Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A

Giovanni Corrado; Nicoletta Checcarelli; Mauro Santarone; Claudia Stollberger; Josef Finsterer

doi:10.1159/000091152

Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A

Cardiology. 2006;105(3):142-5. doi: 10.1159/000091152. Epub 2006 Jan 30.

Authors

Giovanni Corrado¹, Nicoletta Checcarelli, Mauro Santarone, Claudia Stollberger, Josef Finsterer

Affiliation

¹ Unita Operativa di Cardiologia, Ospedale Valduce, Como, Italy.

PMID: 16449811
DOI: 10.1159/000091152

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.

Publication types

Case Reports

MeSH terms

Bundle-Branch Block / genetics
Cardiomyopathy, Dilated / genetics
Charcot-Marie-Tooth Disease / complications
Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / physiopathology
Chromosomes, Human, Pair 17
Female
Gene Duplication*
Genetic Predisposition to Disease
Heart Failure / genetics
Heart Rate / genetics
Humans
Hypertrophy, Left Ventricular / etiology
Hypertrophy, Left Ventricular / genetics*
Hypertrophy, Left Ventricular / physiopathology
Middle Aged
Myelin Proteins / genetics*
Stroke Volume / genetics

Substances

Myelin Proteins
PMP22 protein, human