Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia.

OBJECTIVE: To assess the utility of the Curaçao criteria by age over time in children with hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN: This was a single-center, retrospective analysis of patients attending the HHT clinic at the Hospital for Sick Children (Toronto, Canada) between 2000 and 2019. The evaluation of the Curaçao criteria was completed during initial and follow-up visits. Screening for pulmonary and brain arteriovenous malformations was completed at 5 yearly intervals. RESULTS: A total of 116 patients with genetic confirmation of HHT were included in the analysis. At initial screening at a median (IQR) age of 8.4 (2.8, 12.9) years, 41% met criteria for a definite clinical diagnosis (≥3 criteria). In children <6 years at presentation, only 23% fulfilled at least 3 criteria initially. In longitudinal follow-up, 63% reached a definite clinical diagnosis, with a median (IQR) follow-up duration of 5.2 (3.2, 7.9) years (P = .005). Specifically, more patients met the epistaxis and telangiectasia criteria at last visit compared with initial (79% vs 60%; P = .006; 47% vs 30%; P = .02) but not for the arteriovenous malformation criterion (59% vs 57%; P = .65). CONCLUSIONS: In the pediatric population, most patients do not meet definite clinical criteria of HHT at initial presentation. Although the number of diagnostic criteria met increased over time, mainly due to new onset of epistaxis and telangiectasia, accuracy remained low during follow-up visits. Relying solely on clinical criteria may lead to underdiagnosis of HHT in children.

Retinal Arteriovenous Malformation Assessment Using Swept-Source OCT Angiography.

Swept-source optical coherence tomography angiography (SS-OCTA) is a promising new imaging modality for assessing retinal and choroidal vasculature. Faster scanning speed, large number of A-scan acquisition, and enhanced depth penetration has enhanced the detailed analysis of retinal layers. The authors discuss SS-OCTA features of a rare case of retinal arteriovenous malformation. Image analysis revealed the anomalous large-caliber vessels occupying up to the entire retinal thickness with associated echolucent changes in the inner retinal layers surrounding the retinal vessels, along with disruption of the outer retinal layers, including the inner/outer segments of photoreceptors beneath the large tortuous vessels outside the foveola in absence of any capillary nonperfusion areas or lack of significant macular edema. At the fovea, the outer retinal layers were intact due to a smaller caliber and less-deep extension of the anomalous vessels. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:216-219.].

Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management.

Capillary malformation-arteriovenous malformation syndrome is a rare type of vascular malformation first described in 2003. It is an autosomal dominant inherited disorder that has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. The clinical picture is characterized by multiple small capillary malformations which are associated with either arteriovenous malformations or arteriovenous fistulas in both the affected individual and other members of their family. We describe 2 new familial cases of this syndrome that were clinically and genetically diagnosed and studied in our hospital.

Assessment of soft tissue tumours of the extremities with diffusion echoplanar MR imaging.

PURPOSE: This study assessed soft tissue tumours of the extremities with diffusion echo-planar magnetic resonance (MR) imaging. MATERIALS AND METHODS: We carried out a retrospective study of 37 patients (22 male, 15 female; age range 4-68 years; mean age 41 years) with a soft tissue mass. Diffusion-weighted magnetic resonance (MR) imaging was done using echo-planar imaging (EPI) with b factor of 0.500 and 1,000 mm2/s. The apparent diffusion coefficient (ADC) map was reconstructed with calculation of the ADC values of the mass. RESULTS: The mean ADC value of the malignant tumours was 1.02±0.03×10(-3)mm(2)/s and that of benign masses 1.54±0.03×10(-3)mm(2)/s. There was a significant difference in the ADC values between malignant soft tissue tumours and benign masses (p<0.001) and within different grades of malignancy (p<0.02). Selection of 1.34×10(-3) mm(2)/s as a threshold ADC value for differentiating malignant soft tissue tumours from benign masses resulted in an accuracy of 91%, sensitivity of 94%, specificity of 88% and area under the curve of 0.869. There was a significant difference in the ADC value between well- and poorly differentiated malignancies (p=0.001). CONCLUSIONS: Diffusion-weighted echo-planar MR imaging is a promising noninvasive modality that may be helpful in differentiating malignant soft tissue tumours from benign masses as well as in grading malignancy.

4D time-resolved magnetic resonance angiography for noninvasive assessment of pulmonary arteriovenous malformations patency.

PURPOSE: To assess the capability of four-dimensional (4D) time-resolved magnetic resonance angiography (MRA) to assess pulmonary arteriovenous malformations (PAVMs) patency by analyzing pulmonary arterial and venous enhancement kinetics. MATERIALS AND METHODS: Seven patients with eight documented patent PAVMs underwent a 4D-MRA with keyhole and viewsharing compression at 3T with the following parameters: spatial resolution 0.87 × 0.87 × 1.4 mm(3); field of view 500 × 350 × 238 mm(3); dynamic scan time (temporal resolution) 1.2 seconds; total acquisition time 18.1 seconds for six dynamic datasets (6 × 1.2 sec + reference scan: 10.9 sec). All images were reviewed by two experienced radiologists. Image quality was rated on a qualitative 5-point scale (1: not assessable to 5: excellent). Signal value was measured on cross-sectional planes for the afferent arteries and efferent veins of the PAVM, and for normal reference healthy arteries and veins. The difference in time to peak for each coupled artery/vein (dTTPav) was calculated and compared with a Mann-Whitney test between PAVMs and reference vessels. RESULTS: Mean image quality was 3.2 ± 0.9. dTTPav was significantly smaller in PAVMs (0.15 ± 0.76 sec) than in reference vessels (3.75 ± 1.62 sec), P < 0.001. CONCLUSION: 4D-MRA is a promising tool for noninvasive assessment of PAVM patency.

Assessment of time-resolved, dynamic, contrast-enhanced MRDSA using radial sliding-window reconstruction.

Sliding-window reconstruction (SWR) has been recently introduced for rapid imaging that improves temporal resolution while maintaining signal-to-noise ratio (SNR) and spatial resolution. We assessed the quantity of 2-dimensional contrast-enhanced magnetic resonance digital subtraction angiography (2D CE-MRDSA) with non-Cartesian radial SWR in phantom and clinical studies. In phantoms, we compared the quantitative properties of time-intensity curves (TIC) obtained with dynamic 2D CE-MRDSA using SWR in a radial acquisition with those obtained by Cartesian acquisition. We calculated the mean variance and standard deviation among signal intensities in TICs and used SWR to study 2D CE-MRDSA in 5 patients with angiographically proven arteriovenous malformations. Using a 3-point grading scale, we individually scored vascular visualization capability and calculated time delay (TD) from the TIC in the feeding artery (FA), nidus, and draining vein (DV). The maximum signal intensity variance in Cartesian SWR was 6.58 +/- 2.27% among time-intensity curves and was 0.87 +/- 0.77% radial SWR. Signal intensity in radial SWR decreased significantly (P<0.001) compared with the Cartesian SWR. In clinical study, the mean rating on 2D CE-MRA of the feeding artery was 2.3, nidus, 2.6, and draining vein, 2.6. Mean delay time between DV and FA was 1.8 s. The radial SWR technique is useful for demonstrating the hemodynamic features of vascular malformations in the head with 2D CE-MRDSA.

Assessment of intestinal vascular malformations in patients with hereditary hemorrhagic teleangiectasia and anemia.

INTRODUCTION: Hereditary hemorrhagic teleangiectasia (HHT) is an autosomal dominant disorder with mucocutaneous teleangiectasia and visceral arteriovenous malformations. Mutations of endoglin and Activin A receptor like kinase-1 have different phenotypes, HHT1 and HHT2, respectively. The gastrointestinal tract is frequently affected, but limited information is available on the relationship with genotype. AIM: To determine whether different genotypes have different phenotypes with respect to intestinal teleangiectasia. METHODS: HHT patients, referred for anemia, underwent videocapsule endoscopy. Chart review was performed for information on genotype and HHT manifestations. RESULTS: Twenty-five patients were analyzed (men/women 13/9, mean age 49+/-15 years.), 14 HHT1, eight HHT2 and three without known mutation. Epistaxis occurred in 96% of patients. Gastroduodenoscopy revealed teleangiectasia in 7/12 (58%) HHT1 and 3/8 (38%) HHT2 patients. Videocapsule endoscopy found teleangiectasia in all HHT1 and 5/8 (63%) HHT2 patients. In 9/14 HHT1 patients, teleangiectasia were large. Teleangiectasia in the colon was restricted to 6/11 (55%) HHT1 patients. Hepatic arteriovenous malformations were present in 1/7 HHT1 and 5/6 HHT2 patients. CONCLUSION: Large teleangiectasia in small intestine and colon appear to occur predominantly in HHT1. Hepatic arteriovenous malformations are mainly found in HHT2. In HHT patients with unexplained anemia, videocapsule endoscopy should be considered to determine the size and extent of teleangiectasia and exclude other abnormalities.

Pediatric head and neck lesions: assessment of vascularity by MR digital subtraction angiography.

BACKGROUND AND PURPOSE: Pediatric head and neck lesions can be difficult to characterize on clinical grounds alone. We investigated the use of dynamic MR digital subtraction angiography as a noninvasive adjunct for the assessment of the vascularity of these abnormalities. METHODS: Twelve patients (age range, 2 days to 16 years) with known or suspected vascular abnormalities were studied. Routine MR imaging, time-of-flight MR angiography, and MR digital subtraction angiography were performed in all patients. The dynamic sequence was acquired in two planes at one frame per second by using a thick section (6-10 cm) selective radio-frequency spoiled fast gradient-echo sequence and an IV administered bolus of contrast material. The images were subtracted from a preliminary mask sequence and viewed as a video-inverted cine loop. RESULTS: In all cases, MR digital subtraction angiography was successfully performed. The technique showed the following: 1) slow flow lesions (two choroidal angiomas, eyelid hemangioma, and scalp venous malformation); 2) high flow lesions that were not always suspected by clinical examination alone (parotid hemangioma, scalp, occipital, and eyelid arteriovenous malformations plus a palatal teratoma); 3) a hypovascular tumor for which a biopsy could be safely performed (Burkitt lymphoma); and 4) a hypervascular tumor of the palate (cystic teratoma). CONCLUSION: Our early experience suggests that MR digital subtraction angiography can be reliably performed in children of all ages without complication. The technique provided a noninvasive assessment of the vascularity of each lesion that could not always have been predicted on the basis of clinical examination or routine MR imaging alone.

[Morphologic and functional assessment of vascular abnormalities of the pulmonary vasculature by breath-hold MR techniques]. / Morphologische und funktionelle Evaluation pulmonaler Gefässanomalien mittels schneller MR-Techniken.

PURPOSE: To evaluate breath-hold MR techniques for morphologic and functional assessment of vascular abnormalities of the pulmonary vasculature. PATIENTS AND METHODS: 13 patients aged 11 to 60 years with different vascular abnormalities of the pulmonary vasculature (5 patients with 16 arteriovenous malformations, 8 patients with partial anomalous pulmonary venous return) underwent MR imaging at 1.5 T. For morphological assessment, a contrast-enhanced 3D MR angiography (ce-MRA) was performed after a timing run. Segmented cine- and velocity-encoded GRE sequences were used for delineation of associated cardiac septal defects and for determination of systemic left-to-right or intrapulmonary shunt volumes. Selective intra arterial digital subtraction angiography, cardiac catheterization, and the intraoperative situs served as reference standards. RESULTS: Ce-MRA allowed for detection of all vascular abnormalities and for anatomic characterization of 14/16 arteriovenous malformations. Flow measurements in the feeding arteries allowed for determination of intrapulmonary shunt volumes in 4/5 patients. Flow measurements performed in the pulmonary arteries and the ascending aorta enabled determination of systemic left-to-right shunting in patients with anomalous pulmonary venous return. Cine-sequences clearly depicted associated cardiac septal defects. CONCLUSION: Breath-hold MR techniques allow for morphological and functional characterization of vascular anomalies of the pulmonary vasculature. Therefore, they are the non-invasive method of choice for planning further treatment.

Importance of dural ectasia in phenotypic assessment of Marfan's syndrome.

BACKGROUND: Early identification of Marfan's syndrome is fundamental in the prevention of aortic dilatation, but the wide phenotypic expression of the disorder makes the clinical diagnosis very difficult. Dural ectasia has been classified as a major diagnostic criterion; however, its prevalence is not known. We aimed to identify the true prevalence of dural ectasia in Marfan's syndrome, and to investigate its relation to aortic pathology. METHODS: A magnetic-resonance-imaging (MRI) study of the thoracic aorta and of the lumbosacral spine was done in an inclusive series of 83 patients with Marfan's syndrome to assess the presence and degree of dural ectasia and aortic involvement; 12 patients were younger than 18 years. 100 individuals who underwent MRI of the lumbar spine for routine clinical indications represented the control group; none of them had any potential causes for dural ectasia. FINDINGS: Dural ectasia was identified in 76 (92%) patients and none of the control group. The severity of dural ectasia was related to age; the mean (SD) age of patients with mild dural ectasia was 26 years (14) whereas that of those with severe disease (meningocele) was 36 years (9) (p=0.038). 11 of 12 patients younger than 18 years had dural ectasia. No association was found between aortic dilatation and dural ectasia. INTERPRETATION: Dural ectasia is a highly characteristic sign of Marfan's syndrome, even at an early age.

Contrast-enhanced MRA in pre-embolization assessment of a pulmonary arteriovenous malformation.

We describe a case of a single pulmonary vascular malformation studied with a new contrast-enhanced three-dimensional MRA technique. Images provided the interventional radiologist with a pre-embolization road map from which information regarding the number and size of feeding and draining vessels was obtained accurately and noninvasively.

Tumors and arteriovenous malformations of the spinal cord: assessment using MR.

Thirty-three patients with either primary spinal cord tumors (n = 18), intradural tumors excavating into the cord (n = 9), or spinal arteriovenous malformations (AVM) (n = 6) were studied with magnetic resonance (MR) imaging. In 25 of 38 examinations (66%) (five patients were studied twice), MR provided more information than that provided by other neuroradiologic procedures. In several cases, MR affected patient management decisions. Advantages of MR, in addition to the absence of ionizing radiation and its noninvasive nature, include good spinal cord-CSF-theca contrast, lack of bone-derived artifacts, ease of multiplanar imaging, improved discrimination between intra- and extramedullary lesions, better definition of tumoral cavities and possible distinction from true syringes, ability to help one recognize thrombus formation within an AVM, and ease of follow-up of cord lesions for possible size changes. Apart from factors precluding the study in several patients (life support systems, pacemakers, claustrophobia, neurovascular clips), disadvantages of MR imaging include motion artifacts (prevalent in thoracolumbar area), poor capability of typing and grading of tumors, potential of false-positive results, poor detection of calcification, and poor delineation of feeders and drainers of AVM.

Two dimensional echocardiographic assessment of communications between ascending aorta and pulmonary trunk or individual pulmonary arteries.

The value of two dimensional echocardiography in identifying communications between the ascending aorta and pulmonary trunk or individual pulmonary arteries was assessed in 24 children, all of whom had either angiocardiographic and surgical or angiocardiographic confirmation alone. Fourteen cases had truncus arteriosus, four aortopulmonary window, four anomalous origin of the left pulmonary artery from the ascending aorta, and two anomalous origin of the right pulmonary artery from the ascending aorta. It was possible to identify reliably each individual abnormality with a combination of suprasternal, precordial, and subcostal cuts. Problems only arose in differentiating truncus arteriosus from pulmonary atresia and ventricular septal defect when the main pulmonary artery and infundibular region of the right ventricle were extremely hypoplastic.