Marfan syndrome - Revision history

Danbot: Strip excess bold

2026-03-22T09:37:30Z

Strip excess bold

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	====Acute Aortic Syndrome (AAS)====		====Acute Aortic Syndrome (AAS)====
	* A high index of suspicion for AAS in the ED setting is critical in MFS when symptoms or signs of this life-threatening complication occur.		* A high index of suspicion for AAS in the ED setting is critical in MFS when symptoms or signs of this life-threatening complication occur.
	* ~~'''~~Key Elements:~~'''~~		* Key Elements:
	** Sudden onset of severe, “thunderclap” quality, potentially “tearing” and/or migratory chest, neck, abdominal, and/or back pain		** Sudden onset of severe, “thunderclap” quality, potentially “tearing” and/or migratory chest, neck, abdominal, and/or back pain
	** Young patients with few traditional cardiovascular risk factors		** Young patients with few traditional cardiovascular risk factors
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	* Clinical decision-making tools and algorithms are available (e.g., ADvISED Trial ADD-RS + D-dimer, AORTAs Algorithms), but are not yet externally validated (see images).<ref>Pena RCF, Hofmann Bowman MA, Ohle R, et al. Algorithms and clinical-decision-making tools for ruling out acute aortic syndrome in the Emergency Department: A narrative review. Italian Journal of Vascular Surgery. 2024;31(1):42-53. doi:10.23736/S1824-4777.23.01623-6</ref>		* Clinical decision-making tools and algorithms are available (e.g., ADvISED Trial ADD-RS + D-dimer, AORTAs Algorithms), but are not yet externally validated (see images).<ref>Pena RCF, Hofmann Bowman MA, Ohle R, et al. Algorithms and clinical-decision-making tools for ruling out acute aortic syndrome in the Emergency Department: A narrative review. Italian Journal of Vascular Surgery. 2024;31(1):42-53. doi:10.23736/S1824-4777.23.01623-6</ref>
	* Basic labs, [[troponin]], [[D-dimer]]		* Basic labs, [[troponin]], [[D-dimer]]
	** ~~'''~~Important Note:~~'''~~ [[D-dimer]] is not 100% sensitive and cannot exclude all acute aortic syndromes		** Important Note: [[D-dimer]] is not 100% sensitive and cannot exclude all acute aortic syndromes
	* [[EKG]], [[CXR]]		* [[EKG]], [[CXR]]
	* CTA / MRA aortic protocol (with IV contrast)		* CTA / MRA aortic protocol (with IV contrast)
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	===Diagnosis===		===Diagnosis===
	==== Revised Ghent Nosology (2010)<ref name="MarfanFoundation2025">The Marfan Foundation. (2025, May 21). The Marfan Foundation \| Know the Signs \| Fight for Victory. Marfan Foundation. https://marfan.org/</ref>====		==== Revised Ghent Nosology (2010)<ref name="MarfanFoundation2025">The Marfan Foundation. (2025, May 21). The Marfan Foundation \| Know the Signs \| Fight for Victory. Marfan Foundation. https://marfan.org/</ref>====
	~~'''~~In the absence of family history:~~'''~~		In the absence of family history:
	* Aortic Root Dilatation Z Score > 2 ~~'''~~and~~'''~~ Ectopia Lentis		* Aortic Root Dilatation Z Score > 2 and Ectopia Lentis
	* Aortic Root Dilatation Z Score > 2 ~~'''~~and~~'''~~ FBN1 Mutation		* Aortic Root Dilatation Z Score > 2 and FBN1 Mutation
	* Aortic Root Dilatation Z Score > 2 ~~'''~~and~~'''~~ Systemic Score > 7 points		* Aortic Root Dilatation Z Score > 2 and Systemic Score > 7 points
	* Ectopia Lentis ~~'''~~and~~'''~~ FBN1 Mutation (associated with aortic root dilatation)		* Ectopia Lentis and FBN1 Mutation (associated with aortic root dilatation)

	~~'''~~In the presence of family history:~~'''~~		In the presence of family history:
	* Ectopia Lentis ~~'''~~and~~'''~~ Family History of MFS		* Ectopia Lentis and Family History of MFS
	* Systemic Score > 7 points ~~'''~~and~~'''~~ Family History of MFS		* Systemic Score > 7 points and Family History of MFS
	* Aortic Root Dilatation Z Score > 2 (above 20 years old), > 3 (below 20 years old) ~~'''~~and~~'''~~ Family History of MFS		* Aortic Root Dilatation Z Score > 2 (above 20 years old), > 3 (below 20 years old) and Family History of MFS

	{{Aortic dissection classification}}		{{Aortic dissection classification}}
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	==Management==		==Management==
	===Medications===		===Medications===
	* ~~'''~~[[Beta-Blocker]] and/or [[Angiotensin II Type 1 Receptor Blocker]] (ARB) Therapy~~'''~~		* [[Beta-Blocker]] and/or [[Angiotensin II Type 1 Receptor Blocker]] (ARB) Therapy
	** Beta-blockade lowers blood pressure / heart rate and reduces aortic wall shearing forces to reduce the rate of aortic aneurysm growth and risk of dissection		** Beta-blockade lowers blood pressure / heart rate and reduces aortic wall shearing forces to reduce the rate of aortic aneurysm growth and risk of dissection
	** Inhibition of ATII Type 1 Receptor-mediated TGF-beta signaling may reduce elastic tissue degeneration based upon mouse models.<ref>Pena RCF, Hofmann Bowman MA, Ahmad M, et al. An assessment of the current medical management of thoracic aortic disease: A patient-centered scoping literature review. Seminars in Vasc Surg. 2022;25(1):16-34. doi:10.1053/j.semvascsurg.2022.02.007</ref>		** Inhibition of ATII Type 1 Receptor-mediated TGF-beta signaling may reduce elastic tissue degeneration based upon mouse models.<ref>Pena RCF, Hofmann Bowman MA, Ahmad M, et al. An assessment of the current medical management of thoracic aortic disease: A patient-centered scoping literature review. Seminars in Vasc Surg. 2022;25(1):16-34. doi:10.1053/j.semvascsurg.2022.02.007</ref>
	* ~~'''~~Other Pharmacologic Considerations~~'''~~		* Other Pharmacologic Considerations
	** Avoid [[fluoroquinolones]] (FQs) due to matrix metalloproteinase activation and increased risk of aortic aneurysm/dissection		** Avoid [[fluoroquinolones]] (FQs) due to matrix metalloproteinase activation and increased risk of aortic aneurysm/dissection
	*** Chen S-W et al. (2023) did not show a significant increase in aortic aneurysm/dissection (OR 1.000) in MFS and other high-risk patients after FQ administration.<ref>Chen S-W, Lin C-P, Chan Y-H, et al. Fluoroquinolones and risk of aortic aneurysm or dissection in patients with congenital aortic disease and Marfan Syndrome. Circ J. 2023;87(9):1164-1172. doi:10.1253/circj.cj-22-0682</ref>		*** Chen S-W et al. (2023) did not show a significant increase in aortic aneurysm/dissection (OR 1.000) in MFS and other high-risk patients after FQ administration.<ref>Chen S-W, Lin C-P, Chan Y-H, et al. Fluoroquinolones and risk of aortic aneurysm or dissection in patients with congenital aortic disease and Marfan Syndrome. Circ J. 2023;87(9):1164-1172. doi:10.1253/circj.cj-22-0682</ref>

Rossdonaldson1: /* Clinical Features */

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Clinical Features

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	[[File:MarfanChest.jpg\|thumb\|Pectus excavatum in a person with Marfan syndrome.]]		[[File:MarfanChest.jpg\|thumb\|Pectus excavatum in a person with Marfan syndrome.]]
	[[File:Marfan Patient.jpeg\|thumb\|]]		[[File:Marfan Patient.jpeg\|thumb\|]]
			[[File:Ectopia Lentis in Marfan syndrome.jpg\|thumb\|Ectopia lentis in Marfan syndrome with Zonular fibers seen.]]
	===Physical Findings===		===Physical Findings===
	''Not all may be present''		''Not all may be present''

Rossdonaldson1: /* Clinical Features */

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Clinical Features

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	==Clinical Features==		==Clinical Features==
	[[File:MarfanChest.jpg\|thumb\|Pectus excavatum in a person with Marfan syndrome.]]		[[File:MarfanChest.jpg\|thumb\|Pectus excavatum in a person with Marfan syndrome.]]
			[[File:Marfan Patient.jpeg\|thumb\|]]
	===Physical Findings===		===Physical Findings===
	''Not all may be present''		''Not all may be present''

Rossdonaldson1: /* Clinical Features */

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Clinical Features

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	==Clinical Features==		==Clinical Features==
			[[File:MarfanChest.jpg\|thumb\|Pectus excavatum in a person with Marfan syndrome.]]
	===Physical Findings===		===Physical Findings===
	''Not all may be present''		''Not all may be present''

Rossdonaldson1: /* Clinical Features */

2025-09-10T16:54:04Z

Clinical Features

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	==Clinical Features==		==Clinical Features==
	[[File:Types_of_Dissections.jpg\|thumb\|Classification of [[Aortic Dissection]] using Stanford and DeBakey systems.<ref>Awal SS, Prasad N, Biswas S. CT evaluation of aortic dissection and other acute aortic syndromes: An Update. Int J Radiol Radiat Ther. 2022;9(5):159‒165. DOI: 10.15406/ijrrt.2022.09.00343</ref>]]
	===Physical Findings===		===Physical Findings===
	''Not all may be present''		''Not all may be present''

Rossdonaldson1: /* Diagnosis */

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Diagnosis

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	* Systemic Score > 7 points '''and''' Family History of MFS		* Systemic Score > 7 points '''and''' Family History of MFS
	* Aortic Root Dilatation Z Score > 2 (above 20 years old), > 3 (below 20 years old) '''and''' Family History of MFS		* Aortic Root Dilatation Z Score > 2 (above 20 years old), > 3 (below 20 years old) '''and''' Family History of MFS

			{{Aortic dissection classification}}

	==Management==		==Management==

Rossdonaldson1: /* Disposition */

2025-09-10T16:45:25Z

Disposition

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	==Disposition==		==Disposition==
	* Disposition depends ~~entirely~~ upon the chief complaint, clinical gestalt, and objective findings from physical exam and workup.		* Disposition depends upon the chief complaint, clinical gestalt, and objective findings from physical exam and workup.

	== See Also ==		== See Also ==

Rossdonaldson1: /* Disposition */

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Disposition

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	* Standard-of-care treatment for other associated pathologies		* Standard-of-care treatment for other associated pathologies

	===Disposition===		==Disposition==
	* Disposition depends entirely upon the chief complaint, clinical gestalt, and objective findings from physical exam and workup.		* Disposition depends entirely upon the chief complaint, clinical gestalt, and objective findings from physical exam and workup.

Rossdonaldson1: /* Medications */

2025-09-10T16:44:17Z

Medications

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	** Inhibition of ATII Type 1 Receptor-mediated TGF-beta signaling may reduce elastic tissue degeneration based upon mouse models.<ref>Pena RCF, Hofmann Bowman MA, Ahmad M, et al. An assessment of the current medical management of thoracic aortic disease: A patient-centered scoping literature review. Seminars in Vasc Surg. 2022;25(1):16-34. doi:10.1053/j.semvascsurg.2022.02.007</ref>		** Inhibition of ATII Type 1 Receptor-mediated TGF-beta signaling may reduce elastic tissue degeneration based upon mouse models.<ref>Pena RCF, Hofmann Bowman MA, Ahmad M, et al. An assessment of the current medical management of thoracic aortic disease: A patient-centered scoping literature review. Seminars in Vasc Surg. 2022;25(1):16-34. doi:10.1053/j.semvascsurg.2022.02.007</ref>
	* '''Other Pharmacologic Considerations'''		* '''Other Pharmacologic Considerations'''
	** ~~Avoidance of~~ [[fluoroquinolones]] (FQs) due to matrix metalloproteinase activation and increased risk of aortic aneurysm/dissection		** Avoid [[fluoroquinolones]] (FQs) due to matrix metalloproteinase activation and increased risk of aortic aneurysm/dissection
	*** Chen S-W et al. (2023) did not show a significant increase in aortic aneurysm/dissection (OR 1.000) in MFS and other high-risk patients after FQ administration.<ref>Chen S-W, Lin C-P, Chan Y-H, et al. Fluoroquinolones and risk of aortic aneurysm or dissection in patients with congenital aortic disease and Marfan Syndrome. Circ J. 2023;87(9):1164-1172. doi:10.1253/circj.cj-22-0682</ref>		*** Chen S-W et al. (2023) did not show a significant increase in aortic aneurysm/dissection (OR 1.000) in MFS and other high-risk patients after FQ administration.<ref>Chen S-W, Lin C-P, Chan Y-H, et al. Fluoroquinolones and risk of aortic aneurysm or dissection in patients with congenital aortic disease and Marfan Syndrome. Circ J. 2023;87(9):1164-1172. doi:10.1253/circj.cj-22-0682</ref>
	*** Gopalakrishnan et al. (2020) showed a significant increase in aortic aneurysm/dissection in patients receiving FQs for pneumonia (HR 2.57, p<0.01%), but not UTIs (HR 0.99, p<0.01%). This suggests intrathoracic inflammation from the primary disease pathology, not FQs themselves, increase the risk of aneurysm or dissection.<ref>Gopalakrishnan C, Bykov K, Fischer MA, et al. Association of fluoroquinolones with the risk of aortic aneurysm or [[aortic dissection]]. JAMA Intern Med. 2020;180(12):1596-1605. doi:10.1001/jamainternmed.2020.4199</ref>		*** Gopalakrishnan et al. (2020) showed a significant increase in aortic aneurysm/dissection in patients receiving FQs for pneumonia (HR 2.57, p<0.01%), but not UTIs (HR 0.99, p<0.01%). This suggests intrathoracic inflammation from the primary disease pathology, not FQs themselves, increase the risk of aneurysm or dissection.<ref>Gopalakrishnan C, Bykov K, Fischer MA, et al. Association of fluoroquinolones with the risk of aortic aneurysm or [[aortic dissection]]. JAMA Intern Med. 2020;180(12):1596-1605. doi:10.1001/jamainternmed.2020.4199</ref>

Rossdonaldson1: /* Revised Ghent Nosology (2010)The Marfan Foundation. (2025, May 21). The Marfan Foundation | Know the Signs | Fight for Victory. Marfan Foundation. https://marfan.org/ */

2025-09-10T16:42:38Z

Revised Ghent Nosology (2010)The Marfan Foundation. (2025, May 21). The Marfan Foundation | Know the Signs | Fight for Victory. Marfan Foundation. https://marfan.org/

← Older revision		Revision as of 16:42, 10 September 2025
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	'''In the presence of family history:'''		'''In the presence of family history:'''
	* Ectopia Lentis '''and''' Family History of ~~Marfan Syndrome (~~MFS)		* Ectopia Lentis '''and''' Family History of MFS
	* Systemic Score > 7 points '''and''' Family History of MFS		* Systemic Score > 7 points '''and''' Family History of MFS
	* Aortic Root Dilatation Z Score > 2 (above 20 years old), > 3 (below 20 years old) '''and''' Family History of MFS		* Aortic Root Dilatation Z Score > 2 (above 20 years old), > 3 (below 20 years old) '''and''' Family History of MFS