Abstract
Aortic dilation and dissection are well-recognized cardiac abnormalities in women with Turner syndrome (TS), although the underlying pathophysiology is not fully understood. We report on a 46-year-old Hispanic woman who was previously diagnosed with moyamoya disease on magnetic resonance imaging after a presentation with stroke-like symptoms. Her features were consistent with TS and chromosome analysis revealed mosaicism in which 17% of the cells showed a pseudoisodicentric Y chromosome: 45,X (25)/46,X psu idic (Y)(11.2) (5). A preceding screening transthoracic echocardiogram had shown a bicuspid aortic valve (BAV) with an aortic diameter of 3.2 cm; at the time of moyamoya diagnosis, the aorta was 3.5 cm with mild aortic stenosis and mild aortic regurgitation. Four years later, the patient had had an acute aortic dissection, Stanford type A, which was repaired successfully. This case report is the third individual with TS associated with moyamoya disease and the first associated with dissection. The small number of cases does not allow detailed analysis other than noting patient age (two older than 40 years), karyotype (two others associated with isochrome Xq), and associated cardiac risk factors (one with BAV). Although this m...Continue Reading
References
Feb 11, 1999·American Journal of Human Genetics·H IkedaT Arinami
Apr 11, 2000·Journal of Child Neurology·T K InoueM Fukui
Aug 10, 2000·Acta neurochirurgica·T TeradaT Itakura
Feb 13, 2001·Clinical Endocrinology·M ElsheikhJ A Wass
Feb 5, 2004·Journal of Neurosurgery·R Michael ScottMark A Rockoff
Sep 9, 2004·Circulation·Vincent B HoCarolyn A Bondy
Jun 30, 2005·The Journal of Clinical Endocrinology and Metabolism·Julia E OstbergGerard S Conway
Nov 3, 2005·Pediatrics·Andrew JeaR Michael Scott
Dec 22, 2005·The Annals of Thoracic Surgery·Ryan R DaviesJohn A Elefteriades
Jul 20, 2006·The Journal of Clinical Endocrinology and Metabolism·Kirstine StochholmClaus Højbjerg Gravholt
Sep 21, 2006·Cardiology in the Young·Claus Højbjerg GravholtJens Sandahl Christiansen
Sep 22, 2006·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·K SpengosV Zis
Oct 19, 2006·The Journal of Clinical Endocrinology and Metabolism·Carolyn A Bondy, UNKNOWN Turner Syndrome Study Group
Nov 18, 2006·Developmental Medicine and Child Neurology·Siobhan L WestPeter D Arkwright
Mar 21, 2007·Neurology·N J UllrichS L Pomeroy
Sep 18, 2007·Journal of Medical Genetics·M Carlson, M Silberbach
Sep 19, 2007·Circulation·Lea Ann MaturaCarolyn A Bondy
Mar 21, 2008·Journal of Neurosurgery. Pediatrics·Todd C HankinsonRichard C E Anderson
May 9, 2008·Neurology·Y MineharuA Koizumi
May 10, 2008·Journal of the American College of Cardiology·Vandana SachdevCarolyn A Bondy
Jun 12, 2008·Annual Review of Genomics and Human Genetics·Dianna M MilewiczHariyadarshi Pannu
Oct 8, 2008·Current Opinion in Cardiology·Carolyn A Bondy
Oct 23, 2008·Lancet Neurology·Satoshi Kuroda, Kiyohiro Houkin
Mar 20, 2009·The New England Journal of Medicine·R Michael Scott, Edward R Smith
May 5, 2009·American Journal of Human Genetics·Dong-Chuan GuoDianna M Milewicz
Citations
Jan 31, 2012·Interactive Cardiovascular and Thoracic Surgery·Juan-Pablo MaureiraJean-Pierre Villemot
Oct 10, 2013·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Sunil ManjilaMichael A De Georgia
Apr 29, 2016·Journal of Forensic Sciences·Roger W Byard
Oct 19, 2019·Birth Defects Research·Paul KruszkaMaximilian Muenke
Jun 3, 2014·International Journal of Adolescent Medicine and Health·Sze Choong WongMargaret Zacharin
Jun 19, 2012·Endocrine Reviews·Kristian H MortensenClaus H Gravholt
Jan 1, 2020·Molecular Cytogenetics·Yang Yang, Wang Hao