INCIDENCE AND NATURAL HISTORY OF LEFT
VENTRICULAR NON-COMPACTION PRESENTING DURING CHILDHOOD. P. Daubeney*, A. Nugent, P.
Chondros, L. Wilkinson, A.M. Davis, S. Kleinert, C.W. Chow, J.L. Wilkinson, R.
Weintraub. Departments of Cardiology,
Clinical Epidemiology & Biostatistics, and Anatomic Pathology, Royal
Children's Hospital, Melbourne, Vic. Left-ventricular non-compaction (LVNC) has previously been considered a
rare medical curiosity whose cause and outcome are unknown. This review examines the clinical features
and outcomes for children with LVNC who were enrolled in the National
Australian Childhood Cardiomyopathy Study. This is an ongoing population-based
study which includes all children within Australia with primary cardiomyopathy
who presented at 0-10 years of age. The
diagnosis was based on the presence of characteristic honeycomb or spongiform
appearance of ventricular myocardium on echocardiography, angiography, cardiac
MRI or direct examination. The
prognostic factors sought included age at presentation, gender, dominant
pathophysiology (DCM or RCM), ventricular systolic dysfunction at presentation,
number of affected myocardial segments and presence of Barth syndrome. A total of 21 patients were identified,
representing 6.5% of the NACCS study population. The diagnosis was made from echocardiography in 21, ventricular
angiography in 11, cardiac MRI in 1 and direct examination
(transplant/post-mortem) in 4. The median
age at presentation was 0.4 years (range 1 day - 9.7 years). CHF was the presenting symptom in 17/21
(81%) and 14 patients (67%) presented prior to 12 months of age. Barth syndrome was present in 5/21
(24%). The dominant pathophysiology was
DCM in 16 (76%), RCM in 4 (19%) with one child (5%) having normal cardiac
function. Survival free from cardiac
transplantation was 55% at 10 years of age and 30% after 15 years. Survival
free from late cardiac dysfunction (defined by death, transplant, FS<25% or
arrhythmias requiring therapy) was 35% at 10 years and 15% at 16 years. Barth syndrome was the only variable related
to outcome. Children with Barth
syndrome had a superior 10 year survival (100% vs 25%) and freedom from cardiac
dysfunction (75% vs 12%; P<.02 for both) compared to the remaining study
population. We conclude that LVNC is
more frequent than previously recognised.
Patients without Barth syndrome have a poor prognosis and merit early
consideration of cardiac transplantation.
