{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:51:07Z","timestamp":1753876267208,"version":"3.41.2"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T00:00:00Z","timestamp":1722384000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Hypertrophic cardiomyopathy in the neonate has a diverse genetic background, and non-sarcomeric variants may not be identified on commercial genetic testing panels. NDUFB11 is an X-linked mitochondrial Complex I protein and is known to cause histiocytoid cardiomyopathy but has not been described in female infants with hypertrophic cardiomyopathy. We present this first reported case of obstructive hypertrophic cardiomyopathy in a female neonate secondary to a pathogenic variant in NDUFB11.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A term female neonate presented following a prenatal diagnosis of biventricular hypertrophy and growth restriction. She developed lactic acidosis after birth and whole-genome sequencing identified a de novo variant in the mitochondrial Complex I gene, NDUFB11 (c.391G&amp;gt;A, p.Glu131Lys). There was progression of left ventricular hypertrophy and obstruction, with rapid development of heart failure symptoms. She was unresponsive to beta-blocker medical therapy and was not suitable for advanced mechanical support. There was subsequent clinical deterioration resulting in death by 3 months of age.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>Hemizygous variants in NDUFB11 have been associated with hypertrophic cardiomyopathy in male infants previously, and skewed X-linked inactivation likely resulted in the presentation described here in a female infant. This variant was not identifiable by commercial cardiomyopathy panels. We highlight the importance of rapid whole-genome sequencing in cases of infantile hypertrophic cardiomyopathy and the importance of genetic diagnosis in guiding prognosis and care for these individuals.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytae377","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T02:41:39Z","timestamp":1722480099000},"source":"Crossref","is-referenced-by-count":3,"title":["Case report: severe hypertrophic cardiomyopathy in a female neonate caused by <i>de novo<\/i> variant in <i>NDUFB11<\/i>"],"prefix":"10.1093","volume":"8","author":[{"given":"Javeria","family":"Tariq","sequence":"first","affiliation":[{"name":"Medical College, Aga Khan University , Karachi , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeleine","family":"Townsend","sequence":"additional","affiliation":[{"name":"Children\u2019s Institute Department of Heart, Vascular, and Thoracic, Cleveland Clinic , Cleveland, OH , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumit","family":"Parikh","sequence":"additional","affiliation":[{"name":"Center for Pediatric Neurosciences, Cleveland Clinic , 9500 Euclid Ave, M41, Cleveland, OH, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3665-5661","authenticated-orcid":false,"given":"Jeffrey","family":"Bennett","sequence":"additional","affiliation":[{"name":"Children\u2019s Institute Department of Heart, Vascular, and Thoracic, Cleveland Clinic , Cleveland, OH , USA"},{"name":"Center for Personalized Genetic Healthcare, Cleveland Clinic , Cleveland, OH , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,7,31]]},"reference":[{"key":"2024080909114523800_ytae377-B1","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/S0195-668X(02)00387-1","article-title":"Cardiomyopathy in children with mitochondrial disease: clinical course and cardiological findings","volume":"24","author":"Holmgren","year":"2003","journal-title":"Eur Heart J"},{"key":"2024080909114523800_ytae377-B2","doi-asserted-by":"crossref","first-page":"798353","DOI":"10.3389\/fmolb.2021.798353","article-title":"The mysterious multitude: structural perspective on the accessory subunits of respiratory Complex I","volume":"8","author":"Padavannil","year":"2021","journal-title":"Front Mol Biosci"},{"key":"2024080909114523800_ytae377-B3","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1016\/j.bbabio.2016.03.031","article-title":"Unraveling the complexity of mitochondrial Complex I assembly: a dynamic process","volume":"1857","author":"Sanchez-Caballero","year":"2016","journal-title":"Biochim Biophys Acta"},{"key":"2024080909114523800_ytae377-B4","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/j.bbabio.2011.08.010","article-title":"Understanding mitochondrial Complex I assembly in health and disease","volume":"1817","author":"Mimaki","year":"2012","journal-title":"Biochim Biophys Acta"},{"key":"2024080909114523800_ytae377-B5","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.3390\/ijms24021743","article-title":"A novel mutation associated with neonatal lethal cardiomyopathy leads to an alternative transcript expression in the X-linked Complex I NDUFB11 gene","volume":"24","author":"Amate-Garcia","year":"2023","journal-title":"Int J Mol Sci"},{"key":"2024080909114523800_ytae377-B6","doi-asserted-by":"crossref","first-page":"50311","DOI":"10.1074\/jbc.M209166200","article-title":"Definition of the nuclear encoded protein composition of bovine heart mitochondrial Complex I. 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