{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T05:23:57Z","timestamp":1731043437312,"version":"3.28.0"},"reference-count":15,"publisher":"Texas Heart Institute Journal","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:p>Charcot-Marie-Tooth disease comprises a vast array of defects in myelin integrity that causes progressive peripheral sensorimotor neuropathy. It is the most prevalent inherited peripheral neuropathy, and it can affect the management of coexisting medical conditions. We report the case of a 25-year-old woman who had undergone successful Fontan surgery during childhood, but her Fontan circulation failed as a result of diaphragmatic paresis caused by Charcot-Marie-Tooth disease type 1A. This diagnosis precluded cardiac transplantation.<\/jats:p>","DOI":"10.14503\/thij-17-6337","type":"journal-article","created":{"date-parts":[[2018,10,11]],"date-time":"2018-10-11T20:28:28Z","timestamp":1539289708000},"page":"270-272","source":"Crossref","is-referenced-by-count":2,"title":["Fontan Failure Secondary to Charcot-Marie-Tooth\u2013Induced Phrenic Neuropathy"],"prefix":"10.14503","volume":"45","author":[{"given":"Temilola Y.","family":"Abdul","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew E.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Cetta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Driscoll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5628","reference":[{"article-title":"Charcot-Marie-Tooth disease [Internet]","year":"2015","key":"i1526-6702-45-4-270-b1","unstructured":"U.S. Department of Health & Human Services, National Institutes of Health, U.S. National Library of Medicine, Genetics Home Reference. \n          Charcot-Marie-Tooth disease [Internet]. Available from: https:\/\/ghr.nlm.nih.gov\/condition\/charcot-marie-tooth-disease#statistics [2015Dec; cited 2017 Apr 14]."},{"key":"i1526-6702-45-4-270-b2","series-title":"GeneReviews\u00ae [Internet]","article-title":"Charcot-Marie-Tooth (CMT) hereditary neuropathy overview","year":"1993\u20132018","unstructured":"Bird\n              TD.\n            \n          \n          Charcot-Marie-Tooth (CMT) hereditary neuropathy overview. GeneReviews\u00ae [Internet]. In: AdamMP, ArdingerHH, PagonRA, WallaceSE, editors. Seattle (WA): University of Washington, Seattle; 1993\u20132018. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1358\/ [1998Sep28; updated 2018 Jun 28]."},{"issue":"2","key":"i1526-6702-45-4-270-b3","series-title":"Pediatr Res","first-page":"159","article-title":"Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity","volume":"45","year":"1999","unstructured":"Lupski\n              JR.\n            \n          \n          Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity. Pediatr Res1999;45(2):159\u201365."},{"issue":"3","key":"i1526-6702-45-4-270-b4","series-title":"Neuromolecular Med","first-page":"540","article-title":"Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease","volume":"16","year":"2014","unstructured":"Bergamin\n              G\n            , BoarettoF, BrianiC, PegoraroE, CacciavillaniM, MartinuzziA, \n          et al. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. Neuromolecular Med2014;16(3):540\u201350."},{"issue":"Pt 2","key":"i1526-6702-45-4-270-b5","series-title":"Brain","first-page":"222","article-title":"Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy","volume":"123","year":"2000","unstructured":"Kamholz\n              J\n            , MenichellaD, JaniA, GarbernJ, LewisRA, KrajewskiKM, \n          et al. Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain2000;123(Pt 2):222\u201333."},{"issue":"4","key":"i1526-6702-45-4-270-b6","series-title":"Muscle Nerve","first-page":"604","article-title":"Inherited neuropathies: clinical overview and update","volume":"48","year":"2013","unstructured":"Klein\n              CJ\n            , DuanX, ShyME.\n          Inherited neuropathies: clinical overview and update. Muscle Nerve2013;48(4):604\u201322."},{"issue":"1","key":"i1526-6702-45-4-270-b7","series-title":"Lung","first-page":"1","article-title":"Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease","volume":"185","year":"2007","unstructured":"Aboussouan\n              LS\n            , LewisRA, ShyME.\n          Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease. Lung2007;185(1):1\u20137."},{"issue":"10","key":"i1526-6702-45-4-270-b8","series-title":"Am J Phys Med Rehabil","first-page":"754","article-title":"Electrodiagnostic evidence of phrenic nerve demyelination in Charcot-Marie-Tooth disease 1A","volume":"82","year":"2003","unstructured":"Sagliocco\n              L\n            , OrlandiG, CalabreseR, PellegrinettiA, BagliniO, CastelliF, \n          et al. Electrodiagnostic evidence of phrenic nerve demyelination in Charcot-Marie-Tooth disease 1A. Am J Phys Med Rehabil2003;82(10):754\u20139."},{"issue":"15","key":"i1526-6702-45-4-270-b9","series-title":"J Am Coll Cardiol","first-page":"1711","article-title":"The Fontan operation: improved outcomes, uncertain future","volume":"66","year":"2015","unstructured":"Goldberg\n              DJ.\n            \n          \n          The Fontan operation: improved outcomes, uncertain future. J Am Coll Cardiol2015;66(15):1711\u20133."},{"issue":"4","key":"i1526-6702-45-4-270-b10","series-title":"Cardiol Clin","first-page":"559","article-title":"Fontan repair of single ventricle physiology: consequences of a unique physiology and possible treatment options","volume":"33","year":"2015","unstructured":"John\n              AS.\n            \n          \n          Fontan repair of single ventricle physiology: consequences of a unique physiology and possible treatment options. Cardiol Clin2015;33(4):559\u201369, viii."},{"issue":"4","key":"i1526-6702-45-4-270-b11","series-title":"Eur J Cardiothorac Surg","first-page":"561","article-title":"Paralysis of the phrenic nerve as a risk factor for suboptimal Fontan hemodynamics","volume":"27","year":"2005","unstructured":"Ovroutski\n              S\n            , Alexi-MeskishviliV, StillerB, EwertP, Abdul-KhaliqH, LemmerJ, \n          et al. Paralysis of the phrenic nerve as a risk factor for suboptimal Fontan hemodynamics. Eur J Cardiothorac Surg2005;27(4):561\u20135."},{"issue":"4","key":"i1526-6702-45-4-270-b12","series-title":"Thorac Surg Clin","first-page":"501","article-title":"Acquired paralysis of the diaphragm","volume":"19","year":"2009","unstructured":"Ko\n              MA\n            , DarlingGE.\n          Acquired paralysis of the diaphragm. Thorac Surg Clin2009;19(4):501\u201310."},{"issue":"3","key":"i1526-6702-45-4-270-b13","series-title":"Nutr Clin Pract","first-page":"375","article-title":"Protein-losing enteropathy and the Fontan operation","volume":"27","year":"2012","unstructured":"Johnson\n              JN\n            , DriscollDJ, O'LearyPW.\n          Protein-losing enteropathy and the Fontan operation. Nutr Clin Pract2012;27 (3):375\u201384."},{"issue":"3","key":"i1526-6702-45-4-270-b14","series-title":"Semin Respir Crit Care Med","first-page":"315","article-title":"Diaphragm paralysis","volume":"30","year":"2009","unstructured":"Qureshi\n              A.\n            \n          \n          Diaphragm paralysis. Semin Respir Crit Care Med2009;30(3):315\u201320."},{"issue":"15","key":"i1526-6702-45-4-270-b15","series-title":"J Am Coll Cardiol","first-page":"1700","article-title":"40-year follow-up after the Fontan operation: long-term outcomes of 1,052 patients","volume":"66","year":"2015","unstructured":"Pundi\n              KN\n            , JohnsonJN, DearaniJA, PundiKN, LiZ, HinckCA, \n          et al. 40-year follow-up after the Fontan operation: long-term outcomes of 1,052 patients. 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