ABSTRACT
BACKGROUND: Despite reports of reduced physical fitness in children with congenital heart disease (CHD), no specific performance evaluations for activities of daily living have been conducted. OBJECTIVES: The aim was to compare the activities of daily living, quality of life, posture, physical fitness and physical activity levels of children with CHD with healthy controls (HC). METHODS: The study included 30 children aged 6-14 diagnosed with moderate or severe CHD and 30 age-sex-matched HC. The sociodemographic and clinical data of the participants were recorded. All participants went through several tests, namely the TGlittre-P test for activities of daily living, the 6-minute walk test (6MWT) for functional capacity, the Fitnessgram test battery for physical fitness, the hand dynamometer for measuring grip strength, the pedometer for measuring physical activity, and both the child and parents reported the Pediatric Quality of Life Inventory (PedsQL) for evaluating the quality of life, in addition to posture analyses. Values of p < 0.05 were considered statistically significant. RESULTS: Individuals with CHD had a longer TGlittre-P test completion time and a shorter 6MWT distance than HC (TGlittre-P: CHD 3.45 [3.24-4.02]min vs. HC 3.10 [2.57-3.23]min, 6MWT: CHD 514.00 [412.50-566.00]m vs. HC 591.50 [533.00-631.00]m). For the CHD group, sit-ups, push-ups, trunk lift, and sit-and-reach test scores within the Fitnessgram battery, grip strength, posture, and quality of life scores were lower than those for the HC group. Physical activity levels were similar in the groups. CONCLUSIONS: The performance of activities of daily living, functional capacity, physical fitness, posture, and quality of life of children with moderate and severe CHD were affected compared to healthy peers.
FUNDAMENTO: Apesar dos relatos de redução da aptidão física em crianças com cardiopatia congênita (CC), não foram realizadas avaliações específicas de desempenho para atividades de vida diária. OBJETIVOS: O objetivo foi comparar as atividades de vida diária, qualidade de vida, postura, aptidão física e níveis de atividade física entre crianças com CC e controles saudáveis (CS). MÉTODOS: O estudo incluiu 30 crianças, de 6 a 14 anos, com diagnóstico de CC moderada ou grave e 30 consideradas CS pareadas por idade e sexo. Os dados sociodemográficos e clínicos dos participantes foram registrados. Todos os participantes realizaram diversos testes: teste de TGlittre-P para atividades de vida diária; teste de caminhada de 6 minutos (TC6M) para capacidade funcional; bateria de testes Fitnessgram para aptidão física; dinamômetro de mão para medir a força de preensão; pedômetro para medir a atividade física; além disso, a criança e os pais completaram o Pediatric Quality of Life Inventory (PedsQL) para avaliação da qualidade de vida, além de análises posturais. Valores de p < 0,05 foram considerados estatisticamente significativos. RESULTADOS: Indivíduos com CC apresentaram um tempo de conclusão do teste TGlittre-P mais longo e uma distância de TC6M mais curta em comparação com o CS (TGlittre-P: CC 3,45 [3,24-4,02] min vs. CS 3,10 [2,57-3,23] min, TC6M: CC 514,00 [412,50-566,00] m vs. CS 591,50 [533,00-631,00] m). Para o grupo CC, os resultados dos testes de sit-ups, flexões, elevação do tronco e sentar e alcançar, dentro da bateria do Fitnessgram, além de força de preensão, postura e qualidade de vida foram menores do que os do grupo CS. Os níveis de atividade física foram semelhantes entre os grupos. CONCLUSÕES: O desempenho das atividades de vida diária, a capacidade funcional, a aptidão física, a postura e a qualidade de vida de crianças com CC moderada e grave foram afetados em comparação com seus pares saudáveis.
Subject(s)
Activities of Daily Living , Heart Defects, Congenital , Humans , Child , Case-Control Studies , Quality of Life , Physical Fitness , Exercise , Heart Defects, Congenital/diagnosisABSTRACT
Introduction: Long QT syndrome (LQTS) is a disorder of ventricular myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram. It increases the risk of ventricular arrhythmias, which can cause syncope or sudden cardiac death. In this study, we study the genotype-phenotype relationships of patients referred to us with suspected arrhythmia syndrome. Methods: Seventeen cases and their twenty relatives were evaluated. Next-generation sequencing analysis was performed for 17 LQTS-related genes. Results: We detected seventeen single nucleotide variants (SNVs) with potential pathogenic significance in 26 of the 36 subjects analyzed. KCNH2 c.172G>A, KCNQ1 c.1768G>A, ANK2 c.4666A>T, c.1484_1485delCT, KCNH2 c.1888G>A were reported as pathogenic or likely pathogenic in HGMD variant classification database. Conclusion: Current study pointed out that early diagnosis can be life-saving for patients and their families by taking family history and detailed examination. Also, we highlight the clinical heterogeneity of arrhythmia syndrome through a patient with a dual phenotype.
ABSTRACT
Resumo Fundamento Apesar dos relatos de redução da aptidão física em crianças com cardiopatia congênita (CC), não foram realizadas avaliações específicas de desempenho para atividades de vida diária. Objetivos O objetivo foi comparar as atividades de vida diária, qualidade de vida, postura, aptidão física e níveis de atividade física entre crianças com CC e controles saudáveis (CS). Métodos O estudo incluiu 30 crianças, de 6 a 14 anos, com diagnóstico de CC moderada ou grave e 30 consideradas CS pareadas por idade e sexo. Os dados sociodemográficos e clínicos dos participantes foram registrados. Todos os participantes realizaram diversos testes: teste de TGlittre-P para atividades de vida diária; teste de caminhada de 6 minutos (TC6M) para capacidade funcional; bateria de testes Fitnessgram para aptidão física; dinamômetro de mão para medir a força de preensão; pedômetro para medir a atividade física; além disso, a criança e os pais completaram o Pediatric Quality of Life Inventory (PedsQL) para avaliação da qualidade de vida, além de análises posturais. Valores de p < 0,05 foram considerados estatisticamente significativos. Resultados Indivíduos com CC apresentaram um tempo de conclusão do teste TGlittre-P mais longo e uma distância de TC6M mais curta em comparação com o CS (TGlittre-P: CC 3,45 [3,24-4,02] min vs. CS 3,10 [2,57-3,23] min, TC6M: CC 514,00 [412,50-566,00] m vs. CS 591,50 [533,00-631,00] m). Para o grupo CC, os resultados dos testes de sit-ups, flexões, elevação do tronco e sentar e alcançar, dentro da bateria do Fitnessgram, além de força de preensão, postura e qualidade de vida foram menores do que os do grupo CS. Os níveis de atividade física foram semelhantes entre os grupos. Conclusões O desempenho das atividades de vida diária, a capacidade funcional, a aptidão física, a postura e a qualidade de vida de crianças com CC moderada e grave foram afetados em comparação com seus pares saudáveis.
Abstract Background Despite reports of reduced physical fitness in children with congenital heart disease (CHD), no specific performance evaluations for activities of daily living have been conducted. Objectives The aim was to compare the activities of daily living, quality of life, posture, physical fitness and physical activity levels of children with CHD with healthy controls (HC). Methods The study included 30 children aged 6-14 diagnosed with moderate or severe CHD and 30 age-sex-matched HC. The sociodemographic and clinical data of the participants were recorded. All participants went through several tests, namely the TGlittre-P test for activities of daily living, the 6-minute walk test (6MWT) for functional capacity, the Fitnessgram test battery for physical fitness, the hand dynamometer for measuring grip strength, the pedometer for measuring physical activity, and both the child and parents reported the Pediatric Quality of Life Inventory (PedsQL) for evaluating the quality of life, in addition to posture analyses. Values of p < 0.05 were considered statistically significant. Results Individuals with CHD had a longer TGlittre-P test completion time and a shorter 6MWT distance than HC (TGlittre-P: CHD 3.45 [3.24-4.02]min vs. HC 3.10 [2.57-3.23]min, 6MWT: CHD 514.00 [412.50-566.00]m vs. HC 591.50 [533.00-631.00]m). For the CHD group, sit-ups, push-ups, trunk lift, and sit-and-reach test scores within the Fitnessgram battery, grip strength, posture, and quality of life scores were lower than those for the HC group. Physical activity levels were similar in the groups. Conclusions The performance of activities of daily living, functional capacity, physical fitness, posture, and quality of life of children with moderate and severe CHD were affected compared to healthy peers.
ABSTRACT
Ectopia cordis is a rare congenital disorder in which the heart is partially or completely located outside the chest cavity. In this article, we present four cases of ectopia cordis accompanied by cardiac abnormalities with either thoracic and/or abdominal placed heart, managed with strategies ranging from follow-up without any intervention to complete surgical closure.
ABSTRACT
Inflammatory myofibroblastic tumor (IMT) is a rare soft tissue tumor of the heart. In the literature, cardiac IMT is often described as an endocardial-based cavitary mass originating from the right side of the heart in infants and adolescents. In this article, we present a 5-year-old boy with a rare cardiac IMT who had no complaints and was diagnosed with murmur during his routine examination. Transthoracic echocardiography showed a homogeneous polypoid mass originating from the pulmonary valve, extending into the main pulmonary artery during systole and causing obstruction of the pulmonary artery and right ventricular outflow tract. Surgical resection of the tumor was performed successfully. There was no tumor recurrence in the control echocardiography at the postoperative first month.
