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1.
Evol Dev ; 22(3): 241-256, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31597012

RESUMO

The atrial septum enables efficient oxygen transport by separating the systemic and pulmonary venous blood returning to the heart. Only in placental mammals will the atrial septum form by the coming-together of the septum primum and the septum secundum. In up to one of four placental mammals, this complex morphogenesis is incomplete and yields patent foramen ovale. The incidence of incomplete atrial septum is unknown for groups with the septum primum only, such as birds and reptiles. We found a low incidence of incomplete atrial septum in 11 species of bird (0% of specimens) and 13 species of reptiles (3% of specimens). In reptiles, there was a trabecular interface between the atrial septum and the atrial epicardium which was without a clear boundary between left and right atrial cavities. In developing reptiles (four squamates and one crocodylian), the septum primum initiated as a sheet that acquired perforations and the trabecular interface developed late. We conclude that atrial septation from the septum primum only results in a low incidence of incompleteness. In reptiles, the atrial septum and atrial wall develop a trabecular interface, but previous studies on atrial hemodynamics suggest this interface has a very limited capacity for shunting.


Assuntos
Septo Interatrial/patologia , Aves/anormalidades , Comunicação Interatrial/epidemiologia , Répteis/anormalidades , Animais , Septo Interatrial/embriologia , Septo Interatrial/crescimento & desenvolvimento , Comunicação Interatrial/etiologia , Incidência
2.
Int Heart J ; 61(3): 620-623, 2020 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-32418968

RESUMO

In Ebstein's anomaly, percutaneous atrial septal defect (ASD) closure for the treatment of hypoxemia due to a right-to-left interatrial shunt remains controversial. We report the case of a 40-year-old woman with Ebstein's anomaly who developed cyanosis and shortness of breath on exercise. Her symptoms improved after percutaneous ASD closure and her clinical course has been good during follow-up. The balloon ASD occlusion test, combined with dobutamine stimulation before the procedure, is useful to confirm treatment indication. A prior electrophysiological evaluation is also important because Ebstein's anomaly is often complicated by atrioventricular recurrent tachycardia.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Anomalia de Ebstein/cirurgia , Comunicação Interatrial/cirurgia , Hipóxia/cirurgia , Adulto , Anomalia de Ebstein/complicações , Anomalia de Ebstein/diagnóstico por imagem , Ecocardiografia , Feminino , Comunicação Interatrial/diagnóstico por imagem , Comunicação Interatrial/etiologia , Humanos , Hipóxia/etiologia , Procedimentos Cirúrgicos Minimamente Invasivos , Dispositivo para Oclusão Septal
3.
Heart Vessels ; 33(9): 1060-1067, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29551001

RESUMO

Persistent iatrogenic atrial septal defects (iASDs) can be observed after intervention requiring a left atria (LA) access, including pulmonary vein isolation (PVI) of atrial fibrillation (AF). We investigated the incidence of iASDs post-second-generation cryoballoon ablation and the pre-procedural predictors. Eighty-three paroxysmal AF patients underwent PVI using second-generation cryoballoons. The LA was accessed with single 15-Fr steerable sheaths following a radiofrequency transseptal puncture, and the iASD was evaluated with transthoracic echocardiography (TTE), a median of 9.3 (7.1-13.3) months post-procedure. All patients underwent pre-procedural contrast-enhanced multi-detector computed tomography (CT) to evaluate the LA and PV anatomy. iASDs were detected by TTE in 7 (8.4%) patients, a median of 15.5 (6.8-17.3) months post-procedure. Patients with iASDs had significantly larger LA volumes and smaller atrial septal angles, defined as the angle between the atrial septum and sagittal line on the horizontal section at the height of the fossa ovalis, which could be the transseptal puncture site measured on CT, and more likely hypertension than those without. Multivariate analyses revealed that the atrial septal angle was the sole predictor of iASDs [odds ratio 0.764, 95% confidence interval (CI) 0.624-0.935, p = 0.009], and the optimal cut-off value was 57.5° (sensitivity 85.7%, specificity 88.2%, 95% CI 0.873-0.995, p < 0.0001). Patients with iASDs were asymptomatic and had no adverse clinical events during a 17.7 (14.4-25.8) month median follow-up. iASDs were still detectable in 8.4% of patients a median of 15.5 months after the second-generation CB ablation, and the atrial septal angle might aid in predicting persistent iASDs.


Assuntos
Fibrilação Atrial/cirurgia , Septo Interatrial/lesões , Criocirurgia/efeitos adversos , Ecocardiografia Transesofagiana/métodos , Comunicação Interatrial/etiologia , Complicações Pós-Operatórias , Fibrilação Atrial/fisiopatologia , Septo Interatrial/diagnóstico por imagem , Criocirurgia/instrumentação , Desenho de Equipamento , Feminino , Comunicação Interatrial/diagnóstico , Humanos , Doença Iatrogênica , Incidência , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada Multidetectores
4.
Echocardiography ; 32(3): 592-4, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25323313

RESUMO

Cardiac septal defects are known complications to blunt chest trauma. The incidence of a traumatic isolated atrial septal defect is unknown and the concurrent occurrence of nonlethal ventricular and atrial septal defects has not been reported. A healthy male sustained violent blunt chest trauma resulting in traumatic cardiac septal disruption in the atrium and ventricle. The defects were detected by echocardiography within 14 hours of the accident. The extent of damage was confirmed at the time of surgical repair. The patient recovered uneventfully. The diagnosis and management of concurrent ASD and VSD is similar to single septal injury.


Assuntos
Comunicação Interatrial/diagnóstico por imagem , Comunicação Interventricular/diagnóstico por imagem , Traumatismo Múltiplo/diagnóstico por imagem , Traumatismos Torácicos/diagnóstico por imagem , Ferimentos não Penetrantes/diagnóstico por imagem , Diagnóstico Diferencial , Ecocardiografia/métodos , Comunicação Interatrial/etiologia , Comunicação Interventricular/etiologia , Humanos , Masculino , Traumatismos Torácicos/complicações , Ferimentos não Penetrantes/complicações , Adulto Jovem
5.
Catheter Cardiovasc Interv ; 84(3): 494-6, 2014 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-24399577

RESUMO

Iatrogenic erosion of the septum primum after foramen ovale closure is an anecdotal event. We report the case of a 39-year-old woman admitted to our institution for multifocal cryptogenic cerebral ischemia and a patent foramen ovale (PFO) associated with an aneurysm of the septum primum. The patient underwent percutaneous closure of the PFO with an Amplatzer PFO Occluder device. At the 6-months follow up, the device was in the right position, but a jagged defect of the septum primum and evidence of significant left-to-right shunting was detected. The atrial septal defect was then repaired by a surgical approach. Although this event is not life-threatening, it should be considered as a therapeutic pitfall, resulting in a risk of paradoxical embolism recurrences and long-term hemodynamic impairment. © 2013 Wiley Periodicals, Inc.


Assuntos
Cateterismo Cardíaco/métodos , Forame Oval Patente/cirurgia , Comunicação Interatrial/etiologia , Doença Iatrogênica , Dispositivo para Oclusão Septal/efeitos adversos , Adulto , Septo Interatrial , Ecocardiografia Transesofagiana , Feminino , Forame Oval Patente/diagnóstico por imagem , Comunicação Interatrial/diagnóstico , Humanos
7.
Cent Eur J Public Health ; 22(1): 42-7, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24844106

RESUMO

The aim of this study was to assess the risk factors in the origin of lethal or surgically corrected isolated atrial septal defect secundum. The population-based Hungarian Case-Control Surveillance of Congenital Abnormalities (conducted between 1980 and 1996) comprised 472 atrial septal defect secundum cases, 678 matched controls and 38,151 available controls without any defects; in addition, 21,022 malformed controls with other isolated defects. Medically recorded chronic disorders in the prenatal maternity logbook were evaluated, while acute maternal diseases, drug treatments and pregnancy supplements were analyzed on the basis of both prospective medically recorded data and retrospective maternal information. Acute pelvic inflammatory disease, paroxysmal supraventricular tachycardia and phenolphthalein treatment due to severe constipation of mothers were shown to contribute to the development of atrial septal defect secundum of their children. High doses of folic acid in early pregnancy had positively influenced a minor part of isolated atrial septal defect secundum in foetuses. In conclusion, the obvious genetic predisposition for atrial septal defect secundum is connected with maternal paroxysmal supraventricular tachycardia and triggered by acute pelvic inflammatory diseases and phenolphthalein treatment, while the manifestation of atrial septal defect secundum can be reduced by high doses of folic acid supplementation in early pregnancy.


Assuntos
Ácido Fólico/administração & dosagem , Comunicação Interatrial/etiologia , Comunicação Interatrial/prevenção & controle , Complicações na Gravidez , Viés , Estudos de Casos e Controles , Feminino , Humanos , Hungria , Recém-Nascido , Rememoração Mental , Mães , Doença Inflamatória Pélvica/complicações , Fenolftaleína/efeitos adversos , Vigilância da População , Gravidez , Fatores de Risco , Autorrelato , Taquicardia Paroxística/complicações , Taquicardia Supraventricular/complicações
8.
Biochim Biophys Acta ; 1822(11): 1727-34, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22885111

RESUMO

The RecQ family of helicases has been shown to play an important role in maintaining genomic stability. In humans, this family has five members and mutations in three of these helicases, BLM, WRN and RECQL4, are associated with disease. Alterations in RECQL4 are associated with three diseases, Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome. One of the more common mutations found in RECQL4 is the RAPADILINO mutation, c.1390+2delT which is a splice-site mutation leading to an in-frame skipping of exon 7 resulting in 44 amino acids being deleted from the protein (p.Ala420-Ala463del). In order to characterize the RAPADILINO RECQL4 mutant protein, it was expressed in bacteria and purified using an established protocol. Strand annealing, helicase, and ATPase assays were conducted to characterize the protein's activities relative to WT RECQL4. Here we show that strand annealing activity in the absence of ATP is unchanged from that of WT RECQL4. However, the RAPADILINO protein variant lacks helicase and ssDNA-stimulated ATPase activity. These observations help explain the underlying molecular etiology of the disease and our findings provide insight into the genotype and phenotype association among RECQL4 syndromes.


Assuntos
Nanismo , Comunicação Interatrial , Deformidades Congênitas dos Membros , Mutação/genética , Sítios de Splice de RNA/genética , RecQ Helicases/genética , Síndrome de Rothmund-Thomson , Adenosina Trifosfatases/genética , Adenosina Trifosfatases/metabolismo , Trifosfato de Adenosina/metabolismo , Canal Anal/anormalidades , Canal Anal/metabolismo , Craniossinostoses/genética , Nanismo/etiologia , Nanismo/genética , Nanismo/metabolismo , Éxons , Estudos de Associação Genética , Instabilidade Genômica , Comunicação Interatrial/etiologia , Comunicação Interatrial/genética , Comunicação Interatrial/metabolismo , Humanos , Deformidades Congênitas dos Membros/etiologia , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/metabolismo , Patela/anormalidades , Patela/metabolismo , Rádio (Anatomia)/anormalidades , Rádio (Anatomia)/metabolismo , RecQ Helicases/metabolismo , Síndrome de Rothmund-Thomson/etiologia , Síndrome de Rothmund-Thomson/genética , Síndrome de Rothmund-Thomson/metabolismo
9.
Am J Med Genet A ; 161A(7): 1797-802, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23713051

RESUMO

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability.


Assuntos
Anormalidades Múltiplas/genética , Doenças Mamárias/genética , Deleção de Genes , Cardiopatias Congênitas/genética , Comunicação Interatrial/genética , Deformidades Congênitas das Extremidades Inferiores/genética , Proteínas com Domínio T/genética , Ulna/anormalidades , Deformidades Congênitas das Extremidades Superiores/genética , Anormalidades Múltiplas/etiologia , Adulto , Doenças Mamárias/etiologia , Feminino , Cardiopatias Congênitas/etiologia , Comunicação Interatrial/etiologia , Humanos , Deformidades Congênitas das Extremidades Inferiores/etiologia , Fenótipo , Gravidez , Deformidades Congênitas das Extremidades Superiores/etiologia , Adulto Jovem
10.
Birth Defects Res A Clin Mol Teratol ; 97(1): 28-35, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23281074

RESUMO

BACKGROUND: Few epidemiologic studies have investigated the use of venlafaxine (Effexor XR capsules, Product Monograph, Wyeth, Montreal, Canada), an antidepressant used to treat major depression and anxiety disorders in adults, during pregnancy. Our objective was to determine whether use of venlafaxine during pregnancy is associated with specific birth defects. METHODS: We used data from the National Birth Defects Prevention Study (NBDPS), a population-based, case-control study in the United States. Our analysis included mothers with pregnancies affected by one of 30 selected birth defects (cases) and babies without birth defects (controls) with estimated dates of delivery between 1997 and 2007. Exposure was any reported use of venlafaxine from 1 month preconception through the third month of pregnancy. We calculated adjusted odds ratios (aORs) and 95% Fisher Exact confidence intervals (CIs) for 24 birth defect groups for which at least 400 case mothers were interviewed. Our adjusted analyses controlled for maternal age and race/ethnicity. RESULTS: Among the 27,045 NBDPS participants who met inclusion criteria, 0.17% (14/8002) of control mothers and 0.40% (77/19,043) of case mothers reported any use of venlafaxine from 1 month preconception through the third month of pregnancy. Statistically significant associations were found for anencephaly, atrial septal defect (ASD) secundum, or ASD not otherwise specified, coarctation of the aorta, cleft palate, and gastroschisis. CONCLUSIONS: Our data suggest associations between periconceptional use of venlafaxine and some birth defects. However, sample sizes were small, CIs were wide, and additional studies are needed to confirm these results.


Assuntos
Anormalidades Induzidas por Medicamentos/etiologia , Antidepressivos de Segunda Geração/efeitos adversos , Cicloexanóis/efeitos adversos , Exposição Materna/efeitos adversos , Anormalidades Induzidas por Medicamentos/epidemiologia , Adulto , Anencefalia/epidemiologia , Anencefalia/etiologia , Coartação Aórtica/epidemiologia , Coartação Aórtica/etiologia , Fissura Palatina/epidemiologia , Fissura Palatina/etiologia , Feminino , Gastrosquise/epidemiologia , Gastrosquise/etiologia , Comunicação Interatrial/epidemiologia , Comunicação Interatrial/etiologia , Humanos , Razão de Chances , Gravidez , Estados Unidos/epidemiologia , Cloridrato de Venlafaxina
11.
Acta Obstet Gynecol Scand ; 92(7): 824-9, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23215854

RESUMO

OBJECTIVES: In general, epidemiological studies have evaluated cases with congenital cardiovascular abnormalities together. The aim of this study is to describe the birth outcomes of cases with isolated/single atrial septal defect type II (ASD-II, i.e. only a fossa ovalis defect) after surgical correction or lethal outcome in the light of maternal sociodemographic data. DESIGN: Comparison of birth outcomes and maternal characteristics of cases with ASD-II and controls without defect. SETTING: The population-based Hungarian Case-Control Surveillance of Congenital Abnormalities. POPULATION: Hungarian newborn infants with or without ASD-II. METHODS: Medically recorded birth outcomes, maternal age and birth order were evaluated. Marital and employment status was based on maternal information. The lifestyle factors were analyzed in a subsample of mothers visited at home based on a personal interview with mothers and their close relatives, and the family consensus was accepted. MAIN OUTCOME MEASURES: Mean gestational age at delivery and birthweight, rate of preterm birth and low birthweight, maternal age, birth order, marital and employment status. RESULTS: The evaluation of 471 cases with ASD-II and 38,151 controls without any defects showed a female excess in cases with ASD-II, having shorter gestational age and lower mean birthweight, and thus a higher rate of preterm births and low birthweight. CONCLUSIONS: Intrauterine growth restriction and shorter gestational age were found in cases with ASD-II, particularly in female children. These factors may have a general developmental process in which there was not closure of the foramen ovale, thus echocardiographic screening of these babies might be of value.


Assuntos
Comunicação Interatrial , Ordem de Nascimento , Peso ao Nascer , Estudos de Casos e Controles , Feminino , Idade Gestacional , Comunicação Interatrial/etiologia , Comunicação Interatrial/mortalidade , Comunicação Interatrial/cirurgia , Humanos , Hungria , Estilo de Vida , Masculino , Idade Materna , Análise Multivariada , Gravidez , Nascimento Prematuro , Sistema de Registros , Análise de Regressão , Fatores de Risco , Fatores Sexuais , Fatores Socioeconômicos
12.
Echocardiography ; 30(2): 127-30, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23231417

RESUMO

BACKGROUND: The incidence of atrial septal defect (ASD) after percutaneous transvenous mitral commissurotomy (PTMC) ranges from 15.2% to 92% in small studies. AIM: To estimate the incidence of atrial septal defect (ASD) following PTMC and to determine the factors contributing to its development. METHODS: We studied 209 patients with mitral stenosis (MS) undergoing PTMC. Transesophageal echocardiography (TEE) with color Doppler examination was performed to detect ASD. RESULTS: TEE demonstrated ASD in 139 (66.5%) of 209 patients. The mean diameter of the interatrial septal defect detected by TEE was 4.47 ± 1.7 mm. The most common site of septal puncture was the inferior vena caval side of the interatrial septum followed by fossa ovalis. Color flow imaging across the defect showed left to right shunting in all the patients (100%). We examined the relationship of age, Wilkins score, left atrial volumes, the mitral valve orifice area, mitral valve gradient, and the degree of mitral and tricuspid regurgitation between the group that developed ASD and the group without ASD and found that none of these factors predicted the development of ASD. A residual ASD was seen in 11 patients (8.7%) at 6-month follow-up. CONCLUSION: Incidence of residual atrial septal defect immediately following PTMC by TEE color flow Doppler imaging is 66.5%. Surrogate markers of elevated left atrial pressures do not determine the development of atrial septal defect after PTMC. The majority of the defects close spontaneously and a residual defect is observed in 8.7% patients at 6 months.


Assuntos
Cateterismo Cardíaco/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Cateterismo Venoso Central/efeitos adversos , Ecocardiografia Doppler/métodos , Ecocardiografia Transesofagiana , Comunicação Interatrial/epidemiologia , Estenose da Valva Mitral/cirurgia , Adolescente , Adulto , Cateterismo Cardíaco/métodos , Procedimentos Cirúrgicos Cardíacos/métodos , Feminino , Seguimentos , Comunicação Interatrial/diagnóstico por imagem , Comunicação Interatrial/etiologia , Humanos , Incidência , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Estenose da Valva Mitral/diagnóstico por imagem , Complicações Pós-Operatórias , Estudos Retrospectivos , Adulto Jovem
13.
Differentiation ; 84(1): 117-30, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22709652

RESUMO

Partitioning of the four-chambered heart requires the proper formation, interaction and fusion of several mesenchymal tissues derived from different precursor populations that together form the atrioventricular mesenchymal complex. This includes the major endocardial cushions and the mesenchymal cap of the septum primum, which are of endocardial origin, and the dorsal mesenchymal protrusion (DMP), which is derived from the Second Heart Field. Failure of these structures to develop and/or fully mature results in atrial septal defects (ASDs) and atrioventricular septal defects (AVSD). AVSDs are congenital malformations in which the atria are permitted to communicate due to defective septation between the inferior margin of the septum primum and the atrial surface of the common atrioventricular valve. The clinical presentation of AVSDs is variable and depends on both the size and/or type of defect; less severe defects may be asymptomatic while the most severe defect, if untreated, results in infantile heart failure. For many years, maldevelopment of the endocardial cushions was thought to be the sole etiology of AVSDs. More recent work, however, has demonstrated that perturbation of DMP development also results in AVSD. Here, we discuss in detail the formation of the DMP, its contribution to cardiac septation and describe the morphological features as well as potential etiologies of ASDs and AVSDs.


Assuntos
Comunicação Atrioventricular/etiologia , Coxins Endocárdicos/embriologia , Comunicação Interatrial/etiologia , Comunicação Interventricular/etiologia , Mesoderma/embriologia , Animais , Comunicação Atrioventricular/embriologia , Coxins Endocárdicos/patologia , Comunicação Interatrial/embriologia , Comunicação Interventricular/embriologia , Humanos , Mesoderma/patologia , Camundongos
14.
J Card Surg ; 28(1): 19-22, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23231749

RESUMO

Unroofed coronary sinus (UCS) is a rare cardiac anomaly that results in communication between the coronary sinus and the left atrium. We described an unusual presentation of UCS in a 48-year-old female that was not corrected during an initial secundum ASD repair 22 years ago.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Seio Coronário/anormalidades , Seio Coronário/cirurgia , Comunicação Interatrial/cirurgia , Diagnóstico por Imagem , Feminino , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/etiologia , Humanos , Pessoa de Meia-Idade , Insuficiência da Valva Mitral/cirurgia , Esternotomia , Fatores de Tempo , Resultado do Tratamento , Insuficiência da Valva Tricúspide/cirurgia
15.
Pediatr Cardiol ; 34(5): 1258-60, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22639005

RESUMO

Gerbode defect, a left ventricle to right atrium (LV-RA) communication, is usually congenital. Acquired LV-RA communications are rare and only few case reports of successful trans-catheter closure have been published though none of them were on infants. We hereby report a rare case of LV to RA shunt acquired following surgical repair of Tetralogy of Fallot (TOF). The defect was successfully closed percutaneously with an Amplatzer duct occluder. This is the first reported case of device closure of an acquired Gerbode defect in an infant.


Assuntos
Cateterismo Cardíaco , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Comunicação Interatrial/cirurgia , Comunicação Interventricular/cirurgia , Dispositivo para Oclusão Septal , Tetralogia de Fallot/cirurgia , Ecocardiografia , Comunicação Interatrial/diagnóstico por imagem , Comunicação Interatrial/etiologia , Comunicação Interventricular/diagnóstico por imagem , Comunicação Interventricular/etiologia , Humanos , Doença Iatrogênica , Recém-Nascido
16.
Ann Plast Surg ; 70(2): 240-5, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22395051

RESUMO

Protein regulation is the function of several pathways and enzyme systems in the human body. One of these pathways is the ubiquitin/SUMO pathway. The author has noted that almost all known syndromes of radial ray deficiency are related to this pathway. In this article, these syndromes are reviewed with special attention to their relationship with the ubiquitin/SUMO pathway. This opens a new insight into the pathogenesis of radial ray deficiency syndromes.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/metabolismo , Comunicação Interatrial/genética , Comunicação Interatrial/metabolismo , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/metabolismo , Proteínas Modificadoras Pequenas Relacionadas à Ubiquitina/metabolismo , Transposição dos Grandes Vasos/genética , Transposição dos Grandes Vasos/metabolismo , Ubiquitina/metabolismo , Doenças Genéticas Ligadas ao Cromossomo X/etiologia , Comunicação Interatrial/etiologia , Humanos , Deformidades Congênitas dos Membros/etiologia , Rádio (Anatomia)/anormalidades , Rádio (Anatomia)/metabolismo , Síndrome , Polegar/anormalidades , Transposição dos Grandes Vasos/etiologia
17.
Med Arch ; 67(2): 141-2, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24341064

RESUMO

INTRODUCTION: Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. The etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, anomalies of the extremities etc. Associated anomalies occur in the auditory system, neural axis, cardiovascular system, and the musculoskeletal system. RESULTS AND DISCUSSION: Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger's series, with 4 of these individuals requiring corrective surgery. In our case we have had registered a nonrestrictive atrial septal defect and corrective surgical intervention at age 18 months in the Santa Rosa Children's Hospital (USA) has been done successfully. Careful examinations of specialist exclude anomalies in other organs and systems. Radiographs and MRI of the thoracic and lumbosacral spine are obtained and other anomalies have been excluded.


Assuntos
Vértebras Cervicais , Comunicação Interatrial , Síndrome de Klippel-Feil/diagnóstico , Vértebras Cervicais/anormalidades , Vértebras Cervicais/diagnóstico por imagem , Pré-Escolar , Ecocardiografia Doppler em Cores , Eletrocardiografia , Feminino , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/etiologia , Humanos , Imageamento por Ressonância Magnética , Radiografia
18.
Kardiol Pol ; 81(3): 259-264, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36594530

RESUMO

BACKGROUND: Transcatheter closure of atrial septal defect (ASD) has become the treatment of choice for most patients. About 5% of them suffer from transient headache episodes (THE) after the procedure, whose etiology is unclear. AIMS: To evaluate risk factors for THE occurrence after transcatheter closure of ASD in the pediatric population. METHODS: Eight hundred and forty patients, after transcatheter ASD closure with nitinol devices, from a single center, were included in retrospective analysis. THE was defined as occurring up to 24 hours after the procedure. A logistic regression model including age, weight, ASD diameter, device size, presence of nitinol coating on the device, fluoroscopy time, application of balloon calibration, device oversizing, and residual shunt after 24 hours was created to evaluate risk factors for THE occurrence. RESULTS: There were 40 patients with THE (4.8%), 70% female and 30% male. The median age was 13 (7.35-16) years. In patients with headache, balloon calibration (BC) was performed more frequently (82.5% vs. 43.3%; P <0.001). The balloon waist median (interquartile range [IQR]), 19 (16-22) mm vs. 15 mm (12-18) mm (P <0.001), and device size median (IQR), 18 (13.5-22) mm vs. 14 (11-17) mm (P <0.001) were larger, and residual shunt after 24 hours (12.5% vs. 4.9%; P = 0.03) and a year (7.5 vs. 1.0%; P <0.001) were more frequent. ASD size and the prevalence of double/multiple ASD were similar in both groups. Age, BC application, no nickel release protection, duration of fluoroscopy, and device oversizing were predictors of THE (P <0.001). CONCLUSIONS: BC during percutaneous ASD closure and the lack of a protective layer against nickel release on the device are risk factors for headache occurrence in the early postprocedural period.


Assuntos
Comunicação Interatrial , Dispositivo para Oclusão Septal , Humanos , Criança , Masculino , Feminino , Adolescente , Cateterismo Cardíaco/efeitos adversos , Cateterismo Cardíaco/métodos , Estudos Retrospectivos , Comunicação Interatrial/cirurgia , Comunicação Interatrial/etiologia , Cefaleia/etiologia , Resultado do Tratamento , Ecocardiografia Transesofagiana , Dispositivo para Oclusão Septal/efeitos adversos
19.
Ann Med ; 55(1): 615-623, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-36786506

RESUMO

BACKGROUND: Transcatheter (TC) atrial septal defect (ASD) closure has been the mainstay of therapy for secundum-type ASDs for over 20 years. AIMS: This nationwide cohort evaluated the long-term outcome of transcatheter-closed ASDs. METHODS: The study enrolled every transcatheter ASD closure performed in Finland from 1999 to 2019. Five age, sex, and municipality-matched controls per ASD patient were gathered from the general population. The median follow-up period was 5.9 years (range 0-20.8). We used the hospital discharge register to gather all hospital visits and diagnoses. Closure complications and echocardiographic changes were collected from the electronic health records. RESULTS: Transcatheter ASD closure was performed in 1000 patients (68.5% females) during the study period. The median (range) age at the time of the procedure was 37.9 (1.8-87.5) years. ASD patients had an increased risk for new-onset atrial fibrillation (RR 2.45, 95% CI: 1.84-3.25), migraine (RR 3.61, 95% CI: 2.54-5.14), ischemic heart disease (RR 1.73, 95% CI: 1.23-2.45), ventricular fibrillation/tachycardia (RR 3.54 (95% CI: 1.48-8.43) and AV conduction disorder (RR 3.60, 95% CI: 1.94-6.70) compared to the control cohort. Stroke risk was not increased (RR 1.36, 95% CI: 0.91-2.03). Adverse events occurred in 6.3% (n = 63) of the patients, including four erosions and ten device embolizations. CONCLUSION: After TC closure of ASD, patients had a higher risk of new-onset atrial fibrillation and migraine than controls without ASD. As novel findings, we found an increased risk for ischemic heart disease, AV conduction disorders, and ventricular fibrillation/tachycardia.Key messagesEven though patients have an excellent overall prognosis after percutaneous ASD closure, the increased incidence of major comorbidities like atrial fibrillation and heart failure prompts more thorough lifelong follow-up.This study's novel findings revealed the increased risk for ischemic heart disease, AV conduction disorders, or ventricular tachycardia/fibrillation during the follow-up.Major complications after the closure are rare; erosion is seen in 0.4% of the patients and embolization in 1.0% of the patients.


Assuntos
Fibrilação Atrial , Comunicação Interatrial , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Masculino , Cateterismo Cardíaco/efeitos adversos , Cateterismo Cardíaco/métodos , Fibrilação Atrial/epidemiologia , Fibrilação Atrial/etiologia , Resultado do Tratamento , Fibrilação Ventricular/etiologia , Comunicação Interatrial/epidemiologia , Comunicação Interatrial/cirurgia , Comunicação Interatrial/etiologia , Estudos Retrospectivos
20.
Pediatr Cardiol ; 33(1): 83-9, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21910018

RESUMO

The authors have demonstrated that histotripsy (pulsed cavitational ultrasound) can create atrial septal defects and ventricular septal defects (VSDs) in an open-chest canine model transcutaneously through the intact chest of neonatal pigs. To assess the potential untoward effects of these applications, the clinical, systemic, and pathologic effects of histotripsy-induced intracardiac communications were analyzed. Six neonatal pigs received noninvasive ultrasound therapy to their ventricular septa, then were allowed to survive 1 month for evaluation of intermediate-term effects. The results were compared with those of six previous animals killed immediately and three others killed 2-3 days after the procedure. Brain magnetic resonance imaging (MRI) and an assessment of cardiac function were performed with long-term survivors, and pathologic specimens were obtained when the animals were killed. In all 15 animals, VSDs 2-6.5 mm wide were successfully created. No fatalities occurred, and all the animals thrived, achieving normal weight gain by the time they were killed. Brain MRI and lung pathology exhibited no evidence of thromboembolic events. No damage to intervening tissue was observed. Pathologic analysis showed demarcated damage to the ventricular septa. Flanking injury and hemorrhage observed acutely were resolved by 1 month, with tissue remodeling present. Transcutaneous histotripsy is a safe and effective technique for creating intracardiac communications noninvasively without intermediate-term untoward effects. With further refinement and development, histotripsy has the potential to become an effective tool for palliation of congenital heart disease.


Assuntos
Cardiopatias Congênitas/terapia , Comunicação Interatrial/etiologia , Comunicação Interventricular/etiologia , Terapia por Ultrassom , Animais , Modelos Animais de Doenças , Suínos , Terapia por Ultrassom/efeitos adversos
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