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Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A
Giovanni Corrado1, Nicoletta Checcarelli, Mauro Santarone
1Unita Operativa di Cardiologia, Ospedale Valduce, Como, Italy.
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.
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