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Noncompaction of the myocardium associated with Roifman syndrome.
Cardiol Young 2001; 11(2):240-3CY

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.

Authors+Show Affiliations

Department of Paediatrics, The Hospital for Sick Children. University of Toronto School of Medicine, Ontario, Canada. karen.mandel@sickkids.on.caNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11293748

Citation

Mandel, K, et al. "Noncompaction of the Myocardium Associated With Roifman Syndrome." Cardiology in the Young, vol. 11, no. 2, 2001, pp. 240-3.
Mandel K, Grunebaum E, Benson L. Noncompaction of the myocardium associated with Roifman syndrome. Cardiol Young. 2001;11(2):240-3.
Mandel, K., Grunebaum, E., & Benson, L. (2001). Noncompaction of the myocardium associated with Roifman syndrome. Cardiology in the Young, 11(2), pp. 240-3.
Mandel K, Grunebaum E, Benson L. Noncompaction of the Myocardium Associated With Roifman Syndrome. Cardiol Young. 2001;11(2):240-3. PubMed PMID: 11293748.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Noncompaction of the myocardium associated with Roifman syndrome. AU - Mandel,K, AU - Grunebaum,E, AU - Benson,L, PY - 2001/4/11/pubmed PY - 2001/8/3/medline PY - 2001/4/11/entrez SP - 240 EP - 3 JF - Cardiology in the young JO - Cardiol Young VL - 11 IS - 2 N2 - 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. SN - 1047-9511 UR - https://www.unboundmedicine.com/medline/citation/11293748/Noncompaction_of_the_myocardium_associated_with_Roifman_syndrome_ L2 - http://www.diseaseinfosearch.org/result/6354 DB - PRIME DP - Unbound Medicine ER -