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1.
Prenat Diagn ; 44(6-7): 821-831, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38708840

RESUMO

OBJECTIVES: To determine the incremental yield of prenatal exome sequencing (PES) over standard testing in fetuses with an isolated congenital heart abnormality (CHA), CHA associated with extra-cardiac malformations (ECMs) and CHA dependent upon anatomical subclassification. METHODS: A systematic review of the literature was performed using MEDLINE, EMBASE, Web of Science and grey literature January 2010-February 2023. Studies were selected if they included greater than 20 cases of prenatally diagnosed CHA when standard testing (QF-PCR/chromosome microarray/karyotype) was negative. Pooled incremental yield was determined. PROSPERO CRD 42022364747. RESULTS: Overall, 21 studies, incorporating 1957 cases were included. The incremental yield of PES (causative pathogenic and likely pathogenic variants) over standard testing was 17.4% (95% CI, 13.5%-21.6%), 9.3% (95% CI, 6.6%-12.3%) and 35.9% (95% CI, 21.0%-52.3%) for all CHAs, isolated CHAs and CHAs associated with ECMs. The subgroup with the greatest yield was complex lesions/heterotaxy; 35.2% (95% CI 9.7%-65.3%). The most common syndrome was Kabuki syndrome (31/256, 12.1%) and most pathogenic variants occurred de novo and in autosomal dominant (monoallelic) disease causing genes (114/224, 50.9%). CONCLUSION: The likelihood of a monogenic aetiology in fetuses with multi-system CHAs is high. Clinicians must consider the clinical utility of offering PES in selected isolated cardiac lesions.


Assuntos
Sequenciamento do Exoma , Cardiopatias Congênitas , Diagnóstico Pré-Natal , Humanos , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/diagnóstico , Feminino , Gravidez , Sequenciamento do Exoma/métodos , Diagnóstico Pré-Natal/métodos
2.
Pediatr Surg Int ; 39(1): 12, 2022 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-36441283

RESUMO

INTRODUCTION: Exomphalos is an anterior abdominal wall defect resulting in herniation of contents into the umbilical cord. Severe associated chromosomal anomalies and congenital heart disease (CHD) are known to influence mortality, but it is not clear which cardiac anomalies have the greatest impact on survival. METHODS: We performed a retrospective review of the treatment and outcome of patients with exomphalos over a 30-year period (1990-2020), with a focus on those with the combination of exomphalos major and major CHD (EMCHD). RESULTS: There were 123 patients with exomphalos identified, 59 (48%) had exomphalos major (ExoMaj) (defect > 5 cm or containing liver), and 64 (52%) exomphalos minor (ExoMin). In the ExoMaj group; 17% had major CHD (10/59), M:F 28:31, 29% premature (< 37 weeks, 17/59) and 14% had low birth-weight (< 2.5 kg, 8/59). In the ExoMin group; 9% had major CHD (6/64), M:F 42:22, 18% premature and 10% had low birth-weight. The 5-year survival was 20% in the EMCHD group versus 90% in the ExoMaj with minor or no CHD [p < 0.0001]. Deaths in the EMCHD had mainly right heart anomalies and all of them required mechanical ventilation (MV) for pulmonary hypoplasia prior to cardiac intervention. In contrast, survivors did not require mechanical ventilation prior to cardiac intervention. CONCLUSION: EMCHD is associated with high mortality. The most significant finding was high mortality in those with right heart anomalies in combination with pulmonary hypoplasia, especially if pre-intervention mechanical ventilation is required.


Assuntos
Cardiopatias Congênitas , Hérnia Umbilical , Nascimento Prematuro , Humanos , Feminino , Hérnia Umbilical/terapia , Aberrações Cromossômicas , Respiração Artificial
4.
Ultrasound Obstet Gynecol ; 40(3): 310-8, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22262371

RESUMO

OBJECTIVES: To investigate whether prenatal screening is effective in the detection of total anomalous pulmonary venous connection (TAPVC) and to identify common prenatal features. METHODS: This was a retrospective collaborative study involving 19 pediatric cardiac centers in the UK, Ireland and Sweden. Cases with TAPVC born between January 1, 1998 and December 31, 2004, and prenatally diagnosed cases whose estimated dates of delivery were within this time frame, were identified. Cases with functionally univentricular circulation or atrial isomerism were excluded. All available data and stored images were reviewed. RESULTS: Four-hundred and twenty-four cases with TAPVC were identified prenatally or postnatally, of whom eight (1.9%) had a prenatal diagnosis of TAPVC. Median gestational age at fetal diagnosis was 26 + 6 (range, 22 + 4 to 32 + 0) weeks. Six further fetuses with TAPVC had an abnormality diagnosed on prenatal ultrasound, but not the TAPVC. This included other congenital heart defects (four cases) and isolated pleural effusion (two cases). Seventeen (4.0%) of the 422 liveborn infants had a first-degree relative with congenital heart disease; and six of 17 had a sibling with TAPVC. Two died in utero. Of the liveborn infants diagnosed prenatally with TAPVC, none required urgent intervention for pulmonary venous obstruction and all were alive and well at a median of 2.3 (range, 1.0-7.0) years after surgical repair. CONCLUSION: Prenatal diagnosis of TAPVC is infrequent using current screening methods. Where there is a family history of TAPVC, specialized fetal echocardiography at 20 and 28 weeks' gestation may be indicated.


Assuntos
Ecocardiografia/métodos , Cardiopatias Congênitas/diagnóstico por imagem , Diagnóstico Pré-Natal/métodos , Síndrome de Cimitarra/diagnóstico por imagem , Feminino , Humanos , Irlanda , Gravidez , Estudos Retrospectivos , Síndrome de Cimitarra/epidemiologia , Suécia , Reino Unido
5.
Heart ; 95(23): 1944-9, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19737738

RESUMO

OBJECTIVE: To describe clinical features, morphology, management and outcome of pulmonary vein stenosis (PVS) in childhood. DESIGN AND SETTING: Retrospective international collaborative study involving 19 paediatric cardiology centres in the UK, Ireland and Sweden. PATIENTS: Cases of PVS presenting between 1 January 1995 and 31 December 2004 were identified. Cases where pulmonary veins connected to a morphological left atrium were included. Functionally univentricular hearts and total anomalous pulmonary venous connection were excluded. All available data and imaging were reviewed. RESULTS: 58 cases were identified. In 22 cases (38%) there was premature delivery. 46 (79%) had associated cardiac lesions; 16 (28%) had undergone previous cardiac surgery before PVS diagnosis. 16 children (28%) had a syndrome or significant extracardiac abnormality. 36 presented with unilateral disease of which 86% was on the left. Where there was adequate sequential imaging, disease progression was shown with discrete stenosis leading to diffusely small pulmonary veins. Collateral vessels often developed. 13 patients had no intervention. Initial intervention was by catheter in 17 and surgery in 28. Overall 3-year survival was 49% (95% CI 35% to 63%) with patients undergoing initial surgical intervention having greater freedom from death or re-intervention (hazard ratio 0.44, 95% CI 0.2 to 0.99, p = 0.023). CONCLUSIONS: PVS is a complex disease of uncertain cause and frequently associated with prematurity. Early intervention may be indicated to deter irreversible secondary changes.


Assuntos
Doenças do Prematuro/patologia , Doenças do Prematuro/terapia , Pneumopatia Veno-Oclusiva/patologia , Pneumopatia Veno-Oclusiva/terapia , Adolescente , Criança , Pré-Escolar , Constrição Patológica/mortalidade , Constrição Patológica/patologia , Constrição Patológica/terapia , Progressão da Doença , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/mortalidade , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/mortalidade , Irlanda , Estimativa de Kaplan-Meier , Masculino , Veias Pulmonares/anormalidades , Veias Pulmonares/patologia , Pneumopatia Veno-Oclusiva/etiologia , Estudos Retrospectivos , Suécia , Resultado do Tratamento , Reino Unido
6.
Heart ; 92(6): 815-20, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16278274

RESUMO

OBJECTIVE: To determine the safety and effectiveness of cutting balloon angioplasty for pulmonary vein stenosis (PVS). DESIGN AND SETTING: Retrospective review of case notes and cardiac catheterisation data at the Royal Brompton Hospital. MAIN OUTCOME MEASURES: Diameter of pulmonary vein, tricuspid regurgitant jet velocity on echocardiogram, and percutaneous oxygen saturation before and after cutting balloon angioplasty. RESULTS: Three patients had congenital PVS and three had PVS associated with total anomalous pulmonary venous drainage. A total of 27 PVSs were treated during 12 catheterisation procedures. Median patient age at the time of procedure was 12.5 months (range 1.5-36 months) and weight was 7.1 kg (range 2.8-11.1 kg). Minimum pulmonary vein diameter increased significantly on angiography after cutting balloon angioplasty, from mean (SD) 2.3 (0.7) mm to 4.2 (1.9) mm, mean of differences 1.9 mm (95% confidence interval (CI) 0.9 to 2.9 mm, p = 0.0013). Mean (SD) oxygen saturation rose from 79.6 (12.9)% to 83.9 (9.0)%, mean of differences 4.3% (95% CI 0.7% to 8.0%, p = 0.0238). All children's symptoms improved subjectively. Tricuspid regurgitant jet velocity did not change significantly. The longest time interval before repeat intervention was six months. There were no acute deaths; one patient had a small pulmonary haemorrhage and developed a small aneurysm adjacent to the site of angioplasty. CONCLUSION: Cutting balloon angioplasty is safe in the palliation of PVS in children. It gives some acute relief but often needs to be repeated, as improvement is rarely sustained.


Assuntos
Angioplastia com Balão/métodos , Pneumopatia Veno-Oclusiva/terapia , Angioplastia com Balão/efeitos adversos , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento
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