Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.903
Filtrar
1.
Echocardiography ; 41(7): e15874, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38924187

RESUMEN

The combination of the right aortic arch and aberrant left subclavian artery (ALSA) with Kommerell's diverticulum (KD) is rare to coexist with the left innominate vein (LINV) beneath the aortic arch. It escalates the surgical risk undoubtedly and increases the difficulty of clinical procedures. We report one case diagnosed by Ultrasound and Computed Tomography Angiography (CTA).


Asunto(s)
Aorta Torácica , Venas Braquiocefálicas , Divertículo , Arteria Subclavia , Humanos , Aorta Torácica/diagnóstico por imagen , Aorta Torácica/anomalías , Divertículo/diagnóstico por imagen , Divertículo/complicaciones , Venas Braquiocefálicas/anomalías , Venas Braquiocefálicas/diagnóstico por imagen , Arteria Subclavia/anomalías , Arteria Subclavia/diagnóstico por imagen , Angiografía por Tomografía Computarizada/métodos , Masculino , Femenino , Ecocardiografía/métodos , Anomalías Múltiples , Aneurisma/complicaciones , Aneurisma/diagnóstico por imagen , Anomalías Cardiovasculares/complicaciones , Anomalías Cardiovasculares/diagnóstico por imagen
2.
No Shinkei Geka ; 52(3): 470-476, 2024 May.
Artículo en Japonés | MEDLINE | ID: mdl-38783489

RESUMEN

A right aortic arch and aberrant subclavian artery result from an interruption in the remodeling of the pharyngeal arch arteries. We occasionally encounter this anatomical variation during angiography. Patients with disorders such as Down syndrome and congenital heart disease show a high incidence of an aberrant right subclavian artery, and this anomaly can cause symptomatic esophageal or tracheal compression. The root of the aberrant artery may show dilatation(referred to as a Kommerell diverticulum), dissection, intramural hematoma, or rupture necessitating cardiac intervention using a surgical or endovascular approach. Neurointerventionalists should have working knowledge of the anatomy to rapidly understand the anatomy and ensure a safe procedure. A left transradial approach should be considered if prior knowledge of the aberrant subclavian anatomy is available.


Asunto(s)
Aorta Torácica , Arteria Subclavia , Humanos , Aorta Torácica/anomalías , Aorta Torácica/diagnóstico por imagen , Arteria Subclavia/anomalías , Arteria Subclavia/diagnóstico por imagen , Remodelación Vascular , Anomalías Cardiovasculares
3.
BMC Neurol ; 24(1): 119, 2024 Apr 11.
Artículo en Inglés | MEDLINE | ID: mdl-38605286

RESUMEN

BACKGROUND: Ischemic stroke in young adults can be caused by a variety of etiologies including the monogenic disorders. Visceral heterotaxy is a condition caused by abnormal left-right determinations during embryonic development. We aimed to determine the cause of a young ischemic stroke patient with visceral heterotaxy. CASE PRESENTATION: We performed neurological, radiological, and genetic evaluations in a 17-year-old male patient presenting ischemic stroke and visceral heterotaxy to determine the underlying cause of this rare disease combination. Brain magnetic resonance imaging (MRI) showed evidence of embolic stroke, abdominal computed tomography (CT) showed visceral heterotaxy, and echocardiogram showed cardiac anomaly with right-to-left-shunt (RLS). Whole genome sequencing (WGS) revealed a heterozygous missense variant (NM_018055.5: c.1016 T > C, p.(Met339Val)) in the NODAL gene, which is essential to the determination of the left-right body axis. CONCLUSIONS: Our study highlights the importance of evaluating genetic etiology in young ischemic stroke and the need for stroke risk management in visceral heterotaxy patients with RLS. To the best of our knowledge, we report the first genetically-confirmed case of visceral heterotaxy with young embolic stroke reported to date.


Asunto(s)
Accidente Cerebrovascular Embólico , Síndrome de Heterotaxia , Adolescente , Humanos , Masculino , Anomalías Cardiovasculares , Síndrome de Heterotaxia/genética , Imagen por Resonancia Magnética , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/genética
4.
Pediatr Med Chir ; 46(1)2024 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-38625064

RESUMEN

Dysphagia lusoria is a rare pediatric condition caused by extrinsic compression of the esophagus by an abnormal subclavian artery. The most common congenital abnormality in aortic arch development is an aberrant right subclavian artery. The retroesophageal right subclavian artery is typically symptomatic in 10-33% of cases. The patient, an 8-month-old girl with a history of early dysphagia and stridor, was diagnosed with an abnormal right subclavian artery. She was admitted to the pneumology service multiple times due to stridor, vomiting, and failure to thrive. During hospitalization at the gastroenterology service, a barium swallow and an upper digestive endoscopy indicated an abnormal right subclavian artery, which was confirmed by an Angiography CT scan. She underwent surgery at the age of sixteen months. All symptoms are resolved following surgical intervention, and the patient is still asymptomatic and in good clinical condition 12 months later. Every physician should be aware of abnormal right subclavian arteries and their clinical symptoms in children and adults in order to recognize and diagnose them early. Only an early evaluation may reduce complications such as delayed physical growth, dysphagia, and recurrent respiratory infections.


Asunto(s)
Anomalías Cardiovasculares , Trastornos de Deglución , Arteria Subclavia/anomalías , Adulto , Femenino , Humanos , Niño , Lactante , Trastornos de Deglución/etiología , Arteria Subclavia/diagnóstico por imagen , Ruidos Respiratorios , Torso
7.
Kyobu Geka ; 77(3): 226-229, 2024 Mar.
Artículo en Japonés | MEDLINE | ID: mdl-38465497

RESUMEN

Congenital pericardial defect is a rare congenital condition. It is often asymptomatic and discovered incidentally, frequently during autopsies, medical investigations, or surgery. Nevertheless, there are few reported cases of its discovery during lung cancer surgery. Lung cancer surgery can lead to changes in lung volume, potentially resulting in postoperative complications. Hence, it is crucial to consider potential complications and exercise caution when determining the course of action, taking into account the extent of the pericardial defect.


Asunto(s)
Anomalías Cardiovasculares , Cardiopatías , Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/cirugía , Pericardio
8.
Sci Rep ; 14(1): 7348, 2024 03 28.
Artículo en Inglés | MEDLINE | ID: mdl-38538978

RESUMEN

To evaluate the current incidence of pulmonary hemorrhage and the potential factors contributing to its increased risk after percutaneous CT-guided pulmonary nodule biopsy and to summarize the technical recommendations for its treatment. In this observational study, patient data were collected from ten medical centers from April 2021 to April 2022. The incidence of pulmonary hemorrhage was as follows: grade 0, 36.1% (214/593); grade 1, 36.8% (218/593); grade 2, 18.9% (112/593); grade 3, 3.5% (21/593); and grade 4, 4.7% (28/593). High-grade hemorrhage (HGH) occurred in 27.2% (161/593) of the patients. The use of preoperative breathing exercises (PBE, p =0.000), semiautomatic cutting needles (SCN, p = 0.004), immediate contrast enhancement (ICE, p =0.021), and the coaxial technique (CoT, p = 0.000) were found to be protective factors for HGH. A greater length of puncture (p =0.021), the presence of hilar nodules (p = 0.001), the presence of intermediate nodules (p = 0.026), a main pulmonary artery diameter (mPAD) larger than 29 mm (p = 0.015), and a small nodule size (p = 0.014) were risk factors for high-grade hemorrhage. The area under the curve (AUC) was 0.783. These findings contribute to a deeper understanding of the risks associated with percutaneous CT-guided pulmonary nodule biopsy and provide valuable insights for developing strategies to minimize pulmonary hemorrhage.


Asunto(s)
Anomalías Cardiovasculares , Enfermedades Pulmonares , Neoplasias Pulmonares , Nódulo Pulmonar Solitario , Humanos , Incidencia , Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Pulmonares/epidemiología , Enfermedades Pulmonares/etiología , Hemorragia/epidemiología , Hemorragia/etiología , Biopsia Guiada por Imagen/efectos adversos , Tomografía Computarizada por Rayos X/métodos , Factores de Riesgo , Estudios Retrospectivos , Anomalías Cardiovasculares/etiología , Neoplasias Pulmonares/patología , Nódulo Pulmonar Solitario/diagnóstico por imagen
9.
Arch Gynecol Obstet ; 310(1): 129-133, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38555333

RESUMEN

PURPOSE: This study aims to explore the correlation between fetal aberrant right subclavian artery (ARSA) and chromosomal disorders, with a specific focus on Down syndrome and DiGeorge syndrome. METHODS: From November 2017 to February 2020, we conducted fetal anomaly screening and assessed the fetal heart in 8494 at our institution. The right subclavian artery tracing was assessed using Doppler ultrasonography following the 3-vessel and tracheal views (3VTV) in the fetal heart scan. RESULTS: ARSA was found in 31 fetuses, which accounts for 0.36% of the total of 8494 fetuses. 96.8% of fetuses with ARSA were found to have normal chromosomal analysis. We identified only one case of trisomy 21 as the chromosomal condition present. In 80% of the identified ARSA, there were no additional associated findings. CONCLUSION: ARSA is a rare condition that often does not manifest any concomitant abnormalities. The majority of ARSA instances identified in the second trimester are euploid. If ARSA is the only sonographic finding during fetal anomaly screening and there are no maternal or laboratory risk factors, further evaluation with non-invasive diagnostics may be recommended. Non-invasive genetic testing may be used for additional investigation.


Asunto(s)
Anomalías Cardiovasculares , Arteria Subclavia , Ultrasonografía Prenatal , Humanos , Arteria Subclavia/anomalías , Arteria Subclavia/diagnóstico por imagen , Femenino , Embarazo , Anomalías Cardiovasculares/diagnóstico por imagen , Adulto , Síndrome de Down/diagnóstico por imagen , Aneurisma/diagnóstico por imagen , Síndrome de DiGeorge/diagnóstico por imagen , Recién Nacido , Segundo Trimestre del Embarazo , Trastornos de Deglución/diagnóstico por imagen
10.
World Neurosurg ; 185: e1330-e1337, 2024 05.
Artículo en Inglés | MEDLINE | ID: mdl-38521216

RESUMEN

OBJECTIVE: To assess the effectiveness and safety of neurological interventions using the right transradial approach (R-TRA) in patients with aberrant right subclavian artery (ARSA). METHODS: We retrospectively analyzed cases that underwent cerebral angiography and interventions at Huangpi District People's Hospital from January 2023 to July 2023. Out of 335 cases, 5 patients with ARSA were identified. RESULTS: All 5 cases underwent diagnostic cerebral angiography via R-TRA. Two of the patients received interventions via R-TRA: 1 underwent right internal carotid artery balloon dilation angioplasty, while another underwent left vertebral artery stenting. No surgery-related complications were observed during these procedures. CONCLUSIONS: R-TRA proves to be a safe and effective option for neuro-interventional surgery in patients with ARSA.


Asunto(s)
Anomalías Cardiovasculares , Angiografía Cerebral , Arteria Subclavia , Humanos , Arteria Subclavia/anomalías , Arteria Subclavia/cirugía , Arteria Subclavia/diagnóstico por imagen , Femenino , Masculino , Estudios Retrospectivos , Persona de Mediana Edad , Anomalías Cardiovasculares/cirugía , Anomalías Cardiovasculares/diagnóstico por imagen , Angiografía Cerebral/métodos , Adulto , Arteria Radial/cirugía , Arteria Radial/diagnóstico por imagen , Angioplastia de Balón/métodos , Stents , Anciano , Aneurisma/cirugía , Aneurisma/diagnóstico por imagen , Resultado del Tratamiento
11.
Surg Radiol Anat ; 46(4): 519-522, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38480591

RESUMEN

PURPOSE: A right aortic arch (RAA) is a rare vascular anomaly that often coexists with an aberrant left subclavian artery (ALSA). Due to the rarity of RAA, the development of an ALSA is not well understood. METHOD: We describe a case in which a 58-year-old man who was scheduled to undergo posterior decompression and fusion surgery for thoracic ossification of the posterior longitudinal ligament from Th1 to Th3 was found to have a RAA and an ALSA. RESULTS: Preoperative computed tomography angiography demonstrated a RAA and an ALSA. The ALSA was extremely tortuous and ran in the paraspinal muscles behind the thoracic laminae, which meant it was in the surgical field. The ALSA arose from the descending aorta and bifurcated into the left segmental arteries of Th1 and Th2, and also bifurcated into the left vertebral artery, which had a normal subsequent course. The dysplastic ALSA was considered to have developed from the thoracic intersegmental artery. Based on preoperative examination findings, we performed spinal surgery without vessel injury. CONCLUSION: We report a rare case of a dysplastic ALSA that developed from the thoracic intersegmental artery with a RAA. The knowledge of this anomaly provides safety in spinal surgery of the cervicothoracic junction.


Asunto(s)
Anomalías Cardiovasculares , Arteria Subclavia/anomalías , Malformaciones Vasculares , Masculino , Humanos , Persona de Mediana Edad , Aorta Torácica/diagnóstico por imagen , Aorta Torácica/cirugía , Aorta Torácica/anomalías , Anomalías Cardiovasculares/diagnóstico por imagen , Anomalías Cardiovasculares/cirugía , Anomalías Cardiovasculares/complicaciones , Arteria Subclavia/diagnóstico por imagen , Malformaciones Vasculares/complicaciones
14.
World J Pediatr Congenit Heart Surg ; 15(2): 242-245, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38378189

RESUMEN

Reoperative vascular ring surgery is uncommon. Standard redo ipsilateral thoracotomy may present technical challenges and risks. We describe a patient with right aortic arch, aberrant left subclavian artery, and a Kommerell diverticulum in whom previous vascular ring division via left thoracotomy did not relieve dysphagia. Three years after the unsuccessful operation, left subclavian-carotid transposition via supraclavicular incision followed by resection of the Kommerell diverticulum via right thoracotomy with extracorporeal circulation relieved symptoms. Contralateral thoracotomy with extracorporeal circulation provides a safe, alternative approach to redo ipsilateral thoracotomy for resection of a symptomatic Kommerell diverticulum. We review the literature on the incidence, surgical indications, and operative approaches to manage symptoms from a Kommerell diverticulum.


Asunto(s)
Anomalías Cardiovasculares , Divertículo , Cardiopatías Congénitas , Anillo Vascular , Humanos , Anillo Vascular/cirugía , Aorta Torácica/cirugía , Toracotomía , Arteria Subclavia/cirugía , Anomalías Cardiovasculares/cirugía , Cardiopatías Congénitas/cirugía , Circulación Extracorporea , Divertículo/diagnóstico
15.
Ann Vasc Surg ; 102: 160-171, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38309426

RESUMEN

BACKGROUND: Peripheral artery disease (PAD) is associated with high morbidity and mortality and has been commonly described as a coronary heart disease equivalent. Statin medications are recommended for primary prevention of atherosclerotic cardiovascular disease (CVD) among other indications. Therefore, understanding the longitudinal relationship of incident PAD is necessary to inform future research on how to prevent the disease. Depression complicates CVD patients' ability to properly adhere to their medications, yet the effect of depression on the relationship between statin use and incident PAD is understudied. People with PAD have a higher incidence of depressive symptoms than people without PAD. Black American and Hispanic populations are disproportionately affected by both PAD and depression yet research on the modifying effect of either race or depression on the relationship between statin use and onset of PAD is minimal. While statin utilization is highest for ages 75-84 years, there is minimal evidence of favorable risk-benefit balance. Consequently, in this project, we examined the relationship between statin use and incident PAD and whether this relationship is modified by race/ethnicity, depressive symptoms, or age. METHODS: We used data on participants from the Multi-Ethnic Study of Atherosclerosis from visit 1 (2000) through study visit 6 (2020) who had three separate measurements of the ankle-brachial index (ABI) taken at visit 1, visit 3, and visit 5. Incident PAD was defined as 1) incident lower extremity amputation or revascularization or 2) ABI less than 0.90 coupled with ABI decrease greater than 0.15 over the follow-up period. Statin use was noted on the study visit prior to incident PAD diagnosis while depressive symptoms were measured at exam 1, visit 3, and visit 5. Propensity score matching was implemented to create balance between the participants in the two treatment groups, that is, statin-treated and statin-untreated groups, to reduce the problem of confounding by indication. Propensity scores were calculated using multivariate logistic regression model to estimate the probability of receiving statin treatment. We used Cox proportional hazards regression to investigate the relationship between time-dependent statin use as well as other risk factors with incident PAD, overall and stratified by 1) race, 2) depression status, and 3) age. RESULTS: A total of 4,210 participants were included in the final matched analytic cohort. There were 810 incident cases (19.3%) of PAD that occurred over an average (mean) of 11.3 years (SD = 5.7) of follow-up time. In the statin-treated group, and with an average follow-up time of 12.5 years (SD = 5.6), there were 281 cases (13.4%) of incident PAD with the average follow-up time of 10.1 years (SD = 5.5), whereas in the statin-untreated group, there were 531 cases (25.2%) (P < 0.001). Results demonstrate a lower risk of PAD event in the statin-treated group compared to the untreated group (hazard ratio [HR] = 0.45, 95% confidence interval [CI]: 0.33-0.62) over the span of 18.5 years. The interactions between 1) depression and 2) race with statin use for incident PAD were not significant. However, other risk factors which were significant included Black American race that had approximately 30% lower hazard of PAD compared to non-Hispanic White (HR = 0.70, 95% CI: 0.58-0.84); age-stratified models were also fitted, and stain use was still a significant treatment factor for ages 45-54 (HR = 0.45, 95% CI: 0.33-0.63), 55-64 (HR = 0.61, 95% CI: 0.46-0.79), and 65-74 years (HR = 0.61, 95% CI: 0.48-0.78) but not for ages 75-84 years. CONCLUSIONS: Statin use was associated with a decreased risk of incident PAD for those under the age of 75 years. Neither race nor depression significantly modified the relationship between statin use and incident PAD; however, the risk of incident PAD was lower among Black Americans. These findings highlight that the benefit of statin may wane for those over the age of 75 years. Findings also suggest that statin use may not be compromised in those living with depression.


Asunto(s)
Aterosclerosis , Anomalías Cardiovasculares , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Enfermedad Arterial Periférica , Humanos , Anciano , Inhibidores de Hidroximetilglutaril-CoA Reductasas/efectos adversos , Depresión/diagnóstico , Depresión/tratamiento farmacológico , Depresión/epidemiología , Resultado del Tratamiento , Enfermedad Arterial Periférica/diagnóstico , Enfermedad Arterial Periférica/epidemiología , Aterosclerosis/diagnóstico , Factores de Riesgo
16.
Medicine (Baltimore) ; 103(8): e36856, 2024 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-38394517

RESUMEN

BACKGROUND: A high incidence of anatomical variations in the origin of the branches of the aortic arch has been reported, Nowadays, this variation is considered the most frequent in the aortic arch, its prevalence being estimated between 0.5% and 2.5% of the population. To understand its origin, knowledge of embryonic development is necessary. METHODS: We searched the MEDLINE, Scopus, Web of Science, Google Scholar, Cumulative Index to Nursing and Allied Health Literature, and Latin-American literature and caribean of health sciences databases with dates ranging from their inception to June 2023. Study selection, data extraction, and methodological quality were assessed with the guaranteed tool for anatomical studies (Anatomical Quality Assurance). Finally, the pooled prevalence was estimated using a random effects model. RESULTS: Thirty-nine studies were found that met the eligibility criteria. Twenty studies with a total of 41,178 subjects were included in the analysis. The overall prevalence of an ARSA variant was 1% (95% confidence interval = 1%-2%), the clinical findings found are that if ARSA is symptomatic it could produce changes in the hemodynamic function of the thoracocervical region in addition to other associated symptomatic complications in surrounding structures. CONCLUSIONS: ARSA can cause several types of alterations in the cervical or thoracic region, resulting in various clinical complications, such as lusory dysphagia. Hence, knowing this variant is extremely important for surgeons, especially those who treat the cervico-thoracic region. The low prevalence of ARSA means that many professionals are completely unaware of its existence and possible course and origin. Therefore, this study provides detailed knowledge of ARSA so that professionals can make better diagnoses and treatment of ARSA.


Asunto(s)
Anomalías Cardiovasculares , Trastornos de Deglución , Enfermedades del Cuello del Útero , Embarazo , Femenino , Humanos , Arteria Subclavia , Anomalías Cardiovasculares/epidemiología , Anomalías Cardiovasculares/diagnóstico , Trastornos de Deglución/epidemiología , Trastornos de Deglución/diagnóstico , Aorta Torácica
17.
BMC Pregnancy Childbirth ; 24(1): 119, 2024 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-38331740

RESUMEN

BACKGROUND: Hyperemesis gravidarum (HG) is a severe form of pregnancy-related nausea and vomiting affecting 0.3-2.3% of pregnancies, which can lead to fluid, electrolyte, and acid-base imbalances, nutritional deficiencies, and weight loss, and is usually severe enough to require hospitalization. Abnormally elevated urinary ketones are commonly seen in patients with HG, and ketone bodies are free to pass through the placenta, and maternal hyperketonemia, with or without acidosis, is associated with an increased rate of stillbirth, an increased incidence of congenital anomalies, and impaired neurophysiologic development of the infant. This study investigates the obstetric outcomes of patients with HG and whether HG increases the incidence of cardiovascular disease in the offspring. METHODS: This study included 1020 pregnant women who were hospitalized in our hospital for HG and ultimately delivered in our hospital as well as pregnant women without HG in early gestation and delivered in our hospital from January 2019-January 2020, and we collected and followed up the clinical information of the pregnant women and their offspring. RESULTS: Pregnant women with HG were more likely to have severe urinary ketones, the rate of early miscarriage and mid-term miscarriage was significantly higher in women with HG compared to pregnant women without HG. Fetal and neonatal head and abdominal circumferences were smaller in HG group than in control group. Neonatal birth weight and length were also lower in the HG group and cardiovascular anomalies were more likely to occur in the offspring of women with HG when all births were followed up for 3 years. CONCLUSIONS: HG may cause poor obstetric outcomes and was associated with the development of cardiovascular disease in the offspring of women with HG.


Asunto(s)
Aborto Espontáneo , Anomalías Cardiovasculares , Enfermedades Cardiovasculares , Hiperemesis Gravídica , Recién Nacido , Embarazo , Femenino , Humanos , Hiperemesis Gravídica/epidemiología , Hiperemesis Gravídica/complicaciones , Enfermedades Cardiovasculares/etiología , Enfermedades Cardiovasculares/complicaciones , Cetonas
18.
Calcif Tissue Int ; 114(3): 210-221, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38243143

RESUMEN

Osteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive overview of the literature on cardiovascular diseases in OI patients in order to raise awareness of this understudied clinical aspect of OI and support clinical guidelines. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, Web of Science and Scopus was conducted that included articles from the inception of these databases to April 2023. Valvular disease, heart failure, atrial fibrillation, and hypertension appear to be more prevalent in OI than in control individuals. Moreover, a larger aortic root was observed in OI compared to controls. Various cardiovascular diseases appear to be more prevalent in OI than in controls. These cardiovascular abnormalities are observed in all types of OI and at all ages, including young children. As there are insufficient longitudinal studies, it is unknown whether these abnormalities are progressive in nature in OI patients. Based on these findings, we would recommend referring individuals with OI to a cardiologist with a low-threshold.


Asunto(s)
Anomalías Cardiovasculares , Enfermedades Cardiovasculares , Osteogénesis Imperfecta , Niño , Humanos , Preescolar , Osteogénesis Imperfecta/genética , Enfermedades Cardiovasculares/complicaciones , Anomalías Cardiovasculares/complicaciones , Colágeno Tipo I , Estudios Longitudinales
19.
Am J Med Genet A ; 194(1): 64-69, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37705207

RESUMEN

Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized. In this study, we describe two individuals with co-occurrence of Turner syndrome and vascular malformations with a lymphatic component. In these individuals, genetic testing of the lesional tissue revealed a somatic pathogenic variant in PIK3CA-a known and common cause of lymphatic malformations. Based on this finding, we conclude that the vascular malformations presented here and likely those previously in the literature are not a rare part of the clinical spectrum of Turner syndrome, but rather a separate clinical entity that may or may not co-occur in individuals with Turner syndrome.


Asunto(s)
Anomalías Cardiovasculares , Anomalías Linfáticas , Síndrome de Turner , Malformaciones Vasculares , Humanos , Síndrome de Turner/complicaciones , Síndrome de Turner/genética , Mosaicismo , Anomalías Linfáticas/genética , Malformaciones Vasculares/complicaciones , Malformaciones Vasculares/genética , Fosfatidilinositol 3-Quinasa Clase I/genética
20.
Folia Morphol (Warsz) ; 83(1): 44-52, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-36896645

RESUMEN

BACKGROUND: The retro-oesophageal right subclavian artery (RRSA) is a congenital anomalous branching of the arch of the aorta. Because its incidence is very low, it has not been fully understood how the RRSA develops during embryogenesis, and thus accumulation of observed findings in newly found cases is important to elucidate the aetiology of the RRSA. MATERIALS AND METHODS: We encountered a case of the RRSA during the course of gross anatomy dissection for medical students. RESULTS: The main findings in the present observations are that (a) the RRSA arose from the right side wall of the arch of the aorta as its last branch; (b) the detected RRSA was directed to the right and upward between the oesophagus and vertebral column; (c) the right vertebral artery branched from the RRSA and entered the sixth cervical foramen transversarium; (d) the suprema intercostal artery branched from the costocervical trunk on both sides and its distal branches were distributed to the first and second intercostal spaces; and (e) both sides of bronchial arteries originated from the thoracic aorta. CONCLUSIONS: The present study gives further information about the morphological details of the RRSA leading to better understanding of its developmental process.


Asunto(s)
Anatomía Regional , Anomalías Cardiovasculares , Arteria Subclavia/anomalías , Humanos , Arteria Vertebral/anomalías , Aorta Torácica/anomalías
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...