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

Giovanni Corrado·Nicoletta Checcarelli·Mauro Santarone·Claudia Stollberger·Josef Finsterer
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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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Bundle-Branch BlockCardiomyopathy, DilatedCharcot-Marie-Tooth DiseaseChromosomes, Human, Pair 17FemaleGene DuplicationGenetic Predisposition to DiseaseHeart FailureHeart RateHumansHypertrophy, Left VentricularMiddle AgedMyelin ProteinsStroke VolumeCase ReportsJournal Article

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Giovanni Corrado, Nicoletta Checcarelli, Mauro Santarone, Claudia Stollberger, Josef Finsterer. 2006-01-30. Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A.. https://doi.org/10.1159/000091152

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