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1.
Medicine (Baltimore) ; 98(48): e18074, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31770224

RESUMO

INTRODUCTION: An atrial septal aneurysm (ASA) is a rare congenital cardiac deformity characterized by interatrial septum protruding into atria forming a saccular structure. PATIENT CONCERNS: In our case, a 42-year-old female patient presented to our hospital complained of palpitation. DIAGNOSIS: Transthoracic echocardiography detected a 3.4 × 3.4 cm circular mass attached to the interatrial septum in right atrium complicated with a 6 mm secundum atrial septal defects (ASD). INTERVENTIONS: The patient received a cardiopulmonary bypass surgery to remove the mass and close the ASD. OUTCOMES: The mass turned out to be an organized thrombus with calcium deposition and fibrinoid necrosis. CONCLUSION: ASA is a potential location of atrial thrombus because of the stagnation of blood. Systemic embolism events are the main complications of ASA. Surgery or anticoagulation is both recommended in patients with ASA with thrombus.


Assuntos
Aneurisma Cardíaco/congênito , Átrios do Coração/anormalidades , Comunicação Interatrial/complicações , Trombose/congênito , Adulto , Ponte Cardiopulmonar/métodos , Ecocardiografia , Feminino , Aneurisma Cardíaco/cirurgia , Comunicação Interatrial/cirurgia , Humanos , Trombose/cirurgia
2.
Medicine (Baltimore) ; 98(36): e17044, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31490396

RESUMO

RATIONALE: A single atrium is a rare congenital heart disease (CHD) involving zero atrial septal traces and preserved intact ventricular septum and atrioventricular valves, requiring careful surgical intervention. However, developing to Eisenmenger syndrome (ES) makes the surgery complicated. Based on bidirectional cardiac shunting, vegetation easily develops in case of bacterial infection. PATIENT CONCERN AND DIAGNOSES: We reported a 35-year-old woman with a single atrium, patent ductus arteriosus, pulmonary hypertension, and ES who developed infective endocarditis on her left ventricular outflow tract and complicated cerebral abscess and who underwent challenged medical treatment. INTERVENTION: Infection was successfully controlled after 4-time change in antibiotics over 4 months. However, surgery is complicated for her. OUTCOMES: The patient presented a relatively good outcome during follow-up for >6 months. LESSONS: This case report suggests that patients with complex CHD should accept surgery therapy earlier before developing ES. It is imperative to avoid invasive interventions to prevent infectious endocarditis.


Assuntos
Abscesso Encefálico/complicações , Permeabilidade do Canal Arterial/complicações , Complexo de Eisenmenger/complicações , Endocardite/complicações , Átrios do Coração/anormalidades , Adulto , Antibacterianos/uso terapêutico , Abscesso Encefálico/diagnóstico por imagem , Abscesso Encefálico/tratamento farmacológico , Endocardite/diagnóstico por imagem , Endocardite/tratamento farmacológico , Feminino , Humanos
3.
Br J Radiol ; 92(1102): 20190231, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31271542

RESUMO

Viscero-atrial situs encompasses the laterality, relative position and configuration of the abdominal viscera, the atria of the heart and the tracheobronchial tree. Determining the situs and cardiac position is the first step in the commonly used sequential, segmental approach to the imaging evaluation of congenital heart defects (CHD). Abnormalities of visceroatrial situs and cardiac position are frequently associated with the presence of complex CHDs and accurate assessment of situs abnormalities can help predict the probability and type of the defect. Multidetector CT (MDCT) angiography, with its multiplanar reformatting and volume rendering techniques, offers accurate information about the morphology and three-dimensional relationships of the various cardiac and extra cardiac structures. In this pictorial essay, we present the MDCT imaging findings of the spectrum of abnormalities of visceroatrial situs and cardiac position, using a third generation dual source CT scanner.


Assuntos
Angiografia por Tomografia Computadorizada/métodos , Cardiopatias Congênitas/diagnóstico por imagem , Tomografia Computadorizada Multidetectores , Vísceras/diagnóstico por imagem , Brônquios/anormalidades , Brônquios/diagnóstico por imagem , Coração/embriologia , Átrios do Coração/anormalidades , Átrios do Coração/diagnóstico por imagem , Cardiopatias Congênitas/embriologia , Humanos , Levocardia/diagnóstico por imagem , Fígado/anormalidades , Fígado/diagnóstico por imagem , Estômago/anormalidades , Estômago/diagnóstico por imagem , Traqueia/anormalidades , Traqueia/diagnóstico por imagem , Vísceras/anormalidades
5.
J Vet Cardiol ; 23: 112-121, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31174721

RESUMO

A 2-year-old intact female mixed breed dog was presented for ascites. Echocardiography demonstrated severe obstruction at the level of the caudal right atrium. Initially, a variant of cor triatriatum dexter was diagnosed, and balloon catheter dilation was performed. However, ascites recurred within a week. Further imaging revealed an obstruction at the entrance of the caudal vena cava into the right atrium rather than a dividing membrane in the right atrium. The diagnosis was revised to suprahepatic obstruction of the caudal vena cava because of remnant Eustachian valve tissue. Deployment of a balloon-expandable biliary stent was performed relieving the obstruction. Fifteen months after stent deployment, the patient is doing well without reaccumulation of ascitic fluid.


Assuntos
Doenças do Cão/terapia , Cardiopatias Congênitas/veterinária , Stents/veterinária , Animais , Ascite/veterinária , Cineangiografia/veterinária , Coração Triatriado/terapia , Doenças do Cão/congênito , Doenças do Cão/diagnóstico por imagem , Cães , Ecocardiografia/veterinária , Feminino , Átrios do Coração/anormalidades , Cardiopatias Congênitas/terapia , Veia Cava Inferior/anormalidades
6.
Int J Cardiovasc Imaging ; 35(7): 1339-1346, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30949869

RESUMO

To describe a novel time-resolved magnetic resonance angiography (TR-MRA) postprocessing technique using the time-resolved angiography with interleaved stochastic trajectories (TWIST) method to evaluate the pulmonary veins and left atrium in adults with congenital heart disease undergoing cardiac MRI. Institutional ethics committee approved the study. 21 consecutive adult patients (14 female, 7 male patients, mean age 28 years) with known congenital heart disease who underwent a cardiac MRI were included. Post-processing of the TR-MRA sequences created novel "subtracted" datasets. Two independent observers reviewed the conventional TWIST and novel subtracted TWIST data sets in source and maximum intensity projection (MIP) coronal reformats to assess visualization of the pulmonary veins and left atrium based on a 5-point scale. Quantitative signal to noise (SNR) comparison was performed. TR-MRA yielded diagnostic image data in 20/21 patients (95.2%). The novel "subtracted" TR-MRA technique improved visualization of the pulmonary veins and left atrium compared to the source TR-MRA sequence in 16/20 patients (mean scores 3.34 ± 0.69 vs. 2.92 ± 0.69, p < 0.008). Further improved visualization of the pulmonary veins and left atrium was observed in the subtracted MIP TWIST sequences compared to the MIP TWIST images (mean scores 4.43 ± 0.80 vs. 3.02 ± 0.87 vs., p < 0.001). No significant SNR difference between the source and novel subtracted group was observed (85.4 vs. 70.4, p = 0.57). Compared to source TR-MRA images, subtraction of TR-MRA images is a novel postprocessing technique that improves visualization of the pulmonary veins and left atrium in a substantial number of patients.


Assuntos
Átrios do Coração/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador/métodos , Angiografia por Ressonância Magnética/métodos , Imagem Cinética por Ressonância Magnética/métodos , Flebografia/métodos , Veias Pulmonares/diagnóstico por imagem , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Átrios do Coração/anormalidades , Humanos , Masculino , Valor Preditivo dos Testes , Estudos Prospectivos , Veias Pulmonares/anormalidades , Processos Estocásticos , Fatores de Tempo , Adulto Jovem
7.
J Cardiothorac Surg ; 14(1): 33, 2019 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-30736865

RESUMO

BACKGROUND: Congenital coronary artery fistula in association with aneurysm of the involved coronary artery in adults is rare. Moreover, the right coronary artery- left atrial fistula is also uncommon. Most of the cases are asymptomatic. However, symptomatic patients need therapeutic interventions. The potential complications associated with this anomaly are life-threatening, therefore, there is a need to explore more on differential diagnosis, investigations, management strategies and prevention of complications. CASE PRESENTATION: We present herewith a 26-year-old male patient with symptoms of chest pain and dyspnea. He was diagnosed with aneurysmal dilatation of the right coronary artery in its entire course which terminated as a fistulous communication into the left atrium. The closure of the fistula was done using autologous pericardial patch under cardiopulmonary bypass. Currently, the patient is being followed up after surgery and receiving anticoagulants. CONCLUSION: The advancement in the diagnostic imaging modalities have made it possible to find similar abnormalities more frequently. Due to rare nature of this anomaly, there is a need to explore and discuss management strategies that include medical management, surgical intervention or percutaneous interventions for a successful outcome.


Assuntos
Aneurisma Coronário/congênito , Aneurisma Coronário/diagnóstico por imagem , Fístula/congênito , Adulto , Ponte Cardiopulmonar , Dor no Peito/diagnóstico por imagem , Aneurisma Coronário/cirurgia , Angiografia Coronária , Anomalias dos Vasos Coronários/diagnóstico por imagem , Anomalias dos Vasos Coronários/cirurgia , Diagnóstico Diferencial , Fístula/diagnóstico por imagem , Fístula/cirurgia , Átrios do Coração/anormalidades , Átrios do Coração/diagnóstico por imagem , Humanos , Masculino , Tomografia Computadorizada por Raios X , Fístula Vascular/congênito , Fístula Vascular/diagnóstico por imagem , Fístula Vascular/cirurgia
8.
Braz J Cardiovasc Surg ; 34(1): 104-106, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30810683

RESUMO

Congenital aneurysm or enlargement of the right atrium is a rare condition. Two children operated on at the age of 14 months and 11 years old for congenital aneurysm of the right atrium are reported. Both presented cardiomegaly and symptoms of paroxysmal supraventricular tachycardia. Diagnosis was established by echocardiography. Surgical resection was successful. Both patients are free of symptoms and their chest X-ray and echocardiogram are normal. The first patient is now in her 17th postoperative year. The patients' evolution suggests that the surgery is a curative procedure.


Assuntos
Aneurisma Cardíaco/congênito , Aneurisma Cardíaco/cirurgia , Adolescente , Dilatação Patológica , Ecocardiografia , Eletrocardiografia , Feminino , Aneurisma Cardíaco/diagnóstico por imagem , Átrios do Coração/anormalidades , Átrios do Coração/diagnóstico por imagem , Átrios do Coração/cirurgia , Humanos , Lactente , Masculino , Radiografia Torácica , Resultado do Tratamento
9.
J Clin Ultrasound ; 47(5): 312-314, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30681156

RESUMO

Partial anomalous pulmonary venous connection is a rare congenital disease characterized by drainage of one or several pulmonary veins into the systemic venous system. It is extremely rare as an isolated anomaly. We report the case of a middle-aged woman with isolated drainage of an enormously enlarged right lower pulmonary vein into the right atrium with significant left-to-right shunt, severe right ventricular enlargement, and pulmonary hypertension.


Assuntos
Átrios do Coração/anormalidades , Hipertensão Pulmonar/etiologia , Veias Pulmonares/anormalidades , Malformações Vasculares/diagnóstico por imagem , Ecocardiografia/métodos , Feminino , Átrios do Coração/diagnóstico por imagem , Humanos , Hipertensão Pulmonar/diagnóstico por imagem , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Veias Pulmonares/diagnóstico por imagem , Malformações Vasculares/complicações
10.
Int Heart J ; 60(1): 12-18, 2019 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-30518714

RESUMO

Emery-Dreifuss muscular dystrophy (EDMD) is a group of hereditary muscular dystrophy syndrome caused by deficiency of genes encoding nuclear envelope proteins. Patients having EDMD show the triad of muscle dystrophy, joint contracture, and cardiac disease. In almost all patients, cardiac involvement is prevalent and is the most severe aspect of EDMD. Cardiac disease is predominantly shown by conduction defects, atrial fibrillation/flutter, and atrial standstill. Sudden death and heart failure because of left ventricular dysfunction are important causes of mortality, particularly in those patients that have the LMNA mutation. Medical treatment of EDMD is limited to addressing symptoms and ambulation support; moreover, pacemaker implantation is necessary when there are severe conduction defects and bradycardia occurs. Note that automated defibrillation devices may be considered for those patients who have a high risk of sudden death, rate, or rhythm control. Also, anticoagulation should be initiated in those patients who have atrial fibrillation/flutter. Thus, for optimal management, a multidisciplinary approach is required.


Assuntos
Fibrilação Atrial/terapia , Distrofia Muscular de Emery-Dreifuss/genética , Disfunção Ventricular Esquerda/mortalidade , Anormalidades Múltiplas/epidemiologia , Anticoagulantes/uso terapêutico , Fibrilação Atrial/complicações , Fibrilação Atrial/tratamento farmacológico , Fibrilação Atrial/epidemiologia , Cardiomiopatias/fisiopatologia , Fissura Palatina/complicações , Fissura Palatina/epidemiologia , Contratura/complicações , Contratura/epidemiologia , Morte Súbita/epidemiologia , Feminino , Doenças Genéticas Inatas/fisiopatologia , Átrios do Coração/anormalidades , Átrios do Coração/fisiopatologia , Bloqueio Cardíaco/fisiopatologia , Cardiopatias/complicações , Cardiopatias/epidemiologia , Humanos , Hidrocefalia/complicações , Hidrocefalia/epidemiologia , Comunicação Interdisciplinar , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/epidemiologia , Masculino , Distrofias Musculares/complicações , Distrofias Musculares/epidemiologia , Distrofia Muscular de Emery-Dreifuss/complicações , Distrofia Muscular de Emery-Dreifuss/diagnóstico , Distrofia Muscular de Emery-Dreifuss/terapia , Marca-Passo Artificial/normas , Disfunção Ventricular Esquerda/epidemiologia
11.
Ann Thorac Surg ; 107(5): e311-e312, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30359594

RESUMO

Giant left atrium (GLA) is a rare entity in the pediatric population. GLA carries a significant mortality risk; once its existence is established, it needs to be evaluated with intention to treat. We report a 14-month-old boy with GLA presenting with symptoms of cough and stridor because of compressed airways. The child underwent successful surgical resection for the same.


Assuntos
Cardiomegalia/complicações , Cardiomegalia/cirurgia , Átrios do Coração/anormalidades , Transtornos Respiratórios/etiologia , Cardiomegalia/diagnóstico por imagem , Humanos , Lactente , Masculino , Transtornos Respiratórios/diagnóstico por imagem
12.
Gen Thorac Cardiovasc Surg ; 67(8): 723-725, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30293219

RESUMO

Persistent left superior vena cava (PLSVC) is the most common anomalous thoracic venous drainage. A PLSVC usually drains into the right atrium through a dilated coronary sinus. It is rare that a PLSVC flows directly into the left atrium, and even rarer that it connects to the left upper pulmonary vein (LUPV). We report a case, wherein the LUPV connected to both the PLSVC and the left atrium.


Assuntos
Átrios do Coração/anormalidades , Cardiopatias Congênitas/cirurgia , Neoplasias Pulmonares/cirurgia , Veias Pulmonares/anormalidades , Malformações Vasculares/cirurgia , Veia Cava Superior/anormalidades , Idoso , Tubos Torácicos , Drenagem , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Excisão de Linfonodo , Masculino , Cirurgia Torácica Vídeoassistida/métodos , Tomografia Computadorizada por Raios X
13.
Arch Cardiovasc Dis ; 112(2): 135-143, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30181052

RESUMO

Left superior vena cava draining into the left atrium in the absence of coronary sinus is an anomaly that can appear in heterotaxy syndrome and unroofed coronary sinus syndrome. Regardless of the origin of these syndromes, biventricular repair can be done through rerouting by intracardiac procedures or through disconnection-reconnection of the left superior vena cava to the right atrium or right superior vena cava by extracardiac procedures. Different techniques can be used for this purpose, each of which has its own advantages and limitations. Therefore, appropriate selection is necessary to obtain the best results for each patient, and many factors, such as patient anatomy, age, associated cardiomyopathies, etc., have to be considered. In this review, we focus on heterotaxy and unroofed coronary sinus syndromes, associated cardiomyopathies, the state-of-the-art in their surgical treatment and our results in a sample of 10 patients. Our experience highlights the importance of accurate diagnosis and specific selection of surgical technique for the management of biventricular repair in patients with left superior vena cava draining into the left atrium in the absence of coronary sinus.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Átrios do Coração/cirurgia , Síndrome de Heterotaxia/cirurgia , Veia Cava Superior/cirurgia , Adolescente , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Criança , Pré-Escolar , Angiografia Coronária , Seio Coronário/anormalidades , Ecocardiografia Doppler em Cores , Feminino , Átrios do Coração/anormalidades , Átrios do Coração/diagnóstico por imagem , Síndrome de Heterotaxia/diagnóstico por imagem , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Veia Cava Superior/anormalidades , Veia Cava Superior/diagnóstico por imagem
14.
Echocardiography ; 36(4): 651-653, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30592781

RESUMO

As part of an evaluation for source of embolism, transthoracic echocardiography with peripheral saline contrast injection during normal respirations and also Valsalva release is routinely performed to evaluate for an atrial level shunt. We present a preliminary observation of addition of a modified Müller's maneuver early during the Valsalva release. The Müller's maneuver has been described to occur with sleep apnea and will increase right-to-left shunting through a PFO. Of 34 patients, 24 were negative for a right-to-left shunt with normal respiration or Valsalva release. Of these 24 patients, 8 were then positive for a shunt by addition of a modified Müller's maneuver. One additional patient could not perform the modified Müller's maneuver. This preliminary observation suggests that in patients referred to an echocardiography laboratory for evaluation of source of embolism, adding the modified Müller's maneuver to those negative for shunting during normal respirations and Valsalva release may yield an increase in right-to-left atrial level shunt detection.


Assuntos
Ecocardiografia/métodos , Comunicação Interatrial/diagnóstico por imagem , Comunicação Interatrial/fisiopatologia , Aumento da Imagem/métodos , Solução Salina , Manobra de Valsalva/fisiologia , Adulto , Meios de Contraste , Feminino , Átrios do Coração/anormalidades , Átrios do Coração/diagnóstico por imagem , Átrios do Coração/fisiopatologia , Humanos , Masculino
15.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 48(4): 446-452, 2019 Jun 25.
Artigo em Chinês | MEDLINE | ID: mdl-31901051

RESUMO

OBJECTIVE: To evaluate the application of ultrasonography in prenatal diagnosis of left inferior vena cava and double inferior vena cava in fetus. METHODS: The clinical data and ultrasonographic findings of the fetuses with left inferior vena cava (18 cases) or double inferior vena cava (16 cases) were retrospectively analyzed. RESULTS: The ultrasonographic images of left inferior vena cava showed that in the transverse view of the fetal upper abdomen the inferior vena cava and abdominal aorta were in the normal position; below the level of the hilum, the inferior vena cava was located behind the left side of the abdominal aorta; at the level of the hilum, it crossed the front of the abdominal aorta and run diagonally to the upper right, forming the right inferior vena cava and finally entered into the right atrium. The ultrasonographic images of double inferior vena cava showed that in the transverse view of the fetal lower abdomen, in front of spine there were three transections of blood vessels; in coronal plane of abdomen, the veins run on both sides of the abdominal aorta and entered to the iliac vein of the same side. In 34 cases of abnormal inferior vena cava, there were 17 cases complicated with other system abnormalities, including 13 cases of cardiac anomalies. CONCLUSIONS: The left inferior vena cava and double inferior vena cava have characteristic imaging findings, and prenatal diagnosis can be made with ultrasonography. This type of congenital deformity is frequently complicated with other system abnormalities, which should be excluded in fetus, especially for heart system.


Assuntos
Ultrassonografia , Veia Cava Inferior , Feminino , Feto/anormalidades , Átrios do Coração/anormalidades , Humanos , Gravidez , Estudos Retrospectivos , Veia Cava Inferior/anormalidades , Veia Cava Inferior/diagnóstico por imagem
16.
BMC Cardiovasc Disord ; 18(1): 210, 2018 11 07.
Artigo em Inglês | MEDLINE | ID: mdl-30404609

RESUMO

BACKGROUND: The crista terminalis is a variation of normal anatomical structure within the right atrium which may be misdiagnosed with an abnormal atrial mass normally visualized in the standard views on the transthoracic echocardiogram. CASE PRESENTATION: In this case presentation, we demonstrated a rare case report describing the accidental discovery of a right atrial mass-like structure in a 54-year old Asian man without physical discomfort during an echocardiographic examination. These findings naturally caused some concern as the differential diagnosis such as right atrial myxoma or thrombus and further examination were organized. The subsequent positron emission tomography/magnetic resonance imaging (PET/MRI) differentiated a true right atrial mass from a strip extending into the atrium in accordance with prominent crista terminalis. CONCLUSION: A preferable understanding of the complex anatomy and PET/MRI appearance of a prominent crista terminalis will minimize the misdiagnosis of this structure and avoiding unnecessary anxiety and more invasive examinations.


Assuntos
Átrios do Coração/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Neoplasias Cardíacas/diagnóstico por imagem , Imagem por Ressonância Magnética , Mixoma/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Trombose/diagnóstico por imagem , Diagnóstico Diferencial , Ecocardiografia , Átrios do Coração/anormalidades , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Valor Preditivo dos Testes
17.
Medicine (Baltimore) ; 97(46): e12983, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30431572

RESUMO

Common atrium (CA) is a rare complex congenital heart disease. The studies of CA are mostly case reports, while few have been done regarding its morphological characteristics. We aimed to determine CA characteristics and diagnostic accuracy in assessing associated malformations in these patients with low-dose dual-source computed tomography (DSCT).Twenty-one pediatric and adolescent CA patients underwent low-dose DSCT. Different ventricular types and associated malformations were assessed. The diagnostic accuracy of DSCT and transthoracic echocardiography (TTE) in evaluating associated malformations were assessed. The effective doses of DSCT were calculated.Patients (n = 21) were divided into CA with biventricular physiology (n = 7) and CA with single ventricle (SV) (n = 14). There were 3 types of SV morphology: single left ventricle (n = 5), single right ventricle (n = 6), and undifferentiated ventricle (n = 3). In all, 22 associated malformations were seen in CA and 56 in CA with SV. DSCT was superior to TTE for detecting intracardiac anomalies (sensitivity: DSCT, 92.31% vs TTE, 76.92%), great vessels anomalies (sensitivity: DSCT, 100.00% vs TTE, 77.50%), and of collateral vessels (sensitivity: DSCT, 100% vs TTE, 20.00%). The estimated mean effective dose was 0.95 ±â€Š0.44 mSv (<1 mSv).This study indicated that low-dose DSCT is an ideal alternative for pediatric and adolescent patients with CA, providing morphological details of CA and associated malformations with high accuracy.


Assuntos
Átrios do Coração/anormalidades , Átrios do Coração/diagnóstico por imagem , Ventrículos do Coração/anormalidades , Ventrículos do Coração/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adolescente , Criança , Pré-Escolar , Ecocardiografia/métodos , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
18.
Am J Med Genet A ; 176(12): 2760-2767, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30289599

RESUMO

Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdeveloped and malformed structures of the right heart. Familial recurrence of HRHS indicates genetic factors contribute to its etiology. Our study investigates the presence of copy number variants (CNVs) in HRHS cases. We genotyped 42 HRHS cases identified from live births throughout California (2003-2010) using the Illumina HumanOmni2.5-8 array. We identified 14 candidate CNVs in 14 HRHS cases (33%) based on the genes included in the CNVs and their functions. Duplications overlapping part of ERBB4 were identified in two unrelated cases. ERBB4 is a neuregulin receptor with a pivotal role in cardiomyocyte differentiation and heart development. We also described a 7.5 Mb duplication at 16q11-12. Multiple genes in the duplicated region have previously been linked to heart defects and cardiac development, including RPGRIP1L, RBL2, SALL1, and MYLK3. Of the 14 validated CNVs, we identified four CNVs in close proximity to genes linked to the Wnt signaling pathway. This study expands on our previous work supporting the role of genetics in HRHS. We identified CNVs affecting crucial genes and signaling pathways involved in right heart development. ERBB4 and duplication of the 16q11-12 region are important areas for future investigation.


Assuntos
Variações do Número de Cópias de DNA , Átrios do Coração/anormalidades , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Ventrículos do Coração/anormalidades , Adulto , California/epidemiologia , Aberrações Cromossômicas , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Cardiopatias Congênitas/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Vigilância da População , Gravidez , Resultado da Gravidez , Fatores de Risco , Adulto Jovem
20.
J Coll Physicians Surg Pak ; 28(9): S154-S156, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30173681

RESUMO

The arterial switch operation is considered as standard therapy for isolated D-transposition of the great arteries. However, in under-developed countries, patients still present with D-transposition of the great arteries beyond the neonatal age redering them unsuitable for anatomical repair. These children are often offered physiological repair, i.e. Senning or Mustard procedure. We describe our experience of a successful Senning procredure in a 4.6-year girl, who had atrial and visceral situs inversus totalis, dextrocardia and d-transposition of the great arteries. To our knowledge, this is the first reported case of this operation in a patient with such unique anatomy.


Assuntos
Transposição das Grandes Artérias/métodos , Dextrocardia/cirurgia , Átrios do Coração/anormalidades , Transposição dos Grandes Vasos/cirurgia , Pré-Escolar , Dextrocardia/complicações , Feminino , Humanos , Situs Inversus/complicações , Transposição dos Grandes Vasos/complicações , Resultado do Tratamento
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