Genetic and heritable considerations in patients or families with both intracranial and extracranial aneurysms

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  • 1 Department of Neurosurgery, Washington University in St. Louis; and
  • | 2 Cardiovascular Division, Department of Medicine, Washington University in St. Louis, Missouri
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Contributor Notes

Correspondence Anna L. Huguenard: ahuguenard@wustl.edu.

INCLUDE WHEN CITING Published online January 1, 2021; DOI: 10.3171/2020.8.JNS203234.

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

  • 1

    Tromp G , Weinsheimer S , Ronkainen A , Kuivaniemi H . Molecular basis and genetic predisposition to intracranial aneurysm . Ann Med . 2014 ;46 (8 ):597 606 .

    • Search Google Scholar
    • Export Citation
  • 2

    Kurtelius A , Väntti N , Rezai Jahromi B , et al. Association of intracranial aneurysms with aortic aneurysms in 125 patients with fusiform and 4253 patients with saccular intracranial aneurysms and their family members and population controls . J Am Heart Assoc . 2019 ;8 (18 ):e013277 .

    • Search Google Scholar
    • Export Citation
  • 3

    Hitchcock E , Gibson WT . A review of the genetics of intracranial berry aneurysms and implications for genetic counseling . J Genet Couns . 2017 ;26 (1 ):21 31 .

    • Search Google Scholar
    • Export Citation
  • 4

    Zhou S , Dion PA , Rouleau GA . Genetics of intracranial aneurysms . Stroke . 2018 ;49 (3 ):780 787 .

  • 5

    Niemczyk M , Gradzik M , Fliszkiewicz M , et al. Natural history of intracranial aneurysms in autosomal dominant polycystic kidney disease . Neurol Neurochir Pol . 2017 ;51 (6 ):476 480 .

    • Search Google Scholar
    • Export Citation
  • 6

    Kim DH , Van Ginhoven G , Milewicz DM . Familial aggregation of both aortic and cerebral aneurysms: evidence for a common genetic basis in a subset of families . Neurosurgery . 2005 ;56 (4 ):655 661 .

    • Search Google Scholar
    • Export Citation
  • 7

    Dombrowski D , Long GW , Chan J , Brown OW . Screening chest computed tomography is indicated in all patients with abdominal aortic aneurysm . Ann Vasc Surg . 2020 ;65 :190 195 .

    • Search Google Scholar
    • Export Citation
  • 8

    Kuzmik GA , Sang AX , Elefteriades JA . Natural history of thoracic aortic aneurysms . J Vasc Surg . 2012 ;56 (2 ):565 571 .

  • 9

    Singh K , Bønaa KH , Jacobsen BK , et al. Prevalence of and risk factors for abdominal aortic aneurysms in a population-based study: the Tromsø Study . Am J Epidemiol . 2001 ;154 (3 ):236 244 .

    • Search Google Scholar
    • Export Citation
  • 10

    Kuivaniemi H , Elmore JR . Opportunities in abdominal aortic aneurysm research: epidemiology, genetics, and pathophysiology . Ann Vasc Surg . 2012 ;26 (6 ):862 870 .

    • Search Google Scholar
    • Export Citation
  • 11

    Braverman AC . Heritable thoracic aortic aneurysm disease: recognizing phenotypes, exploring genotypes . J Am Coll Cardiol . 2015 ;65 (13 ):1337 1339 .

    • Search Google Scholar
    • Export Citation
  • 12

    Pinard A , Jones GT , Milewicz DM . Genetics of thoracic and abdominal aortic diseases . Circ Res . 2019 ;124 (4 ):588 606 .

  • 13

    Norrgård O , Angqvist KA , Fodstad H , et al. Co-existence of abdominal aortic aneurysms and intracranial aneurysms . Acta Neurochir (Wien) . 1987 ;87 (1-2 ):34 39 .

    • Search Google Scholar
    • Export Citation
  • 14

    Goyal MS , Gottumukkala R , Bhalla S , et al. Bicuspid aortic valves and thoracic aortic aneurysms in patients with intracranial aneurysms . Neurology . 2015 ;84 (1 ):46 49 .

    • Search Google Scholar
    • Export Citation
  • 15

    Kim ST , Brinjikji W , Kallmes DF . Prevalence of intracranial aneurysms in patients with connective tissue diseases: a retrospective study . AJNR Am J Neuroradiol . 2016 ;37 (8 ):1422 1426 .

    • Search Google Scholar
    • Export Citation
  • 16

    Brown CR , Greenberg RK , Wong S , et al. Family history of aortic disease predicts disease patterns and progression and is a significant influence on management strategies for patients and their relatives . J Vasc Surg . 2013 ;58 (3 ):573 581 .

    • Search Google Scholar
    • Export Citation
  • 17

    Loughborough WW , Minhas KS , Rodrigues JCL , et al. Cardiovascular manifestations and complications of Loeys-Dietz syndrome: CT and MR imaging findings . Radiographics . 2018 ;38 (1 ):275 286 .

    • Search Google Scholar
    • Export Citation
  • 18

    Loeys BL , Chen J , Neptune ER , et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 . Nat Genet . 2005 ;37 (3 ):275 281 .

    • Search Google Scholar
    • Export Citation
  • 19

    Jondeau G , Ropers J , Regalado E , et al. International registry of patients carrying TGFBR1 or TGFBR2 mutations: results of the MAC (Montalcino Aortic Consortium) . Circ Cardiovasc Genet . 2016 ;9 (6 ):548 558 .

    • Search Google Scholar
    • Export Citation
  • 20

    Loeys BL , Schwarze U , Holm T , et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor . N Engl J Med . 2006 ;355 (8 ):788 798 .

    • Search Google Scholar
    • Export Citation
  • 21

    MacCarrick G , Black JH III , Bowdin S , et al. Loeys-Dietz syndrome: a primer for diagnosis and management . Genet Med . 2014 ;16 (8 ):576 587 .

    • Search Google Scholar
    • Export Citation
  • 22

    Rodrigues VJ , Elsayed S , Loeys BL , et al. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1 . AJNR Am J Neuroradiol . 2009 ;30 (8 ):1614 1619 .

    • Search Google Scholar
    • Export Citation
  • 23

    Regalado ES , Guo D-C , Villamizar C , et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms . Circ Res . 2011 ;109 (6 ):680 686 .

    • Search Google Scholar
    • Export Citation
  • 24

    van de Laar IMBH , van der Linde D , Oei EHG , et al. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome . J Med Genet . 2012 ;49 (1 ):47 57 .

    • Search Google Scholar
    • Export Citation
  • 25

    Boileau C , Guo D-C , Hanna N , et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome . Nat Genet . 2012 ;44 (8 ):916 921 .

    • Search Google Scholar
    • Export Citation
  • 26

    Bertoli-Avella AM , Gillis E , Morisaki H , et al. Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections . J Am Coll Cardiol . 2015 ;65 (13 ):1324 1336 .

    • Search Google Scholar
    • Export Citation
  • 27

    Zentner D , James P , Bannon P , Jeremy R . Familial aortopathies - state of the art review . Heart Lung Circ . 2020 ;29 (4 ):607 618 .

    • Search Google Scholar
    • Export Citation
  • 28

    Pyeritz RE . Recent progress in understanding the natural and clinical histories of the Marfan syndrome . Trends Cardiovasc Med . 2016 ;26 (5 ):423 428 .

    • Search Google Scholar
    • Export Citation
  • 29

    Kim ST , Cloft H , Flemming KD , et al. Increased prevalence of cerebrovascular disease in hospitalized patients with Marfan syndrome . J Stroke Cerebrovasc Dis . 2018 ;27 (2 ):296 300 .

    • Search Google Scholar
    • Export Citation
  • 30

    Loeys BL , Dietz HC , Braverman AC , et al. The revised Ghent nosology for the Marfan syndrome . J Med Genet . 2010 ;47 (7 ):476 485 .

    • Search Google Scholar
    • Export Citation
  • 31

    Saeyeldin A , Zafar MA , Velasquez CA , et al. Natural history of aortic root aneurysms in Marfan syndrome . Ann Cardiothorac Surg . 2017 ;6 (6 ):625 632 .

    • Search Google Scholar
    • Export Citation
  • 32

    Li N , Zhang Y , Gao Y , et al. Long-term outcomes of surgical procedures for Marfan syndrome: aortic dissection versus aneurysm . J Thorac Dis . 2020 ;12 (3 ):249 257 .

    • Search Google Scholar
    • Export Citation
  • 33

    Conway JE , Hutchins GM , Tamargo RJ . Marfan syndrome is not associated with intracranial aneurysms . Stroke . 1999 ;30 (8 ):1632 1636 .

    • Search Google Scholar
    • Export Citation
  • 34

    von Kodolitsch Y , Demolder A , Girdauskas E , et al. Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease . Expert Rev Cardiovasc Ther . 2019 ;17 (12 ):883 915 .

    • Search Google Scholar
    • Export Citation
  • 35

    Yetman AT , Roosevelt GE , Veit N , Everitt MD . Distal aortic and peripheral arterial aneurysms in patients with Marfan syndrome . J Am Coll Cardiol . 2011 ;58 (24 ):2544 2545 .

    • Search Google Scholar
    • Export Citation
  • 36

    Olubajo F , Kaliaperumal C , Choudhari KA . Vascular Ehlers-Danlos syndrome: literature review and surgical management of intracranial vascular complications . Clin Neurol Neurosurg . 2020 ;193 :105775 .

    • Search Google Scholar
    • Export Citation
  • 37

    Malfait F , Francomano C , Byers P , et al. The 2017 international classification of the Ehlers-Danlos syndromes . Am J Med Genet C Semin Med Genet . 2017 ;175 (1 ):8 26 .

    • Search Google Scholar
    • Export Citation
  • 38

    Byers PH . Vascular Ehlers-Danlos syndrome . In: Adam MP , Ardinger HH , Pagon RA , et al. , eds. GeneReviews . University of Washington , Seattle ; 2019 .

    • Search Google Scholar
    • Export Citation
  • 39

    Pepin M , Schwarze U , Superti-Furga A , Byers PH . Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type . N Engl J Med . 2000 ;342 (10 ):673 680 .

    • Search Google Scholar
    • Export Citation
  • 40

    Schievink WI , Michels VV , Piepgras DG . Neurovascular manifestations of heritable connective tissue disorders. A review . Stroke . 1994 ;25 (4 ):889 903 .

    • Search Google Scholar
    • Export Citation
  • 41

    Shalhub S , Byers PH , Hicks KL , et al. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome . J Vasc Surg . 2019 ;70 (5 ):1543 1554 .

    • Search Google Scholar
    • Export Citation
  • 42

    Forlodou P , de Kersaint-Gilly A , Pizzanelli J , et al. Ehlers-Danlos syndrome with a spontaneous caroticocavernous fistula occluded by detachable balloon: case report and review of literature . Neuroradiology . 1996 ;38 (6 ):595 597 .

    • Search Google Scholar
    • Export Citation
  • 43

    Schievink WI , Link MJ , Piepgras DG , Spetzler RF . Intracranial aneurysm surgery in Ehlers-Danlos syndrome Type IV . Neurosurgery . 2002 ;51 (3 ):607 611 .

    • Search Google Scholar
    • Export Citation
  • 44

    Byers PH , Belmont J , Black J , et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome . Am J Med Genet C Semin Med Genet . 2017 ;175 (1 ):40 47 .

    • Search Google Scholar
    • Export Citation
  • 45

    Cornec-Le Gall E , Alam A , Perrone RD . Autosomal dominant polycystic kidney disease . Lancet . 2019 ;393 (10174 ):919 935 .

  • 46

    Harris PC , Torres VE . Polycystic kidney disease, autosomal dominant . In: Adam MP , Ardinger HH , Pagon RA , et al. , eds. GeneReviews . University of Washington, Seattle ; 2018. Accessed September 28, 2020. https://www.ncbi.nlm.nih.gov/books/NBK1246/

    • Search Google Scholar
    • Export Citation
  • 47

    Pirson Y , Chauveau D , Torres V . Management of cerebral aneurysms in autosomal dominant polycystic kidney disease . J Am Soc Nephrol . 2002 ;13 (1 ):269 276 .

    • Search Google Scholar
    • Export Citation
  • 48

    Sung P-H , Yang Y-H , Chiang H-J , et al. Risk of aortic aneurysm and dissection in patients with autosomal-dominant polycystic kidney disease: a nationwide population-based cohort study . Oncotarget . 2017 ;8 (34 ):57594 57604 .

    • Search Google Scholar
    • Export Citation
  • 49

    Xu HW , Yu SQ , Mei CL , Li MH . Screening for intracranial aneurysm in 355 patients with autosomal-dominant polycystic kidney disease . Stroke . 2011 ;42 (1 ):204 206 .

    • Search Google Scholar
    • Export Citation
  • 50

    Chapman AB , Devuyst O , Eckardt K-U , et al. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference . Kidney Int . 2015 ;88 (1 ):17 27 .

    • Search Google Scholar
    • Export Citation
  • 51

    Flahault A , Joly D . Screening for intracranial aneurysms in patients with autosomal dominant polycystic kidney disease . Clin J Am Soc Nephrol . 2019 ;14 (8 ):1242 1244 .

    • Search Google Scholar
    • Export Citation
  • 52

    Kresak JL , Walsh M . Neurofibromatosis: a review of NF1, NF2, and schwannomatosis . J Pediatr Genet . 2016 ;5 (2 ):98 104 .

  • 53

    Oderich GS , Sullivan TM , Bower TC , et al. Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results . J Vasc Surg . 2007 ;46 (3 ):475 484 .

    • Search Google Scholar
    • Export Citation
  • 54

    Friedman JM , Arbiser J , Epstein JA , et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force . Genet Med . 2002 ;4 (3 ):105 111 .

    • Search Google Scholar
    • Export Citation
  • 55

    Li F , Downing BD , Smiley LC , et al. Neurofibromin-deficient myeloid cells are critical mediators of aneurysm formation in vivo . Circulation . 2014 ;129 (11 ):1213 1224 .

    • Search Google Scholar
    • Export Citation
  • 56

    Rosser TL , Vezina G , Packer RJ . Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1 . Neurology . 2005 ;64 (3 ):553 555 .

    • Search Google Scholar
    • Export Citation
  • 57

    Abdulrazeq HF , Goldstein IM , Elsamna ST , Pletcher BA . Vertebral artery aneurysm rupture and hemothorax in a patient with neurofibromatosis type-1: a case report and review of the literature . Heliyon . 2019 ;5 (8 ):e02201 .

    • Search Google Scholar
    • Export Citation
  • 58

    Takeshima Y , Kaku Y , Nishi T , et al. Multiple cerebral aneurysms associated with neurofibromatosis type 1 . J Stroke Cerebrovasc Dis . 2019 ;28 (7 ):e83 e91 .

    • Search Google Scholar
    • Export Citation
  • 59

    Randle SC . Tuberous sclerosis complex: a review . Pediatr Ann . 2017 ;46 (4 ):e166 e171 .

  • 60

    Curatolo P , Bombardieri R , Jozwiak S . Tuberous sclerosis . Lancet . 2008 ;372 (9639 ):657 668 .

  • 61

    Boronat S , Barber I . Less common manifestations in TSC . Am J Med Genet C Semin Med Genet . 2018 ;178 (3 ):348 354 .

  • 62

    Ho K-L . Intraventricular aneurysm associated with tuberous sclerosis . Arch Neurol . 1980 ;37 (6 ):385 386 .

  • 63

    Guttman M , Tanen SM , Lambert CD . Visual loss secondary to a giant aneurysm in a patient with tuberous sclerosis . Can J Neurol Sci . 1984 ;11 (4 ):472 474 .

    • Search Google Scholar
    • Export Citation
  • 64

    Dueppers P , Duran M , Grabitz K , Schelzig H . Open repair for abdominal aortic aneurysm in a young boy with tuberous sclerosis and review of the literature . Ann Vasc Surg . 2017 ;39 :286.e1 286.e5 .

    • Search Google Scholar
    • Export Citation
  • 65

    Boronat S , Shaaya EA , Auladell M , et al. Intracranial arteriopathy in tuberous sclerosis complex . J Child Neurol . 2014 ;29 (7 ):912 919 .

    • Search Google Scholar
    • Export Citation
  • 66

    Jurkiewicz E , Jóźwiak S . Giant intracranial aneurysm in a 9-year-old boy with tuberous sclerosis . Pediatr Radiol . 2006 ;36 (5 ):463 .

    • Search Google Scholar
    • Export Citation
  • 67

    Chihi M , Gembruch O , Darkwah Oppong M , et al. Intracranial aneurysms in patients with tuberous sclerosis complex: a systematic review . J Neurosurg Pediatr . 2019 ;24 (2 ):174 183 .

    • Search Google Scholar
    • Export Citation
  • 68

    van ’t Hof FNG , Ruigrok YM , Lee CH , et al. Shared genetic risk factors of intracranial, abdominal, and thoracic aneurysms . J Am Heart Assoc . 2016 ;5 (7 ):e002603 .

    • Search Google Scholar
    • Export Citation
  • 69

    Worrall BB , Foroud T , Brown RD Jr , et al. Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms . Stroke . 2009 ;40 (1 ):71 76 .

    • Search Google Scholar
    • Export Citation
  • 70

    Helgadottir A , Thorleifsson G , Magnusson KP , et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm . Nat Genet . 2008 ;40 (2 ):217 224 .

    • Search Google Scholar
    • Export Citation
  • 71

    Bradley TJ , Bowdin SC , Morel CFJ , Pyeritz RE . The expanding clinical spectrum of extracardiovascular and cardiovascular manifestations of heritable thoracic aortic aneurysm and dissection . Can J Cardiol . 2016 ;32 (1 ):86 99 .

    • Search Google Scholar
    • Export Citation
  • 72

    Regalado E , Medrek S , Tran-Fadulu V , et al. Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms . Am J Med Genet A . 2011 ;155A (9 ):2125 2130 .

    • Search Google Scholar
    • Export Citation
  • 73

    Regalado ES , Guo D-C , Prakash S , et al. Aortic disease presentation and outcome associated with ACTA2 mutations . Circ Cardiovasc Genet . 2015 ;8 (3 ):457 464 .

    • Search Google Scholar
    • Export Citation
  • 74

    Shin Y-W , Jung K-H , Moon J , et al. Site-specific relationship between intracranial aneurysm and aortic aneurysm . Stroke . 2015 ;46 (7 ):1993 1996 .

    • Search Google Scholar
    • Export Citation
  • 75

    Morris SA , Orbach DB , Geva T , et al. Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders . Circulation . 2011 ;124 (4 ):388 396 .

    • Search Google Scholar
    • Export Citation

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