Personalised stroke evaluation and management: tailoring individualised patient care for hereditary haemorrhagic telangiectasia.

SummaryHereditary haemorrhagic telangiectasia (HHT) has an estimated prevalence of 1 in 5000-8000 individuals globally with pulmonary arteriovenous malformations (PAVMs) affecting approximately 15%-50% of HHT patients. Ischaemic stroke is a known complication of PAVMs that affects ≤30% of patients with PAVMs. Studies have shown that patients with PAVMs have ischaemic stroke a decade earlier than routine stroke. The predominant mechanism of ischaemic stroke in HHT patients is paradoxical embolism due to PAVMs, but most HHT-related PAVMs are asymptomatic. Additionally, HHT is often underdiagnosed in patients and poses a challenge to physicians due to its rarity. We present a case of a patient with ischaemic stroke who was subsequently diagnosed with HHT and found to have a PAVM on further evaluation. This case highlights the importance of using an individualised patient-centred stroke evaluation and screening for PAVMs in patients who had a stroke with possible or suspected HHT and definite HHT.

[Ischemic stroke due to paradoxical embolism through pulmonary arteriovenous malformation in a young patient]. / ACV isquémico debido a embolia paradojal a través de malformación arteriovenosa pulmonar en paciente joven.

Paradoxical embolism due to an isolated pulmonary arteriovenous malformation (PAVM) is a rare cause of ischemic stroke. PAVMs are abnormal high-flow connections between pulmonary arteries and veins, diverting deoxygenated blood into the systemic circulation and they represent a less common source of paradoxical embolisms, especially in young individuals. Endovascular embolization is the preferred treatment for clinically significant PAVMs. We present the case of a 34-year-old woman with a left thalamic ischemic stroke. Severe contrast passage was detected in cerebral arteries through transcranial Doppler. Intracardiac ultrasound did not reveal a patent foramen ovale, prompting further investigation with pulmonary CT angiography, confirming the presence of PAVM. The patient underwent successful endovascular treatment. It is essential to consider PAVM in the etiological diagnosis of ischemic stroke, especially in young patients with signs of abnormal right-to-left communication. Periodic follow-up imaging is recommended to assess potential recurrence or changes in PAVM, emphasizing the importance of appropriate management of these malformations.

La embolia paradojal debido a una malformación arteriovenosa pulmonar (MAVP) aislada es una causa infrecuente de accidente cerebrovascular (ACV) isquémico. Las MAVP son conductos anómalos de alta circulación entre arterias y venas pulmonares, desviando sangre desoxigenada hacia la circulación sistémica y representan una fuente menos común de embolias paradojales, especialmente en personas jóvenes. La embolización endovascular es el tratamiento preferido para MAVP clínicamente significativas. Presentamos el caso de una mujer de 34 años con ACV isquémico talámico izquierdo. Se detectó pasaje de burbujas "en cortina" en arterias cerebrales mediante Doppler transcraneal. En ecografía intracardíaca no se encontró foramen oval permeable, motivo por el cual se avanzó con realización de angiotomografía pulmonar, la cual confirmó la presencia de MAVP. La paciente recibió tratamiento endovascular exitoso. Es esencial considerar la MAVP en el diagnóstico etiológico del ACV isquémico, especialmente en pacientes jóvenes con signos de comunicación anormal de derecha a izquierda. Se recomienda un seguimiento periódico mediante imágenes para evaluar la posible recurrencia o cambios en la MAVP, resaltando la importancia del manejo adecuado de estas malformaciones.

Use of Polyurethane-Covered Stents for Exclusion of Pulmonary Arteriovenous Malformations.

PURPOSE: To evaluate the safety, technical success and short-term effectiveness of polyurethane-covered stent (PK Papyrus, BioTronik, Berlin) in the treatment of pulmonary arteriovenous malformations (PAVMs) that are not amenable to embolotherapy. MATERIALS AND METHODS: In this IRB-approved, retrospective study, data from patients who received polyurethane-covered stents for exclusion of PAVMs were analyzed. The study included 5 patients (all women) with a median age of 40 years (range 25-60). Patients presented with hypoxemia, TIAs, and/or epistaxis; 4 were confirmed to have HHT. All had multiple PAVMs diagnosed on chest CT and underwent embolization with other devices in addition to the polyurethane-covered stent. The indication for stent placement in all cases was a short and/or tortuous feeding artery. Safety was assessed by immediate or short-term complications, e.g., migration, stent thrombosis, and fracture. Technical success was defined as the ability to accurately place the stent at the intended location. Effectiveness was defined as successful exclusion of PAVM with no perfusion across the AVM. RESULTS: Technical success of stent placement was 100%. AVM exclusion rate was 80% after single stent deployment; in the case of incomplete exclusion, success was achieved using an overlapping stent to completely cover a second feeding artery. During the median follow-up period of 5 months (range 2-10), all stents remained patent, and AVMs were excluded without other complications. CONCLUSION: Exclusion of PAVMs with polyurethane-covered stents is technically feasible, safe, and shows short-term effectiveness for PAVMs with a short/tortuous feeding artery when traditional embolization techniques are not possible.

[Brain abscess as a complication of pulmonary manifestation of HHT]. / Hirnabszess als Komplikation bei pulmonaler Manifestation einer HHT.

A 43-year-old female patient with a brain abscess and a complicated clinical course was diagnosed with hereditary haemorrhagic telangiectasia (HHT) at the Martin Zeitz Centre for Rare Diseases in Hamburg, Germany. The brain abscess was caused by pulmonary arteriovenous malformations (AVM), a typical finding in HHT. Patients with cryptogenic brain abscess should be screened for pulmonary AVM and HHT. This case report illustrates the importance of patient history and interdisciplinary exchange in patients with a broad clinical spectrum as well as interdisciplinary treatment in the case of complications of rare diseases.

[Episodic bleeding events due to arteriovenous malformation (AVM) in the region of the distal ileum in a young male patient]. / Episodenhafte Blutungsereignisse bei arteriovenöser Malformation (AVM) im Bereich des distalen Ileums beim jungen Patienten.

We report the case of a 32-year-old male patient who presented with episodic, self-limiting gastrointestinal bleeding events. After both esophagogastroduodenoscopy (EGD) and colonoscopy remained unremarkable, capsule endoscopy revealed an unexplained mucosal lesion that presented as an ulcerated process on spiral enteroscopy. Appropriate enteroscopic ink marking was followed by surgical partial resection of the distal ileum, with histopathology revealing evidence of an arteriovenous malformation (AVM). This case emphasizes the importance of deep enteroscopy both in the diagnosis and to facilitate therapeutic resection in rare gastrointestinal bleeding events affecting young people.

Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case series.

High-flow vascular malformations have been associated with multiple syndromes including capillary malformation-arteriovenous malformation (CM-AVM) syndrome, hereditary hemorrhagic telangiectasia syndrome, and less commonly, phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We present a series of three patients with clinically challenging complex AVMs who were found to have underlying PHTS. In all patients, diagnosis was delayed, and the presence of the AVM prompted sampling and genetic testing for PHTS in the absence of other clinical features of the condition. This series highlights the importance of screening for PHTS in the setting of high-flow vascular malformations.

Abnormal uterine bleeding due to uterine arteriovenous malformation in an early adolescent with intrauterine contraceptive device in situ.

We report a case of uterine arteriovenous malformation in an early adolescent who presented with heavy vaginal bleeding 2 months after termination of pregnancy with copper intrauterine contraceptive device (IUCD) insertion. The patient was admitted and had medical treatment, including blood transfusion and subsequently transcatheter embolisation of the arteriovenous malformation to control her bleeding. The IUCD was left in situ. Her symptoms completely resolved by 4 months post-procedure.

Adnexal arteriovenous malformation presenting with spontaneous massive haemoperitoneum.

Arteriovenous malformations (AVMs) are vascular anomalies composed of a tangle of abnormal vessels in which one or more feeding arteries are directly connected to one or more draining veins via a nidus with no intervening capillary bed. The adnexa are particularly rare sites for the formation of such malformations. Here, we present the case of a middle-aged woman who presented with spontaneous massive haemoperitoneum occurring as a result of a ruptured adnexal AVM. The diagnosis was suspected on transabdominal sonography and confirmed on CT angiography. The patient was shifted to the interventional radiology suite for an urgent angioembolisation following which she improved haemodynamically and her symptoms resolved. The case highlights the fact that although exceedingly rare, gonadal AVMs are an important cause of spontaneous intraperitoneal bleeding. Diagnostic and interventional radiology play an important role in the early and accurate diagnosis of this entity, and angioembolisation can be lifesaving in such patients.

Rare Cause of Gastrointestinal Bleeding: A Case Report of Pancreatic Arteriovenous Malformation.

BACKGROUND Arteriovenous malformation is an unusual cause of gastrointestinal bleeding, particularly in the pancreas. A definitive treatment strategy is not yet established. CASE REPORT We present the case of a 37-year-old man with underlying hypertension and no significant family history who presented with a 3-month history of intermittent epigastric pains and unintentional weight loss of 5 kg in 2 months. The upper endoscopy showed a large duodenal ulcer, which was uncontrolled with a standard dose of proton pump inhibitors. An abdominal computed tomography scan with contrast was indicated and revealed an enhanced mass of 2.5×3.5×4 cm in size, located on the second and third parts of the duodenum and head of the pancreas, indicating an arteriovenous malformation. On day 10 of hospitalization, the patient suddenly had melena and a drop of hemoglobin level to 5.6 g/dL; angiography intervention was successful to control the bleeding. However, gastrointestinal bleeding recurred after 2 weeks, and the patient successfully underwent a Whipple procedure. CONCLUSIONS The diagnosis and therapeutic management of arteriovenous malformations are uniquely challenging; therefore, pancreatic arteriovenous malformations should be listed on the differential diagnosis, particularly in those cases with non-healing and large duodenal ulcers. Otherwise, early imaging modalities should be performed to confirm the diagnosis. In particular, angiography can temporarily control bleeding before proceeding with more definitive therapy.

Pulmonary Hypertension Due to High-Output Heart Failure: Hereditary Hemorrhagic Telangiectasia.

Pulmonary hypertension (PH) is a complex disorder that should be managed with a multidisciplinary approach. Although most of the underlying causes of left heart disease can be easily diagnosed with cardiac imaging, some pathologies might necessitate careful investigation to go beyond the obvious. High-output heart failure (HF) due to arteriovenous malformation (AVMs) is an unnoticeable cause for HF and PH. Patients with hepatic AVMs should always be carefully evaluated with regard to hereditary hemorrhagic telangiectasia (HHT) since they can have multiple signs related to the other systems without any symptoms. In this case report, we discussed a patient who was initially diagnosed as PH associated with HF with preserved ejection fraction but eventually was found to have PH associated with high-output HF due to hereditary hemorrhagic telangiectasia (HHT, or Osler Weber Rendu syndrome) after detailed evaluation.

Pulmonary arteriovenous malformation and a concurrent patent ductus arteriosus in a Doberman.

A 7-week-old male Doberman presented with tachypnea, dyspnea and a VI/VI, left cranial, continuous heart murmur. Thoracic radiographs revealed severe left-sided cardiomegaly, presence of a rounded soft tissue opacity in the caudodorsal aspect of the thoracic cavity and signs of left-sided congestive heart failure. Clinical signs of heart failure were medically controlled. Echocardiography and computed tomography demonstrated a left-to-right shunting patent ductus arteriosus (PDA) in combination with a right-to-left shunting pulmonary arteriovenous malformation (PAVM) between the right main pulmonary artery and the right caudal pulmonary vein. Arterial blood gasses revealed mild hypoxemia. Transcatheter occlusion of the PDA using an Amplatz Canine Duct Occluder was performed. Four months post-operatively, echocardiography showed normal cardiac size and function with complete PDA closure. Thoracic radiographs revealed absence of the rounded opacity and resolution of cardiomegaly and vascular congestion. The PAVM was no longer visualized on repeated computed tomography and the arterial blood gasses were within normal limits. A PAVM connecting a pulmonary artery to a pulmonary vein has only rarely been reported in dogs. This report describes the presence of a congenital PAVM in combination with a PDA in a dog, which has not been previously reported in veterinary medicine.

Parkes Weber syndrome: a rare cause of foot drop.

This case report describes a patient in her late 60s, previously diagnosed with Klippel-Trenaunay syndrome who presented with difficulty walking. A year prior to her presentation she had a fall which made her notice a painless foot drop on the right. Her right leg was profoundly hypertrophied compared with the left, and a port-wine stain was present on the lateral side, extending from the hip to the mid-shin. The patient's differential diagnosis based on clinical examination and investigations is discussed leading to a final diagnosis of sciatic neuropathy secondary to an arteriovenous malformation due to Parkes Weber syndrome.

Motor cortical stimulation for the treatment of trigeminal neuropathic pain secondary to an arteriovenous malformation. A case report.

INTRODUCTION: Trigeminal neuropathic pain (TNP) is a syndrome of severe, disabling, constant facial pain arising from the trigeminal nerve or ganglion. Arteriovenous malformations (AVM) are a rare cause of TNP. The limited choices of intervention of TNP include peripheral nerve stimulation, trigeminal nucleotomy and motor cortex stimulation. CASE REPORT: We present a 56-year-old man who suffered from trigeminal neuropathic pain secondary to nerve compression due to a giant posterior fossa AVM. The pain was refractory to drug treatment. From all the therapeutic options available we declined the microvascular decompression of the trigeminal nerve due to the presence of the giant AVM, or stereotactic radiosurgery because of the AVM´s diffuse nidus. After a multidisciplinary discussion we proposed a minimally invasive, safe and reversible treatment: Motor Cortical Stimulation (MCS). We placed a 16-pole epidural electrode on the right precentral gyrus. The patient had satisfactory pain control with some supplemental medication. No complications or side effects such as seizures, sensory disturbances or infections were presented. DISCUSSION: The limited choices of intervention of TNP include peripheral nerve stimulation, trigeminal nucleotomy and MCS. Henssen et al performed a systematic review where they investigated the effectiveness of MCS and discovered that this is significantly different among different chronic neuropathic orofacial pain disorders. A visual analogue scale (VAS) measured median pain relief of 66.5% was found. CONCLUSION: MCS should be one more tool to consider in highly selected cases, when other treatments are unfeasible.

Introducción: El dolor neuropático trigeminal (DNT) es un síndrome de dolor facial intenso, incapacitante y constante que surge del nervio o ganglio del trigémino. Las malformaciones arteriovenosas (MAV) son una causa rara de DNT. Las opciones terapéuticas de DNT incluyen la estimulación de los nervios periféricos, la nucleotomía del trigémino y la estimulación cortical motora. Caso clínico: Presentamos el caso de un varón de 56 años con dolor neuropático trigeminal secundario a compresión nerviosa por una MAV gigante de fosa posterior. El dolor era refractario al tratamiento farmacológico. De todas las opciones terapéuticas disponibles, desestimamos la descompresión microvascular del nervio trigémino por la presencia de la MAV gigante, o la radiocirugía estereotáctica, por ser difuso el nido de la MAV. Tras una discusión multidisciplinar propusimos un tratamiento mínimamente invasivo, seguro y reversible: Estimulación cortical motora (ECM). Colocamos un electrodo epidural en el giro precentral derecho. El paciente tuvo un control satisfactorio del dolor con medicación suplementaria. No presentó complicaciones ni efectos secundarios como convulsiones, alteraciones sensoriales o infecciones. Discusión: Las opciones limitadas de intervención de DNT incluyen estimulación nerviosa periférica, nucleotomía trigeminal y ECM. Henssen et al realizaron una revisión sistemática donde investigaron la efectividad de MCS y descubrieron que esto es significativamente diferente entre los diferentes trastornos de dolor orofacial neuropático crónico. Se encontró un promedio de alivio del dolor medida por una escala analógica visual del 66,5%. Conclusión: La ECM debería ser una herramienta más a considerar en casos estrictamente seleccionados donde otros tratamientos no son viables.

Efficacy of Embolization in Acquired Uterine Vascular Malformations: An Experience in Tertiary Care Centre in India.

OBJECTIVE: To determine the efficacy of Uterine Artery Embolization in patients with bleeding acquired uterine arteriovenous malformations (AVMs). METHODS: A prospective review of all patients who underwent Uterine Artery Embolization at our institution between July 2015 and April 2022 was performed. 225 patients were diagnosed with a uterine vascular malformation on doppler and corresponding MRI imaging. All patients underwent transcatheter embolization of the uterine arteries. Embolic agents in the 375 procedures included Histoacryl glue only (n = 326), polyvinyl alcohol (PVA) particles and Histoacryl glue (n = 29), PVA particles (n = 5), Gelfoam (n = 5), coils (n = 4), PVA particles and coils (n = 3), Histoacryl glue and Gelfoam (n = 2), and Histoacryl glue and coils (n = 1). RESULTS: A total of 375 embolization procedures were performed in 225 patients. 90 patients required repeat embolization for recurrence of bleeding. The technical success rate of embolization was 100%. The clinical success rate was 92%: bleeding was controlled in 222 of 225 patients and three patients underwent a hysterectomy. 60 of the 225 patients had uneventful intrauterine pregnancies carried to term. The 210 patients who underwent successful embolization had no recurrence of bleeding at a median follow-up of 53 months (range, 5-122 months) after treatment. 15 patients were eventually lost to follow-up. One minor complication (0.4%) of non-flow-limiting dissection of the internal iliac artery occurred. CONCLUSION: Uterine Artery Embolization is a safe, effective, minimally invasive method to treat uterine AVMs with long-term efficacy, which can provide the preservation of fertility.

Risk factors and clinical features associated with basal ganglia manganese deposition in patients with hereditary hemorrhagic telangiectasia.

BACKGROUND: T1-hyperintensity of the basal ganglia (BG) due to manganese deposition is a known radiologic finding in patients with hereditary hemorrhagic telangiectasia (HHT), but risk factors and associated clinical manifestations are unclear. This study conducted a quantitative analysis of the association of T1-hyperintensity in HHT patients with specific risk factors, signs, and symptoms. METHODS: Patients seen at our center between 2005 and 2020 with a definitive diagnosis of HHT who had an available non-contrast T1-weighted brain MRI were included. Hyperintensity was evaluated using oval regions of interest measurements. The BG: thalamus intensity ratio was used to quantitatively evaluate T1-hyperintensity. Patient laboratory values and clinical findings were collected from electronic medical records. Hyperintensity was analyzed for its association with laboratory values, and clinical findings. Variables were analyzed through regression analysis. RESULTS: A total of 239 patients were included in this study. On 1.5 T scanners, values that were significant on multivariable regression analysis were age (p < .001), hepatic AVMs (p < .001), iron deficiency anemia (p = .0021), and cirrhosis (p = .016). On 3 T scanners, values that were significant on multivariable analysis were hepatic AVMs (p = .0024) and cirrhosis (p = .0056). On 3 T scanners, hyperintensity was significantly associated with tremor (OR = 1.17, p = .033), restless leg syndrome (OR = 1.22, p = .0086), and memory problems (OR = 1.17, p = .046). CONCLUSIONS: BG hyperintensity due to manganese deposition is significantly associated with hepatic risk factors on 1.5 T and 3 T scanners and iron deficiency anemia on 1.5 T scanners. On 3 T scanners, T1-hyperintensity is associated with neuropsychiatric signs and symptoms, such as tremor, restless leg syndrome, and memory problems.