title: Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A.
abstract: A 50-year-old women with Charcot-Marie-Tooth hereditary neuropathy type 1A due to the PMP22 duplication on chromosome 17p11.2-12 developed a left bundle branch block and progressive dilatation of the left ventricle since age 40 years and recurrent heart failure since age 44 years. At age 50 years left ventricular hypertrabeculation/noncompaction was first recognized on transthoracic echocardiography. A possible causal relation between the cardiac abnormalities and the PMP22 duplication is discussed.
authors.affiliation: Unita Operativa di Cardiologia, Ospedale Valduce, Como, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corrado
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Checcarelli
authors.forename: Mauro
authors.initials: M
authors.lastname: Santarone
authors.forename: Claudia
authors.initials: C
authors.lastname: Stollberger
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
mesh_terms: D002037:Bundle-Branch Block / Q000235:genetics; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002886:Chromosomes, Human, Pair 17; D005260:Female; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease; D006333:Heart Failure / Q000235:genetics; D006339:Heart Rate / Q000235:genetics; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D013318:Stroke Volume / Q000235:genetics
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human