RESUMO
Barth syndrome (BTHS) is an X-linked disorder characterised by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. This study describes the UK national clinical experience and outcome of cardiomyopathy in BTHS. The clinical course and echocardiographic changes of all patients with BTHS in the UK were reviewed from 2004 to 2014. In addition, strain analysis using 2D speckle tracking echocardiography was performed to further assess left ventricular function in the most recent follow-up. At last follow-up, 22 of 27 patients were alive with a median age of 12.6 (2.0-23.8) years; seven underwent cardiac transplantation at a median age of 2 (0.33-3.6) years, and five died (18.5%) at a median age of 1.8 (0.02-4.22) years. All deaths were related to cardiomyopathy or its management. Left ventricular diastolic dimension and systolic function measured by fractional shortening tended to normalise and stabilise after the first 3 years of life in the majority of patients. However, patients with BTHS (n = 16) had statistically significant reduction in global longitudinal and circumferential strain compared to controls (n = 18), (p < 0.001), despite apparent normal conventional measures of function. There was also reduced or reversed apical rotation and reduced left ventricular twist. Sustained ventricular arrhythmia was not seen at follow-up. Cardiac phenotype in BTHS is variable; however, longer-term outcome in our cohort suggests good prognosis after the first 5 years of life. Most patients appeared to have recovered near normal cardiac function by conventional echocardiographic measures, but strain analysis showed abnormal myocardial deformation and rotational mechanics.
Assuntos
Síndrome de Barth/diagnóstico , Cardiomiopatias/diagnóstico , Adolescente , Síndrome de Barth/mortalidade , Síndrome de Barth/fisiopatologia , Cardiomiopatias/mortalidade , Cardiomiopatias/fisiopatologia , Criança , Pré-Escolar , Ecocardiografia/métodos , Eletrocardiografia , Feminino , Humanos , Lactente , Masculino , Análise de Sobrevida , Reino Unido , Adulto JovemRESUMO
BACKGROUND: Phase contrast cardiovascular magnetic resonance (PC CMR) has emerged as a clinical tool for blood flow quantification but its use in the foetus has been hampered by the need for gating with the foetal heart beat. The previously described metric optimized gating (MOG) technique has been successfully used to measure foetal blood flow in late gestation foetuses on a 1.5 T CMR magnet. However, there is increasing interest in performing foetal cardiac imaging using 3.0 T CMR. We describe our pilot investigation of foetal blood flow measured using 3.0 T CMR. METHODS: Foetal blood flows were quantified in 5 subjects at late gestational age (35-38 weeks). Three were normal pregnancies and two were pregnancies with ventricular size discrepancy. Data were obtained at 1.5 T and 3.0 T using a previously described PC CMR protocol. After reconstruction using MOG, blood flow was quantified independently by two observers. Intra- and inter-observer reproducibility of flow measurements at the two field strengths was assessed by Pearson correlation coefficient (R(2)), linear regression and Bland Altman analysis. RESULTS: PC CMR flow measurements were obtained in 36 of 40 target vessels. Strong intra-observer agreement was obtained between measurements at each field strength (R(2) = 0.78, slope = 0.83 ± 0.11), with a mean bias of -1 ml/min/kg and 95% confidence limits of ±71 ml/min/kg. Inter-observer agreement was similarly high for measurements at both 1.5 T (R(2) = 0.86, slope = 0.95 ± 0.13, bias = 6 ± 52 ml/min/kg) and 3.0 T (R(2) = 0.88, slope = 0.94 ± 0.13, bias = 4 ± 47 ml/min/kg). Across all PC CMR measurements, SNR per pixel was expectedly higher at 3.0 T relative to 1.5 T (165 ± 50%). The relative differences in flow measurements between observers were low (range: 4-16%) except for pulmonary blood flow which showed much higher variability at 1.5 T (34%) versus that at 3.0 T (11%). This was attributed to the poorly visualized, small pulmonary vessels at 1.5 T, which made delineation inconsistent between observers. CONCLUSIONS: This is the first pilot study to measure foetal blood flow using PC CMR at 3.0 T. The flow data obtained were in good correlation with those measured at 1.5 T, both within and between observers. With increased SNR at 3.0 T, smaller pulmonary vessels were better visualized which improved inter-observer agreement of associated flows.
Assuntos
Circulação Coronária , Coração Fetal/fisiopatologia , Cardiopatias Congênitas/diagnóstico , Imageamento por Ressonância Magnética/métodos , Imagem de Perfusão do Miocárdio/métodos , Diagnóstico Pré-Natal/métodos , Artéria Pulmonar/fisiopatologia , Circulação Pulmonar , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Feminino , Idade Gestacional , Cardiopatias Congênitas/fisiopatologia , Humanos , Interpretação de Imagem Assistida por Computador , Variações Dependentes do Observador , Projetos Piloto , Valor Preditivo dos Testes , Gravidez , Fluxo Sanguíneo Regional , Reprodutibilidade dos TestesRESUMO
UNLABELLED: The commonest autosomal deletion, 22q11.2 deletion syndrome (22q11DS) is a multisystem disorder varying greatly in severity and age of identification between affected individuals. Holistic care is best served by a multidisciplinary team, with an anticipatory approach. Priorities tend to change with age, from feeding difficulties, infections and surgery of congenital abnormalities particularly of the heart and velopharynx in infancy and early childhood to longer-term communication, learning, behavioural and mental health difficulties best served by evaluation at intervals to consider and initiate management. Regular monitoring of growth, endocrine status, haematological and immune function to enable early intervention helps in maintaining health. CONCLUSION: Guidelines to best practice management of 22q11DS based on a literature review and consensus have been developed by a national group of professionals with consideration of the limitations of available medical and educational resources.
Assuntos
Síndrome de DiGeorge/terapia , Criança , Pré-Escolar , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/genética , Humanos , Equipe de Assistência ao PacienteRESUMO
This case highlights the importance of considering drug ingestion when the clinical features at presentation are unusual. To our knowledge, this is the first report of atrial flutter secondary to tricyclic antidepressant (TCA) overdose in a child.
Assuntos
Antidepressivos Tricíclicos/intoxicação , Flutter Atrial/induzido quimicamente , Dotiepina/intoxicação , Adenosina/administração & dosagem , Antiarrítmicos/administração & dosagem , Flutter Atrial/tratamento farmacológico , Flutter Atrial/fisiopatologia , Pré-Escolar , Overdose de Drogas , Eletrocardiografia/efeitos dos fármacos , Seguimentos , Frequência Cardíaca/efeitos dos fármacos , Humanos , Injeções Intravenosas , MasculinoRESUMO
OBJECTIVE: To compare the incidence of apnea, bradycardia, or desaturation in a car seat with that in a car bed for preterm very low birth weight (< or = 1500 g) infants. STUDY DESIGN: Infants were studied for 120 minutes in a car seat and in a car bed. Apnea (> 20 seconds), bradycardia (heart rate < 80/min for > 5 seconds), desaturation (SpO2 < 88% for > 10 seconds), and absent nasal flow were monitored. RESULTS: We assessed 151 infants (median birth weight, 1120 g [range, 437 to 3105]; median birth gestational age, 29 weeks [24 to 34]) in both devices. Twenty-three infants (15%) had > or = 1 event in the car seat compared with 29 (19%) in the car bed (P = .4). Time to first event was similar in the car seat and car bed (mean, 54 to 55 minutes). In logistic regression analyses, bronchopulmonary dysplasia was a significant predictor for a car seat event and a lower gestational age at birth was a risk factor for a car bed event. CONCLUSIONS: We found no evidence that an event is less likely in a car bed than in a car seat. Whichever device is used, very low birth weight infants require observation during travel.
Assuntos
Leitos , Qualidade de Produtos para o Consumidor , Equipamentos para Lactente , Recém-Nascido de muito Baixo Peso , Acidentes de Trânsito/prevenção & controle , Condução de Veículo , Feminino , Humanos , Recém-Nascido , Masculino , Alta do Paciente , Probabilidade , Medição de Risco , Estudos de Amostragem , Estatísticas não ParamétricasRESUMO
BACKGROUND: It is unclear whether increased pulmonary arterial (PA) reactivity to hypoxia observed in preterm infants who develop chronic lung disease of prematurity (CLD) persists into childhood. AIM: We assessed and compared PA pulse wave velocity (PWV) in air and after 12% hypoxia using velocity-encoded MRI between children who had CLD in infancy and preterm-born and term-born controls. METHODS: From 67 recruited children, 59 (13 CLD, 21 preterm, 25 term), 9-12-year-old children successfully completed the study. Velocity-encoded phase-contrast MR PA images were acquired breathing air and during breathing 12% hypoxia. PA PWV was derived as the ratio of flow to area changes during early systole. RESULTS: There were no differences in mean (SD) PA PWV between the groups breathing air (CLD=1.3 (0.4) m/s, preterm control=1.3 (0.4) m/s, term control=1.3 (0.3) m/s)) but increased following hypoxia to 1.9 (0.7) m/s, 1.6 (0.6) m/s and 1.5 (0.5) m/s in CLD, preterm and term groups, respectively. The mean differences (95% CI) for PA PWV between CLD and the preterm and control groups were 0.37 (0.08 to 0.70) and 0.34 (0.05 to 0.70), respectively. There was no difference for change in PA PWV with hypoxia between the two control groups, mean difference 0.23 (-0.2 to 0.3). CONCLUSIONS: Children who had CLD in infancy had increased pulmonary arterial reactivity during hypoxia, thus long-term follow-up is warranted in this population.
Assuntos
Hipóxia/fisiopatologia , Doenças do Prematuro , Pneumopatias , Artéria Pulmonar , Criança , Doença Crônica , Estudos Transversais , Feminino , Seguimentos , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/fisiopatologia , Pneumopatias/complicações , Pneumopatias/diagnóstico , Pneumopatias/fisiopatologia , Imageamento por Ressonância Magnética/métodos , Masculino , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/fisiopatologia , Análise de Onda de Pulso/métodos , Estatística como AssuntoRESUMO
Cardiovascular magnetic resonance imaging (CMRI) has been shown to be an important alternative to echocardiography and catheterization for diagnostic imaging in older patients with congenital heart disease. However, little information is available on its clinical role, accuracy, and technical aspects in infants. We retrospectively identified all patients <1 year of age who underwent a CMRI examination at our institution over a 4-year period (from 1999 to 2002) and reviewed their medical records. Ninety-nine CMRI examinations were performed in 91 patients (median weight 4.9 kg; range 1.2 to 16.3) at a median age of 102 days (range 1 to 358). Technical modifications were used to improve signal-to-noise ratio and temporal resolution, and specialized personnel and equipment were employed. All CMRI studies were performed under general anesthesia without any complications, and all outpatients (n = 44) were discharged the same day. The primary referral questions for CMRI were delineation of the thoracic vasculature (n = 54), assessment of possible airway compression (n = 25), evaluation of cardiac tumor (n = 6), and other (n = 14). For the thoracic vasculature group, findings at surgery (n = 37) and catheterization (n = 16) were concordant with the CMRI diagnoses. In the airway compression group, findings at surgery (n = 16) were also in agreement with CMRI findings. Tumor types by CMRI in the 3 patients with preoperative studies were confirmed by histologic results. Thus, CMRI has a limited but important diagnostic role in infants with cardiovascular disease. It is an accurate and safe method to delineate the thoracic vasculature, evaluate possible airway compression, and characterize cardiac tumors. CMRI may obviate cardiac catheterization and bronchoscopy in selected cases.
Assuntos
Cardiopatias Congênitas/diagnóstico , Imagem Cinética por Ressonância Magnética/métodos , Feminino , Cardiopatias Congênitas/patologia , Humanos , Lactente , Masculino , Prontuários Médicos , Valor Preditivo dos Testes , Estudos RetrospectivosRESUMO
PURPOSE: To assess the feasibility of measuring pulmonary artery (PA) pulse wave velocity (PWV) in children breathing ambient air and 12% oxygen. METHODS: Velocity-encoded phase-contrast MR images of the PA were acquired in 15 children, aged 9-12years, without evidence of cardiac or pulmonary diseases. PWV was derived as the ratio of flow to area changes during early systole. Each child was scanned twice, in air and after at least 20minutes into inspiratory hypoxic challenge. Intra-observer and inter-observer variability and repeatability were also compared. RESULTS: PA PWV, which was successfully measured in all subjects, increased from 1.31±0.32m/s in air to 1.61±0.58m/s under hypoxic challenge (p=0.03). Intra- and inter-observer coefficients of variations were 9.0% and 15.6% respectively. Good correlation within and between observers of r=0.92 and r=0.72 respectively was noted for PA PWV measurements. Mean (95% limit of agreement) intra- and inter-observer agreement on Bland-Altman analysis were -0.02m/s (-0.41-0.38m/s) and -0.28m/s (-1.06-0.49m/s). CONCLUSION: PA PWV measurement in children using velocity-encoded MRI is feasible, reproducible and sufficiently sensitive to detect differences in PA compliance between normoxia and hypoxia. This technique can be used to detect early changes of PA compliance and monitor PAH in children.
Assuntos
Hipóxia/fisiopatologia , Interpretação de Imagem Assistida por Computador/métodos , Angiografia por Ressonância Magnética/métodos , Artéria Pulmonar/fisiopatologia , Circulação Pulmonar , Fluxo Pulsátil , Análise de Onda de Pulso/métodos , Velocidade do Fluxo Sanguíneo , Criança , Estudos de Viabilidade , Feminino , Humanos , Hipóxia/diagnóstico , Masculino , Projetos Piloto , Artéria Pulmonar/anatomia & histologia , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Rigidez VascularRESUMO
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood.
Assuntos
Síndrome de Barth/genética , Síndrome de Barth/complicações , Síndrome de Barth/diagnóstico , Síndrome de Barth/fisiopatologia , Cardiopatias/complicações , Humanos , MasculinoAssuntos
Malformações Arteriovenosas/diagnóstico , Pulmão/irrigação sanguínea , Malformações Arteriovenosas/cirurgia , Ecocardiografia/métodos , Humanos , Recém-Nascido , Pulmão/diagnóstico por imagem , Masculino , Cuidado Pós-Natal/métodos , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/cirurgia , Radiografia , Resultado do Tratamento , Ultrassonografia Pré-Natal/métodosAssuntos
Velocidade do Fluxo Sanguíneo/fisiologia , Cateterismo Cardíaco/métodos , Imagem Cinética por Ressonância Magnética , Oximetria , Adolescente , Adulto , Aorta/fisiopatologia , Derivação Arteriovenosa Cirúrgica , Criança , Feminino , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/fisiopatologia , Comunicação Interatrial/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Estudos Prospectivos , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/fisiopatologia , Radiografia , Análise de Regressão , Reprodutibilidade dos Testes , Estatística como AssuntoRESUMO
Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial description of this condition by Barth et al. (J Neurol Sci 62:327-355) in 1983. Many features of the Barth phenotype have been described but there is no published comment on the facial appearance of these boys, which is consistent and characteristic of this condition.
Assuntos
Anormalidades Múltiplas/patologia , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Masculino , SíndromeRESUMO
A 15-year-old girl with known Ehlers-Danlos syndrome (EDS) type IV presented with severe pulmonary valve stenosis requiring intervention. We describe successful pulmonary valvuloplasty using a 90% balloon/annulus angioplasty balloon. The procedure was complicated by early restenosis suggesting an abnormal scarring response in EDS IV.
Assuntos
Cateterismo , Síndrome de Ehlers-Danlos/terapia , Estenose da Valva Pulmonar/terapia , Valva Pulmonar/cirurgia , Adolescente , Síndrome de Ehlers-Danlos/complicações , Feminino , Humanos , Estenose da Valva Pulmonar/complicaçõesRESUMO
BACKGROUND: General anaesthesia is frequently necessary in infants and small children undergoing cardiac magnetic resonance imaging (MRI), because of the imaging techniques, MRI environment and potential need for breath-holding to facilitate imaging. Anaesthetizing paediatric patients with congenital heart disease (CHD) for cardiac MRI poses many challenges for the anaesthetist and this report reviews our experience. METHODS: We retrospectively reviewed the anaesthesia and MRI records of all patients who had undergone cardiac MRI between January 2000 and October 2002. RESULTS: A total of 250 children with cardiac disease underwent general anaesthesia for cardiac MRI. ASA classification included class I, 2%; class II; 26%; class III, 60% and class IV, 12%. A total of 168 patients (67%) had undergone previous cardiac surgery, 182 patients (94%) were discharged the same day and 48 patients (19.2%) had cyanotic cardiac defects (SpO2 between 55 and 85%). No scans were interrupted because of low oxygen saturation during breath-hold or haemodynamic instability. No patient was admitted to the hospital from complications related to general anaesthesia, but one inhouse patient from the cardiology ward was admitted to the cardiac intensive care unit (CICU) after the MRI because of cyanosis and low cardiac output. Seven patients from the CICU were on inotropic infusions when they underwent the MRI procedure and two others needed inotropic support after induction of anaesthesia. Five patients had a brief episode of hypotension during the MRI and responded quickly to interventions. CONCLUSION: Our experience demonstrates that general anaesthesia for cardiac MRI can be provided safely in infants and small children with CHD, despite the complexity and pathophysiology of many defects, the frequent breath-holding for image acquisitions and the MRI environment.