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1.
Bull World Health Organ ; 101(3): 202-210, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-36865598

RESUMO

Objective: To describe chest radiograph findings among children hospitalized with clinically diagnosed severe pneumonia and hypoxaemia at three tertiary facilities in Uganda. Methods: The study involved clinical and radiograph data on a random sample of 375 children aged 28 days to 12 years enrolled in the Children's Oxygen Administration Strategies Trial in 2017. Children were hospitalized with a history of respiratory illness and respiratory distress complicated by hypoxaemia, defined as a peripheral oxygen saturation (SpO2) < 92%. Radiologists blinded to clinical findings interpreted chest radiographs using standardized World Health Organization method for paediatric chest radiograph reporting. We report clinical and chest radiograph findings using descriptive statistics. Findings: Overall, 45.9% (172/375) of children had radiological pneumonia, 36.3% (136/375) had a normal chest radiograph and 32.8% (123/375) had other radiograph abnormalities, with or without pneumonia. In addition, 28.3% (106/375) had a cardiovascular abnormality, including 14.9% (56/375) with both pneumonia and another abnormality. There was no significant difference in the prevalence of radiological pneumonia or of cardiovascular abnormalities or in 28-day mortality between children with severe hypoxaemia (SpO2: < 80%) and those with mild hypoxaemia (SpO2: 80 to < 92%). Conclusion: Cardiovascular abnormalities were relatively common among children hospitalized with severe pneumonia in Uganda. The standard clinical criteria used to identify pneumonia among children in resource-poor settings were sensitive but lacked specificity. Chest radiographs should be performed routinely for all children with clinical signs of severe pneumonia because it provides useful information on both cardiovascular and respiratory systems.


Assuntos
Anormalidades Cardiovasculares , Pneumonia , Criança , Humanos , Uganda/epidemiologia , Pneumonia/diagnóstico por imagem , Pneumonia/epidemiologia , Dispneia , Hipóxia/diagnóstico por imagem
3.
J Matern Fetal Neonatal Med ; 36(1): 2183762, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36860092

RESUMO

OBJECTIVE: Aberrant right subclavian artery (ARSA) is known to be associated with specific chromosomal abnormalities. However, there is no agreement regarding clinical decisions related to isolated ARSA. This study evaluated the association between ARSA and genetic abnormalities to provide evidence for prenatal consultation and the postpartum management of isolated ARSA. METHODS: This single-center cross-sectional study involved fetuses diagnosed with ARSA between January 2014 and May 2021. A range of data was recorded for each patient, including screening ultrasound, fetal echocardiograms, genetic results, postnatal information, and follow-up records. RESULTS: ARSA was detected in 151 fetuses, of which 136 were considered isolated cases. The remaining 9.9% (15/151) of cases had cardiac and/or extracardiac abnormalities or soft markers. Data from karyotype analysis and chromosomal microarray analysis (CMA) were available for 56 and 33 (out of 56) fetuses, respectively. Genetic abnormalities were detected in 10.7% of fetuses (6/56). Of these, 4.4% (2/45) and 36.4% (4/11) were associated with isolated and non-isolated ARSA, respectively, with a significant difference between these two groups regarding the frequency of genetic abnormality (p = 0.011). The analysis detected Klinefelter Syndrome (47, XXY) and 16p11.2 microdeletion in two isolated cases. One case each of trisomy 21 and 22q11.2 deletion, and another case of 47, XXY, were detected in fetuses with cardiac anomalies. Partial 5q deletion was found in a fetus with extracardiac malformations. In total, 141 of the fetuses survived after birth; termination of pregnancy was performed for 10 fetuses; only two fetuses had mild symptoms of dysphagia. CONCLUSION: ARSA may be an underlying ultrasonic clue for genetic anomalies even in isolated ARSA. Fetuses with isolated ARSA cannot be ruled out for invasive antenatal diagnosis.


Assuntos
Anormalidades Cardiovasculares , Síndrome de Down , Gravidez , Feminino , Humanos , Estudos Transversais , Aberrações Cromossômicas
4.
Sci Rep ; 13(1): 3414, 2023 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-36854820

RESUMO

To evaluate the correlation between chromosomal abnormalities and fetal aberrant right subclavian artery (ARSA) with or without additional ultrasound anomalies (UAs). A total of 340 fetuses diagnosed with ARSA by ultrasound between December, 2015, and July, 2021, were included. All cases were subdivided into three groups: (A) 121 (35.6%) cases with isolated ARSA, (B) 91 (26.8%) cases with soft markers, and (C) 128 (37.6%) cases complicated with other UAs. Invasive testing was performed via amniotic fluid or cord blood karyotyping and chromosomal microarray analysis (CMA) in parallel, and pregnancy outcomes were followed. Karyotype abnormalities were identified in 18/340 (5.3%) patients. Karyotype abnormalities in Groups A, B, and C were 0/121 (0.0%), 7/91 (7.7%), and 11/128 (8.6%), respectively. CMA abnormalities with clinically significant variants were detected in 37/340 (10.9%) cases, of which 22q11.2 deletion syndrome and trisomy 21 accounted for 48.6% (18/37). The overall abnormal CMA with clinically significant variant detection rates in Groups A, B, and C were 3/121(2.5%), 13/91 (14.3%), and 21/128 (16.4%), respectively. There were significant difference in clinically significant CMA anomalies detection rate between Groups A and C (p < 0.05), as well as Groups A and B (p < 0.05). Comparing CMA to karyotyping showed a clinically significant incremental yield in Group C (7.8%, 10/128) compared to Groups A (2.5%, 3/121) and B (6.6%, 6/91) (p > 0.05). Fetal ARSA with additional UAs, concurred with cardiac and extra-cardiac anomalies, constitutes a high-risk factor for chromosomal aberrations, especially for pathogenic or likely pathogenic copy number variants.


Assuntos
Anormalidades Cardiovasculares , Cuidado Pré-Natal , Feminino , Gravidez , Humanos , Anormalidades Cardiovasculares/diagnóstico por imagem , Anormalidades Cardiovasculares/genética , Aberrações Cromossômicas , Líquido Amniótico , Encaminhamento e Consulta
5.
World J Pediatr Congenit Heart Surg ; 14(1): 21-23, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36847763

RESUMO

OBJECTIVE: We investigated the prevalence of isolated vascular rings in the general population of Southern Nevada. METHODS: We identified those prenatally and postnatally diagnosed with an isolated vascular ring between January 2014 and December 2021. We included only those with vascular or ligamentous structures completely encircling the trachea and esophagus. To investigate the prevalence of isolated vascular rings, we included only those with situs solitus, levocardia, and no significant intracardiac malformations. RESULTS: We identified 112 patients. Of the 112, 66 (59%) were female. There were approximately 211,000 total live births in Southern Nevada for the study period, for an overall prevalence of 5.3 isolated vascular rings per 10 000 live births. However, for the years 2014 to 2017, the average prevalence figure was 3.5 per 10 000 live births, and for the years 2018 to 2021, the average prevalence figure was 7.1 (range 6.5-8.0) per 10 000 live births. Simultaneously, the prenatal detection rate rose from 66% to 86%. CONCLUSIONS: Isolated vascular rings are common cardiovascular malformations. As prenatal detection rates in the Southern Nevada general population approach 90%, the prevalence figures for isolated vascular rings appear to asymptote at about 7 per 10 000 live births.


Assuntos
Anormalidades Cardiovasculares , Anel Vascular , Gravidez , Humanos , Feminino , Masculino , Anormalidades Cardiovasculares/epidemiologia , Coração , Traqueia , Nevada
6.
Artigo em Inglês | MEDLINE | ID: mdl-36811616

RESUMO

Repairing a complete vascular ring in adults can be challenging. A right aortic arch with an aberrant retro-oesophageal left subclavian artery and persistent diverticulum of Kommerell represents one of the most common variants seen in adults, and the ring is completed by the left-sided ligamentum arteriosum. Most presentations in adults occur secondary to oesophageal compression, resulting in varying degrees of dysphagia. Owing to the difficulty and challenges associated with exposure in adults, it is not unusual for surgeons to offer a two-incision approach or to stage the procedure. We present a detailed surgical technique for a single-incision repair of a right aortic arch with an aberrant retro-oesophageal left subclavian artery via a left posterolateral thoracotomy.


Assuntos
Anormalidades Cardiovasculares , Divertículo , Humanos , Adulto , Artéria Subclávia/cirurgia , Aorta Torácica/cirurgia , Anormalidades Cardiovasculares/cirurgia , Divertículo/complicações , Divertículo/cirurgia
7.
Prenat Diagn ; 43(3): 318-327, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36688559

RESUMO

Vascular anomalies are rare disorders that encompass a group of lesions characterized by abnormal development of the lymphovascular system. Majority of these anomalies are present at birth and could potentially be detected during the prenatal period on imaging. This allows for early intervention and prompt management to improve outcomes. However, they can be difficult to diagnose, given the rarity and overlapping findings. In this review article, we provide a comprehensive overview of congenital vascular anomalies with a liberal use of images of recent cases at our center emphasizing prenatal imaging findings and the natural history of these conditions.


Assuntos
Anormalidades Cardiovasculares , Malformações Vasculares , Recém-Nascido , Feminino , Gravidez , Humanos , Ultrassonografia Pré-Natal/métodos , Diagnóstico Pré-Natal/métodos , Malformações Vasculares/diagnóstico por imagem
8.
Int J Cardiovasc Imaging ; 39(1): 77-85, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: covidwho-2158083

RESUMO

The Coronavirus Disease 2019 (COVID-19) pandemic has transformed health systems worldwide. There is conflicting data regarding the degree of cardiovascular involvement following infection. A registry was designed to evaluate the prevalence of echocardiographic abnormalities in adults recovered from COVID-19. We prospectively evaluated 595 participants (mean age 45.5 ± 14.9 years; 50.8% female) from 10 institutions in Argentina and Brazil. Median time between infection and evaluation was two months, and 82.5% of participants were not hospitalized for their infection. Echocardiographic studies were conducted with General Electric equipment; 2DE imaging and global longitudinal strain (GLS) of both ventricles were performed. A total of 61.7% of the participants denied relevant cardiovascular history and 41.8% had prolonged symptoms after resolution of COVID-19 infection. Mean left ventricular ejection fraction (LVEF) was 61.0 ± 5.5% overall. In patients without prior comorbidities, 8.2% had some echocardiographic abnormality: 5.7% had reduced GLS, 3.0% had a LVEF below normal range, and 1.1% had wall motion abnormalities. The right ventricle (RV) was dilated in 1.6% of participants, 3.1% had a reduced GLS, and 0.27% had reduced RV function. Mild pericardial effusion was observed in 0.82% of participants. Male patients were more likely to have new echocardiographic abnormalities (OR 2.82, p = 0.002). Time elapsed since infection resolution (p = 0.245), presence of symptoms (p = 0.927), or history of hospitalization during infection (p = 0.671) did not have any correlation with echocardiographic abnormalities. Cardiovascular abnormalities after COVID-19 infection are rare and usually mild, especially following mild infection, being a low GLS of left and right ventricle, the most common ones in our registry. Post COVID cardiac abnormalities may be more frequent among males.


Assuntos
COVID-19 , Anormalidades Cardiovasculares , Adulto , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Função Ventricular Esquerda , Volume Sistólico , Estudos Retrospectivos , Valor Preditivo dos Testes , Ecocardiografia/métodos , Sistema de Registros
9.
Int J Cardiovasc Imaging ; 39(1): 77-85, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36515755

RESUMO

The Coronavirus Disease 2019 (COVID-19) pandemic has transformed health systems worldwide. There is conflicting data regarding the degree of cardiovascular involvement following infection. A registry was designed to evaluate the prevalence of echocardiographic abnormalities in adults recovered from COVID-19. We prospectively evaluated 595 participants (mean age 45.5 ± 14.9 years; 50.8% female) from 10 institutions in Argentina and Brazil. Median time between infection and evaluation was two months, and 82.5% of participants were not hospitalized for their infection. Echocardiographic studies were conducted with General Electric equipment; 2DE imaging and global longitudinal strain (GLS) of both ventricles were performed. A total of 61.7% of the participants denied relevant cardiovascular history and 41.8% had prolonged symptoms after resolution of COVID-19 infection. Mean left ventricular ejection fraction (LVEF) was 61.0 ± 5.5% overall. In patients without prior comorbidities, 8.2% had some echocardiographic abnormality: 5.7% had reduced GLS, 3.0% had a LVEF below normal range, and 1.1% had wall motion abnormalities. The right ventricle (RV) was dilated in 1.6% of participants, 3.1% had a reduced GLS, and 0.27% had reduced RV function. Mild pericardial effusion was observed in 0.82% of participants. Male patients were more likely to have new echocardiographic abnormalities (OR 2.82, p = 0.002). Time elapsed since infection resolution (p = 0.245), presence of symptoms (p = 0.927), or history of hospitalization during infection (p = 0.671) did not have any correlation with echocardiographic abnormalities. Cardiovascular abnormalities after COVID-19 infection are rare and usually mild, especially following mild infection, being a low GLS of left and right ventricle, the most common ones in our registry. Post COVID cardiac abnormalities may be more frequent among males.


Assuntos
COVID-19 , Anormalidades Cardiovasculares , Adulto , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Função Ventricular Esquerda , Volume Sistólico , Estudos Retrospectivos , Valor Preditivo dos Testes , Ecocardiografia/métodos , Sistema de Registros
10.
Arch. pediatr. Urug ; 93(2): e221, dic. 2022. tab
Artigo em Espanhol | LILACS, MMyP, BNUY, UY-BNMED | ID: biblio-1411435

RESUMO

Los defectos congénitos son alteraciones morfológicas que se originan durante la vida intrauterina que se presentan hasta en un 5% de los recién nacidos vivos. Tienen múltiples etiologías, siendo esta multifactorial en el 90% de los casos. Se realizó un estudio observacional, prospectivo, descriptivo incluyendo a todos los recién nacidos portadores de defectos congénitos en el período 2016-2020. El objetivo de este trabajo es determinar la incidencia de defectos congénitos en recién nacidos del Centro Hospitalario Pereira Rossell en el período mencionado, así como conocer su distribución por aparatos y sistemas, las características demográficas de esta población, la prevalencia de diagnóstico prenatal y la exposición materna a factores de riesgo durante la organogénesis. Se obtuvo una incidencia de 1,7% (423 recién nacidos afectados en 24.870 nacimientos), de los cuales el 34,98% contaba con diagnóstico prenatal. El sistema cardiovascular fue el que presentó una mayor frecuencia de alteraciones, y el defecto congénito más frecuentemente observado individualmente fue la gastrosquisis, con una incidencia de 15,28 cada 10.000 nacidos vivos. La diabetes gestacional se presentó en el 17,25% de las gestantes. Este trabajo nos permitió conocer la incidencia de defectos congénitos, así como su distribución por aparatos y sistemas. Este tipo de sistemas de vigilancia resultan fundamentales para identificar elementos a mejorar, que permitan disminuir la morbilidad y mortalidad de estos pacientes y también identificar precozmente factores de riesgo que aumenten estas patologías de forma significativa.


Congenital birth defects are morphological disturbances originated during gestation and present in up to 5% of live births. They have multiple etiologies, in 90% of cases of multifactorial origin. A longitudinal, prospective, observational study was carried out and it included all patients with congenital birth defects in 2016-2020. The main objective of this study was to determine the incidence of newborns with congenital birth defects between 2016 and 2020, to determine their distribution by organ, to describe their demographic characteristics, to calculate the prevalence of prenatal diagnosis and to identify maternal risk factors. We obtained an incidence of 1,7% (423 affected newborns in 24870 live births), 34,98% had prenatal diagnoses. The cardiovascular system was the most frequently affected and when classified by individual birth defect, the most frequently observed was gastroschisis with 15.28 cases in 10,000 live births. Gestational diabetes was the maternal risk factor most frequently observed with 17, 25%. This study enabled us to know the incidence of congenital birth defects and their distribution by different organs at our center. These surveillance systems are key to identify areas of potential improvement that might enable us to mitigate morbidity and mortality in this group of patients.


Os defeitos congênitos são alterações morfológicas que se originam durante a vida intrauterina e ocorrem em até 5% dos recém-nascidos vivos. Possuem múltiplas etiologias, sendo multifatoriais em 90% dos casos. Realizou-se um estudo observacional, prospectivo e descritivo incluindo todos os recém-nascidos com defeitos congênitos no período 2016-2020. O objetivo deste trabalho foi determinar a incidência de defeitos congênitos em recém-nascidos do Centro Hospitalar Pereira Rossell no período 2016-2020, bem como conhecer sua distribuição por órgãos e sistemas, as características demográficas dessa população, a prevalência de diagnóstico pré-natal e exposição materna a fatores de risco durante a organogênese. Obteve-se uma incidência de 1,7% (423 recém-nascidos afetados em 24.870 nascimentos), dos quais 34,98% tiveram diagnóstico pré-natal. O sistema cardiovascular foi o que apresentou maior frequência de alterações, e o defeito congênito mais observado individualmente foi a gastrosquise com incidência de 15,28 em cada 10.000 nascidos vivos. O diabetes gestacional ocorreu em 17,25% das gestantes. Este paper permitiu conhecer a incidência de defeitos congênitos, bem como sua distribuição por órgãos e sistemas. Estes tipos de sistemas de vigilância são essenciais para identificar elementos a melhorar, que permitam reduzir a morbilidade e mortalidade desses pacientes e também identificar precocemente fatores de risco que aumentam significativamente essas patologias.


Assuntos
Humanos , Masculino , Recém-Nascido , Anormalidades Congênitas/epidemiologia , Diagnóstico Pré-Natal , Uruguai/epidemiologia , Anormalidades Congênitas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Incidência , Estudos Prospectivos , Fatores de Risco , Distribuição por Sexo , Anormalidades Cardiovasculares/epidemiologia , Anormalidades do Sistema Digestório/epidemiologia
11.
BMJ Case Rep ; 15(12)2022 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-36526283

RESUMO

Costello syndrome (CS) is a rare genetic syndrome affecting multiple organs, generally caused by mutations of the HRAS gene, belonging to the RAS/MAPK genes family.A male patient with CS developed a painful pulsatile mass on the lateral side of the wrist. An initial ultrasonographic investigation confirmed the presence of a radial artery lesion, possibly an arterial aneurysm. On surgical resection, histological evaluation showed a tangle of vascular structures with variable calibre and abnormal wall histology. Immunohistochemical stainings revealed a very poor endothelial contribution to the central vascular wall structure. These histological observations led us to conclude we had managed an acute vascular malformation (VM) rupture, rather than a common arterial aneurysmal condition. Considering the molecular mechanisms regulated by RAS/MAPK genes, CS patients might have a higher risk of developing VMs and, in the presence of a pulsatile mass with acute onset, VM rupture should be considered.


Assuntos
Anormalidades Cardiovasculares , Síndrome de Costello , Malformações Vasculares , Humanos , Masculino , Síndrome de Costello/genética , Síndrome de Costello/patologia , Genes ras , Mutação , Malformações Vasculares/genética
13.
J Cardiothorac Surg ; 17(1): 283, 2022 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-36345018

RESUMO

Anomalous aortic origin of the right coronary artery is a rare disease. Although there are various reports on its treatment, the method of the surgical approach is still controversial. Here, we present a rare case of a 17 year-old man who had an anomalous aortic origin of the right coronary artery with an aberrant right subclavian artery. As a treatment, he underwent reimplantation of the right coronary artery. The surgical approach for the anomalous aortic origin of the right coronary artery should be selected by considering the age of the patient and size of the right coronary artery.


Assuntos
Anormalidades Cardiovasculares , Anomalias dos Vasos Coronários , Masculino , Humanos , Adolescente , Vasos Coronários/diagnóstico por imagem , Vasos Coronários/cirurgia , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/cirurgia , Artéria Subclávia/anormalidades , Anormalidades Cardiovasculares/complicações , Anormalidades Cardiovasculares/diagnóstico por imagem , Anormalidades Cardiovasculares/cirurgia , Reimplante , Anomalias dos Vasos Coronários/cirurgia
14.
Sci Rep ; 12(1): 20491, 2022 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-36443330

RESUMO

Few experimental model systems are available for the rare congenital heart diseases of double inlet left ventricle (DILV), a subgroup of univentricular hearts, and excessive trabeculation (ET), or noncompaction. Here, we explore the heart of the axolotl salamander (Ambystoma mexicanum, Shaw 1789) as model system of these diseases. Using micro-echocardiography, we assessed the form and function of the heart of the axolotl, an amphibian, and compared this to human DILV (n = 3). The main finding was that both in the axolotl and DILV, blood flows of disparate oxygen saturation can stay separated in a single ventricle. In the axolotl there is a solitary ventricular inlet and outlet, whereas in DILV there are two separate inlets and outlets. Axolotls had a lower resting heart rate compared to DILV (22 vs. 72 beats per minute), lower ejection fraction (47 vs. 58%), and their oxygen consumption at rest was higher than peak oxygen consumption in DILV (30 vs. 17 ml min-1 kg-1). Concerning the ventricular myocardial organization, histology showed trabeculations in ET (n = 5) are much closer to the normal human setting than to the axolotl setting. We conclude that the axolotl heart resembles some aspects of DILV and ET albeit substantial species differences exist.


Assuntos
Anormalidades Cardiovasculares , Coração Univentricular , Humanos , Animais , Ambystoma mexicanum , Urodelos , Coração
15.
Birth Defects Res ; 114(20): 1417-1426, 2022 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-36369770

RESUMO

BACKGROUND: Younger mothers are at a greater risk of having a pregnancy with gastroschisis and the risk is higher in the United Kingdom than other European countries. Gastroschisis is thought to be a vascular disruption anomaly and the aim of this study was to analyze the prevalence of other possible vascular disruption anomalies to determine whether both the younger maternal age and the UK associations also occur with these anomalies. METHODS: All pregnancies with anomalies considered potentially due to vascular disruption from January 1, 2005 to December 31, 2017 from 26 European population-based congenital anomaly registries who were members of EUROCAT were analyzed. Multilevel models were used to allow for differences between registries when analyzing associations with maternal age, year of birth and whether the registry was in the United Kingdom. RESULTS: There were 5,220 cases with potential vascular disruption anomalies, excluding chromosomal and genetic conditions, with a prevalence of 8.85 per 10,000 births in the United Kingdom and 5.44 in the other European countries. The prevalence per 10,000 births of gastroschisis (4.45 vs. 1.56) and congenital constriction bands (0.83 vs. 0.42) was significantly higher in the United Kingdom, even after adjusting for maternal age. However, transverse limb reduction defects had a similar prevalence (2.16 vs. 2.14 per 10,000). The expected increased prevalence in younger mothers was observed for vascular disruption anomalies overall and for the individual anomalies: gastroschisis and congenital constriction bands. CONCLUSION: Vascular disruption anomalies that had an increased risk for younger mothers (such as gastroschisis) had a higher maternal age standardized prevalence in the United Kingdom, while vascular disruption anomalies with weaker associations with younger mothers (such as transverse limb reduction defects) did not have an increased prevalence in the United Kingdom, which may indicate a different etiology for these anomalies.


Assuntos
Anormalidades Cardiovasculares , Gastrosquise , Malformações Vasculares , Gravidez , Feminino , Humanos , Idade Materna , Gastrosquise/epidemiologia , Gastrosquise/etiologia , Prevalência , Europa (Continente)/epidemiologia , Reino Unido/epidemiologia
17.
Front Endocrinol (Lausanne) ; 13: 1004946, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36339400

RESUMO

Background and objectives: Osteogenesis imperfecta (OI) is a rare disorder of abnormal production or modification of type I collagen, which is caused by mutations in COL1A1, COL1A2 or other genes. We investigate the cardiac abnormalities and its correlation with pathogenic mutations in OI children. Methods: A cross-sectional comparative study was completed in a relatively large sample of OI children, who were matched in body surface area (BSA) with healthy controls. All echocardiography was performed by experienced cardiologists using Vivid 7 equipment (GE Medical Systems, Horton, Norway). The resting standard 12-lead electrocardiogram (ECG) were obtained in OI patients by FX-8600 machine. Skeletal phenotypes of OI patients were evaluated, including information of bone fractures, deformities, motility, and bone mineral density (BMD). Pathogenic mutations of OI were detected by a next-generation sequencing panel and confirmed by Sanger sequencing. Results: A total of 69 OI children and 42 healthy children matched in BSA were enrolled. Abnormalities of echocardiography were found in 6 OI children, including enlarged left atrium (n=5), increased internal diameter of the left ventricle (n=1), who all carried the COL1A1 mutation. Mild regurgitation of mitral or tricuspid valves was observed in 26 OI patients. Abnormal ECG manifestations were found in 8 OI children, including deep Q wave, T wave change, premature ventricular complexes, short P-R interval, incomplete bundle branch block and high voltage of left ventricular. Compared with healthy controls, OI children had significant larger values in the main pulmonary artery (1.84 vs 1.60 cm, P < 0.01), left atrial diameter (2.58 vs 2.11 cm, P < 0.001), left ventricular internal dimension at end-diastolic (LVEDd) (3.85 vs 3.50 cm, P < 0.05) and lower left ventricular ejection fraction (LVEF) (68.40% vs 71.74%, P < 0.01). Moreover, OI patients with COL1A1 mutation tended to have greater main pulmonary artery, larger diameters of left atrial and LVEDd, and lower LVEF than healthy controls. COL1A1 mutation was correlated to dilated MPA (ß = 1.557, P < 0.01), LAD (ß = 3.915, P < 0.001), and LVEDd (ß = 2.714, P < 0.01), and decreased LVEF (ß = -3.249, P < 0.01). Conclusions: Cardiovascular alterations were identified in OI children, including increased dimensions of the main pulmonary artery and left chamber, and low LVEF. The cardiovascular abnormalities seemed to be correlated to COL1A1 mutation and defects of type I collagen, which expanded our understandings of the cardiac phenotypes of OI children.


Assuntos
Anormalidades Cardiovasculares , Osteogênese Imperfeita , Humanos , Osteogênese Imperfeita/genética , Colágeno Tipo I/genética , Estudos Transversais , Volume Sistólico , Função Ventricular Esquerda , Genótipo
18.
Surg Radiol Anat ; 44(11): 1461-1465, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36273342

RESUMO

A female cadaver fixated with 10% formalin solution was dissected during a routine undergraduate anatomy class. It was found that both the right and left carotid arteries arose from a bi-carotid trunk as the first branch of the aortic arch. The bi-carotid trunk was followed by the left subclavian artery. The aberrant right subclavian artery (the last branch) had a retro-oesophageal course. These variations were associated with the linguofacial trunk bilaterally. The group of variant anatomy of vessels encompassing the bi-carotid trunk, aberrant right subclavian artery, and the linguofacial trunk is extremely rare. A similar case has not been reported yet in the literature. The anatomic and morphologic variations of the aortic arch and its branches are important for diagnostic and surgical procedures in the thorax and neck region. Thoracovascular surgeons and interventional radiologists should be aware of these anomalies during head and neck surgery, aortic instrumentation, and four-vessel angiography.


Assuntos
Anormalidades Cardiovasculares , Artéria Subclávia , Feminino , Humanos , Artéria Subclávia/anormalidades , Tronco Braquiocefálico/anormalidades , Aorta Torácica/anormalidades , Artérias Carótidas/anormalidades
19.
Tex Heart Inst J ; 49(5)2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36191603

RESUMO

Vascular ring is a rare congenital anomaly in which the abnormal origin of the aorta or its branches and pulmonary arteries leads to encircling and compression of the trachea and esophagus. A right aortic arch (RAA) with an aberrant left subclavian artery is one of the most common forms of vascular ring. Here, we report a case of a prenatally diagnosed vascular ring resulting from an RAA with an aberrant left subclavian artery. When the infant was 7 months of age, the development of noisy breathing prompted further evaluation with cardiac magnetic resonance imaging that showed an atretic left subclavian artery associated with collateral retrograde flow from the left vertebral artery to the distal portion of the subclavian artery. Our findings indicate that an untreated RAA with an aberrant left subclavian artery may be associated with an increased risk of developing subclavian artery steal syndrome.


Assuntos
Síndrome do Roubo Subclávio , Anel Vascular , Aorta Torácica/anormalidades , Aorta Torácica/diagnóstico por imagem , Anormalidades Cardiovasculares , Humanos , Lactente , Artéria Subclávia/anormalidades , Artéria Subclávia/diagnóstico por imagem , Anel Vascular/complicações , Anel Vascular/diagnóstico
20.
BMJ Open ; 12(10): e059108, 2022 10 05.
Artigo em Inglês | MEDLINE | ID: mdl-36198453

RESUMO

OBJECTIVES: Optimal periprocedural blood pressure (BP) management during mechanical thrombectomy (MT) for acute ischaemic stroke is still controversial. The aim of this study was to investigate the association between intraprocedural BP variability (BPV) and outcomes in patients with large vessel occlusion (LVO) following MT with general anaesthesia. DESIGN: A prospective observational cohort study. SETTING: This study was conducted in a single tertiary hospital of Hangzhou in Zhejiang province. PARTICIPANTS: A total of 141 patients with LVO treated with MT were finally included between January 2018 and September 2020. MAIN OUTCOME MEASURES: Intraprocedural BP was recorded every 5 min throughout the procedure. BPV was measured as SD, coefficient of variation (CV), max-min (RANGE) and successive variation. Haemorrhagic transformation was assessed on 24-hour CT images according to European Cooperative Acute Stroke Study III trial. Poor functional outcome was defined as 90-day modified Rankin Scale score 3-6. Binary logistic regression analysis was used to investigate the association of BPV parameters with the incidence of parenchymal haemorrhage (PH) and poor functional outcome. RESULTS: After controlling for age, female, history of smoking, hypertension and atrial fibrillation, baseline National Institutes of Health Stroke Scale, baseline systolic BP (SBP), baseline Alberta Stroke Program Early CT Score, bridging thrombolysis and times of retrieval attempts, the results demonstrated that intraprocedural SBPRANGE (OR 1.029; 95% CI 1.003 to 1.055; p=0.027), SBPSD (OR 1.135; 95% CI 1.023 to 1.259; p=0.017) and SBPCV (OR 1.189; 95% CI 1.053 to 1.342; p=0.005) were independently associated with poor functional outcome. However, the independent association between intraprocedural BPV and PH at 24 hours has not been established in this study. CONCLUSIONS: Increased intraprocedural BPV was more likely to have poor functional outcome in patients with LVO following MT with general anaesthesia. This finding indicates that special precautions should be taken to minimise BP fluctuation during procedure.


Assuntos
Isquemia Encefálica , Anormalidades Cardiovasculares , Acidente Vascular Cerebral , Anestesia Geral , Pressão Sanguínea/fisiologia , Isquemia Encefálica/terapia , Feminino , Humanos , Estudos Prospectivos , Estudos Retrospectivos , Acidente Vascular Cerebral/terapia , Trombectomia/métodos , Resultado do Tratamento
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