Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.

Homozygous familial hypercholesterolemia (hoFH) is caused by mutations in the low-density lipoprotein receptor gene and is characterized by severe hypercholesterolemia from birth and onset of premature cardiovascular disease (CVD) during childhood. The onset and progression of CVD using currently available testing methods in children with hoFH have not been fully characterized. A large cohort of patients with hoFH referred to our subspecialty clinic was studied.

Contemporary outcomes after the Fontan procedure: a Pediatric Heart Network multicenter study.

Objectives: We characterized a large cohort of children who had a Fontan procedure, with measures of functional health status, ventricular size and function, exercise capacity, heart rhythm, and brain natriuretic peptide (BNP).

Background: The characteristics of contemporary Fontan survivors are not well described.

Methods: We enrolled 546 children (age 6 to 18 years, mean 11.

Prevalence and risk factors for tricuspid valve regurgitation after pediatric heart transplantation.

Background: Risk factors for tricuspid regurgitation (TR) after adult orthotopic heart transplantation (OHT) have been reported, although there are no pediatric data.

Methods: This study was a single-center retrospective analysis of patients View Article and Find Full Text PDF

Epidemiologic features of the presentation of critical congenital heart disease: implications for screening.

Objective: Critical congenital heart disease has been proposed as a target of newborn screening. This study aimed to define the incidence and timing of significant physiologic compromise attributable to critical congenital heart disease as well as the distribution of vulnerable lesions. These descriptive parameters must be defined to evaluate the impact and feasibility of any proposed screening strategy.

Physical activity levels in children and adolescents are reduced after the Fontan procedure, independent of exercise capacity, and are associated with lower perceived general health.

Objectives: To determine physical activity levels in paediatric patients who underwent the Fontan procedure, and their relationship to functional status and exercise capacity.

Study Design: We studied 147 patients (ages 7-18 years) at a median of 8.1 years after Fontan, as part of the Pediatric Heart Network cross-sectional study of Fontan survivors.

Design of a large cross-sectional study to facilitate future clinical trials in children with the Fontan palliation.

Background: Clinical trials in children with congenital heart disease are often limited by the absence of the following: (1) a primary outcome that can be observed in a reasonable period; (2) information regarding health-related quality of life; (3) knowledge of the correlation between health status and ventricular function and exercise performance; (4) a sufficient number of children at a single institution to provide adequate statistical power; and (5) procedural and management differences between and within institutions.

Methods: The NHLBI-funded Pediatric Heart Network designed a cross-sectional study of children aged 6 to 18 years, from 7 pediatric clinical centers, who had undergone a Fontan procedure as treatment for congenital heart disease. Health-related quality of life was measured by the Child Health Questionnaire and the Congenital Heart Adolescent and Teenager Questionnaire.

Impact of re-coarctation following the Norwood operation on survival in the balloon angioplasty era.

Objectives: The objective of this study was to determine the efficacy of balloon angioplasty (BA) by comparing the immediate and long-term outcomes of patients with and without re-coarctation after a Norwood procedure.

Background: Although BA has become the standard means for treating recurrent coarctation following a Norwood operation, it has been suggested that re-coarctation remains a significant cause of morbidity and mortality.

Methods: Patients who survived a Norwood operation from December 1986 through June 2001 were studied.

Parent-reported health status after pediatric thoracic organ transplant.

Background: Thoracic organ transplantation is a life-changing event for a child and family from both a physical and a psychosocial perspective. Accurate pre-transplantation counseling and effective post-transplantation follow-up depend on a good understanding of post-transplantation health status, especially as perceived by families.

Methods: The Child Health Questionnaire-Parent Form 50 (CHQ-P50), an instrument that assesses parent-reported health status of pediatric patients, was administered to 47 pediatric thoracic organ transplant recipients (41 heart, 6 lung) 5 to 18 years of age.

Using health-related quality of life measures to predict cardiac function in survivors exposed to anthracyclines.

Purpose: As the number of pediatric cancer survivors increases, so does the number of survivors previously exposed to anthracyclines as part of their cancer therapy. Because screening is costly, some have suggested that health-related quality of life (HRQL) measures might be useful in focusing screening tests on those patients with cases most likely to display positive findings. This study reports on the predictive ability of HRQL measures to detect patients with abnormalities on serial cardiac testing.

Enalapril to prevent cardiac function decline in long-term survivors of pediatric cancer exposed to anthracyclines.

Purpose: To determine whether an angiotensin-converting enzyme (ACE) inhibitor, enalapril, prevents cardiac function deterioration (defined using maximal cardiac index [MCI] on exercise testing or increase in left ventricular end-systolic wall stress [LVESWS]) in long-term survivors of pediatric cancer.

Patients And Methods: This was a randomized, double-blind, controlled clinical trial comparing enalapril to placebo in 135 long-term survivors of pediatric cancer who had at least one cardiac abnormality identified at any time after anthracycline exposure.

Results: There was no difference in the rate of change in MCI per year between enalapril and placebo groups (0.

Pneumatosis intestinalis after pediatric thoracic organ transplantation.

Objective: To review and describe pneumatosis intestinalis (PI) in children who have undergone thoracic organ transplantation and evaluate potential risk factors.

Methods: We retrospectively reviewed abdominal radiographs obtained from June 1992 through September 2000 in all pediatric (age <21 years) thoracic organ recipients who survived at least 1 week after transplantation. In this group, a case was defined as an episode of radiographically confirmed PI; those without PI were assigned as controls.

Muscle fatigue: the role of metabolism.

This paper examined the role of metabolites in causing muscle fatigue. Previous studies have shown that Pi (H2PO4-, HPO4-2) and H+ may be important factors in causing fatigue. A key question is the potential interaction between metabolic end-products and calcium related excitation-contraction coupling fatigue (ECC).

Use of extracorporeal membrane oxygenation in pediatric thoracic organ transplantation.

Objective: Mechanical cardiorespiratory support is occasionally required before or after pediatric thoracic organ transplantation. Extracorporeal membrane oxygenation is the most commonly used mechanical support technique in children. The goal of this study was to examine the indications for initiation and outcomes after peritransplant use of extracorporeal membrane oxygenation.