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2.
Wiad Lek ; 72(11 cz 1): 2135-2144, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31860861

RESUMO

OBJECTIVE: Introduction: Personality traits of patients suffering from congenital heart defects The work presents a research project carried out in John Paul II Hospital, The Clinical Department of Cardiac and Vascular Diseases with the Intensive Cardiac Surgeon Division Institute of Cardiology, Collegium Medicum of the Jagiellonian University in Cracow, with participation of patients with congenital heart defects. We aimed to assess personality traits of clients suffering from congenital heart defects, in a group of women and men, younger, under 40 years old and older than 40 years old, with PFO and ASD before and after surgery. The aim: identify specific personality traits of patients with congenital heart defects and to check the psychological functioning of patients by examining: the level of anxiety, impulsiveness, tendency to risk-taking, empathy, neuroticism, extraversion, psychoticism and lying. PATIENTS AND METHODS: Material and methods: We performed a psychological clinical assessment and conducted the psychological tests like EPQ-R(S) by Hans J. Eysenck and Sybil G. Eysenck, IVE by Hans J. Eysenck and Sybil G. Eystenck, STAI by C. D. Spielberger, R. L. Gorsuch, R. E. Lushene describing personality traits of patients. RESULTS: Results: Patients (F=29, M=21), adult, with ASD and with PFO, with the level of education: basic, vocational, secondary, incomplete higher, higher; inhabiting: village, city up to 40 thousand residents, a city with a population of 41-61 thousand, and a city with a population of 60 thousand; civil status: single, married, divorced, widow/widower, separated; being: students, unemployed persons, working persons, pensioners, retirees. CONCLUSION: Conclusions: The presented results and their statistical analyses showed specific personality traits of patients with congenital heart defects.


Assuntos
Cardiopatias Congênitas , Personalidade , Adulto , Feminino , Humanos , Masculino , Neuroticismo , Estresse Psicológico
3.
Pan Afr Med J ; 33: 312, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31692927

RESUMO

Congenital malformations of the aortic arches are a heterogeneous group of diseases associated with developmental disorders of the primitive branchial arches during fetal life. The coarctation of the aorta is a common congenital vascular malformation which is a congenital narrowing of the aortic isthmus, a segment of the aorta between the left subclavian artery and the ductus arteriosus. The interruption of the aortic arch is considered by some authors as an extreme coarctation of the aorta, characterized by discontinuity between ascending and descending aorta. These abnormalities are integrated, in most cases, in the context of cardiac malformations from which they are indivisible. CT angiogram plays an essential role in the examination of these abnormalities, their preoperative assessment and their follow-up in the long term. We conducted a retrospective study of 42 patients undergoing CT angiogram following the detection of heart disease on echocardiography. CT angiogram was performed in 6 cases. The average age of patients was 2 years, ranging from 6 days to 14 years; a male predominance was reported with a sex ratio of 1,6. The main diseases were: coarctation of the aorta: 18 cases; hypoplasies of the aortic arch: 8 cases; interruptions of the aortic arch: 7 cases; abnormalities of the aortic arches: 9 cases. Some of these abnormalities were associated. Extracardiac abnormalities associated with congenital heart diseases are relatively frequent; multislice scanner allows for good analysis of the cardiac afferent and efferent pathways. CT complements echocardiogram for pre-treatment assessment of the main malformative diseases, especially for the detection of the associated extra-cardiac vascular abnormalities, thanks to its satisfactory tridimensional multiplanar exploration. It tends to supplant angiography in many pathological malformations for several reasons: it is less invasive; it provides high-resolution 3D images useful to surgeons; it established the anatomical diagnosis, assesses tracheal compression and any associated malformation; it guides surgical treatment.


Assuntos
Aorta Torácica/diagnóstico por imagem , Coartação Aórtica/diagnóstico por imagem , Angiografia por Tomografia Computadorizada/métodos , Cardiopatias Congênitas/diagnóstico por imagem , Adolescente , Aorta Torácica/anormalidades , Criança , Pré-Escolar , Ecocardiografia/métodos , Feminino , Humanos , Imagem Tridimensional/métodos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos
4.
Medicine (Baltimore) ; 98(45): e17653, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31702616

RESUMO

PURPOSE: Recent genetic association studies showed conflicting results on the relationship of miRNA single-nucleotide polymorphisms (SNPs) and congenital heart disease (CHD) risk. The purpose of the present systematic review was to collect the current available evidences to evaluate the association between miRNA polymorphisms and CHD risk. METHODS: Four electronic databases including PubMed, EMBASE, ISI Web of Science, and CENTRAL were extensively searched for relevant studies published before February, 2019. Observational studies determining the association between miRNA polymorphisms and risk of CHD were included. Risk of bias was evaluated using the Newcastle-Ottawa Scale by 2 independent researchers. Major characteristics of each study and estimation of effect size of individual locus polymorphism were summarized. In addition, meta-analysis was performed to quantify the associations between miRNA polymorphisms and CHD risk. RESULTS: Nine studies containing 6502 CHD patients and 6969 healthy controls were included in this systematic review. Ten loci in 9 miRNAs were reported. Only rs11614913 in miR-196a2 was determined to have significant associations with CHD susceptibility, which was supported by meta-analysis (CC vs CT+TT: odds ratio 1.54, 95% confidence interval 1.30, 1.82; P < .00001). A strong evidence indicated lack of association between rs2910164 in miR-146a and CHD. Limited or conflicting evidences were found for the associations of the other variants (rs11134527, rs139365823, rs76987351, rs3746444, rs4938723, rs2292832, rs41291957, rs895819) and risk of CHD. CONCLUSIONS: Locus polymorphisms in miRNAs are not generally associated with CHD. Only rs11614913 was found to have significant associations with CHD. Further studies will be needed, using larger populations of different ethnicities, to obtain a better understanding of these associations.


Assuntos
Cardiopatias Congênitas/genética , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Razão de Chances
5.
Braz J Cardiovasc Surg ; 34(5): 637-639, 2019 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-31719017

RESUMO

Quadricuspid aortic valve (QAV) is a rare cardiac malformation. Many cases are incidentally diagnosed in aortic surgeries or autopsies and it usually appears as an isolated anomaly. The most widely classification used is the one by Hurwitz and Roberts[], which divides 7 alphabetical subtypes based on the cusps size. The aim of this report is to describe three different anatomic presentations of this rare aortic valve anomaly.


Assuntos
Valva Aórtica/anormalidades , Valva Aórtica/patologia , Cardiopatias Congênitas/patologia , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/cirurgia , Ecocardiografia , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/cirurgia , Implante de Prótese de Valva Cardíaca/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
6.
Medicine (Baltimore) ; 98(41): e17333, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31593082

RESUMO

Patients with structural heart disease (SHD) are more difficult to ablate than those with a structurally healthy heart. The reason may be technical problems. We compared periprocedural data in unselected patients (including SHD group) recruited for zero-fluoroscopy catheter ablation (ZF-CA) of supraventricular arrhythmias (SVTs).Consecutive adult patients with atrioventricular nodal reentry tachycardia (AVNRT), accessory pathways (AP), atrial flutter (AFL), and atrial tachycardia (AT) were recruited. A 3-dimensional electroanatomical mapping system (Ensite Velocity, NavX, St Jude Medical, Lake Bluff, Illinois) was used to create electroanatomical maps and navigate catheters. Fluoroscopy was used on the decision of the first operator after 5 minutes of unresolved problems.Of the 1280 patients ablated with the intention to be treated with ZF approach, 174 (13.6%) patients with SHD (age: 58.2 ±â€Š13.6; AVNRT: 23.9%; AP: 8.5%; AFL: 61.4%; and AT: 6.2%) were recruited. These patients were compared with the 1106 patients with nonstructural heart disease (NSHD) (age: 51.4 ±â€Š16.4; AVNRT: 58.0%; AP: 17.6%; AFL: 20.7%; and AT: 3.7% P ≤ .001). Procedural time (49.9 ±â€Š24.6 vs 49.1 ±â€Š23.9 minutes, P = .55) and number of applications were similar between groups (P = 0.08). The rate of conversion from ZF-CA to fluoroscopy was slightly higher in SHD as compared to NSHD (13.2% vs 7.8%, P = .02) while the total time of fluoroscopy and radiation doses were comparable in the group of SHD and NSHD (P = .55; P = .48).ZF-CA is feasible and safe in majority of patients with SHD and should be incorporated into a standard approach for SHD; however, the procedure requires sufficient experience.


Assuntos
Arritmias Cardíacas/cirurgia , Ablação por Cateter/métodos , Fluoroscopia/métodos , Cardiopatias Congênitas/cirurgia , Taquicardia Supraventricular/cirurgia , Adulto , Idoso , Arritmias Cardíacas/congênito , Estudos de Viabilidade , Feminino , Cardiopatias Congênitas/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Taquicardia Supraventricular/congênito , Resultado do Tratamento
7.
Health Qual Life Outcomes ; 17(1): 152, 2019 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-31604454

RESUMO

BACKGROUND: Little is known about health-related quality of life (HRQoL) in pediatric patients with cardiac rhythm devices. This study aims to compare self- and proxy-reported HRQoL in patients with pacemaker (PM) and implantable cardioverter-defibrillator (ICD) to that in sex- and age-matched healthy controls and to examine predictors for generic and disease-specific HRQoL. METHODS: The study included 72 PM and ICD patients (39% females) and 72 sex- and age-matched healthy controls from 3 to 18 years of age. HRQoL data was obtained by the PedsQL 4.0 Generic Core Scales and Pediatric Cardiac Quality of Life Inventory. Medical data was collected retrospectively from medical records. RESULTS: Patients had significantly lower self- and proxy-reported generic overall HRQoL and lower physical health than healthy controls, and ICD patients also had lower psychosocial health. On multivariate analyses, generic overall HRQoL and physical health was significantly predicted by current cardiac medication (ß = -.39, p = .02 for overall HRQoL, respectively ß = -.44, p = .006 for physical health). Disease-specific overall HRQoL was only marginally predicted by child age, device type, and the presence of a structural congenital heart disease (p < .10). CONCLUSIONS: This study shows that PM and ICD patients have lower HRQoL than healthy controls and that patients who need cardiac medication are seen by their parents at great risk for lower generic overall HRQoL. Our study also indicates a trend towards higher risk for low disease-specific HRQoL in younger patients, ICD patients, and patients with a structural congenital heart disease. Special attention should be given to these patients as they may benefit from a timely clinical evaluation in order to provide supportive interventions.


Assuntos
Desfibriladores Implantáveis/psicologia , Marca-Passo Artificial/psicologia , Qualidade de Vida , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Cardiopatias Congênitas/psicologia , Humanos , Masculino , Procurador , Estudos Retrospectivos
8.
Br J Anaesth ; 123(6): 839-852, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31623840

RESUMO

BACKGROUND: Dexmedetomidine (DEX) is increasingly used intraoperatively in infants undergoing cardiac surgery. This phase 1 multicentre study sought to: (i) determine the safety of DEX for cardiac surgery with cardiopulmonary bypass; (ii) determine the pharmacokinetics (PK) of DEX; (iii) create a PK model and dosing for steady-state DEX plasma levels; and (iv) validate the PK model and dosing. METHODS: We included 122 neonates and infants (0-180 days) with D-transposition of the great arteries, ventricular septal defect, or tetralogy of Fallot. Dose escalation was used to generate NONMEM® PK modelling, and then validation was performed to achieve low (200-300 pg ml-1), medium (400-500 pg ml-1), and high (600-700 pg ml-1) DEX plasma concentrations. RESULTS: Five of 122 subjects had adverse safety outcomes (4.1%; 95% confidence interval [CI], 1.8-9.2%). Two had junctional rhythm, two had second-/third-degree atrioventricular block, and one had hypotension. Clearance (CL) immediately postoperative and CL on CPB were reduced by approximately 50% and 95%, respectively, compared with pre-CPB CL. DEX clearance after CPB was 1240 ml min-1 70 kg-1. Age at 50% maximum clearance was approximately 2 days, and that at 90% maximum clearance was 18 days. Overall, 96.1% of measured DEX concentrations fell within the 5th-95th percentile prediction intervals in the PK model validation. Dosing strategies are recommended for steady-state DEX plasma levels ranging from 200 to 1000 pg ml-1. CONCLUSIONS: When used with a careful dosing strategy, DEX results in low incidence and severity of adverse safety events in infants undergoing cardiac surgery with cardiopulmonary bypass. This validated PK model should assist clinicians in selecting appropriate dosing. The results of this phase 1 trial provide preliminary data for a phase 3 trial of DEX neuroprotection. CLINICAL TRIALS REGISTRATION: NCT01915277.


Assuntos
Dexmedetomidina/administração & dosagem , Dexmedetomidina/efeitos adversos , Cardiopatias Congênitas/cirurgia , Hipnóticos e Sedativos/administração & dosagem , Hipnóticos e Sedativos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos , Relação Dose-Resposta a Droga , Feminino , Humanos , Lactente , Recém-Nascido , Infusões Intravenosas , Masculino
9.
Medicine (Baltimore) ; 98(42): e17413, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31626096

RESUMO

INTRODUCTION: VACTERL association is an acronym that includes vertebral anomalies (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TEF) or esophageal atresia (EA), renal anomalies (R), and limb defects (L). Airway anomalies have rarely been reported with VACTERL association. PATIENT CONCERNS: A 10-month-old boy who had been diagnosed with anal atresia and received surgical corrections soon after birth consulted our institution by complaining repeated cough and fever. DIAGNOSIS: Diagnosis of VACTERL association was finally made. Bronchoscopy and chest CT with computed tomography angiography confirmed multiple airway abnormalities including bridging bronchus, airway malacia, and complete tracheal rings. INTERVENTIONS: Supplemental oxygen was provided and antibiotics was initiated. OUTCOMES: The patient resolved gradually and was discharged 10 days later. The follow-up showed the patient has remained well just with mild psychomotor retardation. CONCLUSION: Multiple airway anomalies may be seen in VACTERL association. It is worthwhile to make special note for evaluating the tracheobronchial pulmonary system by chest CT and bronchoscopy, especially patients presenting with breathing anomalies.


Assuntos
Canal Anal/anormalidades , Esôfago/anormalidades , Cardiopatias Congênitas/diagnóstico , Rim/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/etiologia , Manuseio das Vias Aéreas/métodos , Broncoscopia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/terapia , Humanos , Lactente , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/terapia , Masculino , Oxigenoterapia , Tórax/anormalidades , Tórax/diagnóstico por imagem , Tibet , Tomografia Computadorizada por Raios X
10.
Medicine (Baltimore) ; 98(42): e17492, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31626103

RESUMO

Fetal pulmonary atresia with intact ventricular septum (PA/IVS) is a rare congenital heart disease. The present study aimed to classify PA/IVS and determine the relationship between prenatal echocardiographic characteristics and postnatal biventricular or univentricular repair strategies.A total of 51 fetuses with PA/IVS were examined from 2012 to 2019. Data on prenatal echocardiography, associated anomaly, karyotype, and outcome were collected. Two-dimensional measurements included tricuspid valve (TV) z-score, mitral valve (MV) z-score, TV/MV ratio, and ratio of right to left ventricle (RV/LV) length, whereas color Doppler measurements included degree of tricuspid regurgitation (TR), ventriculo-coronary artery communication (VCAC), tricuspid inflow duration (TID), cardiac cycle duration (CCD), middle cerebral artery pulsatility index (MCA PI), and umbilical artery pulsatility index (UA PI). Diagnostic classification was based on the development of RV and the presence or absence of VCAC. Postnatal evaluation was divided according biventricular or univentricular repair.Of the 51 fetuses with PA/IVS, 20 were type I, 17 were type II, and 14 were type III. Only one fetus exhibited right aortic arch. The karyotype of all the fetuses was normal. Of the 28 patients who underwent postnatal surgery, 13 (46%) underwent biventricular repair and 15 (54%) underwent univentricular repair. TV z-score was significantly higher for the biventricular repair group compared with univentricular repair group (-1.20 ±â€Š0.98 vs -4.33 ±â€Š0.80, P = .000). TV/MV, RV/LV length, and TID/CCD were significantly higher for the biventricular repair group than the univentricular repair group (0.81 ±â€Š0.14 vs 0.54 ±â€Š0.09, 0.71 ±â€Š0.11 vs 0.49 ±â€Š0.09, 39.20 ±â€Š3.84 vs 29.16 ±â€Š4.58, P = .000). Moderate or severe TR and VCAC were significantly different between the 2 groups (P = .000). Gestational age, MCA PI, and UA PI did not differ between the 2 groups (P = .72, P = .36, P = .06). The cutoff values for the biventricular repair characteristic curves were TV z-score >-3.28, TV/MV ratio >0.71, RV/LV length >0.62, and TID/CCD >33.95%. The sensitivities of the TV z-score, TV/MV, RV/LV length, and TID/CCD were 100%, 77%, 85%, and 92%, respectively. The specificities of the TV z-score, TV/MV, RV/LV length, and TID/CCD were 94%, 100%, 100%, and 94%, respectively.Fetal echocardiography was able to classify PA/IVS according to variable degree of RV and VCAC. In fetal PA/IVS, TV z-score >-3.28, TV/MV >0.71, RV/LV length >0.62, TID/CCD >33.95%, moderate and severe TR, and the absence of VCAC were associated with postnatal biventricular repair strategy. These findings may have implications for prenatal counseling and prediction of fetal outcome.


Assuntos
Ecocardiografia/estatística & dados numéricos , Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/classificação , Cardiopatias Congênitas/diagnóstico por imagem , Atresia Pulmonar/classificação , Atresia Pulmonar/diagnóstico por imagem , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto , Ecocardiografia/métodos , Feminino , Idade Gestacional , Cardiopatias Congênitas/embriologia , Humanos , Valor Preditivo dos Testes , Gravidez , Prognóstico , Atresia Pulmonar/embriologia , Valores de Referência , Sensibilidade e Especificidade , Ultrassonografia Pré-Natal/métodos , Adulto Jovem
11.
Medicine (Baltimore) ; 98(42): e17615, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31626139

RESUMO

BACKGROUND: The Fontan circulation is fragile, which is easily broken down. For now, there is no consensus on the drug treatment for the prevention of failure of the Fontan circulation. METHODS: Studies comparing pulmonary vasodilator and control in Fontan patients were identified by searching the PubMed, EMBASE, Clinical Trials, and the Cochrane Library databases until March 20, 2019. The assessed variables included the change of pulmonary resistance, heart function, exercise capacity, life of quality, mortality, and serials of adverse events before and after drug administration. A random-effect/fixed-effect model was used to summarize the estimates of the mean difference (MD)/risk ratio (RR) with 95% confidence interval (CI). Subgroup analysis stratified by drug was performed. RESULTS: This study will be submitted to a peer-reviewed journal for publication. CONCLUSION: This study will assess the efficacy and safety of pulmonary vasodilators for patients after Fontan procedure, and provide more evidence-based guidance in clinical practice. PROSPERO REGISTRATION NUMBER: CRD42019132135.


Assuntos
Técnica de Fontan/métodos , Cardiopatias Congênitas/cirurgia , Hipertensão Pulmonar/tratamento farmacológico , Circulação Pulmonar/efeitos dos fármacos , Pressão Propulsora Pulmonar/efeitos dos fármacos , Vasodilatadores/uso terapêutico , Cardiopatias Congênitas/fisiopatologia , Humanos , Hipertensão Pulmonar/fisiopatologia
12.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi ; 36(5): 728-736, 2019 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-31631620

RESUMO

Cardiac auscultation is the basic way for primary diagnosis and screening of congenital heart disease(CHD). A new classification algorithm of CHD based on convolution neural network was proposed for analysis and classification of CHD heart sounds in this work. The algorithm was based on the clinically collected diagnosed CHD heart sound signal. Firstly the heart sound signal preprocessing algorithm was used to extract and organize the Mel Cepstral Coefficient (MFSC) of the heart sound signal in the one-dimensional time domain and turn it into a two-dimensional feature sample. Secondly, 1 000 feature samples were used to train and optimize the convolutional neural network, and the training results with the accuracy of 0.896 and the loss value of 0.25 were obtained by using the Adam optimizer. Finally, 200 samples were tested with convolution neural network, and the results showed that the accuracy was up to 0.895, the sensitivity was 0.910, and the specificity was 0.880. Compared with other algorithms, the proposed algorithm has improved accuracy and specificity. It proves that the proposed method effectively improves the robustness and accuracy of heart sound classification and is expected to be applied to machine-assisted auscultation.


Assuntos
Cardiopatias Congênitas/diagnóstico , Ruídos Cardíacos , Algoritmos , Humanos , Sensibilidade e Especificidade
13.
Mymensingh Med J ; 28(4): 945-948, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31599266

RESUMO

Cardiofacial syndrome is associated with facial abnormality with congenital heart disease. Here, we report a case of cardiofacial syndrome having anotia and facial nerve palsy on the right side in combination with infundibular pulmonary stenosis and patent ductus arteriosus which is a rare presentation of cardiofacial syndrome. A 6 years old girl presented to department of Cardiac surgery of Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh with the complaints of shortness of breath on exertion since 2 years of age. Her physical examination revealed right sided anotia and facial nerve palsy associated harsh ejection systolic murmur in upper left parasternal area. Echocardiography showed critical infundibular pulmonary stenosis with a small patent ductus arteriosus. She underwent ligation of patent ductus arteriosus and excision of infundibular muscular bands and discharged to home without any complication. Any child presented with facial abnormality should be checked for any cardiac abnormality for early intervention and better management of the patient.


Assuntos
Permeabilidade do Canal Arterial , Paralisia Facial , Cardiopatias Congênitas , Bangladesh , Criança , Ecocardiografia , Feminino , Humanos
14.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 44(9): 968-975, 2019 Sep 28.
Artigo em Chinês | MEDLINE | ID: mdl-31645484

RESUMO

OBJECTIVE: To explore the effects of KIAA0196 gene on cardiac development and the establishment of zebrafish strain.
 Methods: Peripheral blood and gDNA from patients were extracted. Copy number variation analysis and target sequencing were conducted to screen candidate genes. The KIAA0196 knockout zebrafish was generated by CRISPR/Cas9 to detect whether KIAA0196 deficiency could affect cardiac development. Finally, the wild-type and mutant zebrafish were anatomized and histologically stained to observe the phenotype of heart defects.
 Results: The KIAA0196 knockout zebrafish strain was successfully constructed using CRISPR/Cas9 technology. After 60 hours fertilization, microscopic examination of KIAA0196 knockout zebrafish (heterozygote + homozygote) showed pericardial effusion, cardiac compression and severely curly tail. Compared with wild-type zebrafish, the hearts of mutant KIAA0196 zebrafish had cardiac defects including smaller atrium and larger ventricle, and the myocardial cells were looser.
 Conclusion: KIAA0196 gene plays an important regulatory role in the development of heart. It might be a candidate gene for congenital heart disease.


Assuntos
Cardiopatias Congênitas/genética , Proteínas de Peixe-Zebra/genética , Peixe-Zebra/genética , Animais , Variações do Número de Cópias de DNA , Coração , Humanos , Miócitos Cardíacos , Fenótipo , Proteínas
15.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 44(9): 1035-1040, 2019 Sep 28.
Artigo em Chinês | MEDLINE | ID: mdl-31645494

RESUMO

OBJECTIVE: To analyse the clinical data of reoperations in congenital heart disease and discuss the management strategy of reoperation for congenital heart disease.
 Methods: We retrospectively studied the clinical data for patients underwent reoperation in congenital heart disease in Cardiovascular Surgery, Second Xiangya Hospital, Central South University from January 2007 to December 2015. Demographic and operative details, in-hospital mortality and major postoperative complications were analysed.
 Results: A total of 8 647 congenital heart disease surgery procedures were performed, including 147 (1.7%) reoperations. Among the patients, residual septal defect repair (30 cases, 20.4%), planed staged operation (28 cases, 19.0%), and Fontan procedure (20 cases, 13.6%) were the most common kinds of reoperation. In addition, 140 (95%) operations were through repeat sternotomies, 144 (98%) patients underwent operation with cardiopulmonary bypass, and 100 (68%) with cardiac arrest. Cardiopulmonary bypass and aortic cross clamp were maintained for 21-447 (135.5±87.8) minutes and 0-202 (49.9±49.7) minutes. There were 10 in-hospital deaths with a total mortality of 6.8%. The major complications included low cardiac output syndrome (24 cases, 16.3%), renal dysfunction (7 cases, 4.8%), respiratory insufficiency (14 cases, 9.5%), unplanned reoperations for drainage of haemorrhagic cardiac tamponade (4 cases), and delayed sternal closure (2 cases).
 Conclusion: Repeat sternotomy is the main way of reoperation, but it is not a major risk for operative mortality and morbidity. Improving the management of complex malformation, standardizing the follow-up, choosing the right timing of surgery, and reducing surgical complications will help reduce the risk of reoperation.


Assuntos
Cardiopatias Congênitas/cirurgia , Reoperação , Ponte Cardiopulmonar , Humanos , Complicações Pós-Operatórias , Estudos Retrospectivos , Resultado do Tratamento
16.
Medicine (Baltimore) ; 98(43): e17616, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31651874

RESUMO

RATIONALE: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and macrostomia, macroglossia. Subclinical hypothyroidism has never been reported in SGBS1 cases. PATIENT CONCERNS: An 8-days-old boy was referred to our hospital with persistent hypoglycemia and special facies. And the infant showed elevated levels of thyroid-stimulating hormone (TSH). Free T4 and free T3 were normal. DIAGNOSES: Definitive diagnosis of SGBS1 depends on clinical features and genetic testing. A nonsense mutation (c.1515C > A, p. Cys505*) was tested by whole-exome sequencing. INTERVENTIONS: Normal blood glucose levels were maintained with glucose infusions. Levothyroxine was given to the patient for treating subclinical hypothyroidism. OUTCOMES: The parents decided to abandon the treatment of the patient. We learned that the patient died of a lung infection by a telephone follow-up. LESSONS: Subclinical hypothyroidism could be added to the known clinical manifestations of SGBS1.


Assuntos
Arritmias Cardíacas/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Gigantismo/diagnóstico , Cardiopatias Congênitas/diagnóstico , Hipotireoidismo/diagnóstico , Deficiência Intelectual/diagnóstico , China , Diagnóstico Diferencial , Evolução Fatal , Humanos , Recém-Nascido , Masculino
17.
Medicine (Baltimore) ; 98(40): e17449, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31577770

RESUMO

BACKGROUND: Pulmonary artery sling (PAS) is rare, often with tracheal stenosis. And the postoperative mortality is high. For now, there is no consensus on the tracheoplasty for the patients with PAS and tracheal stenosis. METHODS: Studies involving surgical repair of PAS and tracheal stenosis with and without tracheoplasty were identified by searching the PubMed, EMBASE, and the Cochrane Library databases until June 5, 2019. The assessed variables included ventilation time, early and late mortality, and symptom at follow-up. A random-effect/fixed-effect model was used to summarize the estimates of the mean difference (MD)/risk ratio (RR) with 95% confidence interval (CI). RESULTS: This study will be submitted to a peer-reviewed journal for publication. CONCLUSION: This study will assess the safety and efficacy of tracheoplasty for patients with PAS and tracheal stenosis, and provide more evidence-based guidance in clinical practice. PROSPERO REGISTRATION NUMBER: CRD42019139788.


Assuntos
Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/cirurgia , Artéria Pulmonar/anormalidades , Procedimentos Cirúrgicos Reconstrutivos , Estenose Traqueal/complicações , Estenose Traqueal/cirurgia , Humanos
19.
Zhonghua Er Ke Za Zhi ; 57(9): 705-709, 2019 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-31530357

RESUMO

Objective: To characterize the clinical features and outcomes of scimitar syndrome (SS) to aid the understanding of this syndrome. Methods: This retrospective study included 6 children who were diagnosed with SS at the pediatric cardiovascular center of Beijing Anzhen Hospital from January 2012 to September 2018. SS was diagnosed by echocardiography and confirmed by cardiac computed tomography angiography(CTA) or surgery. All data were collected to analyze the clinical and imaging characteristics and prognosis. Results: Among the 6 SS children (aged 2 months to 15 years; 5 males) weighed 5.6-17.1 kg. Three cases were infant type, the clinical manifestations were recurrent respiratory tract infection with growth retardation, including 2 cases with severe pulmonary hypertension, while 3 cases with adult type, were asymptomatic. Cardiac CTA imaging showed that the right single or all pulmonary veins descended through the diaphragm and converged into the inferior vena cava. One case was isolated infracardiac partial anomalous pulmonary venous connection (PAPVC) without other malformations. The remaining 5 cases complicated with atrial septal defect, different vascular and trachea malformations as well as spinal malformations. Vascular malformations included pulmonary veins stenosis, abnormal origin of pulmonary artery branches, collateral branches of systemic artery supplying local lung tissue, and persistent left superior vena cava. The treatment varied according to the specific location of anomalous pulmonary venous connection, the degree of pulmonary hypertension and the severity of clinical symptoms. Four cases underwent one-stage radical surgery, one case accepted intervention to occlude the collateral artery which was supplying the right lower lung and received stage Ⅱ radical surgery half a year later, and the remaining one case died from pulmonary hypertension crisis preoperation. Conclusions: Isolated SS can easily miss diagnosis due to mild clinical symptoms. Patients with complicated malformations can benefit from combination therapy. SS associated with severe pulmonary hypertension can lead to early death. Therefore, early diagnosis and appropriate treatment can improve the prognosis of patients.


Assuntos
Anormalidades Múltiplas/diagnóstico , Síndrome de Cimitarra/diagnóstico , Adolescente , Criança , Pré-Escolar , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/complicações , Humanos , Lactente , Masculino , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Infecções Respiratórias/complicações , Estudos Retrospectivos , Síndrome de Cimitarra/etiologia , Síndrome de Cimitarra/mortalidade , Síndrome de Cimitarra/terapia
20.
Rev Port Cir Cardiotorac Vasc ; 26(2): 147-149, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31476817

RESUMO

We report the case of a 44 year-old patient with complex ACHD, admitted with acute decompensated heart failure (ADHF) in hemodynamic profile B. He had a single ventricle with pulmonary atresia, previously submitted to three modified Blalock-Taussig shunts (mBTs) at the age of 2, 12 and 19 years old. Despite conventional treatment with diuretics, ß-blockers (BB) and isosorbide dinitrate the patient progressed to profile C and the transthoracic echocardiogram disclosed a reduced systolic function. Likewise, levosimendan was commenced and an appropriate decongestion and a marked reduction in the NT-proBNP were seen. Treatment with angiotensin-converting-enzyme inhibitor, BB, ivabradine and mineralocorticoid receptor was optimized. The patient was discharged home after 26 days in NYHA class III and referred for heart transplant after right heart catheterization. To our knowledge, this is the first report of successful levosimendan's use in ADHF in a mBTs long-term survivor.


Assuntos
Fármacos Cardiovasculares/uso terapêutico , Cardiopatias Congênitas/cirurgia , Insuficiência Cardíaca/tratamento farmacológico , Ventrículos do Coração/anormalidades , Simendana/uso terapêutico , Adulto , Procedimento de Blalock-Taussig , Cardiopatias Congênitas/complicações , Insuficiência Cardíaca/etiologia , Ventrículos do Coração/cirurgia , Humanos , Masculino , Artéria Pulmonar/anormalidades , Artéria Pulmonar/cirurgia , Resultado do Tratamento
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