Familial Intracranial Dural Arteriovenous Fistulas

Neurosurgery ◽  
2012 ◽  
Vol 72 (2) ◽  
pp. E310-E313 ◽  
Author(s):  
Josiah N. Orina ◽  
David J. Daniels ◽  
Giuseppe Lanzino
Keyword(s):  
Sinus Thrombosis ◽  
Prothrombin G20210a ◽  
Type I ◽  
Pulsatile Tinnitus ◽  
Laboratory Studies ◽  
Arteriovenous Fistulas ◽  
First Degree Relatives ◽  
G20210a Mutation ◽  
Dural Arteriovenous Fistulas ◽  
History Of

Abstract BACKGROUND AND IMPORTANCE: Intracranial dural arteriovenous fistulas (DAVFs) are acquired abnormal communications between dural arteries and veins. Risk factors for development include sinus thrombosis and hypercoagulability, such as occurs in heritable thrombophilias. While there have been reports of other types of vascular anomalies (such as cavernous and arteriovenous malformations) occurring in families, to our knowledge there have been no reports of familial intracranial DAVFs. We describe the first 2 cases of intracranial DAVFs occurring in first-degree relatives. CLINICAL PRESENTATION: A 66-year-old woman presented with an 18-month history of bilateral pulsatile tinnitus. Neurological examination was significant for a prominent pulsatile bruit over the left mastoid region. Laboratory studies demonstrated heterozygosity for Prothrombin G20210A mutation. Imaging disclosed a large left Type I Borden DAVF involving the distal transverse-sigmoid sinus junction. She underwent uncomplicated stereotactic radiosurgery to the fistula that led to complete resolution of her tinnitus and the fistula. A 73-year-old woman, the sister of the previous patient, presented with a 24-month history of pulsatile tinnitus affecting the left ear. Laboratory studies demonstrated heterozygosity for the Prothrombin G20210A mutation. Imaging revealed a left Type I Borden DAVF involving the left transverse and sigmoid sinuses. The patient's symptoms resolved spontaneously without treatment. Repeat imaging revealed interval involution of the fistula. CONCLUSION: We describe 2 sisters who were heterozygous for Prothrombin G20210A mutation and found to have DAVFs. Clinicians should be aware of the potential for these fistulas to congregate in first-degree relatives via heritable thrombophilias such as the Prothrombin G20210A mutation.

scholarly journals Transarterial Wedged-catheter, Flow-arrest, N-butyl Cyanoacrylate Embolization of Three Dural Arteriovenous Fistulae in a Single Patient

2003 ◽  
Vol 9 (3) ◽  
pp. 283-290 ◽  
Author(s):  
S.M. Russell ◽  
H.H. Woo ◽  
P. K. Nelson
Keyword(s):  
Sinus Thrombosis ◽  
Memory Loss ◽  
Venous Drainage ◽  
Venous Access ◽  
Single Patient ◽  
Arteriovenous Fistulas ◽  
Unsteady Gait ◽  
Dural Arteriovenous Fistulas ◽  
History Of ◽  
Cortical Venous Drainage

The pathogenesis of dural arteriovenous fistulas (DAVFs) is currently unknown, with multiple DAVFs being rare. For patients with limited venous access secondary to sinus thrombosis, or for patients where parent sinus occlusion would not be tolerated, transvenous embolization may not be possible and other treatment methods must be considered. A 69-year-old female patient with a two-year history of progressive headaches, memory loss, and unsteady gait underwent cerebral angiography that revealed three separate DAVFs with congested cortical venous drainage overlying both frontal lobes. Using an application of a transarterial wedged-catheter, flow-arrest technique, N-butyl cyanoacrylate was deposited across all three pathologic arteriovenous connections providing a definitive cure. Transarterial NBCA embolization may provide curative treatment of DAVFs, and is of particular utility in situations where access to the draining venous structures is limited.

Clinical and Laboratory Management of the Prothrombin G20210A Mutation

2002 ◽  
Vol 126 (11) ◽  
pp. 1319-1325 ◽  
Author(s):  
Ronald C. McGlennen ◽  
Nigel S. Key
Keyword(s):  
Significant Risk ◽  
Factor V Leiden ◽  
Initial Assessment ◽  
Prothrombin G20210a ◽  
Factor V Leiden Mutation ◽  
Published Evidence ◽  
G20210a Mutation ◽  
Key Points ◽  
Prothrombin Mutation ◽  
History Of

Abstract Objective.—To make recommendations regarding the appropriate evaluation for the prothrombin G20210A mutation, as reflected by published evidence and the consensus opinion of recognized experts in the field. Data Sources.—Review of the medical literature, primarily since 1996. Data Extraction and Synthesis.—After an initial assessment of the literature, key points defining the condition, and review of the clinical study design, a draft manuscript was prepared and circulated to every participant in the College of American Pathologists Conference on Diagnostic Issues in Thrombophilia before the meeting. Each of the key points and associated recommendations were then presented for discussion at the conference. Recommendations were accepted if a consensus of 70% of experts attending the conference was reached. The results of the discussion were used to revise the manuscript into its final form. Conclusions.—Consensus was reached on several recommendations concerning the criteria for testing for the prothrombin G20210A mutation and for the method of testing. First, a major point of consensus was that the prothrombin G20210A mutation is a significant risk factor for venous thromboembolism (VTE) and that testing should be considered in the initial evaluation of suspected inherited thrombophilia. Second, although several analytic methods are commonly used for genetic testing for the prothrombin mutation, all are generally robust and reliable. The recommendations for testing for the prothrombin mutation parallel those for the factor V Leiden mutation and include patients with a history of recurrent VTE, a first episode of VTE before the age of 50 years, a history of an unprovoked VTE at any age, thromboses in unusual anatomic sites, or an affected first-degree relative with VTE. A history of VTE related to pregnancy or estrogen use and unexplained pregnancy loss during the second or third trimesters were also considered to be indications for testing. Other scenarios remain controversial or not recommended, including general population screening.

The Association Between Parameters of Erythrocytes Morphology and Thrombophilia-Related Mutations

2021 ◽  
Vol 16 ◽  
Author(s):  
Ozlem Oz ◽  
Ataman Gonel
Keyword(s):  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Cross Sectional ◽  
Factor V Leiden Mutation ◽  
Erythrocyte Morphology ◽  
Mthfr A1298c ◽  
G20210a Mutation ◽  
History Of

Background: Alterations in erythrocyte morphology parameters have been identified and associated with hematological disorders and other chronic and cardiovascular diseases. Erythrocytes are abundant in thrombus content. Their hemoglobin density and differences in the ratio of macrocytic and microcytic cells may be associated with hypercoagulopathy in those with a history of thrombosis. Objective: This cross-sectional study aimed to investigate the relationship between hemogram parameters and thrombophilia genetic parameters. Method: A total of 55 patients whose thrombophilia panel was reviewed due to the diagnosis of thrombosis were included in the study. %MIC, %MAC, %HPO, %HPR and all hemogram parameters were measured using Abbott Alinity HQ. Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, Factor V Leiden G169A and PAI-1 4G/5G mutations were studied using Real Time-PCR. Results: The MTHFR C677T mutation was detected in 58.2% of the patients. The Factor V Leiden mutation was detected in 5.5% of the patients. The MTHFR A1298C mutation was detected in 58.2%, The PAI mutation was detected in 74.5%, and the Factor 13 mutation was detected in 29% of the patients. Prothrombin G20210A mutation was not detected in any of the patients. Red blood cell (RBC) and Hct values were higher in Factor 13 mutant group; the Hgb and Htc values were higher in the MTHFR C677T mutant group. Conclusion: The MTHFR C677T and Factor 13 mutations may be associated with high Hct and RBC, Hgb, and Htc values, respectively and coagulation tendency in patients with a history of thrombosis.

Transvenous embolization of a posterior condylar canal fistula causing pulsatile tinnitus

2020 ◽  
pp. neurintsurg-2020-016280
Author(s):  
Waleed Brinjikji ◽  
Giuseppe Lanzino ◽  
Harry J Cloft
Keyword(s):  
Skull Base ◽  
Motor Vehicle ◽  
Motor Vehicle Accident ◽  
Treatment Decision ◽  
Occipital Artery ◽  
Pulsatile Tinnitus ◽  
Transvenous Embolization ◽  
Arteriovenous Fistulas ◽  
Dural Arteriovenous Fistulas ◽  
Posterior Condylar

Dural arteriovenous fistulas of the skull base commonly present with pulsatile tinnitus. In our experience, transvenous embolization of dural arteriovenous fistulas of the skull base represents a safe and effective treatment modality due to its precision in treatment of the site of convergence of all feeding arteries and the low risk of ischemic complications. We present a case of an adult patient who presented to our institution with pulsatile tinnitus several months following a motor vehicle accident. Cerebral angiography demonstrated a dural arteriovenous fistula at the junction of the posterior condylar vein and suboccipital venous plexus supplied by branches of the vertebral artery, occipital artery, and ascending pharyngeal artery. In this operative video we demonstrate this technique and provide an in-depth discussion of our treatment decision-making process and the anatomical considerations involved in treating this lesion.

Dural arteriovenous fistulas masquerading as dural sinus thrombosis

2009 ◽  
Vol 110 (3) ◽  
pp. 514-517 ◽  
Author(s):  
Scott Simon ◽  
Tom Yao ◽  
Arthur J. Ulm ◽  
Benjamin P. Rosenbaum ◽  
Robert A. Mericle
Keyword(s):  
Sinus Thrombosis ◽  
Noninvasive Imaging ◽  
Anticoagulation Therapy ◽  
Transverse Sinus ◽  
Dural Sinus ◽  
Dural Sinus Thrombosis ◽  
Venous Flow ◽  
Arteriovenous Fistulas ◽  
Imaging Results ◽  
Dural Arteriovenous Fistulas

The authors report dural sinus thrombosis diagnosed in 2 patients based on noninvasive imaging results, which were revealed to be dural arteriovenous fistulas (DAVFs) diagnosed using digital subtraction (DS) angiography. The first patient was a 63-year-old man who presented with headaches. Magnetic resonance venography was performed and suggested dural sinus thrombosis of the left transverse sinus and jugular vein. He was administered warfarin anticoagulation therapy but then suffered multiple intracranial hemorrhages. A DS angiogram was requested for a possible dural sinus thrombectomy, but the DS angiogram revealed a DAVF. The patient underwent serial liquid embolization with complete obliteration of the DAVF. The second patient, an 11-year-old boy, also presented with headaches and was diagnosed with dural sinus thrombosis on MR imaging. A DS angiogram was also requested for a possible thrombectomy and revealed a DAVF. This patient underwent serial liquid embolization and eventual operative resection. These reports emphasize that different venous flow abnormalities can appear similar on noninvasive imaging and that proper diagnosis is critical to avoid contraindicated therapies.

scholarly journals Spontaneous Subdural Hematoma and Behavioral Changes Due to a Dural Arteriovenous Fistula. A Case Report and Literature Review

2019 ◽  
Vol 9 (6) ◽  
pp. 63
Author(s):  
Zenaida Milagros Hernández-Díaz ◽  
Juan Carlos Llíbre-Guerra ◽  
Marianela Arteche-Prior ◽  
Tania de la Paz-Bermúdez ◽  
Angel Francisco Águila-Ruiz ◽  
...  
Keyword(s):  
Subdural Hematoma ◽  
Behavioral Changes ◽  
Intracranial Arteriovenous Malformations ◽  
Behavioral Disturbances ◽  
Arteriovenous Fistulas ◽  
Diffuse White Matter ◽  
Dural Arteriovenous Fistulas ◽  
History Of ◽  
First Time ◽  
Venous Ischemia

Dural arteriovenous fistulas (DAVFs) represent 10–15% of intracranial arteriovenous malformations. Of these, only 12–29% cause intracranial hemorrhage. The presentation of DAVF as a subdural hematoma (SDH) and intraparenchymal hemorrhage (IPH) is infrequent; additionally, behavioral changes are not common among these patients. We report, for the first time in our country, the case of a 23-year-old man with no history of head injury, in which a brain computed tomography (CT) scan revealed SDH and IPH with behavioral disturbances. The angiotomography showed ecstatic venous vessels, indicating the presence of a DAVF, which was later confirmed by cerebral angiography. Endovascular therapy, which followed the clinical diagnosis, resulted in satisfactory evolution two years after treatment. A review of the literature concerning cases with DAVF and behavioral disturbances is presented. DAVF may lead to cognitive impairment, behavioral changes, and dementia as a result of diffuse white matter and thalamus modifications related to venous ischemia, and it should be considered as a reversible cause of vascular dementia.

scholarly journals Open and endovascular treatment of spinal dural arteriovenous fistulas: a 10-year experience

2017 ◽  
Vol 26 (4) ◽  
pp. 519-523 ◽  
Author(s):  
Matthew J. Koch ◽  
Christopher J. Stapleton ◽  
Pankaj K. Agarwalla ◽  
Collin Torok ◽  
John H. Shin ◽  
...  
Keyword(s):  
Vascular Malformations ◽  
Management Strategies ◽  
Case Series ◽  
Endovascular Embolization ◽  
Definitive Treatment ◽  
Type I ◽  
Arteriovenous Fistulas ◽  
Presenting Symptoms ◽  
Dural Arteriovenous Fistulas ◽  
Spinal Dural Arteriovenous Fistulas

OBJECTIVE Vascular malformations of the spine represent rare clinical entities with profound neurological implications. Previously reported studies on management strategies for spinal dural arteriovenous fistulas (sDAVFs) appeared before the advent of modern liquid embolic agents. Authors of the present study review their institutional experience with endovascularly and surgically treated sDAVFs. METHODS The authors performed a retrospective, observational, single-center case series on sDAVFs treated with endovascular embolization, microsurgical occlusion, or both between 2004 and 2013. The mode, efficacy, and clinical effect of treatment were evaluated. RESULTS Forty-seven patients with spinal arteriovenous malformations were evaluated using spinal angiography, which demonstrated 34 Type I sDAVFs (thoracic 20, lumbar 12, and cervical 2). Twenty-nine of the patients (85%) were male, and the median patient age was 63.3 years. Twenty patients underwent primary endovascular embolization (16 Onyx, 4 N-butyl cyanoacrylate [NBCA]), and 14 underwent primary surgical clipping. At a mean follow-up of 36 weeks, according to angiography or MR angiography, 5 patients treated with endovascular embolization demonstrated persistent arteriovenous shunting, whereas none of the surgically treated patients showed lesion persistence (p = 0.0237). Thirty patients (88%) experienced some resolution of their presenting symptoms (embolization 17 [85%], surgery 13 [93%], p = 1.00). CONCLUSIONS Microsurgical occlusion remains the most definitive treatment modality for sDAVFs, though modern endovascular techniques remain a viable option for the initial treatment of anatomically amenable lesions. Treatment of these lesions usually results in some clinical improvement.

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