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Acta Cardiol. 2009 Feb;64(1):99-103.

Isolated left ventricular hypertrabeculation/noncompaction in a Turner mosaic with male phenotype.

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  • 1Universitätsklinik für Innere Medizin, Kardiologie, Internistiche Intensivmedizin, Paracelsus Medizinische Privatuniversität Salzburg, Austria.



Left ventricular hypertrabeculation (LVHT), also known as noncompaction, has been previously reported in a female patient with Turner syndrome (TS) with X0-karyotype, but has not been described in a male patient with a Turner mosaic.


In a 45-year-old man with short stature, facial dysmorphism, cryptorchism, hypospadia, but normal intellectual performance, TS was diagnosed upon cytogenetic evaluation and fluorescence in-situ hybridization revealing the karyotype mos45,X(28)/46,X,+mar(21)/47,X, + 2 mar(1). During an episode of heart failure at age 41 LVHT was detected in the posterolateral region on echocardiography also showing a slightly dilated left ventricle, severely reduced systolic function, and a moderate mitral and tricuspid insufficiency. On cardiac MRI LVHT was additionally seen in the lateral and anterior regions. Under adequate therapy, heart failure completely resolved but LVHT persisted.


LVHT may also occur in association with a mosaic TS with male phenotype. In such patients LVHT may not be accompanied by other congenital cardiac abnormalities but may be associated with severe cardiomyopathy resulting in rhythm abnormalities and heart failure.

[PubMed - indexed for MEDLINE]
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