| Literature DB >> 30374244 |
Temilola Y Abdul, Andrew E Schneider, Frank Cetta, David J Driscoll.
Abstract
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.Entities:
Keywords: Charcot-Marie-Tooth disease/complications/genetics/physiopathology; Fontan procedure/adverse effects; diaphragm/innervation; heart defects, congenital/complications/surgery; muscular atrophy/genetics; muscular weakness/etiology; phrenic nerve/injuries; postoperative complications/epidemiology; respiratory paralysis/etiology; time factors
Mesh：
Year: 2018 PMID： 30374244 PMCID： PMC6183634 DOI： 10.14503/THIJ-17-6337
Source DB: PubMed Journal: Tex Heart Inst J ISSN： 0730-2347