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1.
Acta Paediatr ; 113(4): 812-817, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38149770

RESUMEN

AIM: To describe our initial experience with the indications and results of the 5/7 Occlutech® duct Occluder (ODO, Occlutech International AB, Helsingborg, Sweden). A small incremental increase in occluder sizes is of utmost importance for successful outcomes, especially in smaller patients in whom protrusion of the distal disk towards the aorta should be minimised. METHODS: Retrospective study of all patients undergoing PDA closure with the 5/7 ODO in three institutions since 2018. RESULTS: The 5/7 ODO was used in 18 patients with median age and weight at the time of the procedure of 17.5 months (interquartile range 25th to 75th percentile 8 months- 4.4 years) and 13.6 kg (interquartile range 25th to 75th percentile 6.4-22.5 kg) respectively. All cases were successful. There were no cases of device embolisation, haemolysis, or flow disturbance of the LPA or the aorta. CONCLUSIONS: This small retrospective study demonstrated an excellent outcome of transcatheter PDA closure with the 5/7 ODO. The device is a beneficial complement to the existing sizes of PDA devices, filling the gap between the 4/6 and 6/8 ODO and avoiding protrusion of a larger disk in the aortic isthmus.


Asunto(s)
Conducto Arterioso Permeable , Dispositivo Oclusor Septal , Humanos , Preescolar , Estudios Retrospectivos , Resultado del Tratamiento , Diseño de Prótesis , Cateterismo Cardíaco/efectos adversos , Cateterismo Cardíaco/métodos
2.
Pediatr Cardiol ; 43(2): 449-456, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34623455

RESUMEN

Patients palliated with Total Cavopulmonary Connection have a lower muscle mass and a lower exercise capacity. We assessed calf muscle oxidative metabolism during and after heel raise exercise to exhaustion in young patients with TCPC compared to healthy peers. Near-infrared spectroscopy was used for measuring oxygen metabolism in the medial portion of the gastrocnemius muscle. Forty-three patients with TCPC, aged 6-18 years, were compared with 43 age and sex-matched healthy control subjects. Subgroups were formed to include children (6-12 years) and adolescents (13-18 years) to determine if these age groups influenced the results. During exercise, for the patients compared to controls there was a lower increase in deoxygenated hemoglobin (oxygen extraction) (5.13 ± 2.99au vs. 7.75 ± 4.15au, p = 0.001) and a slower rate of change in total hemoglobin (blood volume) (0.004 ± 0.015au vs 0.016 ± 0.01au, p = 0.001). Following exercise, patients exhibited a slower initial increase in tissue oxygenation saturation index (0.144 ± 0.11au vs 0.249 ± 0.226au, p = 0.007) and a longer half-time to maximum hyperemia (23.7 ± 11.4 s vs 16.8 ± 7.5 s, p = 0.001). On the subgroup level, the adolescents differed compared to healthy peers, whereas the children did not. Young patients with TCPC had impaired oxidative metabolism during exercise and required a longer time to recover. In that the differences were seen in the adolescent group and not in the children group may indicate a declining function with age.


Asunto(s)
Procedimiento de Fontan , Adolescente , Niño , Ejercicio Físico/fisiología , Tolerancia al Ejercicio/fisiología , Humanos , Músculo Esquelético , Consumo de Oxígeno/fisiología , Arteria Pulmonar
3.
Cardiol Young ; 32(6): 861-868, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34338624

RESUMEN

INTRODUCTION/AIM: Young patients with Fontan circulation may have low serum 25-hydroxyvitamin D levels, an affected liver, and unhealthy body compositions. This study aimed to explore the association between vitamin D intake/levels, liver biomarkers, and body composition in young Fontan patients. METHOD: We collected prospective data in 2017 to 2018, obtained with food-frequency questionnaires, biochemical analyses of liver biomarkers, and dual-energy X-ray absorptiometry scans in 44 children with Fontan circulation. Body compositions were compared to matched controls (n = 38). Linear regression analyses were used to investigate associations of biomarkers, leg pain, and lean mass on serum levels of 25-hydroxyvitamin D. Biomarkers were converted to z scores and differences were evaluated within the Fontan patients. RESULTS: Our Fontan patients had a daily mean vitamin D intake of 9.9 µg and a mean serum 25-hydroxyvitamin D of 56 nmol/L. These factors were not associated with fat or lean mass, leg pain, or biomarkers of liver status. The Fontan patients had significantly less lean mass, but higher fat mass than controls. Male adolescents with Fontan circulation had a greater mean abdominal fat mass than male controls and higher cholesterol levels than females with Fontan circulation. CONCLUSION: Vitamin D intake and serum levels were not associated with body composition or liver biomarkers in the Fontan group, but the Fontan group had lower lean mass and higher fat mass than controls. The more pronounced abdominal fat mass in male adolescents with Fontan circulation might increase metabolic risks later in life.


Asunto(s)
Procedimiento de Fontan , Adolescente , Biomarcadores , Composición Corporal , Índice de Masa Corporal , Niño , Femenino , Procedimiento de Fontan/efectos adversos , Humanos , Hígado , Masculino , Dolor , Estudios Prospectivos , Vitamina D , Vitaminas
4.
Scand J Public Health ; 49(5): 487-494, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31826713

RESUMEN

Aims: The overall aim was to explore the relationship between recurrent pain and perceived problems with academic achievement among boys and girls in middle and late elementary school. Methods: This 3-year follow-up study was based on data from the Study of Health in School-aged Children from Umeå (Sweden) and included children attending grade 6 in years 2003 and 2006, and a follow-up 3 years later in grade 9 (n = 1524, participation rate 90%). Results: Recurrent pain (head, stomach or back) at least doubled the odds of concurrent- and subsequent perceived problems with academic achievement. This applied for pain on a monthly and weekly basis, from single and multiple sites, and from each of the three studied pain sites. The odds increased with increasing pain frequency and number of pain sites. Problems with sleep, concentration or school absenteeism did not explain the association. Conclusions: Recurrent pain seems to be a potential predictor of perceived problems with academic achievement for school-aged children. This emphasises the importance of early identification and prevention of recurrent pain problems.


Asunto(s)
Éxito Académico , Dolor/epidemiología , Estudiantes/psicología , Niño , Femenino , Estudios de Seguimiento , Humanos , Estudios Longitudinales , Masculino , Percepción , Recurrencia , Instituciones Académicas , Estudiantes/estadística & datos numéricos , Suecia/epidemiología
5.
Acta Paediatr ; 110(11): 3105-3115, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34314540

RESUMEN

AIM: To compare risk algorithms (HCMRisk-Kids, ECG Risk-score) in hypertrophic cardiomyopathy (HCM) without syndrome association (ns-HCM) and with Noonan-like syndromes (RAS-HCM). METHODS: A national paediatric HCM cohort (n = 151), presenting <19 years of age, mean follow-up 13.3 years, from all Swedish centres of Paediatric Cardiology (presenting 1972-2015), with 41 RAS-HCM patients (61% males), and 110 ns-HCM patients (68% familial; 65% males). The end-point was a composite of sudden cardiac death and resuscitated cardiac arrest (SCD/CA). Risk-factors were studied with Cox-hazard regression, and receiver operating characteristic curve analysis (C-statistic). RESULTS: There were 33 SCD/CA, 27/110 in ns-HCM and 6/41 in RAS-HCM (p = 0.27). In ns-HCM HCMRisk-Kids ≥6% at diagnosis had C-statistic of 0.69 for predicting SCD/CA during first 5 years of follow-up and positive predictive value (PPV) of 22%. After 7 years of age (HCMRisk-Kids7plus), C-statistic was 0.76. ECG Risk-score ≥6 at diagnosis had C-statistic 0.87 and PPV of 31%. Independent risk factors for SCD/CA were HCMRisk-Kids7plus score (p = 0.005) and ECG risk-score (p < 0.001), whereas early beta-blocker dose (p = 0.001) and myectomy (p = 0.004) reduced risk. The sum of HCMRisk-Kids7yplus and ECG Risk-score7yplus ≥14 best predicted SCD/CA within 5 years in ns-HCM with C-statistic of 0.90 [0.83-0.96], sensitivity 100% and PPV 38%. CONCLUSION: Combining the ECG Risk-score with HCMRisk-Kids improves risk stratification in ns-HCM and shows promise in RAS-HCM.


Asunto(s)
Cardiomiopatía Hipertrófica , Muerte Súbita Cardíaca , Cardiomiopatía Hipertrófica/complicaciones , Cardiomiopatía Hipertrófica/diagnóstico , Niño , Muerte Súbita Cardíaca/epidemiología , Muerte Súbita Cardíaca/etiología , Electrocardiografía , Femenino , Humanos , Masculino , Curva ROC , Factores de Riesgo
6.
Cardiology ; 145(11): 746-756, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33049752

RESUMEN

INTRODUCTION: Left ventricular non-compaction (LVNC) represents a genetically heterogeneous cardiomyopathy which occurs in both children and adults. Its genetic spectrum overlaps with other types of cardiomyopathy. However, LVNC phenotypes in different age groups can have distinct genetic aetiologies. The aim of the study was to decipher the genetic spectrum of LVNC presented in childhood. Patient Group and Methods: Twenty patients under the age of 18 years diagnosed with LVNC were enrolled in the study. Target sequencing and whole-exome sequencing were performed using a panel of 108 cardiomyopathy-associated genes. Pathogenic, likely pathogenic, and variants of unknown significance found in genes highly expressed in cardiomyocytes were considered as variants of interest for further analysis. RESULTS: The median age at presentation was 8.0 (0.1-17) years, with 6 patients presenting before 1 year of age. Twelve (60%) patients demonstrated reduced ejection fraction. Right ventricular (RV) dilation was registered in 6 (30%), often in combination with reduced RV contractility (25%). Almost half (45%) of the patients demonstrated biventricular involvement already at disease presentation. For pathogenic and likely pathogenic variants, the positive genotyping rate was 45%, and these variants were found mainly in non-contractile structural sarcomeric genes (ACTN2, MYPN, and TTN) or in metabolic and signal transduction genes (BRAF and TAZ). Likely pathogenic TAZ variants were detected in all 5 patients suspected of having Barth syndrome. No pathogenic or likely pathogenic variants were found in genes encoding for sarcomeric contractile proteins, but variants of unknown significance were detected in 3 out of 20 patients (MYH6, MYH7, and MYLK2). In 4 patients, variants of unknown significance in ion-channel genes were detected. CONCLUSION: We detected a low burden of contractile sarcomeric variants in LVNC patients presenting below the age of 18 years, with the major number of variants residing in non-contractile structural sarcomeric genes. The identification of the variants in ion-channel and related genes not previously associated with LVNC in paediatric patients requires further examination of their functional role.


Asunto(s)
Cardiomiopatías , Cardiopatías Congénitas , Adolescente , Cardiomiopatías/genética , Niño , Ventrículos Cardíacos , Humanos , Mutación , Fenotipo
7.
Acta Paediatr ; 109(4): 746-753, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31557349

RESUMEN

AIM: Children born preterm are at increased risk of reduced lung function. The aim was to test whether lung function was associated with pulmonary vascular resistance. METHODS: Participants were recruited from a population-based cohort born in 2004-2007. Lung function was assessed with spirometry after administration of a beta2-agonist. Forced vital capacity (FVC) and forced expiratory volume in one second (FEV1 ) were determined. Estimations of pulmonary vascular resistance, arterial dimensions, right ventricular wall thickness, sphericity, and systolic (TAPSE) and diastolic functions were performed with echocardiography. Adjusted regression analyses were used to study associations. RESULTS: Sixty-six children (33 boys) born at 22-26 weeks of gestational age (birthweights 460-1134 g) were assessed at a mean age of 6.7 years. Despite large variations in lung function with FVC z-scores ranging from -4.6 to +2.8, there were no associations between lung function and pulmonary arterial pressure, right ventricular structure or function. Children with higher FVC z-scores (r = .52, ß = .55 mm, P = .015) and higher FEV1 z-scores (r = .58, ß = .73 mm, P = .001) exhibited larger pulmonary arteries. CONCLUSION: In children born extremely preterm, lung function was not associated with pulmonary vascular resistance. Routine echocardiographic evaluation of extremely preterm children may not be indicated at age 6.5 years.


Asunto(s)
Recien Nacido Extremadamente Prematuro , Pulmón , Adolescente , Niño , Femenino , Volumen Espiratorio Forzado , Humanos , Recién Nacido , Pulmón/diagnóstico por imagen , Masculino , Embarazo , Espirometría , Resistencia Vascular , Capacidad Vital
8.
J Card Surg ; 35(4): 868-874, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32160354

RESUMEN

BACKGROUND: Homograft tissue is an important reconstructive material used in the surgical correction of a variety of congenital heart defects. The aim of this study is to evaluate the long-term outcome of pulmonary artery (PA) branch patches used in the reconstruction of the thoracic aorta in children. METHODS: Retrospective review of 124 consecutive pediatric patients undergoing corrective surgery for their congenital heart defects between 2001 and 2016. Survival, reoperation, and reintervention data were collected, as well as imaging data to assess for presence of recoarctation, dilation, or aneurysm formation in the area of patch reconstruction. RESULTS: Overall 15-year survival was 83.9% and 15-year freedom from reintervention in the area of patch reconstruction was 89.2%. Rates of mortality (0%), cardiac transplantation (0%), and reoperation (0.8%) attributable to the area of patch reconstruction were low. The frequency of catheter-based intervention in the area of patch reconstruction was 9.7%; such interventions were successful in all but one patient, who ultimately underwent successful surgical aortoplasty. CONCLUSIONS: Homograft patches harvested from PA branches are an effective reconstructive material used for reconstruction of the aorta in small children. Long-term results show no risk of aneurysm formation and low rates of stenosis formation.


Asunto(s)
Aloinjertos/trasplante , Aorta Torácica/cirugía , Implantación de Prótesis Vascular/métodos , Cardiopatías Congénitas/cirugía , Procedimientos de Cirugía Plástica/métodos , Arteria Pulmonar/trasplante , Niño , Preescolar , Femenino , Cardiopatías Congénitas/mortalidad , Humanos , Lactante , Masculino , Tasa de Supervivencia , Resultado del Tratamiento
9.
Cardiol Young ; 30(3): 303-312, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31847927

RESUMEN

INTRODUCTION: Secundum atrial septal defect is one of the most common congenital heart defects. Previous paediatric studies have mainly addressed echocardiographic and few clinical factors among children associated with adverse events. The aim of this study was to identify neonatal and other clinical risk factors associated with adverse events up to one year after closure of atrial septal defect. METHODS: This retrospective case-control study includes children born in Sweden between 2000 and 2014 that were treated surgically or percutaneously for an atrial septal defect. Conditional logistic regression was used to evaluate the association between major and minor adverse events and potential risk factors, adjusting for confounding factors including prematurity, neonatal sepsis, neonatal general ventilatory support, symptomatic atrial septal defects, and pulmonary hypertension. RESULTS: Overall, 396 children with 400 atrial septal defect closures were included. The median body weight at closure was 14.5 (3.5-110) kg, and the median age was 3.0 (0.1-17.8) years. Overall, 110 minor adverse events and 68 major events were recorded in 87 and 49 children, respectively. Only symptomatic atrial septal defects were associated with both minor (odds ratio (OR) = 2.18, confidence interval (CI) 95% 1.05-8.06) and major (OR = 2.80 CI 95% 1.23-6.37) adverse events. CONCLUSION: There was no association between the investigated neonatal comorbidities and major or minor events after atrial septal defect closure. Patients with symptomatic atrial septal defects had a two to four times increased risk of having a major event, suggesting careful management and follow-up of these children prior to and after closure.


Asunto(s)
Cateterismo Cardíaco/efectos adversos , Defectos del Tabique Interatrial/cirugía , Complicaciones Posoperatorias/epidemiología , Nacimiento Prematuro/epidemiología , Dispositivo Oclusor Septal/efectos adversos , Adolescente , Niño , Preescolar , Comorbilidad , Femenino , Estudios de Seguimiento , Humanos , Lactante , Modelos Logísticos , Masculino , Estudios Retrospectivos , Factores de Riesgo , Suecia/epidemiología , Factores de Tiempo , Resultado del Tratamiento
10.
Cardiol Young ; 30(8): 1138-1143, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32571442

RESUMEN

INTRODUCTION: Impaired isometric muscle strength was previously reported in adults with Fontan circulation. However, it is unclear if this impairment is present in children and adolescents with Fontan circulation. We investigated isometric muscle strength of the lower limb in patients (6-18 years) with Fontan circulation in comparison with healthy controls. METHOD: In this cross-sectional study, 43 patients (6-18 years) with Fontan circulation and 43 age- and sex-matched controls were included. Isometric knee extension and plantar flexion muscle strength were assessed using dynamometry (Newton, N). Lean mass of the legs was assessed with dual-energy X-ray absorptiometry. Analyses were performed on group level (n = 43), and for subgroups that included children aged 6-12 years (n = 18) and adolescents aged 13-18 years (n = 25). RESULTS: On group level, the patients with Fontan circulation had impaired isometric knee extension strength in comparison with the controls (p = 0.03). In subgroup analyses, impaired isometric knee extension strength was present in the adolescents (p = 0.009) but not in the children groups. For plantar flexion, there was no difference between patients and controls. There was no difference in lean mass between patients and controls (9.6 ± 4.3 kg vs. 10.8 ± 5.6 kg, p = 0.31). However, the lean mass was highly correlated to isometric knee extension strength (patients r = 0.89, controls r = 0.96, p < 0.001) and isometric plantar flexion strength (patients r = 0.7, controls r = 0.81, p < 0.001). CONCLUSION: The finding of impaired isometric knee extension muscle strength in adolescents (13-18 years) with Fontan circulation and no corresponding impairment in the children group (6-12 years) could imply that isometric muscle strength gets more impaired with age.


Asunto(s)
Procedimiento de Fontan , Adolescente , Adulto , Niño , Estudios Transversales , Humanos , Contracción Isométrica , Rodilla , Pierna , Fuerza Muscular
11.
J Sch Nurs ; 36(1): 61-78, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30786840

RESUMEN

Recurrent pain and school failures are common problems in children visiting the school nurses office. The overall aim of the current study was to investigate the relationship between recurrent pain and academic achievement in school-aged children. Literature was searched in seven electronic databases and in relevant bibliographies. Study selection, data extraction, and study and evidence quality assessments were performed systematically with standardized tools. Twenty-one studies met the inclusion criteria and 13 verified an association between recurrent pain (headache, stomachache, and musculoskeletal pain) and negative academic achievement. Two longitudinal studies indicated a likely causal effect of pain on academic achievement. All studies had substantial methodological drawbacks and the overall quality of the evidence for the identified associations was low. Thus, children's lack of success in school may be partly attributed to recurrent pain problems. However, more high-quality studies are needed, including on the direction of the association and its moderators and mediators.


Asunto(s)
Éxito Académico , Dolor Crónico/epidemiología , Población , Dolor Abdominal/epidemiología , Adolescente , Niño , Femenino , Cefalea/epidemiología , Humanos , Masculino , Dolor Musculoesquelético/epidemiología , Recurrencia
12.
Cardiol Young ; 29(5): 626-636, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31159892

RESUMEN

INTRODUCTION: Atrial septal defect is the third most common CHD. A hemodynamically significant atrial septal defect causes volume overload of the right side of the heart. Preterm children may suffer from both pulmonary and cardiac comorbidities, including altered myocardial function. The aim of this study was to compare the rate of adverse events following atrial septal defect closure in preterm- and term-born children. METHOD: We performed a retrospective cohort study including children born in Sweden, who had a surgical or percutaneous atrial septal defect closure at the children's hospitals in Lund and Stockholm, between 2000 and 2014, assessing time to the first event within 1 month or 1 year. We analysed differences in the number of and the time to events between the preterm and term cohort using the Kaplan-Meier survival curve, a generalised model applying zero-inflated Poisson distribution and Gary-Anderson's method. RESULTS: Overall, 413 children were included in the study. Of these, 93 (22.5%) were born prematurely. The total number of adverse events was 178 (110 minor and 68 major). There was no difference between the cohorts in the number of events, whether within 1 month or within a year, between major (p = 0.69) and minor (p = 0.84) events or frequencies of multiple events (p = 0.92). CONCLUSION: Despite earlier procedural age, larger atrial septal defects, and higher comorbidity than term children, preterm children appear to have comparable risk for complications during the first year after surgical or percutaneous closure.


Asunto(s)
Cateterismo Cardíaco/efectos adversos , Defectos del Tabique Interatrial/cirugía , Complicaciones Posoperatorias/epidemiología , Nacimiento Prematuro/epidemiología , Dispositivo Oclusor Septal/efectos adversos , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos , Factores de Riesgo , Suecia/epidemiología , Factores de Tiempo
13.
Cardiol Young ; 29(7): 922-929, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31218992

RESUMEN

OBJECTIVE: To study physical activity and sleep in Fontan patients and healthy controls before and after an endurance training program, and after 1 year. METHOD: Fontan patients (n = 30) and healthy controls (n = 25) wore accelerometers for seven consecutive days and nights during a school week before and after a 12-week endurance training program and after 1 year. RESULTS: Patients had similar sleep duration and sleep efficiency as healthy controls. Latency to sleep onset in minutes was longer for patients than controls (22.4 (4.3-55.3) minutes versus 14.8 (8.6-29.4) minutes, p < 0.01). More time in moderate-to-vigorous activity daytime was correlated with increased sleep time (p < 0.05; r2 = 0.20), improved sleep efficiency (p < 0.01; r2 = 0.24) and less time as wake after sleep onset (p < 0.05; r2 = 0.21) for patients but not controls. Sleep variables did not change after the exercise intervention for patients or controls. After 1 year, patients had decreased total sleep time, decreased sleep efficiency, increased accelerometer counts during sleep and more time as wake after sleep onset during sleep time, but not controls. CONCLUSIONS: Fontan patients have prolonged latency to sleep onset compared with controls. More time in physical activities was correlated with better sleep quality for the patients. Also, subjects with low sleep efficiency and long latency to sleep onset may benefit most from physical exercise. These patients should be encouraged to engage in individually designed physical exercise as this could improve sleep quality.


Asunto(s)
Entrenamiento Aeróbico , Ejercicio Físico , Procedimiento de Fontan , Cardiopatías Congénitas/fisiopatología , Cardiopatías Congénitas/rehabilitación , Sueño/fisiología , Actigrafía , Adolescente , Niño , Femenino , Estudios de Seguimiento , Cardiopatías Congénitas/cirugía , Humanos , Masculino , Resistencia Física
14.
Hum Mutat ; 39(9): 1161-1172, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-29858533

RESUMEN

Mutations in FLNC for a long time are known in connection to neuromuscular disorders and only recently were described in association with various cardiomyopathies. Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C>T, p.A1186V, rs1114167361 in three probands and c.[3547G>C; 3548C>T], p.A1183L, rs1131692185 in one proband). In all cases, concurrent myopathy was confirmed by neurological examination, electromyography, and morphological studies. Three of the patients also presented with arthrogryposis. The pathogenicity of the described missense variants was verified by cellular and morphological studies and by in vivo modeling in zebrafish. Combination of in silico and experimental approaches revealed that FLNC missense variants localized in Ig-loop segments often lead to development of RCM. The described FLNC mutations associated with early-onset RCMP extend cardiac spectrum of filaminopathies and facilitate the differential diagnosis of restrictive cardiac phenotype associated with neuromuscular involvement in children.


Asunto(s)
Cardiomiopatía Restrictiva/genética , Anomalías Congénitas/genética , Filaminas/genética , Enfermedades Musculares/genética , Adolescente , Cardiomiopatía Restrictiva/fisiopatología , Preescolar , Anomalías Congénitas/fisiopatología , Análisis Mutacional de ADN , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Enfermedades Musculares/fisiopatología , Mutación , Linaje , Fenotipo
15.
Cardiol Young ; 28(9): 1115-1122, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29972111

RESUMEN

OBJECTIVES: The objective of this research was to study lung function, physical capacity, and effect of endurance training in children and adolescents after Fontan palliation compared with healthy matched controls. METHODS: Fontan patients (n=30) and healthy matched control patients (n=25) performed dynamic and static spirometry, and pulmonary diffusing capacity and maximal oxygen uptake tests, before and after a 12-week endurance training programme and at follow-up after 1 year. RESULTS: Fontan patients had a restrictive lung pattern, reduced pulmonary diffusing capacity (4.27±1.16 versus 6.61±1.88 mmol/kPa/minute, p<0.001), and a reduced maximal oxygen uptake (35.0±5.1 versus 43.7±8.4 ml/minute/kg, p<0.001) compared with controls. Patients had air trapping with a higher portion of residual volume of total lung capacity compared with controls (26±6 versus 22±5%, p<0.05). Vital capacity increased for patients, from 2.80±0.97 to 2.91±0.95 L, p<0.05, but not for controls after endurance training. The difference in diffusing capacity between patients and controls appeared to be greater with increasing age. CONCLUSIONS: Fontan patients have a restrictive lung pattern, reduced pulmonary diffusing capacity, and reduced maximal oxygen uptake compared with healthy controls. Endurance training may improve vital capacity in Fontan patients. The normal increase in pulmonary diffusing capacity with age and growth was reduced in Fontan patients, which is concerning. Apart from general health effects, exercise may improve lung function in young Fontan patients and should be encouraged.


Asunto(s)
Terapia por Ejercicio/métodos , Tolerancia al Ejercicio/fisiología , Procedimiento de Fontan/rehabilitación , Cardiopatías Congénitas/cirugía , Pulmón/fisiopatología , Capacidad de Difusión Pulmonar/fisiología , Adolescente , Niño , Prueba de Esfuerzo , Femenino , Estudios de Seguimiento , Cardiopatías Congénitas/fisiopatología , Humanos , Masculino , Periodo Posoperatorio , Estudios Retrospectivos , Adulto Joven
16.
Cardiol Young ; 28(3): 438-446, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29237518

RESUMEN

OBJECTIVE: Children after Fontan palliation have reduced exercise capacity and quality of life. Our aim was to study whether endurance training could improve physical capacity and quality of life in Fontan patients. METHODS: Fontan patients (n=30) and healthy age- and gender-matched control subjects (n=25) performed a 6-minute walk test at submaximal capacity and a maximal cycle ergometer test. Quality of life was assessed with Pediatric Quality of Life Inventory Version 4.0 questionnaires for children and parents. All tests were repeated after a 12-week endurance training programme and after 1 year. RESULTS: Patients had decreased submaximal and maximal exercise capacity (maximal oxygen uptake 35.0±5.1 ml/minute per·kg versus 43.7±8.4 ml/minute·per·kg, p<0.001) and reported a lower quality of life score (70.9±9.9 versus 85.7±8.0, p<0.001) than controls. After training, patients improved their submaximal exercise capacity in a 6-minute walk test (from 590.7±65.5 m to 611.8±70.9 m, p<0.05) and reported a higher quality of life (p<0.01), but did not improve maximal exercise capacity. At follow-up, submaximal exercise capacity had increased further and improved quality of life was sustained. The controls improved their maximal exercise capacity (p<0.05), but not submaximal exercise capacity or quality of life after training. At follow-up, improvement of maximal exercise capacity was sustained. CONCLUSIONS: We believe that an individualised endurance training programme for Fontan patients improves submaximal exercise capacity and quality of life in Fontan patients and the effect on quality of life appears to be long-lasting.


Asunto(s)
Terapia por Ejercicio/métodos , Tolerancia al Ejercicio , Procedimiento de Fontan/rehabilitación , Calidad de Vida , Adolescente , Estudios de Casos y Controles , Niño , Femenino , Frecuencia Cardíaca , Humanos , Masculino , Resistencia Física , Análisis de Regresión , Encuestas y Cuestionarios , Suecia , Prueba de Paso
17.
Pediatr Res ; 81(2): 299-306, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-28195589

RESUMEN

BACKGROUND: Preterm birth increases risk for adult cardiovascular disease. We hypothesized that arteries in 6-y-old children born preterm are narrower, with thicker intima-media and stiffer than in peers born at term. METHODS: Children born extremely preterm (EXP, n = 176, birthweights: 348-1,161 g) and at term (CTRL, n = 174, birthweights: 2,430-4,315 g) were included. Using ultrasonography, we determined diameters of the coronaries (CA), common carotid arteries (CCA) and aorta, the carotid intima media thickness (cIMT), and the stiffness index of the CCA and aorta. RESULTS: Arteries were 5-10% narrower in EXP than in CTRL (P < 0.005) but after adjustment for body surface area, diameter differences diminished or disappeared. EXP-children born small for gestational age exhibited similar arterial dimensions as those born appropriate for date. The cIMT was 0.38 (SD = 0.04) mm and did not differ between groups. Carotid but not aortic stiffness was lower in EXP than in CTRL. CONCLUSION: In 6-y-old children born extremely preterm, conduit arteries are of similar or smaller size than in controls born at term, and they have no signs of accelerated intima media thickening or arterial stiffening. While these findings are reassuring for these children and their families, the causal pathways from preterm birth to adult cardiovascular disease remain unknown.


Asunto(s)
Aorta/fisiopatología , Arteria Carótida Común/fisiopatología , Grosor Intima-Media Carotídeo , Vasos Coronarios/fisiopatología , Peso al Nacer , Niño , Elasticidad , Femenino , Edad Gestacional , Humanos , Recien Nacido Extremadamente Prematuro , Recién Nacido , Recien Nacido Prematuro , Recién Nacido Pequeño para la Edad Gestacional , Masculino , Suecia/epidemiología , Rigidez Vascular
18.
Acta Paediatr ; 105(11): 1322-1328, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-27515293

RESUMEN

AIM: A growing number of patients with Fontan circulation are reaching adulthood, and there is increasing concern about their physical performance and quality of life. This study compared self-reported exercise and measured activity with quality of life in patients after Fontan palliation and healthy controls. METHODS: Physical exercise during an average school week was reported by 30 Fontan circulation patients aged eight to 20 years, and 25 healthy controls, followed by accelerometer recordings over seven days. All subjects and their parents answered a questionnaire on quality of life. RESULTS: Patients reported spending less time exercising each week than the controls (114 ± 66 minutes vs. 228 ± 147 minutes, p < 0.001). However, the overall measured activity and moderate-to-vigorous activity was similar for patients and controls. Patients reported a lower quality of life score than the controls (70.9 ± 9.9 vs. 85.7 ± 8.0, p < 0.001). CONCLUSION: In spite of similar measured total activity, Fontan patients reported less time engaged in regular physical exercise than healthy controls and their quality of life was lower than the controls. We speculate that promoting structured regular physical exercise could improve the quality of life of Fontan patients.


Asunto(s)
Tolerancia al Ejercicio/fisiología , Ejercicio Físico , Procedimiento de Fontan/rehabilitación , Calidad de Vida , Atresia Tricúspide/cirugía , Acelerometría/instrumentación , Acelerometría/métodos , Adolescente , Estudios de Casos y Controles , Niño , Ejercicio Físico/fisiología , Ejercicio Físico/psicología , Femenino , Procedimiento de Fontan/efectos adversos , Procedimiento de Fontan/psicología , Humanos , Modelos Lineales , Efectos Adversos a Largo Plazo , Masculino , Autoinforme , Encuestas y Cuestionarios , Análisis de Supervivencia , Suecia , Adulto Joven
19.
Mol Genet Metab ; 115(2-3): 118-27, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25982065

RESUMEN

Various mutations in LMNA gene, encoding for nuclear lamin A/C protein, lead to laminopathies and contribute to over ten human disorders, mostly affecting tissues of mesenchymal origin such as fat tissue, muscle tissue, and bones. Recently it was demonstrated that lamins not only play a structural role providing communication between extra-nuclear structures and components of cell nucleus but also control cell fate and differentiation. In our study we assessed the effect of various LMNA mutations on the expression profile of mesenchymal multipotent stem cells (MMSC) during adipogenic and osteogenic differentiation. We used lentiviral approach to modify human MMSC with LMNA-constructs bearing mutations associated with different laminopathies--G465D, R482L, G232E, R527C, and R471C. The impact of various mutations on MMSC differentiation properties and expression profile was assessed by colony-forming unit analysis, histological staining, expression of the key differentiation markers promoting adipogenesis and osteogenesis followed by the analysis of the whole set of genes involved in lineage-specific differentiation using PCR expression arrays. We demonstrate that various LMNA mutations influence the differentiation efficacy of MMSC in mutation-specific manner. Each LMNA mutation promotes a unique expression pattern of genes involved in a lineage-specific differentiation and this pattern is shared by the phenotype-specific mutations.


Asunto(s)
Laminas/genética , Células Madre Mesenquimatosas/metabolismo , Mutación , Transcriptoma , Adipogénesis , Diferenciación Celular , Células Cultivadas , Histona Desacetilasas/metabolismo , Humanos , Osteogénesis
20.
Front Cardiovasc Med ; 11: 1349166, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38606378

RESUMEN

Background: ECG abnormalities have been linked to adverse changes in right ventricular (RV) morphology and poor clinical outcomes in repaired Tetralogy of Fallot (rTOF). Our aim was to describe how ECG changes progress in early and intermediate follow-up and whether types of surgical strategy at the time of primary repair affected these changes. Methods: We studied patients with rTOF born 2000-2018 operated at our institution. Seven time points in relation to primary repair, follow-up, and pulmonary valve replacement (PVR) were identified. Patients correct with valve sparing repair (VSR), trans-annular patch (TAP) including with a monocusp valve (TAP + M) and with at least 3 ECGs were included. PQ interval, QRS duration, dispersion, and fragmentation, QTc duration and dispersion, JTc as well as presence of a right bundle branch block (RBBB) were analyzed. Medical records were reviewed for demographic and surgical data. Results: Two hundred nineteen patients with 882 ECGs were analyzed with a median follow-up time of 12.3 years (8.4, 17) with 41 (19%) needing PVR during the study period. QRS duration increased at time of primary repair to discharge from 66 msec (IQR 12) to 129 msec (IQR 27) (p < 0.0001) and at 1- and 6- year follow-up but showed only a modest and temporary decrease after PVR. QTc increased at the time of primary repair as well as prior to PVR. PQ interval showed a small increase at the time of primary repair, was at its highest prior to PVR and decreased with PVR. Type of surgical repair affected mainly QTc and JTc and was consistently longer in the TAP + M group until PVR. In VSR, QTc and JTc were prolonged initially compared to TAP but were similar after 1 year. After PVR, there were no differences in adverse ECG changes between surgical groups. Conclusions: PQ interval and QRS duration best correspond to the assumed volume load whereas the relationship with QTc and JTc is more complex, suggesting that these represent more complex remodeling of the myocardium. Before PVR, QTc and JTc are longer in the TAP + M group which may be due to a longer surgical incision.

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