Left ventricular non-compaction cardiomyopathy

JA Towbin, A Lorts, JL Jefferies - The Lancet, 2015 - thelancet.com
Left ventricular non-compaction, the most recently classified form of cardiomyopathy, is
characterised by abnormal trabeculations in the left ventricle, most frequently at the apex. It …

Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism

JA Towbin, JL Jefferies - Circulation research, 2017 - Am Heart Assoc
The normal function of the human myocardium requires the proper generation and utilization
of energy and relies on a series of complex metabolic processes to achieve this normal …

Dilated cardiomyopathy

JL Jefferies, JA Towbin - The Lancet, 2010 - thelancet.com
Dilated cardiomyopathy is characterised by left ventricular dilation that is associated with
systolic dysfunction. Diastolic dysfunction and impaired right ventricular function can …

Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry

SA Webber, SE Lipshultz, LA Sleeper, M Lu… - Circulation, 2012 - Am Heart Assoc
Background—Restrictive cardiomyopathy (RCM) has been associated with poor prognosis
in childhood. The goal of the present analysis was to use the Pediatric Cardiomyopathy …

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

B Mohapatra, B Casey, H Li… - Human molecular …, 2009 - academic.oup.com
NODAL and its signaling pathway are known to play a key role in specification and
patterning of vertebrate embryos. Mutations in several genes encoding components of the …

Early detection of acute kidney injury after pediatric cardiac surgery

JL Jefferies, P Devarajan - Progress in pediatric cardiology, 2016 - Elsevier
Acute kidney injury (AKI) is increasingly recognized as a common problem in children
undergoing cardiac surgery, with well documented increases in morbidity and mortality in …

Worsening renal function in children hospitalized with decompensated heart failure: evidence for a pediatric cardiorenal syndrome?

JF Price, AR Mott, HA Dickerson… - Pediatric Critical Care …, 2008 - journals.lww.com
Objectives: The purpose of this study was to determine the incidence of renal insufficiency in
children hospitalized with acute decompensated heart failure and whether worsening renal …

Prevalence and progression of late gadolinium enhancement in children and adolescents with hypertrophic cardiomyopathy

A Axelsson Raja, H Farhad, AM Valente, JP Couce… - Circulation, 2018 - Am Heart Assoc
Background: Late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging
(CMR) is believed to represent dense replacement fibrosis. It is seen in≈ 60% of adult …

Association of race with disease expression and clinical outcomes among patients with hypertrophic cardiomyopathy

LA Eberly, SM Day, EA Ashley, DL Jacoby… - JAMA …, 2020 - jamanetwork.com
Importance Racial differences are recognized in multiple cardiovascular parameters,
including left ventricular hypertrophy and heart failure, which are 2 major manifestations of …

[HTML][HTML] New genetic insights into congenital heart disease

SM Ware, JL Jefferies - Journal of clinical & experimental …, 2012 - ncbi.nlm.nih.gov
There has been remarkable progress in understanding the genetic basis of cardiovascular
malformations. Chromosome microarray analysis has provided a new tool to understand the …