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Noncompaction of the myocardium associated with Roifman syndrome

Published online by Cambridge University Press:  15 August 2006

Karen Mandel
Affiliation:
Department of Paediatrics, Divisions of Allergy/Immunology, University of Toronto School of Medicine, Toronto, Canada
Eyal Grunebaum
Affiliation:
Department of Paediatrics, Divisions of Allergy/Immunology, University of Toronto School of Medicine, Toronto, Canada
Lee Benson
Affiliation:
Cardiology, The Hospital for Sick Children, University of Toronto School of Medicine, Toronto, Canada

Abstract

Noncompaction of the ventricular myocardium, sometimes referred to as “spongy myocardium”, appears as excessive and prominent trabeculations and deep intratrabecular recesses within the ventricular wall, usually involving the left ventricle, although the right ventricle and interventricular septum can also be affected. It may occur with or without additional heart malformations. Roifman syndrome is a constellation of antibody deficiency, spondyloepiphyseal dysplasia, facial dysmorphism, growth retardation, and retinal dystrophy. We report a patient with Roifman syndrome who presented with noncompaction of the left ventricular myocardium. Our findings expand the spectrum of diseases associated with noncompaction. The recognition of noncompaction among patients with Roifman syndrome is important, as the immune deficiencies may be subtle and undiagnosed until adulthood. Thus, some patients may first present with cardiac failure.

Type
Brief Report
Copyright
2001 Cambridge University Press

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