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1.
BMC Oral Health ; 24(1): 440, 2024 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-38600501

RESUMEN

BACKGROUND: An oroantral fistula is a communication between the maxillary antrum and oral cavity. This pathological communication is formed mainly due to dental extraction of maxillary premolars and molars. Adequate management should include closing the oroantral fistula and eliminating sinus infections to prevent recurrence and sinusitis. PURPOSE: This study aimed to evaluate the effectiveness of using the pedicled buccal periosteal flap for closing an oroantral fistula without changing the native intraoral structure. PATIENTS & METHODS: Patients with oroantral fistulas were included in this study. The patients were examined clinically by Valsalva test and cheek-blowing test, the hole was probed, and the extent of the underlying bone defect was determined radiographically using computed tomography preoperatively. All patients underwent surgical closure of oroantral fistula using a pedicled buccal periosteal flap. RESULTS: All 10 patients obtained satisfactory results with marked improvement in the function of the maxillary sinus and complete healing of oroantral fistula with no recurrence except in Case No. 5, who had a recurrence of the oroantral fistula, also there was no statistically significant difference between the vestibular depth preoperatively and postoperatively. CONCLUSION: A pedicled buccal periosteal flap is a novel technique for oroantral fistula closure as it preserves vestibular depth with a tension-free closure flap and harbors the advantages of the regenerative potential of the periosteum. REGISTRATION DATE: 14/8/2023 REGISTRATION NUMBER: NCT05987943.


Asunto(s)
Fístula , Fístula Oroantral , Humanos , Fístula Oroantral/cirugía , Tejido Adiposo , Colgajos Quirúrgicos/cirugía , Seno Maxilar/cirugía
2.
Pediatr Surg Int ; 40(1): 112, 2024 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-38656340

RESUMEN

PURPOSE: This study aims to evaluate different surgical approaches to long-gap esophageal atresia (LGEA) with or without tracheoesophageal fistula (TEF) is unclear. METHODS: A systematic literature review was done comparing gastric transposition versus esophageal lengthening with delayed primary anastomosis in infants with LGEA+/-TEF. The primary outcome was time to full oral feeds. Secondary outcomes were time to full enteric feeds, need for further surgery, growth, mortality, and postoperative adverse events. RESULTS: No comparative studies were found. However, the literature was re-interrogated for non-comparative studies. Four hundred thirty-eight articles were identified and screened, and 18 met the inclusion criteria. All were case series. Forty-three infants underwent gastric transposition, and 106 had esophageal lengthening with delayed primary anastomosis. One study on gastric transposition reported time to full oral feeds, and one study in each group reported growth. Time to full enteric feeds was reported in one study in each group. 30% of infants had further surgery following gastric transposition, including hiatus hernia repair (5/43, 12%) and esophageal dilation (7/43, 16%). Following esophageal lengthening, 62/106 (58%) had anti-reflux surgery, 58/106 (55%) esophageal dilatation and 11/106 (10%) esophageal stricture resection. Anastomotic complications occurred in 13/43 (30%), gastrointestinal in 16/43 (37%), respiratory in 17/43 (40%), and nerve injury in 2/43 (5%) of the gastric transposition group. In the esophageal lengthening group, anastomotic complications occurred in 68/106 (64%), gastrointestinal in 62/106 (58%), respiratory in 6/106 (6%), and none sustained nerve injury. Each group had one death due to a cause not directly related to the surgical procedure. CONCLUSIONS: This systematic review highlights the morbidity associated with both surgical procedures and the variety in reporting outcomes.


Asunto(s)
Anastomosis Quirúrgica , Atresia Esofágica , Esófago , Atresia Esofágica/cirugía , Humanos , Anastomosis Quirúrgica/métodos , Esófago/cirugía , Recién Nacido , Fístula Traqueoesofágica/cirugía , Estómago/cirugía , Resultado del Tratamiento
3.
Med ; 2024 Apr 18.
Artículo en Inglés | MEDLINE | ID: mdl-38663404

RESUMEN

BACKGROUND: Crohn's disease complicated by perianal fistulae is more prevalent and severe in patients of African ancestry. METHODS: We profiled single cells from diverse patients with Crohn's disease with perianal fistula from colorectal mucosa and fistulous tracts. Immunofluorescence was performed to validate predicted cell-cell interactions. Unstimulated monocytes were chronically cultured in diverse cohorts. A subset was analyzed by single-nucleus RNA + ATAC sequencing. FINDINGS: Fistulous tract cells from complete proctectomies demonstrated enrichment of myeloid cells compared to paired rectal tissues. Ligand-receptor analysis highlights myeloid-stromal cross-talk and cellular senescence, with cellular co-localization validated by immunofluorescence. Chitinase-3 like-protein-1 (CHI3L1) is a top upregulated gene in stromal cells from fistulae expressing both destructive and fibrotic gene signatures. Monocyte cultures from patients of African ancestry and controls demonstrated differences in CHI3L1 and oncostatin M (OSM) expression upon differentiation compared to individuals of European ancestry. Activating protein-1 footprints are present in ATAC-seq peaks in stress response genes, including CHI3L1 and OSM; genome-wide chromatin accessibility including JUN footprints was observed, consistent with reported mechanisms of inflammatory memory. Regulon analyses confirm known cell-specific transcription factor regulation and implicate novel ones in fibroblast subsets. All pseudo-bulked clusters demonstrate enrichment of genetic loci, establishing multicellular contributions. In the most significant African American Crohn's genetic locus, upstream of prostaglandin E receptor 4, lymphoid-predominant ATAC-seq peaks were observed, with predicted RORC footprints. CONCLUSIONS: Population differences in myeloid-stromal cross-talk implicate fibrotic and destructive fibroblasts, senescence, epigenetic memory, and cell-specific enhancers in perianal fistula pathogenesis. The transcriptomic and epigenetic data provided here may guide optimization of promising mesenchymal stem cell therapies for perianal fistula. FUNDING: This work was supported by grants U01DK062422, U24DK062429, and R01DK123758.

4.
Artículo en Inglés | MEDLINE | ID: mdl-38665114

RESUMEN

Prompt medical attention is crucial for congenital intracranial vascular malformations in children and newborns due to potential severe outcomes. Imaging is pivotal for accurate identification, given the diverse risks and treatment strategies. This article aims to enhance the identification and understanding of congenital intracranial vascular abnormalities including arteriovenous malformation, arteriovenous fistula, cavernous malformation, capillary telangiectasia, developmental venous anomaly, and sinus pericranii in pediatric patients.

5.
Cureus ; 16(3): e56398, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38633956

RESUMEN

A coronary artery aneurysm (CAA) denotes a localized dilation of the coronary artery, while a coronary artery fistula signifies an aberrant connection between a coronary artery and a cardiac chamber or adjacent vessel. Here, we present a case study of a 68-year-old female with a previously diagnosed right coronary artery-to-right atrial fistula concomitant with multiple right coronary artery aneurysms. Initially asymptomatic, the patient subsequently manifested atrial fibrillation. Management involved augmenting the patient's home regimen with metoprolol tartrate, followed by successful cardioversion and restoration of sinus rhythm. Given the stability of the fistula and the absence of symptomatic exacerbation, no further interventional measures were undertaken. The patient was discharged with an adjusted metoprolol regimen and scheduled follow-up with her cardiologist. Subsequent imaging assessments unveiled progressive fistula expansion alongside the development of concurrent CAA, inciting deliberations concerning optimal treatment modalities.

6.
J Cardiothorac Surg ; 19(1): 193, 2024 Apr 09.
Artículo en Inglés | MEDLINE | ID: mdl-38594763

RESUMEN

In this case report, we present the unique and intriguing case of a 57-year-old man who experienced exertional palpitations and shortness of breath for 5 years. He was diagnosed with idiopathic heart failure three years ago, leading to diuretic treatment. Physical examination revealed notable left lower extremity swelling, severe varicose veins, and cardiac murmurs. Echocardiography showed significant cardiac enlargement and severe functional mitral and tricuspid valve regurgitation. Computed tomography (CT) imaging uncovered a 10 mm left common iliac arteriovenous fistula, causing abnormal early filling of the inferior vena cava (IVC) and marked IVC dilation. Open surgical repair of the arteriovenous fistula resulted in symptom relief and improved cardiac function. This case underscores the importance of considering unusual causes in heart failure patients and highlights the value of early diagnosis and intervention in complex cardiac-vascular interactions.


Asunto(s)
Fístula Arteriovenosa , Derivación Arteriovenosa Quirúrgica , Insuficiencia Cardíaca , Insuficiencia de la Válvula Tricúspide , Humanos , Masculino , Persona de Mediana Edad , Fístula Arteriovenosa/diagnóstico por imagen , Fístula Arteriovenosa/etiología , Ecocardiografía , Insuficiencia Cardíaca/cirugía , Insuficiencia Cardíaca/complicaciones , Insuficiencia de la Válvula Tricúspide/cirugía , Vena Cava Inferior/diagnóstico por imagen , Vena Cava Inferior/cirugía
7.
J Int Med Res ; 52(4): 3000605241245269, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38635897

RESUMEN

Bronchopleural fistula (BPF) is a potentially fatal complication and remains a surgical challenge. Concomitant problems, such as pulmonary infection and respiratory failure, are typically the main contributors to mortality from BPF because of improper contact between the bronchial and pleural cavity. We present the case of a 75-year-old male patient with a history of right upper lobe lung cancer resection who developed complex BPFs. Following appropriate antibiotic therapy and chest tube drainage, we treated the fistulas using endobronchial valve EBV placement and local argon gas spray stimulation. Bronchoscopic treatment is the preferred method for patients who cannot tolerate a second surgery because it can help to maximize their quality of life. Our treatment method may be a useful reference for treating complex BPF.


Asunto(s)
Fístula Bronquial , Enfermedades Pleurales , Masculino , Humanos , Anciano , Calidad de Vida , Broncoscopía/efectos adversos , Fístula Bronquial/diagnóstico por imagen , Fístula Bronquial/etiología , Fístula Bronquial/cirugía , Enfermedades Pleurales/diagnóstico por imagen , Enfermedades Pleurales/etiología , Enfermedades Pleurales/cirugía , Antibacterianos/uso terapéutico
8.
CVIR Endovasc ; 7(1): 37, 2024 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-38639830

RESUMEN

BACKGROUND: Renal arteriovenous fistula (RAVF) is a rare vascular malformation, which can be asymptomatic or may cause hemorrhage, hypokalaemic hypertension, heart failure and hematuria. Endovascular embolization is a minimally invasive method which can preserve renal parenchyma. In our case, balloon assisted coil embolization with simultaneous transvenous and transarterial approach was used. A remodelling balloon, which is routinely used in neurovascular procedures, was chosen in order to eliminate the risk of coil migration and preserve feeding artery and renal parenchyma. CASE PRESENTATION: We present a case of successful balloon - assisted coil embolization of a high flow renal arteriovenous fistula in a 25-year-old male patient via simultaneous transarterial and transvenous approach with preservation of the feeding artery. CONCLUSION: Endovascular embolisation is a safe and effective treatment of RAVFs with low risk of complications. Simultaneous transarterial and transvenous coil deployment with the use of a flow control balloon catheter can eliminate the risk of coil migration and coil protrusion into the parent artery with permanent RAVF occlusion and renal parenchyma preservation.

9.
Cureus ; 16(3): e56837, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38654782

RESUMEN

Laryngeal atresia is a rare congenital condition that presents with hypoxia and failed intubation attempts at birth. When diagnosed prenatally, options exist to obtain airway access during delivery. However, postnatal diagnosis requires a high degree of clinical suspicion and the prompt initiation of surgical airway management in order to avoid morbidity and mortality.

10.
Cureus ; 16(3): e56898, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38659534

RESUMEN

Amyand's hernia is defined as the presence of an appendix contained within an inguinal hernia. An inguinal hernia is the protrusion of a small or large bowel through a peritoneal defect of the groin. In rare cases, the appendix can become incarcerated or strangulated within the hernia, cutting off the blood supply to the organ. If incarcerated, the appendix is at risk for strangulation, which can lead to rupture and cause worsening of symptoms and/or collapse. We report a case of a 76-year-old male with a history of inguinal hernia repair 30 years prior, who presented with 30 days of intermittent right lower quadrant pain and unintentional weight loss. He required emergent treatment and management. This case underscores the challenge of diagnosing concurrent inguinal hernia and appendicitis and places an emphasis on timely intervention. Treatment options vary based on the appendix's apparent condition within the hernia sac. Despite the complications, including additional drainage site and enterocutaneous fistula, the patient was discharged in stable condition. This case contributes insights into managing complex inguinal pathologies, particularly in the geriatric population.

11.
J Vasc Bras ; 23: e20230133, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38659617

RESUMEN

Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia, is an autosomal dominant hereditary disorder. It is characterized by presence of multiple arteriovenous malformations (AVMs) and telangiectasias. This article reports two cases of patients with Rendu-Osler-Weber syndrome who had pulmonary AVMs and underwent successful endovascular treatment. A brief review of the literature shows that up to 50% of patients with the syndrome have pulmonary AVMs and there is usually a positive family history in these patients. These pulmonary AVMs are multiple in 30% of cases and are associated with the most severe disease complications. Most patients are asymptomatic, even in the presence of AVMs with right-left shunts. When these shunts exceed 25% of the total blood volume, dyspnea, cyanosis, digital clubbing, and extracardiac murmurs may occur. Endovascular treatment is safe and offers control of complications from hereditary hemorrhagic telangiectasia and is currently the treatment of choice for these lesions.

12.
World J Clin Cases ; 12(10): 1714-1717, 2024 Apr 06.
Artículo en Inglés | MEDLINE | ID: mdl-38660082

RESUMEN

Central venous catheter insertion in the internal jugular vein (IJV) is frequently performed in acute care settings, facilitated by its easy availability and increased use of ultrasound in healthcare settings. Despite the increased safety profile and insertion convenience, it has complications. Herein, we aim to inform readers about the existing literature on the plethora of complications with potentially disastrous consequences for patients undergoing IJV cannulation.

13.
World J Clin Cases ; 12(10): 1778-1784, 2024 Apr 06.
Artículo en Inglés | MEDLINE | ID: mdl-38660078

RESUMEN

BACKGROUND: Rectocutaneous fistulae are common. The infection originates within the anal glands and subsequently extends into adjacent regions, ultimately resulting in fistula development. Cellular angiofibroma (CAF), also known as an angiomyofibroblastoma-like tumor, is a rare benign soft tissue neoplasm predominantly observed in the scrotum, perineum, and inguinal area in males and in the vulva in females. We describe the first documented case CAF that developed within a rectocutaneous fistula and manifested as a perineal mass. CASE SUMMARY: In the outpatient setting, a 52-year-old male patient presented with a 2-year history of a growing perineal mass, accompanied by throbbing pain and minor scrotal abrasion. Physical examination revealed a soft, well-defined, non-tender mass at the left buttock that extended towards the perineum, without a visible opening. The initial assessment identified a soft tissue tumor, and the laboratory data were within normal ranges. Abdominal and pelvic computed tomography (CT) revealed swelling of the abscess cavity that was linked to a rectal cutaneous fistula, with a track-like lesion measuring 6 cm × 0.7 cm in the left perineal region and attached to the left rectum. Rectoscope examination found no significant inner orifices. A left medial gluteal incision revealed a thick-walled mass, which was excised along with the extending tract, and curettage was performed. Histopathological examination confirmed CAF diagnosis. The patient achieved total resolution during follow-up assessments and did not require additional hospitalization. CONCLUSION: CT imaging supports perineal lesion diagnosis and management. Perineal angiofibromas, even with a cutaneous fistula, can be excised transperineally.

14.
Int Wound J ; 21(4): e14706, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38660912

RESUMEN

To analyse the risk factors and healing factors of pharyngocutaneous fistula (PCF) in patients with laryngeal cancer after total laryngectomy, and to explore the relevant epidemiology. A retrospective analysis was conducted on laryngeal cancer patients who underwent total laryngectomy in our hospital from January 2010 to December 2022. The 349 patients included in the study were divided into a PCF group of 79 and a non-PCF group of 270. Perform one-way analysis of variance and multivariate logistic analysis on various data of patients included in the statistics, and analyse the risk factors and healing factors of PCF. Smoking, history of radiation therapy for laryngeal cancer, history of chemotherapy for laryngeal cancer, tumour location (larynx, pharynx, oesophagus), preoperative albumin, postoperative proteinaemia, <99 haemoglobin, postoperative haemoglobin, postoperative C-reactive protein (CRP) level are the risk factors for PCF. Also, radiation therapy and postoperative proteinaemia were the main reasons for preventing PCF healing. Smoking history, laryngeal cancer, radiation therapy, albumin, haemoglobin and CRP are risk factors for postoperative PCF after total laryngectomy, while radiation therapy and postoperative hypoalbuminaemia are key factors affecting PCF healing.


Asunto(s)
Fístula Cutánea , Neoplasias Laríngeas , Laringectomía , Enfermedades Faríngeas , Complicaciones Posoperatorias , Humanos , Laringectomía/efectos adversos , Neoplasias Laríngeas/cirugía , Masculino , Femenino , Persona de Mediana Edad , Factores de Riesgo , Estudios Retrospectivos , Fístula Cutánea/etiología , Fístula Cutánea/epidemiología , Anciano , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Enfermedades Faríngeas/etiología , Enfermedades Faríngeas/epidemiología , Cicatrización de Heridas , Adulto
15.
J Craniovertebr Junction Spine ; 15(1): 123-126, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38644911

RESUMEN

Neurofibromatosis-1 (NF1) presents complex challenges due to its multisystemic effects, including kyphoscoliosis, dural ectasia, and arteriovenous fistulas (AVF). We present a case of a 31-year-old male with NF1 exhibiting severe cervical kyphoscoliosis, dural ectasia, a bisected cervical cord, and an arteriovenous fistula, highlighting the intricacies of managing such intricate cases. Rapid weakening in the patient's right arm and leg prompted imaging revealing severe cervical kyphotic deformity and a dural fold dividing the spinal cord. Surgical intervention addressed a high-flow arteriovenous fistula involving the right vertebral artery and an epidural vein, necessitating sacrifice of the artery. Posterior fusion and laminectomy were performed, resulting in stable neurological status postoperatively and significant improvement in sensory loss and weakness at three months. This case underscores the importance of a tailored posterior-only approach, involving dural fold release, to allow the spinal cord to relocate to a less tense position, thus demonstrating effective decompression in complex NF1 cases with concurrent kyphotic deformity and vertebral artery AVF.

16.
J Clin Orthop Trauma ; 51: 102405, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38645399

RESUMEN

Synovial fistulae associated with large defects in capsulo-synovial envelope have been reported rarely, mostly after surgeries or infections. Unlike post arthroscopy synovial fistulae, which may be treated with immobilisation with or without direct repair, surgical obliteration of defect and track is essential for healing of such synovial fistulae. Technical aspect of obliteration emphasized in literature is watertight tensionless closure of the defect. We report surgical technique of closure of one such synovial fistula with Free Fascia Lata Graft with an inbuilt valve mechanism to reduce chances of recurrence. Watertightness of closure was demonstrated intraoperatively by instilling saline under pressure in the joint. Healing of free fascia lata graft with capsular tissue with valve mechanism persistently demonstrable at a follow up of more than three year is shown.

17.
Int J Womens Health ; 16: 645-653, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38645984

RESUMEN

Purpose: The aim of this study was to assess quality of life (QoL) using the WHOQOL-BREF questionnaire among obstetric fistula (OF) patients before and after surgical repair of OF (SROF). Methods: A longitudinal cohort study was conducted between November 2022 and October 2023 in the Democratic Republic of the Congo (DRC) among OF patients to assess their QoL before and after SROF. A systematic sampling technique was used to recruit a total of 158 OF patients. The WHOQOL-BREF questionnaire assessed general health, life experience, as well as physical, social, psychological, and environmental domains. Results: The mean age among the 158 respondents was 33.51 ± 9.63 years, and 77.85% of them lived in rural areas. In terms of surgical outcomes, 80.38% had closure of the OF with regained continence, 5.7% had closure of the OF with persistent incontinence, and 13.9% had a failed surgical repair. Overall mean QoL scores were higher after OF surgical repair (3.83, standard deviation [SD]=0.89) in comparison to pre-operative (1.58, SD=0.63) (p<0.001). These QoL improvements included physical (mean score 66.32 post-surgery versus 28.37 before, p<0.001), social (mean score 64.92 post-surgery versus 27.90 before, p<0.001), psychological (mean score 68.09 post-surgery versus 21.28 before, p<0.001), environmental (mean score 48.41 post-surgery versus 16.91 before p<0.001), and general domains. Patients with a successful OF repair had a better QoL score than those with a closed fistula but ongoing incontinence or those for whom surgery failed to close the fistula. Conclusion: The present study showed that among OF patients, all QoL domains were impaired before surgical repair and significantly improved after surgery. Successful OF closure alleviates the consequences of OF and helps to restore patients' wellbeing. Our findings call for improved access to high-quality surgical repair services as a fundamental right for OF patients.

18.
Clin Exp Gastroenterol ; 17: 97-108, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38646156

RESUMEN

Background: Many rectovaginal fistulas(RVF), especially low RVF, do not involve/penetrate the RV-septum, but due to lack of proper nomenclature, such fistulas are also managed like RVF (undertaking repair of RV-septum) and inadvertently lead to the formation of a high RVF (involving RV-septum) in many cases. Therefore, REctovaginal Fistulas, Not Involving the Rectovaginal Septum, should be Treated like Anal fistulas(RENISTA) to prevent any risk of injury to the RV septum. This concept(RENISTA) was tested in this study. Methods: RVFs not involving RV-septum were managed like anal fistulas, and the RV-septum was not cut/incised. MRI, objective incontinence scoring, and anal manometry were done preoperatively and postoperatively. High RVF (involving RV-septum) were excluded. Results: Twenty-seven patients with low RVF (not involving RV-septum) were operated like anal fistula[age:35.2±9.2 years, median follow-up-15 months (3-36 months)]. 19/27 were low fistula[<1/3 external anal sphincter(EAS) involved] and fistulotomy was performed, whereas 8/27 were high fistula (>1/3 EAS involved) and underwent a sphincter-sparing procedure. Three patients were excluded. The fistula healed well in 22/24 (91.7%) patients and did not heal in 2/24 (8.3%). The healing was confirmed on MRI, and there was no significant change in mean incontinence scores and anal pressures on tonometry. RV-septum injury did not occur in any patient. Conclusions: RVF not involving RV-septum were managed like anal fistulas with a high cure rate and no significant change in continence. RV-septum injury or formation of RVF with septum involvement did not occur in any patient. The RENISTA concept was validated in the present study. A new classification was developed to prevent any inadvertent injury to the RV-septum.

19.
Front Neurol ; 15: 1347289, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38651102

RESUMEN

Introduction: Mutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies. Its phenotypic spectrum includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome, autism spectrum disorders (ASD), some sporadic cancers, Lhermitte-Duclos disease (LDD), and various types of associated vascular anomalies. Clinical presentation: A previously healthy 27-year-old woman was experiencing visual scintillating scotomas and mild chronic headaches for the past 2 years. The initial computed tomographic (CT) and magnetic resonance imaging (MRI) scans did not reveal any abnormalities, but the possibility of pseudotumor cerebri was considered. Furthermore, a cerebral angiogram showed a posterior fossa dural arteriovenous fistula (dAVF), which was initially treated through embolization. However, in spite of proper treatment, this patient experienced multiple recurrent dAVFs in different locations, requiring multiple embolizations and surgeries. Despite exhibiting altered cerebral perfusion and hemodynamics, the patient did not display any significant symptoms until she experienced a sudden stroke resulting from deep venous thrombosis, which was not associated with any medical procedures or medication use. A comprehensive analysis was performed due to the aggressive nature of the dAVFs. Surprisingly, exome sequencing of a blood sample revealed a PTEN gene variant in chromosome 10, indicative of Cowden syndrome. However, no tumors or other vascular lesions were detected in other systems that would constitute Cowden syndrome. Conclusion: The rapid formation of multiple and complex dAVFs, coupled with not meeting the criteria for any other PTEN-related syndrome, unequivocally leads to the presentation of a novel phenotype of the PTEN germline variant.

20.
J Cardiovasc Dev Dis ; 11(4)2024 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-38667718

RESUMEN

A sinus of valsalva aneurysm (SVA) is an asymmetrical dilatation of the aortic root located between the aortic valve anulus and the sino-tubular junction. Congenital weakness of the elastic lamina in the aortic media layer or trauma and infection as acquired events are the most principal causes of SVA. Presentation may be acute when rupture has occurred or SVA may be discovered fortuitously on echocardiography or CT scan when patients are examined because of unspecific chest pains, dyspnea or arrhythmias. Although endovascular treatment has been performed successfully in individual cases, surgical closure of the aneurysm aiming at preservation of the aortic valve whenever possible is the established procedure. This short report emphasizes the fact that individual treatment is required when SVA need to be operated, depending on the presentation, the location and the size of the finding. Surgery may consist of simple patch closure, bilateral tunnel closure (entry and exit) or more radical operation like Bentall in case the whole aortic root should be addressed. Overall results are excellent, independently of the clinical presentation (acute or elective) with a mortality approaching zero.

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