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1.
Interact Cardiovasc Thorac Surg ; 28(4): 510-517, 2019 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-30371784

RESUMO

OBJECTIVES: Despite Fontan surgery showing improved results, fluid accumulation and oedema formation with pleural effusion are major challenges. Transcapillary fluid balance is dependent on hydrostatic and colloid osmotic pressure (COP) gradients; however, the COP values are not known for Fontan patients. The aim of this study was to evaluate the COP of plasma (COPp) and interstitial fluid (COPi) in children undergoing bidirectional cavopulmonary connection and total cavopulmonary connection. METHODS: This study was designed as a prospective, observational study. Thirty-nine children (age 3 months-4.9 years) undergoing either bidirectional cavopulmonary connection or total cavopulmonary connection procedures were included. Blood samples and interstitial fluid were obtained prior to, during and after the preoperative cardiac catheterization and surgery with the use of cardiopulmonary bypass (CPB). Interstitial fluid was harvested using the wick method when the patient was under general anaesthesia. Plasma and interstitial fluid were measured by a colloid osmometer. Baseline values were compared with data from healthy controls. RESULTS: Baseline COPp was 20.6 ± 2.8 and 22.0 ± 3.2 mmHg and COPi was 11.3 ± 2.6 and 12.5 ± 3.5 mmHg in the bidirectional cavopulmonary connection group and the total cavopulmonary connection group, respectively. These values were significantly lower than in healthy controls. The COPp was slightly reduced throughout both procedures and normalized after surgery. The COPi increased slightly during the use of CPB and significantly decreased after surgery, resulting in an increased COP gradient and was correlated to pleural effusion. CONCLUSIONS: Fluid accumulation seen after Fontan surgery is associated with changes in COPs, determinants for fluid filtration and lymphatic flow. CLINICALTRIALS.GOV IDENTIFIER: NCT 02306057: https://clinicaltrials.gov/ct2/results?cond=&term=NCT+02306057.


Assuntos
Edema/epidemiologia , Técnica de Fontan/efeitos adversos , Pressão Osmótica , Derrame Pleural/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Cateterismo Cardíaco , Ponte Cardiopulmonar , Criança , Pré-Escolar , Coloides/uso terapêutico , Líquido Extracelular , Feminino , Humanos , Lactente , Masculino , Plasma , Estudos Prospectivos , Artéria Pulmonar/cirurgia , Equilíbrio Hidroeletrolítico
2.
Interact Cardiovasc Thorac Surg ; 26(2): 307-312, 2018 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-29049836

RESUMO

OBJECTIVES: Following paediatric cardiac surgery with cardiopulmonary bypass (CPB), there is a tendency for fluid accumulation. The colloid osmotic pressure of plasma (COPp) and interstitial fluid (COPi) are determinants of transcapillary fluid exchange but only COPp has been measured in sick children. The aim of this study was to assess the net colloid osmotic pressure gradient in children undergoing atrial septal defect closure. METHODS: Twenty-three patients had interventional and 18 had surgical atrial septal defect closures. Interstitial fluid was harvested using a wick method before and after surgery with CPB with concomitant blood samples. COP was measured using a colloid osmometer for small fluid samples. Baseline COP was compared with data from healthy children. RESULTS: COPp at baseline was 21.9 ± 2.8 and 21.4 ± 2.2 mmHg in the interventional and surgical groups, respectively, and was significantly lower than in healthy children (25.5 ± 3.1 mmHg) (P < 0.001). In the surgical group, the use of CPB significantly reduced COPp to 16.9 ± 2.9 mmHg (P < 0.001) and the colloid osmotic gradient [ΔCOP (COPp - COPi)] to 2.9 ± 3.8 mmHg (P < 0.001) compared with interventional procedure. One hour after the procedure, COPi was 15.6 ± 3.8 mmHg and 9.9 ± 2.1 mmHg (P < 0.001) and the ΔCOP was 5.4 ± 3.0 mmHg and 9.1 ± 3.1 mmHg (P < 0.003) in the interventional and surgical groups, respectively. CONCLUSIONS: Baseline COPp and COPi were lower in atrial septal defect patients compared with healthy children. The significantly lower COP gradient during CPB may explain the tendency for more fluid accumulation with pericardial effusion in the surgical group. The increased COP gradient after CPB may represent an oedema-preventive mechanism.


Assuntos
Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Coloides/química , Edema/diagnóstico , Comunicação Interatrial/cirurgia , Complicações Pós-Operatórias , Pré-Escolar , Estudos Transversais , Ecocardiografia , Edema/etiologia , Edema/metabolismo , Feminino , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/fisiopatologia , Humanos , Masculino , Pressão Osmótica , Estudos Prospectivos
3.
PLoS One ; 10(4): e0122779, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25853713

RESUMO

OBJECTIVE: The colloid osmotic pressure (COP) of plasma and interstitial fluid play important roles in transvascular fluid exchange. COP values for monitoring fluid balance in healthy and sick children have not been established. This study set out to determine reference values of COP in healthy children. MATERIALS AND METHODS: COP in plasma and interstitial fluid harvested from nylon wicks was measured in 99 healthy children from 2 to 10 years of age. Nylon wicks were implanted subcutaneously in arm and leg while patients were sedated and intubated during a minor surgical procedure. COP was analyzed in a colloid osmometer designed for small fluid samples. RESULTS: The mean plasma COP in all children was 25.6 ± 3.3 mmHg. Arbitrary division of children in four different age groups, showed no significant difference in plasma or interstitial fluid COP values for patients less than 8 years, whereas patients of 8-10 years had significant higher COP both in plasma and interstitial fluid. There were no gender difference or correlation between COP in interstitial fluid sampled from arm and leg and no significant effect on interstitial COP of gravity. Prolonged implantation time did not affect interstitial COP. CONCLUSION: Plasma and interstitial COP in healthy children are comparable to adults and COP seems to increase with age in children. Knowledge of the interaction between colloid osmotic forces can be helpful in diseases associated with fluid imbalance and may be crucial in deciding different fluid treatment options. TRIAL REGISTRATION: ClinicalTrials.gov NCT01044641.


Assuntos
Líquido Extracelular/fisiologia , Pressão Osmótica/fisiologia , Plasma/fisiologia , Adulto , Criança , Pré-Escolar , Coloides , Espaço Extracelular/fisiologia , Feminino , Humanos , Masculino , Manejo de Espécimes/métodos
4.
Echocardiography ; 32(1): 34-41, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24702696

RESUMO

BACKGROUND: Flow visualization before transcatheter atrial septal defect (ASD) closure is essential to identify the number and size of ASDs and to map the pulmonary veins (PV). Previous reports have shown improved visualization of ASD and PV using blood flow imaging (BFI), which supplements color Doppler imaging (CDI) with angle-independent information of flow direction. In this study, we compared transesophageal BFI with the current references in ASD sizing (balloon stretched diameter, BSD) and PV imaging (pulmonary angiography). METHODS: In this prospective study, 28 children were examined with transesophageal echocardiography (TEE) including BFI of the secundum ASD and the PV before interventional ASD closure. The maximum ASD diameter measured with BFI by 4 observers was compared to the corresponding BSD and CDI measurements. The repeatability of the BFI measurements was calculated as the residual standard deviation. BFI of the PV was compared to PV angiography. RESULTS: The mean maximum diameter measured by BFI was 12.1 mm (±SD 2.4 mm). The corresponding BSD and CDI measurements were 15.9 mm (±SD 3.0 mm) and 11.8 mm (±SD 2.5 mm), respectively. The residual standard deviation was 1.2 mm. Compared to PV angiography, the sensitivity of BFI in detecting the correct entry of the PV was 0.96 (95% CI: 0.82-1.0). CONCLUSION: Transesohageal echocardiography with BFI of the PV agreed well with pulmonary angiography. BFI had lower estimates for ASD size than BSD, but with acceptable 95% limits of agreement. The repeatability of the BFI measurements was close to the inherent ultrasound measurement error.


Assuntos
Velocidade do Fluxo Sanguíneo , Ecocardiografia Transesofagiana/normas , Comunicação Interatrial/diagnóstico por imagem , Comunicação Interatrial/fisiopatologia , Veias Pulmonares/diagnóstico por imagem , Veias Pulmonares/fisiopatologia , Criança , Pré-Escolar , Feminino , Comunicação Interatrial/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Noruega , Cuidados Pré-Operatórios , Valores de Referência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
5.
World J Pediatr Congenit Heart Surg ; 5(4): 534-40, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25324250

RESUMO

OBJECTIVES: From a population of 90 patients after pulmonary valve replacement with a biological valve (Carpentier-Edwards Perimount valve), 56 of 80 available patients were examined five years after surgery. BACKGROUND: Pulmonary valve replacement is needed in many patients with congenital heart disease. Homografts have limited availability and predictable degeneration, and mechanical valves require anticoagulation. No superiority of one kind of pulmonary valve replacement has been shown. Biological valves that are readily available are being used and evaluated in increasing numbers. METHODS: In this cross-sectional study, five years following surgery, data were gathered from hospital charts, echocardiography, stress echocardiography, magnetic resonance imaging, and exercise testing. RESULTS: In 90 patients, there were three new valve replacements, one early cardiac death, and four late noncardiac deaths. Echocardiographic assessment of the study group showed pulmonary Doppler velocities (m/s) before, after operation, and at five-year follow-up of 2.8±1.1, 1.6±0.4, and 2.3±0.7, respectively. The assessed insufficiencies (0-3) at the same times were 2.3±1.0, 0.3±0.4, and 1.1±0.8. Maximal oxygen uptake increased from 65.6%±10.1% to 77.1%±18.2% of predicted and QRS width increased by 7±23 ms. Valve degeneration could be associated with young age but not with diagnosis or valve size. CONCLUSION: In our study, the biological valve in the pulmonary position showed excellent mid-term results with few reoperations, low gradients, and mild to moderate insufficiency. Oversizing, in contrast to young age, was not a risk factor for valve degeneration. In younger patients, this allows later percutaneous replacement, reducing the need for further surgery. However, longer follow-up is needed.


Assuntos
Bioprótese , Doenças das Valvas Cardíacas/cirurgia , Implante de Prótese de Valva Cardíaca , Próteses Valvulares Cardíacas , Valva Pulmonar/cirurgia , Adolescente , Adulto , Criança , Estudos Transversais , Seguimentos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/cirurgia , Doenças das Valvas Cardíacas/complicações , Humanos , Resultado do Tratamento , Adulto Jovem
6.
Congenit Heart Dis ; 9(4): 333-42, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25247215

RESUMO

OBJECTIVES: A technique that uses two-dimensional images to create a knowledge-based, three-dimensional model was tested and compared to magnetic resonance imaging. BACKGROUND: Measurement of right ventricular volumes and function is important in the follow-up of patients after pulmonary valve replacement. Magnetic resonance imaging is the gold standard for volumetric assessment. Echocardiographic methods have been validated and are attractive alternatives. METHODS: Thirty patients with tetralogy of Fallot (25 ± 14 years) after pulmonary valve replacement were examined. Magnetic resonance imaging volumetric measurements and echocardiography-based three-dimensional reconstruction were performed. End-diastolic volume, end-systolic volume, and ejection fraction were measured, and the results were compared. RESULTS: Magnetic resonance imaging measurements gave coefficient of variation in the intraobserver study of 3.5, 4.6, and 5.3 and in the interobserver study of 3.6, 5.9, and 6.7 for end-diastolic volume, end-systolic volume, and ejection fraction, respectively. Echocardiographic three-dimensional reconstruction was highly feasible (97%). In the intraobserver study, the corresponding values were 6.0, 7.0, and 8.9 and in the interobserver study 7.4, 10.8, and 13.4. In comparison of the methods, correlations with magnetic resonance imaging were r = 0.91, 0.91, and 0.38, and the corresponding coefficient of variations were 9.4, 10.8, and 14.7. Echocardiography derived volumes (mL/m(2)) were significantly higher than magnetic resonance imaging volumes in end-diastolic volume 13.7 ± 25.6 and in end-systolic volume 9.1 ± 17.0 (both P < .05). CONCLUSIONS: The knowledge-based three-dimensional right ventricular volume method was highly feasible. Intra and interobserver variabilities were satisfactory. Agreement with magnetic resonance imaging measurements for volumes was reasonable but unsatisfactory for ejection fraction. Knowledge-based reconstruction may replace magnetic resonance imaging measurements for serial follow-up, whereas magnetic resonance imaging should be used for surgical decision making.


Assuntos
Ecocardiografia/métodos , Implante de Prótese de Valva Cardíaca , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Interpretação de Imagem Assistida por Computador , Imageamento Tridimensional , Bases de Conhecimento , Imageamento por Ressonância Magnética , Valva Pulmonar/cirurgia , Tetralogia de Fallot/cirurgia , Função Ventricular Direita , Adolescente , Adulto , Criança , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Valor Preditivo dos Testes , Estudos Prospectivos , Valva Pulmonar/anormalidades , Valva Pulmonar/fisiopatologia , Reprodutibilidade dos Testes , Volume Sistólico , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/fisiopatologia , Resultado do Tratamento , Adulto Jovem
7.
Pediatr Nephrol ; 27(9): 1565-74, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22527532

RESUMO

BACKGROUND: Renal transplantation improves left ventricular (LV) function, but cardiovascular mortality remains elevated. The aim of this cross-sectional study was to determine whether subclinical abnormalities of LV longitudinal function also persist in patients who underwent renal transplant in childhood. METHODS: Conventional and speckle tracking echocardiography was performed in 68 renal transplant recipients (34 children and 34 adults, median 9.8 years (range 2.0-28.4 years) after first transplantation and 68 age- and sex-matched healthy controls. RESULTS: Mean age at first transplantation was 8.8 ± 4.8 years. Forty-three percent had a pre-emptive transplant. Of the remaining, 70% received haemodialysis and 30% peritoneal dialysis on average for 6.9 months. Thirty-one percent of paediatric and 35% of adult patients had hypertension. LV mass index was increased in adult patients (92 ± 24 vs 75 ± 11 g/m(2), P< 0.01). LV diastolic function and exercise capacity were impaired in both paediatric and adult patients. LV longitudinal peak systolic strain and strain rate were comparable in patients and controls. In multivariate analysis, systolic blood pressure and LV diastolic relaxation were the main covariates of LV peak systolic strain and strain rate (all P < 0.01). CONCLUSIONS: Patients who underwent renal transplantation in childhood have abnormal LV diastolic function and impaired exercise capacity, despite preserved LV longitudinal systolic deformation.


Assuntos
Transplante de Rim/efeitos adversos , Disfunção Ventricular Esquerda/etiologia , Função Ventricular Esquerda/fisiologia , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Ecocardiografia , Humanos , Transplante de Rim/diagnóstico por imagem , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/epidemiologia , Disfunção Ventricular Esquerda/fisiopatologia , Adulto Jovem
8.
Scand Cardiovasc J ; 45(1): 41-7, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21070125

RESUMO

UNLABELLED: In a retrospective study we assessed surgical results following right ventricular to pulmonary artery connection repair or replacement at a medium of 2.4 years (0-8) follow-up. Data were retrieved from hospital charts. RESULTS: Three hundred and sixty five operations were performed in 286 patients in eight years starting in 2000 using different surgical methods. Homografts and Monocusps had a more than 50% significantly lower risk for reoperation than Contegra or bicuspid valves (p < 0.01). Data for infants and older children and grown ups were analysed separately. In the infant group no significant difference between the different methods (homograft, Contegra and Monocusp) was detected. In older patients, the Perimount valves performed extremely well with no need for reoperation after 2.5 years of follow-up. Perimount valves and homografts performed better than other solutions (p = 0.01). CONCLUSION: Although the follow-up for the Perimount valves was short, they are promising and need to be followed long-term. The homograft and the Monocusp remain valuable choices.


Assuntos
Bioprótese , Implante de Prótese de Valva Cardíaca/métodos , Próteses Valvulares Cardíacas , Valva Pulmonar/cirurgia , Obstrução do Fluxo Ventricular Externo/cirurgia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Seguimentos , Humanos , Lactente , Pessoa de Meia-Idade , Valva Pulmonar/anormalidades , Insuficiência da Valva Pulmonar/cirurgia , Estenose da Valva Pulmonar/cirurgia , Reoperação , Estudos Retrospectivos , Medição de Risco , Transplante Homólogo , Resultado do Tratamento , Adulto Jovem
9.
Tidsskr Nor Laegeforen ; 130(8): 834-8, 2010 Apr 22.
Artigo em Norueguês | MEDLINE | ID: mdl-20418929

RESUMO

BACKGROUND: About 25 % of the population has patent foramen ovale, and the condition has been assumed to be a causal factor in decompressive illness. Transcatheter closure is possible and is associated with a relatively low risk, but it has not been clarified whether there is an indication for assessment and treatment of the condition in divers. The present study explored a possible relationship between a patent foramen ovale and the risk for decompression illness in divers, if there are categories of divers that should be screened for the condition and what advice should be given to divers with this condition. MATERIAL AND METHODS: The review is based on literature identified through a search in Pubmed and the authors' long clinical experience in the field. RESULTS: The risk of decompression illness for divers with a persistent foramen ovale is about five times higher than that in divers without this condition, but the absolute risk for decompression illness is only 2.5 after 10,000 dives. A causal association has not been shown between patent foramen ovale and decompression illness. Even if closure of patent foramen ovale may be done with relatively small risk, the usefulness of the procedure has not been documented in divers. INTERPRETATION: We do not recommend screening for patent foramen ovale in divers because the absolute risk of decompression illness is small and transcatheter closure is only indicated after decompression illness in some occupational divers.


Assuntos
Doença da Descompressão/etiologia , Mergulho/lesões , Forame Oval Patente/complicações , Ecocardiografia Transesofagiana , Forame Oval Patente/diagnóstico , Forame Oval Patente/terapia , Humanos , Saúde Ocupacional , Fatores de Risco
11.
Tidsskr Nor Laegeforen ; 129(21): 2219-22, 2009 Nov 05.
Artigo em Norueguês | MEDLINE | ID: mdl-19898568

RESUMO

BACKGROUND: After the neonatal period, the incidence of arterial cerebral infarction is 1-2/100 000 children/year. Thrombolysis in cerebral stroke is recommended for adults, but is still controversial for children. The aim of this paper was to provide an overview of documentation on treatment with thrombolysis after arterial cerebral infarction in children. MATERIAL AND METHODS: The article is based on literature identified through a non-systematic search in PubMed and own clinical experience in treating young adults with cerebral infarction. RESULTS: In the western world cardiac disease, cardiac interventions and infections are the most important causes of cerebral infarction in children. Children with arterial cerebral infarction should initially be treated as adults, i.e. rapid admission to hospital and immediate imaging, preferably magnetic resonance imaging with diffusion and intracranial angiography. There are no randomized controlled trials of efficacy and safety of thrombolysis in cerebral infarction in children. Thrombolysis is normally not recommended for children because of the lack of scientific evidence. Nevertheless, thrombolysis is used in children with cerebral infarction and case reports are available. INTERPRETATION: The prospect of severe disability should lead to consideration of thrombolysis if age below 18 years is the only contraindication. Treatment of children with thrombolysis should be recorded in an international registry.


Assuntos
Infarto Cerebral/tratamento farmacológico , Fibrinolíticos/administração & dosagem , Acidente Vascular Cerebral/tratamento farmacológico , Terapia Trombolítica/métodos , Adolescente , Fatores Etários , Infarto Cerebral/complicações , Infarto Cerebral/etiologia , Criança , Pré-Escolar , Contraindicações , Fibrinolíticos/efeitos adversos , Humanos , Lactente , Infarto da Artéria Cerebral Média/complicações , Infarto da Artéria Cerebral Média/tratamento farmacológico , Infarto da Artéria Cerebral Média/etiologia , Injeções Intravenosas , Fatores de Risco , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/etiologia , Ativador de Plasminogênio Tecidual/administração & dosagem , Ativador de Plasminogênio Tecidual/efeitos adversos , Resultado do Tratamento , Adulto Jovem
12.
BMJ Case Rep ; 20092009.
Artigo em Inglês | MEDLINE | ID: mdl-21686750

RESUMO

Mutations in genes involved in Ras signalling cause Noonan syndrome and other disorders characterised by growth disturbances and variable neuro-cardio-facio-cutaneous features. We describe two sisters, who presented with dysmorphic features, hypotonia, retarded growth and psychomotor retardation. The patients were initially diagnosed with Costello syndrome, an autosomal recessive inheritance was assumed. Remarkably, however, we identified a germline HRAS mutation (G12A) in one sister and a germline KRAS mutation (F156L) in her sibling. Both mutations had arisen de novo. The F156L mutant K-Ras protein accumulated in the active, guanosine triphosphate-bound conformation and affected downstream signalling. The patient harbouring this mutation was followed for three decades, and her cardiac hypertrophy gradually normalised. However, she developed severe epilepsy with hippocampal sclerosis and atrophy. The occurrence of distinct de novo mutations adds to variable expressivity and gonadal mosaicism as possible explanations of how an autosomal dominant disease may manifest as an apparently recessive condition.

13.
Tidsskr Nor Laegeforen ; 127(18): 2386-7, 2007 Sep 20.
Artigo em Norueguês | MEDLINE | ID: mdl-17941154

RESUMO

A 9-week-year-old boy was admitted to the pediatric clinic after 12 hours of fever and diarrhoea. On admission he had a fever of 40 degrees C, rhinitis and moderate diarrhoea. Blood tests were normal, except for elevated CRP (89 mg/L). The tentative diagnosis was viral gastroenteritis, and peroral rehydration with a hypertone glucose-salt-mixture was started. CRP reached a maximum of 199 mg/L, and the boy stayed febrile throughout the next days. Stool examination revealed Enterovirus. After several clinical examinations, findings included a reactive cervical glandular node and mild conjunctivitis. When the child had been febrile for five days, he was admitted to an echocardiography, which showed dilated coronary arteries with abnormal caliber variations and a small amount of pericardial fluid. Since he fulfilled only three of the five criteria of classical Kawasaki disease, he was diagnosed as having neonatal, incomplete Kawasaki disease. Kawasaki disease is an immunologic vasculitis that appears mainly in children between three months and 12 years of age. Only 2% of patients with Kawasaki disease are less than three months old. Neonates with Kawasaki disease often have an atypical presentation of symptoms and have a particular risk of developing coronary artery aneurysms with potentially fatal outcome. With this case-report we will stress the importance of considering Kawasaki disease in neonates with fever of unknown origin.


Assuntos
Diarreia/diagnóstico , Febre de Causa Desconhecida/diagnóstico , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Diagnóstico Diferencial , Humanos , Lactente , Masculino
14.
J Med Genet ; 44(7): e84, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17601930

RESUMO

Mutations in genes involved in Ras signalling cause Noonan syndrome and other disorders characterised by growth disturbances and variable neuro-cardio-facio-cutaneous features. We describe two sisters, 46 and 31 years old, who presented with dysmorphic features, hypotonia, feeding difficulties, retarded growth and psychomotor retardation early in life. The patients were initially diagnosed with Costello syndrome, and autosomal recessive inheritance was assumed. Remarkably, however, we identified a germline HRAS mutation (G12A) in one sister and a germline KRAS mutation (F156L) in her sibling. Both mutations had arisen de novo. The F156L mutant K-Ras protein accumulated in the active, guanosine triphosphate-bound conformation and affected downstream signalling. The patient harbouring this mutation was followed for three decades, and her cardiac hypertrophy gradually normalised. However, she developed severe epilepsy with hippocampal sclerosis and atrophy. The occurrence of distinct de novo mutations adds to variable expressivity and gonadal mosaicism as possible explanations of how an autosomal dominant disease may manifest as an apparently recessive condition.


Assuntos
Anormalidades Múltiplas/genética , Mutação em Linhagem Germinativa/genética , Transtornos do Crescimento/genética , Fenótipo , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteínas Proto-Oncogênicas/genética , Proteínas ras/genética , Anormalidades Múltiplas/patologia , Adulto , Animais , Células COS , Chlorocebus aethiops , Análise Mutacional de DNA , Primers do DNA/genética , Face/anormalidades , Feminino , Genes Dominantes/genética , Transtornos do Crescimento/patologia , Cardiopatias Congênitas/genética , Hipocampo/anormalidades , Hipocampo/patologia , Humanos , Immunoblotting , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Linhagem , Proteínas Proto-Oncogênicas/metabolismo , Transdução de Sinais/genética , Anormalidades da Pele/genética , Proteínas ras/metabolismo
15.
Tidsskr Nor Laegeforen ; 125(23): 3256-8, 2005 Dec 01.
Artigo em Norueguês | MEDLINE | ID: mdl-16327848

RESUMO

BACKGROUND: Patients with ventricle septal defect are considered at higher risk of infectious endocarditis than the population in general. According to guidelines, these patients should receive prophylactic antibiotics prior to invasive procedures. Recently, several studies have been published that challenge this view. MATERIAL AND METHODS: Based on searches in Medline, we discuss the risk of endocarditis and indication for antibiotic prophylaxis in patients with this defect. RESULTS: Patients with perimembranous and subvalvular defects have higher risk of endocarditis than the population in general. The proportion of patients developing endocarditis in relation to invasive procedures is low. Prophylactic antibiotics are only partially effective. INTERPRETATION: The proportion of preventable cases of endocarditis is low, and the prophylaxis does not give sufficient protection. Studies suggest that only patients at the highest risk should receive prophylactics.


Assuntos
Endocardite Bacteriana/prevenção & controle , Comunicação Interventricular/microbiologia , Antibioticoprofilaxia , Endocardite Bacteriana/etiologia , Endocardite Bacteriana/microbiologia , Comunicação Interventricular/tratamento farmacológico , Humanos , Guias de Prática Clínica como Assunto , Fatores de Risco
16.
Catheter Cardiovasc Interv ; 65(4): 556-63, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16010688

RESUMO

Perforating radiofrequency (PRF) energy has been used to obtain percutaneous transseptal left heart access. Contrary to ablative radiofrequency (RF), myocardial tissue responses to PRF thermal injury are incompletely defined. In this study, a newly developed RF catheter system for transseptal left atrial entry was compared with conventional needle puncture. Of 15 piglets having transfemoral cardiac catheterization, 12 had transseptal procedures. Needle punctures (NP) and PRF were followed by acute (1 hr; 3 NP, 3 PRF) and chronic necropsy (1 month; 3 NP, 3 PRF). The remaining three piglets had intentional RF aortic perforation through the atrial roof with necropsy at 1 month. Gross and histopathological effects were examined. Acutely, the gross RF lesion was similar to needle puncture. Histologically, the RF lesions had minimal mural thrombus, an inner zone of thermal injury characterized by grayish cytoplasmic staining (elastic trichrome), and a bubbly transformation of the cytoplasm in innermost cardiomyocytes, partial persistence of cross-striations, and an acute inflammatory reaction. The outer extent of the lesion (< 1 mm) was defined by a halo of contraction band necrosis similar to needle puncture. Acute NP injury showed comparable depth and extent of myocyte necrosis (principally contraction bands) with adjacent tissue hemorrhage and edema. At 1 month, a well-developed densely collagenous scar was present in both aortic and transseptal PRF lesions. The extent of acute RF injury is similar to that seen in conventional NP, but the characteristics of tissue insult are different. Both show well-developed healing at 1 month.


Assuntos
Ablação por Cateter , Septos Cardíacos/cirurgia , Agulhas , Punções , Animais , Aorta/patologia , Aorta/cirurgia , Ablação por Cateter/instrumentação , Modelos Animais de Doenças , Átrios do Coração/patologia , Átrios do Coração/cirurgia , Septos Cardíacos/patologia , Modelos Cardiovasculares , Músculo Liso Vascular/patologia , Miocárdio/patologia , Miócitos Cardíacos/patologia , Necrose , Punções/instrumentação , Suínos
17.
Tidsskr Nor Laegeforen ; 125(8): 996-8, 2005 Apr 21.
Artigo em Norueguês | MEDLINE | ID: mdl-15852069

RESUMO

BACKGROUND: Heart murmurs in infants and children are common, and in most cases these are physiological murmurs. In a few cases they represent congenital heart disease; it is important to detect those few children by referral to paediatric cardiologists. MATERIAL: 220 consecutive children with heart murmur were investigated prospectively as outpatients in the Children's clinic, Haukeland University Hospital from January through December 2001. Referrals were from general practitioners (n = 157), paediatricians or residents at the Children's clinic (n = 51), and from one community-based paediatrician (n = 12). The purpose was to assess the referrals for completeness and judgment before cardiological assessment. Our second goal was to see if the paediatric cardiologist could differentiate between innocent and pathological murmurs by history and clinical assessment only. RESULTS: 22 (10%) of the referred patients had congenital heart defects. They had been through a complete clinical assessment by 38.9% of the general practitioners and 83.3% by the community-based paediatrician (p = 0.0001). A conclusion regarding diagnosis before hospital evaluation was reached in only 17.8% of the patients by the general practitioners and in 50% by the paediatricians (p < 0.0001). The diagnostic accuracy of the clinical evaluation by the paediatric cardiologists had a sensitivity of 81.5%, specificity of 98.5%, positive and negative predictive values of 88 and 97.5%, respectively. Two patients with significant atrial septum defect would have been missed by clinical assessment only. INTERPRETATION: Skills in clinical assessment of heart murmurs in infants and children can be improved among general practitioners and paediatricians in training. Paediatric cardiologists can differentiate between physiological and pathologic murmurs by clinical evaluation only.


Assuntos
Sopros Cardíacos/diagnóstico , Padrões de Prática Médica , Encaminhamento e Consulta , Adolescente , Criança , Pré-Escolar , Competência Clínica , Ecocardiografia Doppler , Medicina de Família e Comunidade , Sopros Cardíacos/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Pediatria , Estudos Prospectivos , Sensibilidade e Especificidade
18.
Tidsskr Nor Laegeforen ; 125(8): 1000-3, 2005 Apr 21.
Artigo em Norueguês | MEDLINE | ID: mdl-15852070

RESUMO

BACKGROUND: Many normal children have heart murmurs, but most children do not have heart disease. Differentiation of innocent murmurs from those due to structural heart disease, pathological murmurs, is largely clinical. MATERIAL AND METHODS: This review is based upon the authors' own studies and PubMed searches. RESULTS: An appropriate history and a properly conducted physical examination can identify children at risk of significant heart disease. INTERPRETATION: If a murmur cannot clearly be labelled as innocent based on characteristics like sound quality, intensity, location and response to posture, then referral to a paediatric cardiologist is indicated. Other indications for referral are any sign or symptom of cardiovascular disease such as shortness of breath, cyanosis or decreased exercise tolerance. In addition, children with syndromes should, because of their high risk of congenital heart disease, be referred to a paediatric cardiologist for further evaluation.


Assuntos
Sopros Cardíacos/diagnóstico , Criança , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Sopros Cardíacos/genética , Sopros Cardíacos/fisiopatologia , Humanos , Exame Físico , Guias de Prática Clínica como Assunto , Encaminhamento e Consulta
19.
Eur J Appl Physiol ; 93(1-2): 116-23, 2004 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-15549367

RESUMO

Coarctation of the aorta represents 5-7% of congenital heart defects. Symptoms and prognosis depend on the degree of stenosis, age at surgery, surgical method and the presence of other heart defects. Postoperative complications are hypertension, restenosis and an abnormal blood pressure response during exercise. This study includes 41 patients, 15-40 years old, operated in the period 1975-1996. All were exercised on a treadmill until maximal oxygen consumption was achieved. Blood pressure was measured in the right arm and leg before and immediately after exercise, and in the right arm during exercise. Oxygen consumption was monitored and we defined an aerobic phase, an isocapnic buffering phase and a hypocapnic hyperventilation phase. The resting systolic blood pressure correlates with the resting systolic blood pressure difference between right arm and leg. A resting systolic blood pressure difference between the right arm and leg of 0.13 kPa (1 mmHg) to 2.67 kPa (20 mmHg) corresponds with a slight increase in resting systolic blood pressure. This rise in blood pressure increases the aerobic phase of the exercise test, helping the patients to achieve higher maximal oxygen consumption. A resting systolic blood pressure difference of more than 2.67 kPa (20 mmHg) corresponds with severe hypertension and causes reduction in the aerobic phase and maximal oxygen consumption. Resting systolic blood pressure and resting systolic blood pressure difference between the right arm and leg are not indicators for blood pressure response during exercise. Exercise testing is important to reveal exercise-induced hypertension and to monitor changes in transition from aerobic to anaerobic exercise and limitation to exercise capacity.


Assuntos
Coartação Aórtica/fisiopatologia , Coartação Aórtica/cirurgia , Braço/fisiopatologia , Pressão Sanguínea , Teste de Esforço/métodos , Hipertensão/fisiopatologia , Perna (Membro)/fisiopatologia , Resistência Física , Adolescente , Adulto , Braço/irrigação sanguínea , Feminino , Humanos , Hipertensão/diagnóstico , Perna (Membro)/irrigação sanguínea , Masculino , Esforço Físico , Aptidão Física
20.
Tidsskr Nor Laegeforen ; 124(13-14): 1764-6, 2004 Jul 01.
Artigo em Norueguês | MEDLINE | ID: mdl-15229661

RESUMO

BACKGROUND: Few patients with Kawasaki's syndrome have been described in Norway. Different aspects of diagnosis and treatment are assessed in this article. MATERIAL AND METHODS: We retrospectively reviewed 26 cases of Kawasaki's syndrome at Haukeland University Hospital 1985-1999. RESULTS: 85% of the patients fulfilled all criteria for diagnosis and were treated as recommended; yet we found a high frequency of coronary aneurysms (22%). Children with aneurysms had delayed onset of treatment compared to patients without complications. Infants were treated later and had a higher incidence of aneurysms. Laboratory findings differed among infants and older children, and in patients with or without aneurysms. INTERPRETATION: Kawasaki's syndrome is still a clinical diagnosis. Laboratory tests may, however, help to identify patients with high risk of complications. Infants should be followed carefully in the acute phase of febrile illness and be treated early, even when the presentation is atypical. Early adequate treatment is of vital importance to avoid complications and reduce short and longterm morbidity.


Assuntos
Síndrome de Linfonodos Mucocutâneos , Criança , Pré-Escolar , Aneurisma Coronário/etiologia , Aneurisma Coronário/prevenção & controle , Feminino , Humanos , Lactente , Masculino , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Prognóstico , Estudos Retrospectivos , Fatores de Risco
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