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1.
Zhonghua Fu Chan Ke Za Zhi ; 54(10): 660-665, 2019 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-31648441

RESUMO

Objective: To analyze the pregnancy outcomes of fetal tetralogy of Fallot and to explore its prenatal diagnosis and treatment procedures. Methods: The clinical data of 63 cases of fetal tetralogy of Fallot (62 cases were singleton and 1 case was one of twin) were collected retrospectively from November, 2013 to November, 2017 in Beijing Obstetrics and Gynecology Hospital. Results: (1) Totally, 63 cases out of 46 352 pregnancies were diagnosed fetal tetralogy of Fallot by fetal ultrasonic cardiogram with about 0.136%(63/46 352) occurrence rate, and the mean gestational age was (23±3) weeks. And 50 cases (79%, 50/63) terminated pregnancy by induced labour. (2) Totally, 57 cases (90%,57/63) accepted genetic diagnosis.Eight cases (13%, 8/63) existed chromosome abnormality including 21-trimosy in 6 cases, 18-trisomy in 1 case and 22q11.2 microdeletion syndrome in 1 case; and these 8 cases were determined before 28 gestational weeks. (3) And 13 cases (21%, 13/63) of no fetal genetic abnormality selected to continue pregnancy. Twelve cases underwent full term delivery (5 cases were cesarean section delivery and 7 cases were vaginal delivery). Twelve newborns underwent surgical radical operation on heart malformation and got recovery. One case underwent preterm cesarean section at 35 gestational weeks for one of twin, and the newborn with tetralogy of Fallot was dead. The other the newborns survived and were followed up for tetralogy of Fallot surgery from 1 month to 3 years old after birth and recovered. Conclusions: Fetal tetralogy of Fallot mainly is diagnosed by ultrasonic cardiogram in the second trimester. The gestational age of diagnosis may be as early as 15 gestational weeks. Fetal tetralogy of Fallot with no genetic abnormality could underwent radical heart malformation operation after birth. It is necessary to undergo genetic testing on fetal tetralogy of Fallot and prenatal multidisciplinary counseling as well.


Assuntos
Resultado da Gravidez , Diagnóstico Pré-Natal/métodos , Tetralogia de Fallot/diagnóstico por imagem , Ultrassonografia Pré-Natal , Aorta/diagnóstico por imagem , Aorta/patologia , Cesárea , Feminino , Feto , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Gravidez , Artéria Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Tetralogia de Fallot/diagnóstico
2.
Artigo em Chinês | MEDLINE | ID: mdl-31446699

RESUMO

Summary Microtia is a kind of malformation affecting the development of the external ear and middle ear. In China, researches have pointed out that the incidence of microtia was 3.06 per 10 000 people. About 40% of patients with microtia were identified with other systemic malformation, and the commom complications included congenital heart disease, scoliosis, anophthalmia, cleft palate, facial asymmetry, facial asymmetry, etc. Of which, the prevalence of microtia with congenital heart disease was 18.5%, and it was 7% of patients with scoliosis. It is very rare for patients of microtia combined with multi-malformations. In this study, we reported a case of familial microtia combined with tetralogy of Fallot and scoliosis, and undertook a systematic review of the literature.


Assuntos
Microtia Congênita/diagnóstico , Escoliose/diagnóstico , Tetralogia de Fallot/diagnóstico , China , Orelha Externa , Humanos
3.
Cardiol Young ; 29(6): 845-846, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31159910

RESUMO

Correction of tetralogy of Fallot during infancy usually eliminates the risks associated with general anaesthesia. In rare cases of uncorrected defects persisting into adulthood, anaesthetic management during non-cardiac surgery may therefore be challenging. We describe the use of continuous spinal anaesthesia to successfully circumvent the operative risk of major abdominal surgery in an adult patient with uncorrected tetralogy of Fallot.


Assuntos
Raquianestesia/métodos , Gastrectomia/métodos , Neoplasias Gástricas/cirurgia , Tetralogia de Fallot/complicações , Ecocardiografia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Gástricas/complicações , Tetralogia de Fallot/diagnóstico
5.
Congenit Heart Dis ; 14(3): 491-497, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31083772

RESUMO

BACKGROUND: There are limited data about outcomes of coronary artery disease (CAD) in adults with repaired tetralogy of Fallot (TOF). The purpose of this study was to describe the prevalence and treatment of CAD in adults with TOF, and the impact of CAD on long-term survival. METHODS: Retrospective review of MACHD database for adults with repaired TOF who underwent aortic root/selective coronary angiogram, 1990-2017. Patients were categorized into three groups: (1) No CAD defined as normal coronary angiogram; (2) Mild CAD defined as ≤50% stenosis in all vessels; and, (3) Significant CAD defined as >50% stenosis in any vessel. RESULTS: We identified 105 (23%) of 465 TOF patients that had angiograms; mean age 47 ± 12 years. The prevalence of mild CAD and significant CAD was 19% (20 patients) and 15% (16 patients), respectively. Of these 16 patient with significant CAD, 9 (56%), 3 (19%), and 4 (24%) patients received guideline directed medical therapy, percutaneous coronary intervention, and coronary artery bypass grafting, respectively. Significant CAD was an independent risk factor for mortality (HR: 2.03, 95% CI 1.64-4.22, P = .022) after adjustment for differences in age, and prevalence of atrial fibrillation and renal dysfunction. CONCLUSIONS: Based on a review of a selected cohort of 105 TOF patients, the prevalence of mild CAD and significant CAD was 19% and 15%, respectively. Significant CAD was an independent risk factor for mortality. There is need for more research to determine optimal noninvasive diagnostic strategies and optimal patient selections and methods for revascularization.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Doença da Artéria Coronariana/terapia , Sobreviventes , Tetralogia de Fallot/cirurgia , Adulto , Idoso , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/mortalidade , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/mortalidade , Bases de Dados Factuais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/mortalidade , Fatores de Tempo , Resultado do Tratamento
6.
World J Pediatr Congenit Heart Surg ; 10(3): 313-320, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31084304

RESUMO

BACKGROUND: Pulmonary vascular supply in tetralogy of Fallot (TOF) with major aortopulmonary collaterals (MAPCAs) is highly variable. Our approach to surgical management of this condition emphasizes early repair including unifocalization and reconstruction of the pulmonary circulation, incorporating all lung segments and addressing stenoses both proximal to and within the lung, in addition to ventricular septal defect closure. At our institution, we have over 15 years of experience using lung perfusion scintigraphy (LPS) to assess the distribution of pulmonary blood flow after complete unifocalization and repair. METHODS: We reviewed clinical and quantitative LPS data in 310 patients who underwent complete unifocalization and repair of TOF/MAPCAs from 2003 to 2018 at our institution. Postrepair relative lung perfusion distributions were determined from LPS initially obtained at our institution within 60 days after repair and thereafter. RESULTS: Total lung perfusion to the right and left lungs was 58.0% ± 14.2% and 42.0% ± 14.2%, respectively. Perfusion was balanced in 75% of patients and unbalanced in 25%, including 11% in whom it was extremely unbalanced. On multivariable analysis, older age at repair, surgery other than a single-stage complete unifocalization, and native anatomy consisting of unilateral pulmonary blood supply through a ductus arteriosus were associated with unbalanced perfusion. CONCLUSION: We present our experience using LPS as an outcome measure after surgical repair of TOF/MAPCAs. Balanced lung perfusion was present in the majority of patients who had complete repair of TOF/MAPCAs performed at our center.


Assuntos
Aorta Torácica/cirurgia , Procedimentos Cirúrgicos Cardíacos/métodos , Circulação Colateral/fisiologia , Artéria Pulmonar/cirurgia , Circulação Pulmonar/fisiologia , Tetralogia de Fallot/cirurgia , Cintilografia de Ventilação/Perfusão/métodos , Idoso , Aorta Torácica/diagnóstico por imagem , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Artéria Pulmonar/diagnóstico por imagem , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/fisiopatologia
7.
Cardiovasc Ultrasound ; 17(1): 8, 2019 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-31060568

RESUMO

BACKGROUND: The etiology of TOF is complex and the genesis of TOF has been associated with environmental factors and genetic disorders, including chromosomal anomalies, aneuploidies, 22q11.2 deletion and single-gene disease. Previous literatures have shown that a chromosome alteration in about 30% patients with TOF and recently published articles reported that 22q11.2 deletion syndrome accounts for 16% cases with TOF diagnosed postnatally. CMA now is considered as gold standard for detecting genetic anomalies in fetuses with congenital malformations. CMA could detect a 6.6-25% incremental yield of CNVs in CHDs. The aim of this study was to assess the genetic anomalies in fetal tetralogy of Fallot (TOF) by using high-definition CMA. METHODS: This retrospective study reviewed all the fetuses diagnosed with TOF between 2013 and 2018. Prenatal ultrasongraphic findings, including cardiac angle, and the findings of CMA using Affymetrix CytoScan HD array were collected. RESULTS: Ninety-six fetuses with TOF and known genetic results were enrolled. Right aortic arch was the most common associated anomalies (22.9%). One fetus with trisomy 18, one with 46, XX, t (7;10)(q36;q22), one with 47, XYY and five with trisomy 21 were identified. Clinically significant CNVs occurred in 6.8% and uncertain significant CNVs in 3.4% fetal TOF with normal karyotype. A total of four cases with 22q11.2 microdeletion and two fetuses with Yq11.223q11.23 microduplication have been identified. Genetic anomalies, including chromosomal aberrations and pathogenic CNVs, were significantly higher in the TOF with extracardiac anomaly group than in the TOF without extracardiac anomaly group (P = 0.005). Abnormal cardiac angle was noticed in 24.0% fetal TOF. Genetic anomalies were more common in the TOF with abnormal cardiac angle than with normal cardiac angle (P = 0.001). On the other hand, abnormal cardiac angle was noticed in 64.3% fetal TOF with genetic anomalies while abnormal cardiac angle occurred in 17.1% fetal TOF with normal genetic results (P = 0.001). CONCLUSIONS: Genetic testing should be offered, specially using microarray analysis, for the fetal TOF with abnormal cardiac angle or extracardiac defects.


Assuntos
Aberrações Cromossômicas , DNA/análise , Coração Fetal/diagnóstico por imagem , Análise em Microsséries/métodos , Tetralogia de Fallot/genética , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Humanos , Gravidez , Estudos Retrospectivos , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/embriologia , Adulto Jovem
8.
Congenit Heart Dis ; 14(5): 700-705, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31070871

RESUMO

BACKGROUND: Quantitative assessment of right ventricular (RV) systolic function by echocardiography is challenging in patients with congenital heart disease because of the complex geometry of the RV and the iatrogenic structural abnormalities resulting from prior cardiac surgeries. The purpose of this study was to determine the correlation between echocardiographic indices of RV systolic function and cardiac magnetic resonance imaging (CMRI) derived RV ejection fraction (RVEF) in adults with repaired tetralogy of Fallot (TOF). METHODS: Quantitative assessment of RV function was performed with RV tissue Doppler systolic velocity (RV s'), tricuspid annular plane systolic excursion (TAPSE), and fractional area change (FAC). These echocardiographic indices were compared to RVEF from CMRI performed on the same day as echocardiogram. RESULTS: Of 209 patients, the mean RV FAC was 39 ± 9%, TAPSE was 18 ± 4 mm, RV s' was 10 ± 2 cm/s, and RVEF was 40 ± 10%. There was a good correlation between TAPSE and RVEF (r = 0.79, P < .001), good correlation between RV s' and RVEF (r = 0.71, P < .001), and modest correlation between FAC and RVEF (r = 0.66, P < .001). TAPSE < 17 mm effectively discriminated between patients with RV systolic dysfunction defined as RVEF < 47% (sensitivity 81%, specificity 79%, area under the curve [AUC] 0.805). FAC < 40% was associated with RVEF < 47% (sensitivity 72%, specificity 63%, AUC 0.719). RV s' < 11 cm was associated with RVEF < 47% (sensitivity 83%, specificity 68%, AUC 0.798). CONCLUSION: Despite the structural and functional abnormalities of the RV in patients with repaired TOF, quantitative assessment of RV systolic function by echocardiography is feasible and had good correlation with CMRI-derived RVEF.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Ecocardiografia Doppler/métodos , Ventrículos do Coração/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética/métodos , Volume Sistólico/fisiologia , Tetralogia de Fallot/diagnóstico , Função Ventricular Direita/fisiologia , Adulto , Feminino , Seguimentos , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Tamanho do Órgão , Período Pós-Operatório , Curva ROC , Estudos Retrospectivos , Sístole , Tetralogia de Fallot/fisiopatologia , Tetralogia de Fallot/cirurgia
9.
Cardiol Young ; 29(5): 727-729, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31133077

RESUMO

We report the case of a 14-year-old female who had tetralogy of Fallot along with anomalous origin of the left pulmonary artery from the ascending aorta with co-dominant double aortic arch forming a complete vascular ring compressing the oesophagus along with a left main coronary artery to right ventricular outflow tract fistula. She underwent surgical correction without conduit placement.


Assuntos
Aorta/anormalidades , Fístula Artério-Arterial/diagnóstico , Anomalias dos Vasos Coronários/diagnóstico , Artéria Pulmonar/anormalidades , Tetralogia de Fallot/diagnóstico , Adolescente , Fístula Artério-Arterial/congênito , Fístula Artério-Arterial/cirurgia , Procedimentos Cirúrgicos Cardíacos , Angiografia por Tomografia Computadorizada , Anomalias dos Vasos Coronários/cirurgia , Feminino , Humanos , Imagem Tridimensional , Tetralogia de Fallot/cirurgia , Procedimentos Cirúrgicos Vasculares
10.
BMJ Case Rep ; 12(4)2019 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-31023735

RESUMO

Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease beyond the age of 3 months. Complete heart block (CHB) is rare but a serious sequalae post-repair of TOF. We present a case of an 18-month-old child who developed late CHB after around 1 year of the corrective surgery of the congenital anomaly. On the regular follow-up visit, the patient assessment was unremarkable. However, there was bradycardia, 55 beats/min. The ECG showed complete atrioventricular dissociation. Echocardiogram was done and demonstrated severe tricuspid regurgitation (TR). The patient required a permanent pacemaker and he is currently well. We are presenting this case as a late unexpected CHB, with a possibility of progressive right-side dilatation as a contributing factor to CHB due to severe TR.


Assuntos
Bloqueio Atrioventricular/etiologia , Bloqueio Atrioventricular/cirurgia , Tetralogia de Fallot/complicações , Assistência ao Convalescente , Bloqueio Atrioventricular/fisiopatologia , Bloqueio Atrioventricular/terapia , Ecocardiografia/métodos , Eletrocardiografia , Humanos , Lactente , Masculino , Marca-Passo Artificial , Complicações Pós-Operatórias/fisiopatologia , Complicações Pós-Operatórias/cirurgia , Fatores Desencadeantes , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/cirurgia , Resultado do Tratamento , Insuficiência da Valva Tricúspide/complicações , Insuficiência da Valva Tricúspide/diagnóstico por imagem
11.
Congenit Heart Dis ; 14(5): 691-699, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30989806

RESUMO

BACKGROUND: Little is known about the early time course of biventricular function and mechanics after tetralogy of Fallot (TOF) repair. We sought to evaluate and describe the evolution of the right ventricle (RV) after TOF repair in young infants and children using conventional echocardiographic parameters and global longitudinal strain (GLS). METHODS: A retrospective review was performed of all patients with TOF and pulmonary stenosis who underwent repair from January 2002 to September 2015 and had at least 3 serial postsurgical echocardiograms spanning from infancy to early childhood (<8 years). Student's t test was performed to compare patients who underwent valve sparing (VS) versus transannular patch (TAP) repair. ANOVA was used to track measures of ventricular systolic function over time. RESULTS: We analyzed 151 echocardiograms performed on 42 patients. Pulmonary regurgitation (PR, moderate or severe) and the RV to left ventricular (LV) basal dimension ratio were higher in TAP patients (P < .04 at all-time points). Along with a significant increase in RV basal diameter Z-score in the TAP group (P < .001), there was an improvement in RV and LV GLS over time in both groups (P < .001). The LV GLS at last follow-up was lower in patients who underwent reoperation than those who did not (P = .050). LV GLS at the last follow-up echocardiogram was lower in patients with significant PR than those without (P < .001). CONCLUSIONS: Ventricular function appeared improve over time from the initial postoperative period in TOF patients. TAP repair was associated with a progressively higher RV/LV ratio in young children. GLS and RV/LV basal diameter ratio may be useful when following young children after TOF repair. Further research is necessary to understand the trajectory of ventricular functional and volumetric changes in young children in order to provide the most effective lifetime management of patients with TOF.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Ventrículos do Coração/fisiopatologia , Estenose da Valva Pulmonar/cirurgia , Valva Pulmonar/cirurgia , Tetralogia de Fallot/cirurgia , Função Ventricular Direita/fisiologia , Criança , Pré-Escolar , Ecocardiografia , Feminino , Seguimentos , Ventrículos do Coração/diagnóstico por imagem , Humanos , Lactente , Masculino , Período Pós-Operatório , Valva Pulmonar/diagnóstico por imagem , Estenose da Valva Pulmonar/diagnóstico , Estenose da Valva Pulmonar/fisiopatologia , Estudos Retrospectivos , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/fisiopatologia
12.
Int J Cardiol ; 283: 107-111, 2019 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-30819586

RESUMO

BACKGROUND: While left atrial (LA) size has been shown as a strong predictor of cardiovascular diseases in various studies, the role of right atrial (RA) enlargement, especially in the growing population of patients with congenital heart diseases (CHD) is largely unknown. We sought to evaluate (1) RA and LA volumes in patients with repaired Tetralogy of Fallot (TOF) and assess correlations to (2) functional parameters and (3) clinical adverse events. METHODS: 169 patients with repaired TOF were enrolled following a targeted protocol for Cardiovascular magnetic resonance imaging (CMR), Cardiopulmonary exercise tests (CPET), Echocardiography and Measurement of NT-proBNP. Clinical history was assessed at enrollment and during a median Follow-up of 23 months (IQR 9-40). The primary clinical endpoint was a composite of all cause mortality, aborted sudden cardiac death and sustained VT. Prespecified secondary surrogate endpoint included worsening heart failure (NYHA III-IV), non-sustained VT and sustained supraventricular tachycardia. RESULTS: RA Systolic indexed volume (RASVi) correlated with LA Systolic indexed volume (LASVi) (r = 0.59, p < 0.001) and both correlated with the patient age (r = 0.52, p < 0.001; r = 0.59, p < 0.001 respectively). Patients in the upper tertil of RASVi (>58 ml/m2) had higher NT-proBNP levels, longer QRS duration, larger ventricle diameters, higher RV mass and lower peak oxygen uptake. RASVi was associated with the primary composite adverse event at univariate Cox-regression analysis (HR: 1.044, CI: 1.008-1.08, p = 0.01). Bayesian Multivariate model averaging revealed RASVi as predictor of secondary surrogate adverse outcome (HR: 1.06, CI: 1.053-1.068, Pb = 0,889). CONCLUSION: Among patients with repaired TOF, RA dilatation is an independent predictor for adverse clinical events. As such, routine assessment of RA volumes could be useful to further improve decision-making and management of these patients in the future.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Átrios do Coração/diagnóstico por imagem , Tetralogia de Fallot/cirurgia , Adolescente , Adulto , Idoso , Volume Cardíaco , Causas de Morte/tendências , Criança , Progressão da Doença , Ecocardiografia , Teste de Esforço , Feminino , Seguimentos , Átrios do Coração/fisiopatologia , Humanos , Itália/epidemiologia , Imagem Cinética por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/mortalidade , Adulto Jovem
13.
Congenit Heart Dis ; 14(4): 628-637, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30843655

RESUMO

AIMS: Reliable evaluation of the severity and consequences of pulmonary regurgitation (PR) in patients with repaired tetralogy of Fallot (TOF) is crucial to timely identify the need for pulmonary valve intervention. We aimed to identify the accuracy of echocardiographic parameters to differentiate between moderate and severe PR, using phase contrast cardiac magnetic resonance imaging (CMR) as gold standard. METHODS AND RESULTS: In this cross-sectional study, 45 TOF patients with both echocardiographic and CMR measurements of PR were enrolled. All quantitative and semiquantitative echocardiographic measurements such as pressure half time (PHT), Color flow jet width (CFJW), ratio CFJW/right ventricle outflow tract (RVOT) diameter, PR index and the presence of early termination of the PR jet, end-diastolic antegrade flow and diastolic backflow in main pulmonary artery (MPA), and PA branches correlated significantly with PR fraction on CMR. Qualitative assessment with color flow on echocardiography overestimated PR Multivariate linear regression analysis identified the ratio of CFJW/RVOT diameter and PHT as independent predictors of PR fraction. Accuracy of echo parameters was tested to differentiate between mild-to-moderate and severe PR Combining different echocardiographic parameters increased sensitivity and specificity. The addition of diastolic flow reversal in the PA branches to PHT below 167 milliseconds increased the NPV from 87% to 89% and PPV from 62% to 76%. CONCLUSIONS: Comparison with CMR confirms that echocardiographic parameters are reliable in predicting PR severity. Combined measurement of diastolic flow reversal in the pulmonary artery branches and PHT is reliable in the detection of severe PR in the follow-up of TOF patients.


Assuntos
Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Ecocardiografia Doppler em Cores/métodos , Imagem Cinética por Ressonância Magnética/métodos , Complicações Pós-Operatórias , Insuficiência da Valva Pulmonar/diagnóstico , Valva Pulmonar/diagnóstico por imagem , Tetralogia de Fallot/cirurgia , Função Ventricular Direita/fisiologia , Adolescente , Adulto , Estudos Transversais , Feminino , Seguimentos , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Insuficiência da Valva Pulmonar/etiologia , Insuficiência da Valva Pulmonar/fisiopatologia , Estudos Retrospectivos , Tetralogia de Fallot/diagnóstico , Fatores de Tempo , Adulto Jovem
14.
Cardiol Young ; 29(3): 422-424, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30739622

RESUMO

An isolated left common carotid artery is very rare, and only 13 cases have been reported thus far. All those cases were accompanied by a right aortic arch and aberrant left subclavian artery, and the connecting vessel between the pulmonary artery and left common carotid artery was thought to be ductal tissue. However, there have been no reports that have followed the natural closure of this vessel. We present a case in whom we could observe the closing process of this vessel at the connection between the left common carotid artery and main pulmonary artery in association with a tetralogy of Fallot.


Assuntos
Anormalidades Múltiplas , Procedimentos Cirúrgicos Cardíacos/métodos , Artéria Carótida Primitiva/anormalidades , Permeabilidade do Canal Arterial/cirurgia , Artéria Pulmonar/anormalidades , Tetralogia de Fallot/cirurgia , Malformações Vasculares/cirurgia , Permeabilidade do Canal Arterial/diagnóstico , Ecocardiografia , Feminino , Humanos , Recém-Nascido , Tetralogia de Fallot/diagnóstico , Tomografia Computadorizada por Raios X , Malformações Vasculares/diagnóstico
15.
Ann Thorac Surg ; 108(2): e99-e101, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30742820

RESUMO

Valve-sparing aortic root replacement is one of the effective repairs for aortic regurgitation resulting from progressive dilatation of the aortic root late after surgical correction of conotruncal anomaly. However, feasibility and effectiveness of this procedure are unknown for unrepaired physiology. A 32-year-old man presented with unrepaired tetralogy of Fallot (TOF) and moderate aortic regurgitation with severe left ventricular dysfunction. Valve-sparing aortic root replacement and TOF repair were simultaneously performed. Six months after the surgical procedure, aortic regurgitation remained trivial. Concomitant valve-sparing aortic root replacement with TOF repair can be feasible and effective for unrepaired TOF with aortic regurgitation.


Assuntos
Insuficiência da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Procedimentos Cirúrgicos Cardíacos/métodos , Implante de Prótese de Valva Cardíaca/métodos , Tetralogia de Fallot/cirurgia , Adulto , Valva Aórtica/diagnóstico por imagem , Insuficiência da Valva Aórtica/diagnóstico , Insuficiência da Valva Aórtica/etiologia , Ecocardiografia Doppler em Cores , Humanos , Masculino , Tetralogia de Fallot/complicações , Tetralogia de Fallot/diagnóstico
16.
Clin Sci (Lond) ; 133(2): 225-238, 2019 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-30610007

RESUMO

Tetralogy of Fallot (TOF) is the most common cyanotic form of congenital heart defects (CHDs). The right ventricular hypertrophy is associated with the survival rate of patients with repaired TOF. However, very little is known concerning its genetic etiology. Based on mouse model studies, a disintergrin and metalloprotease 10/17 (ADAM10 and ADAM17) are the key enzymes for the NOTCH and ErbB pathways, which are critical pathways for heart development. Mutations in these two genes have not been previously reported in human TOF patients. In this study, we sequenced ADAM10 and ADAM17 in a Han Chinese CHD cohort comprised of 80 TOF patients, 286 other CHD patients, and 480 matched healthy controls. Three missense variants of ADAM17 were only identified in 80 TOF patients, two of which (Y42D and L659P) are novel and not found in the Exome Aggregation Consortium (ExAC) database. Point mutation knock-in (KI) and ADAM17 knock-out (KO) human embryonic stem cells (hESCs) were generated by CRISPR/Cas9 and programmed to differentiate into cardiomyocytes (CMs). Y42D or L659P KI cells or complete KO cells all developed hypertrophy with disorganized sarcomeres. RNA-seq results showed that phosphatidylinositide 3-kinases/protein kinase B (PI3K/Akt), which is downstream of epidermal growth factor receptor (EGFR) signaling, was affected in both ADAM17 KO and KI hESC-CMs. In vitro experiments showed that these two mutations are loss-of-function mutations in shedding heparin-binding EGF-like growth factor (HB-EGF) but not NOTCH signaling. Our results revealed that CM hypertrophy in TOF could be the result of mutations in ADAM17 which affects HB-EGF/ErbB signaling.


Assuntos
Proteína ADAM17/genética , Cardiomegalia/genética , Fator de Crescimento Semelhante a EGF de Ligação à Heparina/metabolismo , Células-Tronco Embrionárias Humanas/enzimologia , Mutação com Perda de Função , Mutação de Sentido Incorreto , Miócitos Cardíacos/enzimologia , Tetralogia de Fallot/genética , Proteína ADAM17/metabolismo , Animais , Células COS , Cardiomegalia/enzimologia , Cardiomegalia/patologia , Estudos de Casos e Controles , Diferenciação Celular , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Células HEK293 , Células-Tronco Embrionárias Humanas/patologia , Humanos , Lactente , Masculino , Miócitos Cardíacos/patologia , Fenótipo , Transdução de Sinais , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/enzimologia
17.
J Am Heart Assoc ; 8(2): e010903, 2019 01 22.
Artigo em Inglês | MEDLINE | ID: mdl-30651018

RESUMO

Background The relative impact of right ventricular ( RV ) electromechanical dyssynchrony versus pulmonary regurgitation ( PR ) on exercise capacity and RV function after tetralogy of Fallot repair is unknown. We aimed to delineate the relative effects of these factors on RV function and exercise capacity. Methods and Results We retrospectively analyzed 81 children with tetralogy of Fallot repair using multivariable regression. Predictor parameters were electrocardiographic QRS duration reflecting electromechanical dyssynchrony and PR severity by cardiac magnetic resonance. The outcome parameters were exercise capacity (percentage predicted peak oxygen consumption) and cardiac magnetic resonance ejection fraction (RV ejection fraction). To understand the relative effects of RV dyssynchrony versus PR on exercise capacity and RV function, virtual patient simulations were performed using a closed-loop cardiovascular system model (CircAdapt), covering a wide spectrum of disease severity. Eighty-one patients with tetralogy of Fallot repair (median [interquartile range { IQR} ] age, 14.48 [11.55-15.91] years) were analyzed. All had prolonged QRS duration (median [IQR], 144 [123-152] ms), at least moderate PR (median [IQR], 40% [29%-48%]), reduced exercise capacity (median [IQR], 79% [68%-92%] predicted peak oxygen consumption), and reduced RV ejection fraction (median [IQR], 48% [44%-52%]). Longer QRS duration, more than PR , was associated with lower oxygen consumption and lower RV ejection fraction. In a multivariable regression analysis, oxygen consumption decreased with both increasing QRS duration and PR severity. CircAdapt modeling showed that RV dyssynchrony exerts a stronger limiting effect on exercise capacity and on RV ejection fraction than does PR , regardless of contractile function. Conclusions In both patient data and computer simulations, RV dyssynchrony, more than PR , appears to be associated with reduced exercise capacity and RV systolic dysfunction in patients after TOF repair.


Assuntos
Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Tolerância ao Exercício/fisiologia , Ventrículos do Coração/fisiopatologia , Complicações Pós-Operatórias , Insuficiência da Valva Pulmonar/fisiopatologia , Tetralogia de Fallot/cirurgia , Disfunção Ventricular Direita/etiologia , Adolescente , Criança , Estudos Transversais , Progressão da Doença , Eletrocardiografia , Feminino , Seguimentos , Ventrículos do Coração/diagnóstico por imagem , Humanos , Imagem Cinética por Ressonância Magnética/métodos , Masculino , Consumo de Oxigênio , Prognóstico , Insuficiência da Valva Pulmonar/diagnóstico , Insuficiência da Valva Pulmonar/etiologia , Estudos Retrospectivos , Volume Sistólico , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/fisiopatologia , Disfunção Ventricular Direita/diagnóstico , Disfunção Ventricular Direita/fisiopatologia
19.
J Matern Fetal Neonatal Med ; 32(21): 3699-3702, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30001653

RESUMO

Tetralogy of Fallot with pulmonary atresia, a severe form of tetralogy of Fallot, is characterized by the absence of flow from the right ventricle to the pulmonary arteries. This cardiac abnormality is challenging and complex due to its many different anatomic variants. The main source of variability is the pulmonary artery anatomy, ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries replaced by major aorto-pulmonary collateral arteries (MAPCAs) that provide all of the pulmonary blood flow. Since the four-chamber view is usually normal on prenatal sonography, the diagnosis may be missed unless additional cardiac views are studied. Fetal Intelligent Navigation Echocardiography (FINE) is a novel method developed recently that allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying "intelligent navigation" technology to spatiotemporal image correlation volume datasets. We report herein for the first time, two different cases of tetralogy of Fallot with pulmonary atresia having variable sources of pulmonary blood flow in which the prenatal diagnosis was made successfully using the FINE method. Virtual Intelligent Sonographer Assistance (VIS-Assistance®) and automatic labeling (both features of FINE) were very helpful in making such diagnosis.


Assuntos
Ecocardiografia/métodos , Coração Fetal/diagnóstico por imagem , Atresia Pulmonar/diagnóstico , Tetralogia de Fallot/diagnóstico , Ultrassonografia Pré-Natal/métodos , Adulto , Evolução Fatal , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Recém-Nascido , Morte Perinatal , Gravidez , Artéria Pulmonar/diagnóstico por imagem , Atresia Pulmonar/complicações , Tetralogia de Fallot/complicações
20.
Cardiol Young ; 29(2): 133-139, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30474577

RESUMO

BACKGROUND: A transannular patch is often used in the contemporary surgical repair of tetralogy of Fallot. This can lead to significant pulmonary insufficiency and increased right ventricular volumes and ultimately pulmonary valve replacement. Cardiopulmonary exercise testing is used to assess exercise capacity in tetralogy of Fallot patients before pulmonary valve replacement. There is only few published literatures on how lung function affects functional capacity in tetralogy of Fallot patients repaired with a transannular patch. METHODS: A retrospective chart review was done from 2015 to 2017 on patients with tetralogy of Fallot who underwent maximal effort cardiopulmonary exercise testing with cycle ergometry and with concurrent pulmonary function testing. Tetralogy of Fallot patients repaired with a transannular patch without pulmonary valve replacement were compared with age, gender, and size-matched normal controls. RESULTS: In the tetralogy of Fallot group, 24 out of 57 patients underwent primary repair with a transannular patch. When compared to the normal controls, they demonstrated abnormal predicted forced expiratory volume in one second (79 ± 23.1% versus 90.7 ± 14.1%, p<0.05), predicted maximal voluntary ventilation (74 ± 18% versus 90.5 ± 16.2%, p<0.05) while having low-normal predicted forced vital capacity (80.5 ± 17.2% versus 90.2 ± 12.4%, p<0.05) and normal breathing reserve percentage (50.3 ± 11.3% versus 47.5 ± 17.3%, p = 0.52). Cardiopulmonary exercise testing abnormalities included significantly lower percent predicted oxygen consumption (63.2 ± 12.2% versus 87 ± 12.1%, p<0.05), maximal heart rate (171.8 ± 18.9 versus 184.6 ± 13.6, p<0.05), and percent predicted maximum workload (61.7 ± 15.9% versus 88.3 ± 21.5%, p<0.05). CONCLUSIONS: Tetralogy of Fallot patients repaired with a transannular patch can have abnormal pulmonary function testing with poor exercise capacity in addition to chronotropic incompetence and impaired muscular power.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Tolerância ao Exercício/fisiologia , Pulmão/fisiopatologia , Tetralogia de Fallot/fisiopatologia , Adulto , Teste de Esforço/métodos , Feminino , Seguimentos , Humanos , Pulmão/diagnóstico por imagem , Masculino , Consumo de Oxigênio , Testes de Função Respiratória/métodos , Estudos Retrospectivos , Tetralogia de Fallot/diagnóstico , Tetralogia de Fallot/cirurgia , Adulto Jovem
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