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(Circulation. 2003;108:2672.)
© 2003 American Heart Association, Inc.

Clinical Investigation and Reports

Clinical Characterization of Left Ventricular Noncompaction in Children

A Relatively Common Form of Cardiomyopathy

Ricardo H. Pignatelli, MD^*; Colin J. McMahon, MB, MRCPI^*; William J. Dreyer, MD; Susan W. Denfield, MD; Jack Price, MD; John W. Belmont, MD; William J. Craigen, MD; Jen Wu, MD; Howaida El Said, MD; Louis I. Bezold, MD; Sarah Clunie, RN; Susan Fernbach, RN; Neil E. Bowles, PhD; Jeffrey A. Towbin, MD

From Lillie Frank Ambercrombie Division of Pediatric Cardiology, Texas Children’s Hospital and Baylor College of Medicine (R.H.P., C.J.M., W.J.D., S.W.D., J.P., J.W., H.E.S., L.I.B., S.C., S.F., N.E.B., J.A.T.), and the Department of Molecular and Human Genetics, Baylor College of Medicine (J.W.B., W.J.C., J.A.T.), Houston, Tex.

Correspondence to Jeffrey A. Towbin, MD, Lillie Frank Abercrombie Section of Pediatric Cardiology, Texas Children’s Hospital, 6621 Fannin, Houston 77030, TX. E-mail jtowbin{at}bcm.tmc.edu

Received May 6, 2003; revision received August 21, 2003; accepted August 22, 2003.

Background— Left ventricular noncompaction (LVNC) is a reportedly uncommon genetic disorder of endocardial morphogenesis with a reportedly high mortality rate. The purpose of this study was to identify the clinical characteristics of children with LVNC.

Methods and Results— We retrospectively reviewed 36 children with LVNC evaluated at Texas Children’s Hospital (TCH) from January 1997 to December 2002. Five children had associated cardiac lesions. There were 16 girls and 20 boys. The median age at presentation was 90 days (range, 1 day to 17 years). The median duration of follow-up was 3.2 years (range, 0.5 to 12 years). Twenty-seven patients (75%) had ECG abnormalities, most commonly biventricular hypertrophy (10 patients, 28%). Both ventricles were involved in 8 patients (22%) and only the left ventricle in 28 patients (78%). Left ventricular systolic function was depressed in 30 patients (83%), with a median ejection fraction of 30% (range, 15% to 66%) at diagnosis. Nine patients presenting in the first year of life with depressed left ventricular contractility had a transient recovery of function; however, ejection fraction deteriorated later in life, at a median interval of 6.3years (range, 3 to 12 years). Two patients had an "undulating" phenotype from dilated to hypertrophic cardiomyopathy. Two patients (6%) were identified with an underlying G4.5 gene mutation. Five patients (14%) died during the study.

Conclusions— LVNC does not have an invariably fatal course when diagnosed in the neonatal period. A significant number of patients have transient recovery of function followed by later deterioration, which may account for many patients presenting as adults, some manifesting an "undulating" phenotype.

Key Words: ventricles • myocardium • cardiomyopathy

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