{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:46:30Z","timestamp":1787244390130,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"2-3","license":[{"start":{"date-parts":[[2003,3,1]],"date-time":"2003-03-01T00:00:00Z","timestamp":1046476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2003,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:bold>Summary:<\/jats:bold>\n                    Inherited metabolic disorders contribute importantly to adverse cardiovascular outcomes and affect all tissue types. This review summarizes some of the more important aspects. In the venous system, heterozygosities for the factor V Leiden and prothrombin 20210G\u2009&gt;\u2009A mutations are common and occur in 4% and 1%, respectively, of caucasians. They confer a 2\u2010 to 3\u2010 fold increase in risk of venous, but not arterial, thrombosis. Marfan syndrome affects the systemic circulation and has a population prevalence of about 1 in 4000. The more than 200 mutations responsible are in the fibrillin\u20101 gene (15q21.1) and mediate the characteristic skeletal, lens and aortic changes. There are two potentially lethal inherited disorders of cardiac conduction, the long QT and Brugada syndromes. The prevalence for each is about 1 in 10 000. On the other hand, autosomal dominant hypertrophic cardiomyopathies are relatively common, at 1 in 500, but with variable penetrance. Mutations are in the sarcomere proteins and more than 140 are known. Hypertrophic cardiomyopathy may be confused with Fabry disease, for which effective treatment is now available. Mutations in several genes have been shown to produce dilated cardiomyopathy in the young, but there is as yet no specific treatment. In fatty acid oxidation disorders, arrhythmias and cardiomyopathy occur during acute decompensation. An important recently established cause of cardiomyopathy is carnitine transporter defect; it is treated effectively with oral carnitine. The autosomal dominant arrhythmogenic right ventricular dysplasia occurs with a prevalence of about 1 in 15 000 and presents with arrythmias and a dilated right ventricle. The mutations responsible have been mapped to chromosomes 1, 2, 10 and 14. Lysosomal storage disorders, the Ehlers\u2013Danlos syndrome and other connective\u2010tissue disorders affect cardiac valves and vessels. In addition to the relatively common inherited lipoprotein disorders familial hypercholesterolaemia and familial combined hyperlipidaemia, an important dominantly inherited lipid variable contributing to coronary risk is lipoprotein(a). The gene is localized tochromosome 6 and there is full expression in childhood. Elevated lipoprotein(a) levels contribute to the occurrence and severity of early\u2010onsetcoronary disease and add to the already enhanced risk in patients with familial hypercholesterolaemia.\n                  <\/jats:p>","DOI":"10.1023\/a:1024445402983","type":"journal-article","created":{"date-parts":[[2003,9,15]],"date-time":"2003-09-15T13:22:37Z","timestamp":1063632157000},"page":"245-257","source":"Crossref","is-referenced-by-count":22,"title":["Overview of inherited metabolic disorders causing cardiovascular disease"],"prefix":"10.1002","volume":"26","author":[{"given":"D. E. L.","family":"Wilcken","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Medicine The Prince of Wales Hospital and The University of New South Wales  Barker Street Randwick, Sydney NSW 2031 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"8 11","volume":"3303","author":"Australian Bureau of Statistics","year":"2001","journal-title":"The Causes of Death, Australia 2000"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)01900-9"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.91.6.1655"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.97.5.457"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.3.1004"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001573-200205000-00002"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.suppl_1.1799"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10104"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024449603891"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000022845.80802.9D"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.22.4.449"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(96)80010-4"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.12.2247"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K"},{"key":"e_1_2_1_16_1","first-page":"550","article-title":"The gene for cystathionine beta\u2010synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17","volume":"42","author":"Munke M","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.0000012665.51263.B7"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1067\/mhj.2000.103921"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V88.10.3698.bloodjournal88103698"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)09744-1"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000021163.86906.B2"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000012626.81324.38"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)09879-3"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710422"},{"key":"e_1_2_1_26_1","first-page":"2753","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Utermann G","year":"2001"},{"key":"e_1_2_1_27_1","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1542\/peds.89.3.401","article-title":"Early expression of the apolipoprotein (a) gene: relationships between infants' and their parents' serum apolipoprotein (a) levels","volume":"89","author":"Wang XL","year":"1992","journal-title":"Pediatrics"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.17.2.246"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-5994.2000.tb00834.x"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005373209964"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80944-8"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024497419821"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1161\/hq1201.100225"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1024445402983","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1024445402983","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:56:53Z","timestamp":1694746613000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1024445402983"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3]]},"references-count":32,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[2003,3]]}},"alternative-id":["10.1023\/A:1024445402983"],"URL":"https:\/\/doi.org\/10.1023\/a:1024445402983","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3]]}}}