ABSTRACT
AIM: To describe the physical activity (PA) of children with congenital heart disease (CHD) according to different assessment methods and compare their results with the World Health Organization (WHO) recommendations. METHODS: A systematic review was conducted using five databases. We included cross-sectional, longitudinal, observational studies and clinical trials in a paediatric population with CHD. In publications with indirect measurement, the score in each dimension was considered. Similarly, moderate-to-vigorous PA (MVPA) was considered as the main outcome in articles with direct measurement. RESULTS: A total of 1103 articles were found, and 16 primary articles were considered. Eight articles evaluated PA with indirect methods, six with direct methods and two used both methods, representing 1649 subjects evaluated. It was found that 46% of children with CHD do not exceed WHO recommendations for MVPA, with no differences depending on the severity of CHD. CONCLUSION: There are a variety of ways to measure PA in children with CHD. In the articles that objectively evaluated PA, the most measured outcome was the MVPA, which shows that the MVPA time was shorter in about half of the children with CHD than what is recommended by WHO.
Subject(s)
Exercise , Heart Defects, Congenital , Child , Cross-Sectional Studies , Databases, Factual , Humans , World Health OrganizationABSTRACT
We report the case of a 14 years and 8 months girl, who is the first child of nonconsanguineous parents, with short stature, obstructive hypertrophic cardiomyopathy, multiple facial lentigines, high and wide forehead, downslanting palpebral fissures, low-set ears, short neck, and pectus excavatum; all features suggestive of Noonan syndrome with multiple lentigines (NSML). In addition, the patient exhibited craniosynostosis. Molecular analysis of rats sarcoma (RAS)/mitogen-activated protein kinase (MAPK) pathway genes with high-resolution melting curve analysis followed by sequencing showed a RAF1 amino acid substitution of valine to glycine at position 263 (p.V263G). The present report provides clinical data regarding the first association of a RAF1 variant and craniosynostosis in a patient with clinical diagnosis of NSML.
