Burton H, Edwards CW, Humphries SE, Aitman TJ: Familial hypercholesterolaemia: a pressing issue for European health care. Atherosclerosis. 2013, 231: 223-226. 10.1016/j.atherosclerosis.2013.09.019.

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