RESUMO
OBJECTIVES: The aims of this study were to review systematically literature on and describe the sonographic features and associated anomalies of total (TAPVC) and partial (PAPVC) anomalous pulmonary venous connection and scimitar syndrome (SS). METHODS: A retrospective cohort study was carried out of cases of TAPVC, PAPVC and SS that underwent comprehensive ultrasound examination, seen over a 20-year period at two tertiary referral centers. Assessed variables included TAPVC subtype, gestational age at diagnosis, area behind the left atrium, ventricular disproportion, vertical vein, pulmonary venous obstruction, mode of diagnosis, association with cardiac and extracardiac conditions, and pregnancy and fetoneonatal outcomes. The outcome was considered favorable if the individual was alive and well (no functional impairment from surgery or cardiac or extracardiac conditions). Cases associated with right isomerism were excluded from the analysis, as TAPVC in these cases was only one of several major cardiac anomalies affecting sonographic signs. A systematic review was performed in order to obtain a synthesis of characteristics associated with TAPVC, PAPVC and SS. The literature search of PubMed and EMBASE (1970-2016) included reviews, case series and case reports. A meta-analysis was conducted only for TAPVC. Random-effects models were used to obtain pooled estimates of the frequencies of clinical characteristics and sonographic features. RESULTS: For TAPVC, a total of 15 studies involving 71 patients (including 13 from the current cohort study) were included in the systematic review and meta-analysis. The pooled estimate for the association of TAPVC with congenital heart disease was 28.3% (95% CI, 18.1-41.3%) and with extracardiac anomalies it was 18.5% (95% CI, 10.5-30.6%). Of TAPVC cases, obstructed venous return was observed in 34.1% (95% CI, 22.7-47.7%), a favorable outcome in 43.8% (95% CI, 24.0-65.8%), ventricular disproportion in 59.2% (95% CI, 45.1-72.0%), increased area behind the left atrium in 58.1% (95% CI, 41.1-73.5%) and a vertical vein in 59.3% (95% CI, 41.1-75.3%). Diagnosis was established by using color or power Doppler in 84.9% (95% CI, 67.3-93.9%) of cases. For SS, there were only three studies describing eight cases, to which the current study added another five. Ventricular disproportion was present in three out of nine SS cases for which data were available, but for two of these, there was a concurrent heart anomaly. Color Doppler was used for all SS diagnoses, and four-dimensional echocardiography was useful in two out of six cases in which it was used. Outcome for SS cases was generally good. For PAPVC, there were only five studies describing five cases, to which the current study added another two. Major cardiac anomalies were associated in four out of seven of these cases, and extracardiac anomalies in three out of six cases for which data were available. CONCLUSIONS: TAPVC can be associated with other cardiac and extracardiac anomalies in a significant percentage of cases. Leading sonographic signs are ventricular disproportion, increased area behind the left atrium and the finding of a vertical vein. Color/power Doppler is the key mode for diagnosis of TAPVC. Obstructed venous return can be expected in roughly one-third of cases of TAPVC and outcome is favorable in less than half of cases. Data for SS and PAPVC are too few to synthesize. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
Assuntos
Ecocardiografia Doppler em Cores , Cardiopatias Congênitas/diagnóstico por imagem , Diagnóstico Pré-Natal , Veias Pulmonares/anormalidades , Síndrome de Cimitarra/diagnóstico por imagem , Feminino , Idade Gestacional , Humanos , Gravidez , Resultado da Gravidez , Estudos RetrospectivosRESUMO
Two cases of ultrasound diagnosis of Holt-Oram syndrome are described. Both were characterized by significant right atrial enlargement that was not due to concurrent tricuspid regurgitation or other cardiac anomalies. In both cases the associated skeletal anomaly was subtle and barely visible using ultrasound. Interestingly, despite the fact that Holt-Oram syndrome is also called atriodigital dysplasia, unexplained right atrial enlargement has not been described in this context in the fetus before. When such a finding is detected, we believe a thorough search for upper limb abnormalities should be carried out and genetic testing for Holt-Oram syndrome should be discussed with the parents.
Assuntos
Anormalidades Múltiplas/diagnóstico , Cardiomegalia/genética , Átrios do Coração/patologia , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Aborto Induzido , Feminino , Feto , Aconselhamento Genético , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Ultrassonografia , Deformidades Congênitas das Extremidades Superiores/diagnóstico por imagem , Deformidades Congênitas das Extremidades Superiores/embriologia , Deformidades Congênitas das Extremidades Superiores/genéticaRESUMO
OBJECTIVES: To analyze fetal two-dimensional (2D) echocardiographic characteristics of interrupted aortic arch (IAA) and its different types, to explore whether the use of 4D ultrasound with B-flow imaging and spatiotemporal image correlation (STIC) can improve prenatal diagnostic accuracy, and to describe associations and outcome. METHODS: The study comprised IAA fetuses examined exclusively by 2D conventional echocardiography during the period from 1994 to 2003, and those identified by conventional echocardiography and examined further by 4D ultrasound with B-flow imaging and STIC during the period January 2004 to July 2008, identified among fetuses examined at two referral centers for congenital heart defects (CHD). Postnatal follow-up was available in all cases. Karyotyping and fluorescent in-situ hybridization (FISH) analysis for the DiGeorge critical region (22q11.2) were performed in all cases. RESULTS: Twenty-two cases of isolated IAA (15 Type B and seven Type A, seven and three of which, respectively, underwent B-flow imaging and STIC) were detected among 2520 cases of fetal CHD. In seven of the 15 Type B cases, a right subclavian artery arose anomalously (ARSA). 2D echocardiography failed to distinguish the type of IAA in only two cases and the ARSA in five of the seven cases. B-flow imaging and STIC successfully identified IAA types in all 10 cases examined and clearly visualized the origin and course of the ARSA, including cervical ones. FISH detected 22q11.2 microdeletion in 10 of the 15 Type B cases and an unusual association with Type A in one of the seven cases. Fetal/neonatal outcome included: eight terminations of pregnancy, one intrauterine death and four postoperative deaths in the neonatal period, and nine neonates were alive after surgery at a mean follow-up time of 58 months (range, 4 months-13 years). CONCLUSION: Our results confirm the feasibility of prenatal characterization of IAA and its different types based on 2D echocardiographic examination, albeit with some limitations in the thorough assessment. 4D ultrasound with B-flow imaging and STIC can apparently facilitate visualization and detailed examination of the anatomical features of the IAA types, including visualization of the neck vessels, thus supplying additional information with respect to 2D sonography. As for the known association with microdeletion 22q11.2, our data indicate that Types A and B are distinct, there being a close association only with IAA Type B.
Assuntos
Aorta Torácica/anormalidades , Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Aorta Torácica/diagnóstico por imagem , Ecocardiografia/métodos , Ecocardiografia Quadridimensional/métodos , Feminino , Coração Fetal/anormalidades , Coração Fetal/fisiopatologia , Idade Gestacional , Cardiopatias Congênitas/fisiopatologia , Humanos , Recém-Nascido , Cariotipagem , Gravidez , Resultado da GravidezRESUMO
OBJECTIVE: Coronary arterial abnormalities can be one of the few negative prognostic indicators in transposition of the great arteries (TGA), and their occurrence is related to the type of spatial relationship of the great arteries. The main objective of this study was to assess whether the use of the reconstructed en-face view with color Doppler imaging of the four cardiac valves can demonstrate the different types of spatial relationship of the arterial trunks in fetuses with TGA, in order to derive the risk of coronary abnormalities. A secondary end-point was the evaluation of the type of coronary arterial branching pattern. METHODS: Twenty-three fetuses with a confirmed diagnosis of TGA underwent four-dimensional (4D) echocardiography at 19-33 gestational weeks. The en-face view of the four cardiac valves and color Doppler with high persistence were employed to assess the spatial relationships of the great arteries. In all cases, confirmation of the vessels' arrangement and coronary arterial distribution was obtained at neonatal echocardiography and/or surgery. RESULTS: The spatial relationships of the great vessels was identified correctly in 20/23 (87%) cases. The aorta was found to be located anterior to and to the right of the pulmonary trunk in 13/23 (56.5%) cases and just anterior to the pulmonary artery in 6/23 (26.1%) cases; in the remaining four (17.4%) cases, the two vessels were side by side. With respect to the association between the spatial relationship of the great arteries and the occurrence of an unusual pattern of coronary arterial branching, five of the TGA fetuses had abnormal coronary arterial distribution. CONCLUSIONS: Using 4D echocardiography with color Doppler, it is possible to define the spatial relationships of the great arteries in fetuses with TGA with a high degree of accuracy. This information can be used during counseling to predict the likelihood of abnormal coronary arterial distribution.
Assuntos
Ecocardiografia Doppler em Cores/métodos , Ecocardiografia Quadridimensional/métodos , Interpretação de Imagem Assistida por Computador , Transposição dos Grandes Vasos/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Vasos Coronários/diagnóstico por imagem , Vasos Coronários/embriologia , Feminino , Valvas Cardíacas/diagnóstico por imagem , Valvas Cardíacas/embriologia , Humanos , Recém-Nascido , Gravidez , Segundo Trimestre da Gravidez , Estudos Prospectivos , Medição de Risco/métodosRESUMO
BACKGROUND: Transposition of the great arteries (TGA) is considered to be associated only rarely with genetic syndromes and to have a low risk of precurrence among relatives of affected patients. Because most family studies have involved a relatively small number of patients and evaluated all types of TGA as a single group, we performed a large, prospective study investigating the precurrence of congenital heart disease in families of children with complete, nonsyndromic TGA. METHODS AND RESULTS: From January 1997 through December 2000, 370 patients with nonsyndromic, complete TGA were consecutively evaluated and enrolled in the study. The occurrence of cardiac and noncardiac anomalies among relatives of the probands was investigated. Relatives with congenital heart disease were found in 37 of 370 families (10%), including 5 of 37 families (13.5%) with more than one affected relative. TGA itself was the most common precurrent malformation: complete TGA occurred in 6 families and congenitally corrected TGA occurred in 5 families. Precurrence risks for congenital heart disease were calculated at 1.8% (8 of 436) for siblings, 0.5% (4 of 740) for parents, 0.5% (16 of 3261) for first cousins, 0.2% (4 of 2101) for uncles/aunts, and 0.06% (1 of 1480) for grandparents. CONCLUSIONS: The present study shows that TGA is not always sporadic in families. Precurrence of concordant cardiac defects within affected family members supports monogenic or oligogenic inheritance of TGA in certain kindreds. Moreover, the occurrence of complete TGA and congenitally corrected TGA among first-degree relatives in several different families strongly suggests an underlying pathogenetic link between these 2 malformations that has been previously unrecognized.
Assuntos
Transposição dos Grandes Vasos/genética , Adolescente , Criança , Pré-Escolar , Saúde da Família , Feminino , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem , Fenótipo , Transposição dos Grandes Vasos/patologiaRESUMO
Oral-facial-digital syndromes (OFDS) constitute a heterogeneous group of entities whose clinical manifestations are often overlapping. We report on a 23-week-old aborted fetus who showed a transitional phenotype between OFD II and OFD VI syndromes.
Assuntos
Síndromes Orofaciodigitais/diagnóstico , Face/anormalidades , Feminino , Feto/patologia , Pé/diagnóstico por imagem , Mãos/diagnóstico por imagem , Mãos/patologia , Humanos , Boca/patologia , Síndromes Orofaciodigitais/classificação , Síndromes Orofaciodigitais/genética , Fenótipo , Gravidez , RadiografiaRESUMO
From 1981 to 1992, 10 infants with aortopulmonary septal defect (APSD) underwent surgical repair. The mean age at operation was 5.6 +/- 5.5 months, and the mean weight 4.6 +/- 2 kg. Intracardiac associated anomalies were as follows: ventricular septal defects (7 cases), tetralogy of Fallot (2 cases), aortic valve stenosis (2 cases), atrial septal defect (3 cases), patent ductus arteriosus (3 cases), pulmonary valve stenosis (1 case). Cardiac catheterization was performed in 8 out of 10 patients. Eight patients had type I (proximal) defect, 1 had type II (distal) defect and 1 had type III (absent aortopulmonary septation) defect. A variety of surgical procedure was employed. APSD closure with hemoclip was feasible in 3 cases with small window. In 6 patients, during a period of cardiopulmonary by-pass, a side biting clamp was positioned on the ascending aorta close the defect; the border of the window was divided leaving a flap of pulmonary wall on the left side to close the aortic defect; the pulmonary artery was repaired by an autologous pericardial patch. In the patient with type III APSD, aortopulmonary septation was carried out through a transwindow approach. Associated anomalies were repaired in all infants except one. Hospital mortality was 10% (1 case). No late deaths occurred. At a mean follow-up of 47 +/- 35 months 8 patients are asymptomatic and 1 is awaiting for repair of associated anomalies. Conclusions. APSD is a rare but nonetheless well identifiable anomaly. Surgery is indicated as soon as the diagnosis is established, regardless of the patient's age.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Defeito do Septo Aortopulmonar/cirurgia , Fatores Etários , Defeito do Septo Aortopulmonar/complicações , Defeito do Septo Aortopulmonar/diagnóstico , Defeito do Septo Aortopulmonar/epidemiologia , Cateterismo Cardíaco , Ponte Cardiopulmonar/métodos , Feminino , Seguimentos , Mortalidade Hospitalar , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Índice de Gravidade de DoençaRESUMO
From 1979 to 1990, 56 children ranging between 4 days and 16 years of age (mean 73 +/- 51 months) underwent Goretex patch aortoplasty for coarctation of the aorta. The mean weight at operation was 20.2 +/- 3.5 kg (range 3.3-42 kg). Forty-two patients had primary repair, and the remaining 14 had reoperation for recoarctation. The aorta was opened through a standard left thoracotomy, the posterior fibrous ridge was partially excised when it was prominent, and a large patch from a Goretex tube was sutured into place. The postoperative complications were as follows: paradoxical hypertension in 14 cases, massive haemorrhage due to aortic wall rupture in a diabetic child, and intestinal bleeding in 1 case. There were no early deaths and only 1 case of late death, which was not related to coarctation repair (mortality rate 1.8%). The average follow-up was 48 +/- 26 months. Continuous wave-Doppler examination at rest showed no arm-leg systolic gradient in 52 cases and a gradient of about 15 mmHg in 4 cases. Graded exercise testing showed only 1 case with an arm-leg gradient higher than 35 mmHg. Nuclear magnetic resonance (NMR) imaging, performed on 26 patients at a mean of 7 years from operation, showed excellent morphology and size of the aortoplasty. No cases of recoarctation or late aneurysm formation were found. We conclude that Goretex patch aortoplasty can be performed effectively and safely in children. Nuclear magnetic resonance provides high resolution imaging of the coarctation repair site.
Assuntos
Coartação Aórtica/cirurgia , Prótese Vascular , Politetrafluoretileno , Adolescente , Coartação Aórtica/diagnóstico por imagem , Coartação Aórtica/fisiopatologia , Criança , Pré-Escolar , Ecocardiografia Doppler , Estudos de Avaliação como Assunto , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Espectroscopia de Ressonância Magnética , Masculino , Complicações Pós-Operatórias , Radiografia , ReoperaçãoAssuntos
Anomalias dos Vasos Coronários/terapia , Síndrome de Linfonodos Mucocutâneos/terapia , gama-Globulinas/administração & dosagem , Pré-Escolar , Anomalias dos Vasos Coronários/diagnóstico , Anomalias dos Vasos Coronários/etiologia , Esquema de Medicação , Ecocardiografia , Feminino , Humanos , Lactente , Injeções Intravenosas , Masculino , Síndrome de Linfonodos Mucocutâneos/complicaçõesAssuntos
Anastomose Cirúrgica , Prótese Vascular , Cateterismo , Oclusão de Enxerto Vascular/terapia , Politetrafluoretileno , Artéria Pulmonar/cirurgia , Artéria Subclávia/cirurgia , Anastomose Cirúrgica/efeitos adversos , Pressão Sanguínea/fisiologia , Prótese Vascular/efeitos adversos , Cateterismo/métodos , Pré-Escolar , Terapia Combinada , Oclusão de Enxerto Vascular/tratamento farmacológico , Oclusão de Enxerto Vascular/fisiopatologia , Heparina/uso terapêutico , Humanos , Lactente , Recém-Nascido , Oxigênio/sangue , Artéria Pulmonar/fisiopatologia , Ativador de Plasminogênio Tipo Uroquinase/uso terapêuticoRESUMO
OBJECTIVE: To review the outcome of patients with pulmonary atresia with intact ventricular septum after interventional perforation of the pulmonary valve, to assess the capability of this procedure to avoid neonatal or late intervention and to obtain a long-term biventricular repair. DESIGN: Retrospective interventional study and clinical follow-up study. SETTING: Tertiary referral centre. PATIENT POPULATION: Between November 1994 and December 2007, 40 neonates underwent radiofrequency perforation. Median age at pulmonary valvotomy was 28 hours (range 1-147 hours) and median weight was 2925 g (range 1900-4400 g). MAIN OUTCOME MEASURES: Procedural success and complication rates; early-term and long-term follow-up results. RESULTS: The procedure was successful in 39 patients but 16 of them needed neonatal surgery. The overall mortality was 7.5%. At a median follow-up of 82 months, four patients underwent a bidirectional Glenn procedure, whereas all the other patients achieved a biventricular circulation without any further intervention in 19 of them. Patients who died or needed additional intervention with or without biventricular circulation failure had a higher incidence of bipartite right ventricular (65% vs 15.8% of those not needing additional intervention; p = 0.004) and a lower median tricuspid Z value (-2 (range -3.5 to 1) vs -0.5 (range -2 to 1); p = 0.004)). CONCLUSIONS: The results confirm that percutaneous interventional perforation is an effective first-stage procedure in patients with pulmonary atresia with intact ventricular septum. The right heart appeared to be adequate to maintain a long-term biventricular circulation in the large majority of cases.
Assuntos
Ablação por Cateter/métodos , Atresia Pulmonar/cirurgia , Valva Pulmonar/cirurgia , Septo Interventricular , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Tempo de Internação , Masculino , Atresia Pulmonar/mortalidade , Reoperação , Estudos Retrospectivos , Resultado do TratamentoRESUMO
OBJECTIVE: To describe the anatomy, associated anomalies and outcome of 30 cases of congenitally corrected transposition of the great arteries (ccTGA) detected prenatally. METHODS: This was a retrospective observational study of the 30 cases of ccTGA confirmed at autopsy or postnatal echocardiography seen at one of three referral centers from 1994 to 2003. The following data were considered: gestational age at diagnosis, cardiac anatomy, associated cardiac and extracardiac anomalies and fetoneonatal outcome. All fetuses underwent fetal echocardiography and a detailed anomaly scan, with follow-up scans at 3-4-week intervals until delivery. The diagnosis was confirmed at autopsy or after delivery. Follow-up data were retrieved from the clinical files of the patients. RESULTS: The mean gestational age at diagnosis was 25.5 weeks. Intracardiac defects associated with the ccTGA included a ventricular septal defect in 21 cases, pulmonary outflow obstruction in 12 cases, an abnormal tricuspid valve in 10 cases, ventricular hypoplasia in five cases and dextro/mesocardia in five cases. The karyotype was normal in all 24 newborns, and unknown in the cases which resulted in termination of pregnancy (n = 5) or intrauterine death (n = 1). There were associated extracardiac anomalies in four cases only. Three of the four cases of atrioventricular block (AV block) developed in the third trimester, while the fourth appeared after birth. There were nine deaths (five terminations, two perinatal deaths and two infant deaths). The remaining 21 (70%) newborns were alive at a median follow-up time of 32 months, 11 of them after various surgical procedures. CONCLUSIONS: Our data suggest that in fetuses with ccTGA the risk of chromosomal and extracardiac anomalies is low, in accordance with postnatal data. The spectrum of associated cardiac lesions is consistent with that reported in the pediatric literature. These data may be of use during prenatal counseling since no figures regarding survival and/or outcome of ccTGA in the fetus have been reported so far.
Assuntos
Doenças Fetais/cirurgia , Cuidado Pré-Natal/métodos , Transposição dos Grandes Vasos/cirurgia , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/patologia , Idade Gestacional , Humanos , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Análise de Sobrevida , Transposição dos Grandes Vasos/diagnóstico por imagem , Transposição dos Grandes Vasos/patologia , UltrassonografiaRESUMO
OBJECTIVE: This was a multicenter series of 10 cases of constriction of the fetal ductus arteriosus occurring after maternal ingestion of one or two oral doses of nimesulide, which led to emergency delivery in four cases. METHODS: The computerized databases of three referral centers were searched for all cases of ductal constriction detected during the last 8 years in association with maternal ingestion of nimesulide. Ten cases were retrieved and represent the study population. The following variables were analyzed: gestational age at diagnosis, reason for nimesulide ingestion, total nimesulide dose, time interval between drug intake and ultrasound examination, indication for echocardiography, presence of right ventricular hypertrophy, presence of tricuspid valve regurgitation, ductal systolic and diastolic peak velocities, ductal pulsatility index, signs of fetal heart failure, pregnancy and feto-neonatal outcome, and ductal status at neonatal echocardiography. RESULTS: Nimesulide ingestion was the result of self-medication in all cases. The mean gestational age at diagnosis was 36.3 weeks and the mean time interval between nimesulide intake and echocardiographic examination was 2.9 days. The five cases with ductal peak velocities > 2.5 m/s showed right ventricular dysfunction with significant tricuspid regurgitation. At echocardiography performed immediately after birth, the ductus appeared closed in all cases and two neonates showed persistent pulmonary hypertension requiring intermittent positive pressure ventilation and nitric oxide therapy for 1 week. CONCLUSIONS: Although the true incidence of the adverse effect of nimesulide ingestion during pregnancy cannot be deduced, we believe that patients and their clinicians should be alerted to the possibility that clinically significant ductal constriction may follow maternal self-medication with just one or two oral doses of nimesulide, at least if the drug is taken near term.
Assuntos
Inibidores de Ciclo-Oxigenase/efeitos adversos , Canal Arterial/efeitos dos fármacos , Complicações na Gravidez/induzido quimicamente , Sulfonamidas/efeitos adversos , Tocolíticos/efeitos adversos , Administração Oral , Constrição Patológica/induzido quimicamente , Constrição Patológica/diagnóstico por imagem , Inibidores de Ciclo-Oxigenase/administração & dosagem , Parto Obstétrico , Canal Arterial/diagnóstico por imagem , Ecocardiografia/métodos , Emergências , Feminino , Idade Gestacional , Humanos , Gravidez , Complicações na Gravidez/diagnóstico por imagem , Terceiro Trimestre da Gravidez , Automedicação/efeitos adversos , Sulfonamidas/administração & dosagem , Tocolíticos/administração & dosagem , Ultrassonografia Pré-Natal/métodos , Disfunção Ventricular Direita/diagnóstico por imagem , Disfunção Ventricular Direita/fisiopatologiaRESUMO
Interrupted aortic arch is a rare, severe congenital heart defect subdivided into three types, A, B and C, according to the site of interruption. Type C is by far the least common form of interrupted aortic arch (less than 5% of cases), type A is commonly an isolated defect whereas type B is frequently associated with 22q11 deletion. Differentiation of interrupted aortic arch type A from type B by prenatal echocardiography is possible but difficult; it needs to be done on the basis of observation of reliable morphological indicators which point to the correct diagnosis. Here we report the first case of prenatal diagnosis of interrupted aortic arch type A associated with 22q11 deletion. The significance of this association is not yet clear, since 22q11 genes mainly affect embryonic cardiovascular morphogenesis of those regions whose development is critically dependent on neural crest cell migration and function, affected in type B defect but not in type A.
Assuntos
Aorta Torácica/anormalidades , Deleção Cromossômica , Cromossomos Humanos Par 22 , Cardiopatias Congênitas/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Ecocardiografia , Feminino , Idade Gestacional , Cardiopatias Congênitas/cirurgia , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Gravidez , Resultado do TratamentoRESUMO
Balloon angioplasty of recurrent coarctation of the aorta is considered a low-risk procedure with high success rate. In the literature, the major complications are death, rupture of the aorta, recoarctation, aneurysm formation, cerebrovascular accident, and femoral artery thrombosis. Spinal cord ischemia as an unusual complication of balloon angioplasty is reported.
Assuntos
Angioplastia Coronária com Balão/efeitos adversos , Coartação Aórtica/complicações , Coartação Aórtica/cirurgia , Paraplegia/etiologia , Dupla Via de Saída do Ventrículo Direito/complicações , Dupla Via de Saída do Ventrículo Direito/terapia , Feminino , Humanos , Bem-Estar do Lactente , Recém-Nascido , Complicações Pós-Operatórias/etiologia , RecidivaRESUMO
A case is described in which a giant aneurysm developed following successful PDA coil occlusion in an infant with Marfan syndrome. This rare and severe complication brings into question the need for careful evaluation of these children before and after transcatheter occlusion.
Assuntos
Aneurisma Coronário/etiologia , Permeabilidade do Canal Arterial/terapia , Embolização Terapêutica/efeitos adversos , Complicações Pós-Operatórias , Próteses e Implantes , Humanos , Lactente , Síndrome de Marfan/complicaçõesRESUMO
OBJECTIVES: Differentiation of interruption of the aortic arch (IAA) type A from type B by prenatal echocardiography is possible but difficult. We report nine consecutive cases of the prenatal detection of IAA and evaluate the feasibility of making a correct prenatal diagnosis with fetal echocardiography. The incidence of 22q11 microdeletion in our series, detected using fluorescent in situ hybridization (FISH) analysis, was determined. METHODS: Echocardiography and FISH for the DiGeorge critical region (22q11) were performed in all cases. The findings were confirmed by autopsy (three cases) or at postnatal surgery (six cases). RESULTS: On fetal echocardiography we identified six type B cases and three type A. FISH detected microdeletions in 22q11 in five of nine fetuses (four type B cases and an unusual association with type A in one case). CONCLUSIONS: Our report confirms the feasibility of making a correct prenatal diagnosis of IAA and its different types, based on echocardiographic examination. Furthermore our data are consistent with previous reports indicating that type A and type B are distinct entities. In more than 50% of fetuses with IAA type B, 22q11 microdeletion and DiGeorge or velo-cardio-facial syndromes may be expected. IAA type A is not commonly associated with 22q11 hemizygosity.
Assuntos
Aorta Torácica/anormalidades , Deleção Cromossômica , Cromossomos Humanos Par 22 , Doenças Fetais/diagnóstico por imagem , Ultrassonografia Pré-Natal , Estudos de Viabilidade , Feminino , Comunicação Interventricular/diagnóstico por imagem , Humanos , GravidezRESUMO
A fetal case is described that showed a rapid progression from the features of initial left ventricular fibroelastosis at 20 weeks of gestation to a more marked dilation at 22 weeks and finally to a hypoplastic left ventricle with aortic stenosis at 24 weeks of gestation. This case confirms the evolutive character of left ventricular disease during fetal life.
Assuntos
Fibroelastose Endocárdica/fisiopatologia , Doenças Fetais/fisiopatologia , Disfunção Ventricular Esquerda/fisiopatologia , Adulto , Progressão da Doença , Ecocardiografia , Feminino , Humanos , GravidezRESUMO
Ventricular septal defect is a common cardiac anomaly in Down syndrome. To detect the prevalence of anatomic types and associated cardiac malformations we analyzed the echocardiographic and angiocardiographic findings of 73 children with ventricular septal defect and Down syndrome. We compared these results with those obtained in 303 patients with ventricular septal defect without Down syndrome. The prevalence of inlet ventricular septal defect was significantly higher in patients with Down syndrome, while muscular and subpulmonary ventricular septal defects were present only in patients without Down syndrome. The incidence of a cleft of the mitral valve was significantly higher in Down syndrome, while left-ventricular inflow and outflow obstructions were present only in patients without Down syndrome. Different patterns of ventricular septal defect and associated anomalies exist in patients with and without Down syndrome.