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The main clinical features of both are neurologic, including developmental delay, hypotonia, and seizures. Dilated cardiomyopathy is a unique feature thus far only reported in type II. As somatic variants in <jats:italic>IDH2<\/jats:italic> are frequently identified in several different types of cancer, including acute myeloid leukemia (AML), a link between cancer and this metabolic disease has been proposed; however, there is no reported cancer in patients with either type of D\u20102\u2010HGA. Murine models have demonstrated how D\u20102\u2010hydroxyglutarate alters metabolism and epigenetics, a potential mechanism by which this metabolite may cause cancer and cardiomyopathy. Here, we report the first case of both AML and dilated cardiomyopathy in a pediatric patient with D\u20102\u2010HGA type I, who was treated with an anthracycline\u2010free regimen. This report may expand the clinical spectrum of this rare metabolic disease and provide insight on long\u2010term surveillance and care. However, this case is complicated by the presence of a complex chromosomal rearrangement resulting in a 25.5\u00a0Mb duplication of 1q41 and a 2.38\u2009Mb deletion of 2q37.3. Thus, the direct causal relationship between D\u20102\u2010HGA and leukemogenesis or cardiomyopathy warrants further scrutiny.<\/jats:p>","DOI":"10.1002\/ajmg.a.62891","type":"journal-article","created":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T07:28:00Z","timestamp":1656919680000},"page":"2707-2711","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with <scp>D\u20102\u2010hydroxyglutaric<\/scp> aciduria type I"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6985-3229","authenticated-orcid":false,"given":"Kristen","family":"Murphey","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul E.","family":"George","sequence":"additional","affiliation":[{"name":"Aflac Cancer and Blood Disorders Center Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"},{"name":"Department of Pediatrics Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bojana","family":"Pencheva","sequence":"additional","affiliation":[{"name":"Aflac Cancer and Blood Disorders Center Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"},{"name":"Department of Pediatrics Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher C.","family":"Porter","sequence":"additional","affiliation":[{"name":"Aflac Cancer and Blood Disorders Center Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"},{"name":"Department of Pediatrics Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie Burns","family":"Wechsler","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"},{"name":"Department of Pediatrics Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"},{"name":"Sibley Heart Center Cardiology Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Gambello","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"},{"name":"Department of Pediatrics Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9367-0761","authenticated-orcid":false,"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"},{"name":"Department of Pediatrics Emory University School of Medicine &amp; Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-008-9706-2"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcancer.2017.06.008"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-03-362608"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61530"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30153"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-0933-2"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22444"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1601650113"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9462-5"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32510"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a005975"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.3330"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2016.275"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000443599"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2012.01.013"},{"key":"e_1_2_7_17_1","doi-asserted-by":"crossref","unstructured":"Pirozzi C. 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