Vertebral artery dissection caused by atlantoaxial dislocation in a patient with Marfan syndrome
A small number of case reports have documented a link between atlantoaxial dislocation (AAD) and vertebral artery dissection (VAD), but this association has never been described in patients with hereditary connective tissue disorders. We present a case of an 18‐year‐old female patient, diagnosed wit...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2024-03, Vol.194 (3), p.e63467-n/a |
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| container_title | American journal of medical genetics. Part A |
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| creator | Vornetti, Gianfranco Renzetti, Benedetta Vara, Giulio Tonon, Caterina Lodi, Raffaele Conti, Alfredo Serchi, Elena Donti, Andrea Mariucci, Elisabetta Spinardi, Luca |
| description | A small number of case reports have documented a link between atlantoaxial dislocation (AAD) and vertebral artery dissection (VAD), but this association has never been described in patients with hereditary connective tissue disorders. We present a case of an 18‐year‐old female patient, diagnosed with Marfan syndrome since the age of one, who underwent brain MRA for intracranial aneurysm screening revealing tortuosity of the internal carotid and vertebral arteries as well as atlantoaxial dislocation. Since the patient was asymptomatic, a wait‐and‐see approach was chosen, but a follow‐up MRA after 18 months showed the appearance of a dissecting pseudoaneurysm of the V3 segment of the left vertebral artery. Despite the patient being still asymptomatic, it was decided to proceed with C1–C2 stabilization to prevent further vascular complications. Follow‐up imaging showed realignment of the atlantoaxial joint and reduction of the dissecting pseudoaneurysm of the left vertebral artery. In our patient, screening MRA has led to the discovery of asymptomatic arterial and skeletal abnormalities which, if left untreated, might have led to severe cerebrovascular complications. Therefore, AAD correction or close monitoring with MRA should be provided to MFS patients with this craniovertebral junction anomaly, even if asymptomatic. |
| doi_str_mv | 10.1002/ajmg.a.63467 |
| format | Article |
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We present a case of an 18‐year‐old female patient, diagnosed with Marfan syndrome since the age of one, who underwent brain MRA for intracranial aneurysm screening revealing tortuosity of the internal carotid and vertebral arteries as well as atlantoaxial dislocation. Since the patient was asymptomatic, a wait‐and‐see approach was chosen, but a follow‐up MRA after 18 months showed the appearance of a dissecting pseudoaneurysm of the V3 segment of the left vertebral artery. Despite the patient being still asymptomatic, it was decided to proceed with C1–C2 stabilization to prevent further vascular complications. Follow‐up imaging showed realignment of the atlantoaxial joint and reduction of the dissecting pseudoaneurysm of the left vertebral artery. In our patient, screening MRA has led to the discovery of asymptomatic arterial and skeletal abnormalities which, if left untreated, might have led to severe cerebrovascular complications. Therefore, AAD correction or close monitoring with MRA should be provided to MFS patients with this craniovertebral junction anomaly, even if asymptomatic.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 1552-4833</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.63467</identifier><identifier>PMID: 37933544</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Aneurysm, False - diagnosis ; Aneurysm, False - diagnostic imaging ; arterial tortuosity ; Arteries ; Asymptomatic ; atlantoaxial dislocation ; Bone diseases ; Case reports ; Connective tissues ; Dislocation ; Female ; Humans ; Intracranial Aneurysm ; Joint Dislocations - complications ; Joint Dislocations - diagnosis ; magnetic resonance angiography ; Marfan syndrome ; Marfan Syndrome - complications ; Marfan Syndrome - diagnosis ; Neuroimaging ; Pseudoaneurysm ; Spine (cervical) ; Veins & arteries ; Vertebrae ; Vertebral Artery - abnormalities ; Vertebral Artery - diagnostic imaging ; vertebral artery dissection ; Vertebral Artery Dissection - diagnosis ; Vertebral Artery Dissection - diagnostic imaging</subject><ispartof>American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63467-n/a</ispartof><rights>2023 Wiley Periodicals LLC.</rights><rights>2024 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3597-530aef7f44576a987bfb0799bf0883dc36a1b8198f22a6d0ba780dad5ce3d863</cites><orcidid>0000-0001-6409-7962</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.63467$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.63467$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37933544$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vornetti, Gianfranco</creatorcontrib><creatorcontrib>Renzetti, Benedetta</creatorcontrib><creatorcontrib>Vara, Giulio</creatorcontrib><creatorcontrib>Tonon, Caterina</creatorcontrib><creatorcontrib>Lodi, Raffaele</creatorcontrib><creatorcontrib>Conti, Alfredo</creatorcontrib><creatorcontrib>Serchi, Elena</creatorcontrib><creatorcontrib>Donti, Andrea</creatorcontrib><creatorcontrib>Mariucci, Elisabetta</creatorcontrib><creatorcontrib>Spinardi, Luca</creatorcontrib><title>Vertebral artery dissection caused by atlantoaxial dislocation in a patient with Marfan syndrome</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>A small number of case reports have documented a link between atlantoaxial dislocation (AAD) and vertebral artery dissection (VAD), but this association has never been described in patients with hereditary connective tissue disorders. We present a case of an 18‐year‐old female patient, diagnosed with Marfan syndrome since the age of one, who underwent brain MRA for intracranial aneurysm screening revealing tortuosity of the internal carotid and vertebral arteries as well as atlantoaxial dislocation. Since the patient was asymptomatic, a wait‐and‐see approach was chosen, but a follow‐up MRA after 18 months showed the appearance of a dissecting pseudoaneurysm of the V3 segment of the left vertebral artery. Despite the patient being still asymptomatic, it was decided to proceed with C1–C2 stabilization to prevent further vascular complications. Follow‐up imaging showed realignment of the atlantoaxial joint and reduction of the dissecting pseudoaneurysm of the left vertebral artery. In our patient, screening MRA has led to the discovery of asymptomatic arterial and skeletal abnormalities which, if left untreated, might have led to severe cerebrovascular complications. Therefore, AAD correction or close monitoring with MRA should be provided to MFS patients with this craniovertebral junction anomaly, even if asymptomatic.</description><subject>Adolescent</subject><subject>Aneurysm, False - diagnosis</subject><subject>Aneurysm, False - diagnostic imaging</subject><subject>arterial tortuosity</subject><subject>Arteries</subject><subject>Asymptomatic</subject><subject>atlantoaxial dislocation</subject><subject>Bone diseases</subject><subject>Case reports</subject><subject>Connective tissues</subject><subject>Dislocation</subject><subject>Female</subject><subject>Humans</subject><subject>Intracranial Aneurysm</subject><subject>Joint Dislocations - complications</subject><subject>Joint Dislocations - diagnosis</subject><subject>magnetic resonance angiography</subject><subject>Marfan syndrome</subject><subject>Marfan Syndrome - complications</subject><subject>Marfan Syndrome - diagnosis</subject><subject>Neuroimaging</subject><subject>Pseudoaneurysm</subject><subject>Spine (cervical)</subject><subject>Veins & arteries</subject><subject>Vertebrae</subject><subject>Vertebral Artery - abnormalities</subject><subject>Vertebral Artery - diagnostic imaging</subject><subject>vertebral artery dissection</subject><subject>Vertebral Artery Dissection - diagnosis</subject><subject>Vertebral Artery Dissection - diagnostic imaging</subject><issn>1552-4825</issn><issn>1552-4833</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90DtPwzAUBWALgSgUNmZkiYWBFseOY2esKiigViwVq7mJHUiVR7ETlfx73KZ0YEAefIZPR1cHoauAjANC6D2syo8xjCMWRuIInQWc01EoGTs-ZMoH6Ny5FSGMcBGdogETMWM8DM_Q-5uxjUksFBh8sB3WuXMmbfK6wim0zmicdBiaAqqmhu_cQy-KOoUdySsMeO2zqRq8yZtPvACbQYVdV2lbl-YCnWRQOHO5_4do-fiwnD6N5q-z5-lkPkoZj8WIMwImE1kY-gshliLJEiLiOMmIlEynLIIgkUEsM0oh0iQBIYkGzVPDtIzYEN32tWtbf7XGNarMXWoKf7apW6eolFHM_As9vflDV3VrK3-cojFlgvOABl7d9Sq1tXPWZGpt8xJspwKitsOr7fAK1G54z6_3pW1SGn3Av0t7EPZgkxem-7dMTV4Ws0nf-wPdMZAy</recordid><startdate>202403</startdate><enddate>202403</enddate><creator>Vornetti, Gianfranco</creator><creator>Renzetti, Benedetta</creator><creator>Vara, Giulio</creator><creator>Tonon, Caterina</creator><creator>Lodi, Raffaele</creator><creator>Conti, Alfredo</creator><creator>Serchi, Elena</creator><creator>Donti, Andrea</creator><creator>Mariucci, Elisabetta</creator><creator>Spinardi, Luca</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-6409-7962</orcidid></search><sort><creationdate>202403</creationdate><title>Vertebral artery dissection caused by atlantoaxial dislocation in a patient with Marfan syndrome</title><author>Vornetti, Gianfranco ; Renzetti, Benedetta ; Vara, Giulio ; Tonon, Caterina ; Lodi, Raffaele ; Conti, Alfredo ; Serchi, Elena ; Donti, Andrea ; Mariucci, Elisabetta ; Spinardi, Luca</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3597-530aef7f44576a987bfb0799bf0883dc36a1b8198f22a6d0ba780dad5ce3d863</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Adolescent</topic><topic>Aneurysm, False - diagnosis</topic><topic>Aneurysm, False - diagnostic imaging</topic><topic>arterial tortuosity</topic><topic>Arteries</topic><topic>Asymptomatic</topic><topic>atlantoaxial dislocation</topic><topic>Bone diseases</topic><topic>Case reports</topic><topic>Connective tissues</topic><topic>Dislocation</topic><topic>Female</topic><topic>Humans</topic><topic>Intracranial Aneurysm</topic><topic>Joint Dislocations - complications</topic><topic>Joint Dislocations - diagnosis</topic><topic>magnetic resonance angiography</topic><topic>Marfan syndrome</topic><topic>Marfan Syndrome - complications</topic><topic>Marfan Syndrome - diagnosis</topic><topic>Neuroimaging</topic><topic>Pseudoaneurysm</topic><topic>Spine (cervical)</topic><topic>Veins & arteries</topic><topic>Vertebrae</topic><topic>Vertebral Artery - abnormalities</topic><topic>Vertebral Artery - diagnostic imaging</topic><topic>vertebral artery dissection</topic><topic>Vertebral Artery Dissection - diagnosis</topic><topic>Vertebral Artery Dissection - diagnostic imaging</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vornetti, Gianfranco</creatorcontrib><creatorcontrib>Renzetti, Benedetta</creatorcontrib><creatorcontrib>Vara, Giulio</creatorcontrib><creatorcontrib>Tonon, Caterina</creatorcontrib><creatorcontrib>Lodi, Raffaele</creatorcontrib><creatorcontrib>Conti, Alfredo</creatorcontrib><creatorcontrib>Serchi, Elena</creatorcontrib><creatorcontrib>Donti, Andrea</creatorcontrib><creatorcontrib>Mariucci, Elisabetta</creatorcontrib><creatorcontrib>Spinardi, Luca</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vornetti, Gianfranco</au><au>Renzetti, Benedetta</au><au>Vara, Giulio</au><au>Tonon, Caterina</au><au>Lodi, Raffaele</au><au>Conti, Alfredo</au><au>Serchi, Elena</au><au>Donti, Andrea</au><au>Mariucci, Elisabetta</au><au>Spinardi, Luca</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Vertebral artery dissection caused by atlantoaxial dislocation in a patient with Marfan syndrome</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2024-03</date><risdate>2024</risdate><volume>194</volume><issue>3</issue><spage>e63467</spage><epage>n/a</epage><pages>e63467-n/a</pages><issn>1552-4825</issn><issn>1552-4833</issn><eissn>1552-4833</eissn><abstract>A small number of case reports have documented a link between atlantoaxial dislocation (AAD) and vertebral artery dissection (VAD), but this association has never been described in patients with hereditary connective tissue disorders. We present a case of an 18‐year‐old female patient, diagnosed with Marfan syndrome since the age of one, who underwent brain MRA for intracranial aneurysm screening revealing tortuosity of the internal carotid and vertebral arteries as well as atlantoaxial dislocation. Since the patient was asymptomatic, a wait‐and‐see approach was chosen, but a follow‐up MRA after 18 months showed the appearance of a dissecting pseudoaneurysm of the V3 segment of the left vertebral artery. Despite the patient being still asymptomatic, it was decided to proceed with C1–C2 stabilization to prevent further vascular complications. Follow‐up imaging showed realignment of the atlantoaxial joint and reduction of the dissecting pseudoaneurysm of the left vertebral artery. In our patient, screening MRA has led to the discovery of asymptomatic arterial and skeletal abnormalities which, if left untreated, might have led to severe cerebrovascular complications. Therefore, AAD correction or close monitoring with MRA should be provided to MFS patients with this craniovertebral junction anomaly, even if asymptomatic.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>37933544</pmid><doi>10.1002/ajmg.a.63467</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0001-6409-7962</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Aneurysm, False - diagnosis Aneurysm, False - diagnostic imaging arterial tortuosity Arteries Asymptomatic atlantoaxial dislocation Bone diseases Case reports Connective tissues Dislocation Female Humans Intracranial Aneurysm Joint Dislocations - complications Joint Dislocations - diagnosis magnetic resonance angiography Marfan syndrome Marfan Syndrome - complications Marfan Syndrome - diagnosis Neuroimaging Pseudoaneurysm Spine (cervical) Veins & arteries Vertebrae Vertebral Artery - abnormalities Vertebral Artery - diagnostic imaging vertebral artery dissection Vertebral Artery Dissection - diagnosis Vertebral Artery Dissection - diagnostic imaging |
| title | Vertebral artery dissection caused by atlantoaxial dislocation in a patient with Marfan syndrome |
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