COMPLEX DISORDERS OF THE VESSEL WALL

COMPLEX DISORDERS OF THE VESSEL WALL - keywords
complex vessel wall references to complex vessel wall disorders r e f e r e n c e s n a v i g a t o r < Baldwin, A., Simpson, A., Steer, R., Cain, S., & Kielty, C. (2013). Elastic fibres in health and disease. Expert Reviews in Molecular Medicine, 15, E8. https://www.cambridge.org/core/journals/expert-reviews-in-molecular-medicine/article/elastic-fibres-in-health-and-disease/82C47BA5781BD354DC48CFEABE8D5A5A/core-reader Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B (2018) Arterial tortuosity syndrome: 40 new families and literature review. Genet Med 20(10):1236-1245. Brosig CL, Siegel DH, Haggstrom AN, Frieden IJ, Drolet BA (2016) Neurodevelopmental Outcomes in Children with PHACE Syndrome. Pediatr Dermatol 33(4):415-23. Callewaert B, De Paepe A, Coucke P (2014) Arterial Tortuosity Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Chamli A, Litaiem N. PHACE Syndrome: https://www.ncbi.nlm.nih.gov/books/NBK539722/ Drolet BA, Dohil M, Golomb MR, Wells R, Murowski L, Tamburro J, Sty J, Friedlander SF (2006) Early stroke and cerebral vasculopathy in children with facial hemangiomas and PHACE association. Pediatrics 117:959-64. Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R, Frieden IJ (2006) Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development. Pediatrics 117(3):698-703. Hess CP, Fullerton HJ, Metry DW, Drolet BA, Siegel DH, Auguste KI, Gupta N, Haggstrom AN, Dowd CF, Frieden IJ, Barkovich AJ (2010) Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol 31(10):1980-6 Heyer GL, Millar WS, Ghatan S, Garzon MC (2006) The neurologic aspects of PHACE: case report and review of the literature. Pediatr Neurol 35:419-424. Judd CD, Chapman PR, Koch B, Shea CJ (2007) Intracranial infantile hemangiomas associated with PHACE syndrome. AJNR Am J Neuroradiol 28(1):25-9. Juul S, Ledbetter D, Wight TN, Woodrum D (1990) New insights into idiopathic infantile arterial calcinosis. Three patient reports. Am J Dis Child 144(2):229-33. Kim ST, Brinjikji W, Lanzino G, Kallmes DF (2016) Neurovascular manifestations of connective-tissue disorders: a review. Interventional Neuroradiology 22(6); 624-637. Loeys BL, Dietz HC. Loeys-Dietz Syndrome (2008) ) In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Mehrabi E, Khan K, Malik S (2016) Arterial tortuosity syndrome. BMJ Case Rep doi:10.1136/bcr-2016-217029 [Newborn with lower blood pressure in the legs, micrognathia, prune skin and down slanting palpebral fissures. In addition tortuosity throughout the arterial tree, distal aortic arch stenosis and pulmonary artery stenosis. Mutation in SLC2A10, with decreased decorin transcription and disinhibition of the TGFB pathway. No brain damage recorded.] Meuwissen M (2014) Genetic causes of cerebrovascular disorders in childhood. Thesis at Erasmus University Rotterdam. Mogler C, Springer W, Gorenflo M (2015) Fibromuscular dysplasia of the coronary arteries: a rare cause of death in infants and young children. Cardiology in the Young 26; 202-205. Rossi A, Tortori-Donati P (2006) Agenesis of bilateral internal carotid arteries in the PHACE syndrome. Am J Neuroradiol 27:1602. Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B (2018) A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. Hum Mutat 39(5):621-634. Schiffmann JH, Wessel A, Bruck W, Speer CP (1992) Idiopathic infantile arterial calcinosis. A rare cardiovascular disease of uncertain etiology. Case report and a review of the literature. Monatsschr Kinderheilk 140:27-33.Shabeeb NM, Plager DA, Haggstrom AN (2017) Peters anomaly in PHACE syndrome. J AAPOS 21(4):331-333. Wan J, Steiner J, Baselga E, Blei F, Cordisco M, Garzon MC, Goddard DS, Haggstrom A, Krol A, Frieden IJ, Metry D, Morel KD, Verhagen JMA, Wargon O, Drolet BA, Siegel DH (2017) Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository. J Pediatr 190:275-279. Soun JE, Song JW, Romero JM, Schaefer PW (2019) Central nervous system vasculopathies. Radiol Clin N Am 57; 1117-1131.Thompson JA, Grunnet ML, Anderson RE (1975) Carotid arterial elastic hyperplasia in a newborn. Stroke 6:391-4. Vahedi K, Massin P, Guichard JP, Miocque S, Polivka M, Goutières F, Dress D, Chapon F, Ruchoux MM, Riant F, Joutel A, Gaudric A, Bousser MG, Tournier-Lasserve E (2003) Hereditary infantile hemiparesis, retinal arteriolar tortuosity and leukoencephalopathy. Neurology 60(1):57-63.van der Sluis IM, Boot AM, Vernooij M, Meradji M, Kroon AA (2006) Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up. Eur J Pediatr 165:590-3. This neurogenetic classification of vascular disorders in the newborn/pediatric/adult brain is constantly adapted (Meuwissen et al. 2014, Kim et al. 2016, Soun et al. 2019). Although connective tissue disorders are prominent causes of stroke in childhood, their extension into the neonatal period as a cause of stroke, ischaemic or haemorrhagic, is exceptional. At this stage there are no publications of neonatal stroke in fibromuscular dysplasia, arterial tortuosity syndrome, cerebral amyloid angiopathy, …Neonatal death due to coronary occlusion has been linked to fibromuscular dysplasia (Mogler et al. 2015). > Genetic and acquired disorders of vascular development that may present in the perinatal period are interwoven, but a provisional attempt at classification is presented here. Mutations in collagen 4A and in tight junctions typically present with antenatal brain haemorrhage. Some genetic conditions present with lenticulostriate arteriopathy and are discussed with that topic. Other disorders typically present with stroke. Some non-infectious inflammatory conditions predispose to stroke, grouped under the umbrella of pseudo-TORCH conditions. When a search for the explanation of neonatal stroke remains unrewarding, it is recommendable to start neurogenetic investigations. —> Certain groups emerge: Abnormalities of large arteriesCarotid agenesisPersistent carotidobasilar anastomosisAbnormalities of the circle of WillisAbnormalities of vertebro-basilar anatomyDisorders of angiogenesisVascular overgrowth syndromesAngiodysplasiasHHT (hereditary haemorrhagic telangiectasia)CavernomaVascular malformationsAVMVGMDVAInflammatory arteriopathiesDisorders of endothelial cell junctionsOccludinJunctional Adhesion Molecule 3 (AR)Actin related Disorders of the basement membraneCollagen 4A mutationsDevelopmental issues related to fibronectinDisorders of the pericyteProliferative Vasculopathy and Hydranencephaly- Hydrocephaly (Fowler syndrome)Disorders of transendothelial transport, receptor disordersComplex genetic changes of the vascular wall. --------——————> complex disorders of the vessel wall examples Complex genetic changes of the vascular wall Karyotype anomalies Infantile arterial calcinosis Carotid elastin hyperplasia Ehlers-Danlos syndrome IV (type 3 collagen) Neurofibromatosis 1 (neurofibromin) PHACES syndrome Arterial tortuosity syndromes Fibromuscular dysplasia Complex genetic changes of the vascular wall Karyotype anomalies Infantile arterial calcinosis Carotid elastin hyperplasiaEhlers-Danlos syndrome IV (type 3 collagen) Neurofibromatosis 1 (neurofibromin) PHACES syndromeArterial tortuosity syndromesFibromuscular dysplasia arterial calcinosis Term infant with hypertension, seizures and elevated serum CRP in the absence of positive blood and CSF cultures. Calcification of aorta and branches as well as tendons and ligaments was typical of infantile arterial calcinosis. The early neonatal scans are from day two and display arteriopathy not surrounded by infiltrates. Second week scans confirmed arteriopathy but evolving fluffy hyperechoic changes were seen around still patent arteries. The diffuse nature of these changes is depicted on proton density MR as hyperintense (white areas) in striatum and insular cortex. At the end of the neonatal period striatal arteriopathy had further increased, and cavitating watershed-mimicking injury was seen in the left parasagittal cerebral (sub)cortex. ——> PHACES syndrome cerebro-retinal arteriopathy examples of vessel wall disorders PHACES association Major criteria Arterial: anomalies of major cerebral or cervical arteries, stenosis, occlusion, dysplasia, hypoplasia, persistent carotid-vertebrobasilar anastomosis Structural brain: posterior fossa anomalies: Danky-Walker complex, unilateral or bilateral cerebral dysplasia or hypoplasia Cardiovascular: aortic arch anomalies, aneurysm, an aberrant origin of the subclavian artery Ocular: posterior segment anomaly, retinal vascular anomalies Ventral or midline: sternal defect, sternal cleft Minor criteriaArterial: aneurysm of cerebral arteries Structural brain: midline anomaly, malformation of cortical development, neuronal migration disorder Cardiovascular: ventricular septal defect, right aortic arch Ocular: anterior segment anomalies, cataract, sclerocornea, microphthalmia Ventral or midline: hypopituitarism, ectopic thyroid, midline sternal papule ComplicationsHaemangioma: ulceration, bleeding, visual compromise, cause issue with vital function Cardiovascular: coarctation of the aorta is the most common (14,5 %), other aortic arch abnormalities Neurological: migraine headaches, developmental delays, seizures, speech delays, and rarely ischaemic strokes or haemorrhage Ophthalmological: cataract, glaucoma Occasionally, dental hypoplasia, impaired hearing and endocrine abnormalities (hypopituitarism and hypothyroidism) PHACES association is a neurocutaneous syndrome that includes Posterior fossa malformation, large segmental facial Haemangioma, Arterial anomalies, Coarctation of the aorta/cardiac defects, Eye abnormalities, and Sternal defects. The arterial abnormalities may be developmental and usually involve the cervical and cerebral vasculature. Infants with PHACES association are at increased risk of arterial ischaemic stroke. There is a female to male ratio of 9 to 1. It is sporadic, but suggestions exist that it may correlate to a mutation in the X linked genes since it has female predominance with prenatal male lethality. It is a developmental error between 6 and 8 weeks of gestation, before or during vasculogenesis. Progressive vasculopathy may result in regional arterial insufficiency and disruption of the normal arterial wall (Drolet et al. 2006, Haggstrom et al. 2006, Heyer et al. 2006, Rossi and Tortori-Donati 2006, Judd et al. 2007, Hess et al. 2010, Brosig et al. 2016, Shaheeb et al. 2017, Verhagen et al. 2017). Approximately 20 % of children with facial haemangioma develop one of the abnormalities of PHACES. The haemangioma is not always conspicuous at birth. Stroke has been reported in infants as of three months of age, not in neonates. Focal dysplasia of the cerebral cortex (focal pachygyria with polymicrogyria, heterotopic grey matter) and hemicerebellar atrophy are present in the neonatal period, both almost always on the side of the facial hemangioma. Callosal and /or septal agenesis have been associated uncommonly. elastic dysplasia and neonatal stroke clinical presentation: cerebral arterial dysplasia, microcephaly and polycythaemia in a small for gestational age infant histological and radiographical evidence: cervical internal carotid artery stenosis (70% to 80%) resulting in bilateral recent infarcts in the distributions of both the middle and anterior cerebral arteries, markedly thickened carotid walls microscopically: reduplication of the internal elastic lamina, with no increase in smooth muscle cells or adventitia; no thrombosis carotid arteries above the siphon with normal walls; vessels within the brain and the rest of the body normal Macro-arterial elastic dysplasia and neonatal stroke A combination of cerebral arterial dysplasia, microcephaly and polycythaemia in a postmature infant, small for gestational age was speculated to follow a primary carotid artery dysplasia (Thompon et al. 1975). Both histological and radiographic evidence supports the conclusion that carotid artery stenosis (70% to 80%) resulted in a significant decrease in cerebral blood flow. Polycythaemia may have contributed to cerebral ischaemia. There were bilateral recent infarcts in the distributions of both the middle and anterior cerebral arteries, as well as edema with evidence of transtentorial herniation. The area supplied by the posterior circulation was relatively well preserved. Microscopically these infarcts contained pericellular vacuolization, spongy change and petechiae, without inflammatory reaction. The left cerebellar hemisphere contained a vascular collection of large, thin-walled vessels, but was otherwise normal. The brain stem was intact. The walls of all four carotid arteries in the neck were markedly thickened. Stenosis was estimated at 70% to 80%. Microscopically there was dramatic reduplication of the internal elastic lamina, with no increase in smooth muscle cells or adventitia. No thrombi were seen. Carotid arteries above the siphon had normal walls grossly. Vessels within the brain and the rest of the body were normal on gross and microscopic examination. <---- infant with distal interphalangeal arthritis, abnormal calcification of the wrist and calcification of the abdominal aorta; previous sib died with heart failure in infancy generalised arterial calcinosis in infancy Idiopathic infantile arterial calcinosis is accompanied by hypertension and hypertrophic cardiomyopathy, causing calcification in the walls of all major arteries but not always in brain arteries (Juul et al. 1990, Schiffmann et al. 1992, van der Sluis et al. 2006). Progressibe obliteration of perforator and pial arteries can lead to atypical cavitating brain destruction. postmortem specimen of infant with arterial calcinosis: calcifciation of cardiac, pulmonary and mediastinal arteries Loeys-Dietz syndrome (LDS) should be suspected in individuals with vascular, skeletal, craniofacial, cutaneous, allergic/inflammatory and ocular findings (Loeys et al 2005, Loeys and Dietz 2008, Baldwin et al. 2013, Callewaert et al. 2014). LDS typically presents with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-𝛽 (TGF-𝛽) receptors (TGFBR1 and TGFBR2) were described, explaining impaired TGF-𝛽 signaling. More recently, TGF-𝛽 ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-𝛽 pathway, SMAD2 and SMAD3, were shown to be involved. Aortic root dilatation is seen in more than 95% of probands. Other changes include arterial aneurysms and tortuosity (Mehrabi et al; 2016). In rare circumstances, aneurysms or dissections are seen in other arteries in the head, chest, abdomen, or extremities in the absence of aortic involvement. Evaluation is done with magnetic resonance or CT angiography with 3D reconstruction from head to pelvis. Tortuosity is often prominent in head and neck vessels. Approximately 50% of individuals with LDS studied had an aneurysm distant from the aortic root that would not have been detected by ultrasound. Arterial tortuosity presenting in the neonatal period: - Arterial Tortuosity syndrome (SLC2A10: glucose transporter 10)(abnormal TGFβ activity leads to induced smooth muscle cells proliferation; aberrant collagen and elastin metabolism; rare neonatal IVH with parenchymal lesions) - cutis laxa (EFEMP2, ARCL1A) - AD Loeys-Dietz s. (TGFBR1, TGFBR2, SMAD, TGFB2) - XL occipital horn s. (ATP7A) - col4A1 mutation - Menkes disease - PHACES syndrome - Alagille syndrome - ACTA 2 related generalized smooth muscle cell deficiency - cerebro-retinal arterial tortuosity arterial tortuosity syndromes Arterial tortuosity syndrome (ATS, MIM 208050) is an autosomal recessive disorder characterized by elongated tortuous large and medium-sized arteries with a propensity for aneurysm formation, dissection and ischaemic events. Arterial narrowing occurs in the pulmonary arteries and the aorta. Patients present with a hyperextensible skin, cutis laxa, diaphragmatic hernia and Marfanoid features. Initial reports described mortality rates up to 40% before the age of 5 years, but subsequent series suggest a milder course. Arterial tortuosity syndrome is caused by mutations in SLC2A10. Vascular complications include early and aggressive aortic root aneurysm, neonatal intracranial bleeding, ischaemic stroke and gastric perforation (Beyens et al. 2018). Diaphragmatic hernia and infant respiratory distress syndrome (IRDS) are frequently observed. Skin and vascular biopsies show fragmented elastic fibers (EF) and increased collagen deposition. Genetic testing for the LDS genes are to be considered in the following contexts (Schepers et al. 2018): - clinical triad: hypertelorism, cleft palate/bifid uvula and arterial tortuosity/aneurysm (tortuosity striking in head and neck vessels) - early onset aortic aneurysm with variable combination of other features including arachnodactyly, camptodactyly, club feet, craniosynostosis (all types), blue sclerae, thin skin with atrophic scars, easy bruising, joint hypermobility, bicuspid aortic valve, patent ductus arteriosus, atrial and ventricular septum defects - sporadic young probands with aortic root dilatation/dissection - families with autosomal dominant thoracic aortic aneurysms, especially families with early onset aortic/arterial dissection, aortic disease beyond the aortic root (including cerebral arteries - patients with a Marfan phenotype, especially those without ectopia lentis, but with aortic and skeletal features not fulfilling Marfan criteria - patients with clinical features reminiscent of vascular Ehlers–Danlos syndrome (thin skin with atrophic scars, easy bruising, joint hypermobility) and normal type III collagen biochemistry and/or normal COL3A1 genetic testing. cerebro-retinal arterial tortuosity The main hereditary vascular conditions involving both retinal and cerebral vessels include cerebroretinal angiopathy, HERNS (hereditary endotheliopathy with retinopathy, nephropathy, and stroke) and hereditary vascular retinopathy. All are linked to the same locus on chromosome 3p21. Hereditary retinal arteriolar tortuosity is a distinct, autosomal dominant condition characterized by retinal arteriolar tortuosity and recurrent retinal haemorrhages. This condition is known to affect only retinal vessels. Clinical and brain MRI investigations of eight members of a three-generation family and extensive biological and systemic vascular investigations within one affected family member were conducted (Vahedi et al. 2003). Six of eight family members were symptomatic; disorders included infantile hemiparesis (2), migraine with aura (3), and retinal haemorrhage (1). Five individuals had retinal arteriolar tortuosities. A diffuse leukoencephalopathy in association with dilated perivascular spaces was observed in six individuals. Two family members had silent, deep cerebral infarcts as demonstrated on MRI. Genetic linkage analysis strongly suggests that this disorder is not linked to the 3p21 hereditary vascular retinopathy/cerebroretinal vasculopathy/HERNS locus. Mac OS X 2Û ATTR Ü1Ücom.apple.TextEncodingëcom.apple.provenanceöcom.apple.quarantineutf-8;134217984Â.Im0ÖWq/0082;69e3a53e;Hype4;

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