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(Circulation. 2008;117:2847-2849.)
© 2008 American Heart Association, Inc.

Editorial

Sarcomere Mutations in Cardiomyopathy, Noncompaction, and the Developing Heart

Lisa Dellefave, MS, CGC; Elizabeth M. McNally, MD, PhD

From the Department of Medicine, Department of Human Genetics, University of Chicago, Chicago, Ill.

Correspondence to E.M. McNally, MD, PhD, The University of Chicago, 5841 S. Maryland Ave, MC6088, Chicago, IL 60637. E-mail emcnally@uchicago.edu

Key Words: Editorials • cardiomyopathy • genes • genetics • sarcomere

An extract of the first 250 words of the full text is provided, because this article has no abstract.

	Introduction

 
In this issue of Circulation, Klaassen and colleagues¹ describe mutations in the genes encoding myosin heavy chain (MHC), cardiac actin, and troponin T in patients with left ventricular noncompaction (LVNC). LVNC, defined as excessive and unusual trabeculation of the mature left ventricle, is thought to reflect a developmental failure of the heart to form fully the compact myocardium during the later stages of cardiac development. Previously, mutations in sarcomeric genes have been linked extensively to the development of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). The finding of similar, but not identical, mutations in patients with LVNC suggests a continuum of cardiomyopathy that includes LVNC and further supports the essential role for normal sarcomere function during cardiac development.

Article p 2893

Noncompaction of the ventricular myocardium is characterized by a spongy morphological appearance of the myocardium occurring primarily in the left ventricle and most evident in the apical portion.² Noncompaction often is visualized as deep recesses within the thickened apex, and these sinusoids communicate with the ventricular cavity. During heart development, the myocardium is initially trabeculated during a period before coronary artery development and is thought to be an adaptation to provide blood flow to the developing myocardium. The development of the coronary vasculature is associated temporally with the loss of trabeculae and the full maturation of the compact myocardium. Between embryonic weeks 5 and 8, the trabeculae regress as the compact myocardium develops from base to apex. Isolated LVNC is defined as occurring in the absence of other . . . [Full Text of this Article]

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