CMT 1A: Left Ventricular Hypertrabeculation/Noncompaction with PMP22 Duplication

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Cardiology. 2006 Jan 30;105(3):142-145

Left Ventricular Hypertrabeculation/Noncompaction with PMP22

Duplication-Based Charcot-Marie-Tooth Disease Type 1A.

Corrado G, Checcarelli N, Santarone M, Stollberger C, Finsterer J.

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

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.