Marfan syndrome associated with aortic dissection, venous thromboembolism and hyperhomocysteinemia

被引：0

作者：

Herrera, Ramon N. ^{[1
]}

Miotti, Julio A. ^{[1
]}

Pereyra, Aldo S. ^{[1
]}

Lobo, Maria V. ^{[1
]}

Ibarra, Mariela T. ^{[1
]}

Tome Guzman, Andres F. ^{[1
]}

机构：

[1] Hosp Ctr Salud Zenon J Santillan, San Miguel De Tucuman, Tucuman, Argentina

来源：

MEDICINA-BUENOS AIRES | 2012年 / 72卷 / 06期

关键词：

Marfan syndrome; aortic dissection; venous thromboembolism; hyperhomocysteinemia; HOMOCYSTEINE; MTHFR;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Marfan syndrome associated with aortic dissection, venous thromboembolism and hyperhomocysteinemia. Marfan syndrome is an infrequent genetic disorder of connective tissue whose clinical manifestations mainly affect the cardiovascular, ocular and musculoskeletal systems. Serious cardiovascular manifestations are generally the cause of mortality of Marfan patients. Thromboembolic venous disease is intimately related to different risk factors: inherited, acquired, mixed or unknown; hyperhomocysteinemia is a moderate risk factor for venous thromboembolism. We present the case of a 47-year-old woman with Marfan syndrome associated to a painless type A aortic dissection, who simultaneously suffered venous thromboembolism of left upper and lower limbs with pulmonary embolism. Hyperhomocysteinemia was found through thrombofilia screening. The patient's condition has evolved favorably.

引用

页码：478 / 480

页数：3

共 10 条

[1] Molecular genetics of Marfan syndrome [J].

Boileau, C ;

Jondeau, G ;

Mizuguchi, T ;

Matsumoto, N .

CURRENT OPINION IN CARDIOLOGY, 2005, 20 (03) :194-200

[2] Homocysteine, MTHFR and risk of venous thrombosis:: a meta-analysis of published epidemiological studies [J].

Den Heijer, M ;

Lewington, S ;

Clarke, R .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2005, 3 (02) :292-299

[3] Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations:: An international study [J].

Faivre, L. ;

Collod-Beroud, G. ;

Loeys, B. L. ;

Child, A. ;

Binquet, C. ;

Gautier, E. ;

Callewaert, B. ;

Arbustini, E. ;

Mayer, K. ;

Arslan-Kirchner, M. ;

Kiotsekoglou, A. ;

Comeglio, P. ;

Marziliano, N. ;

Dietz, H. C. ;

Halliday, D. ;

Beroud, C. ;

Bonithon-Kopp, C. ;

Claustres, M. ;

Muti, C. ;

Plauchu, H. ;

Robinson, P. N. ;

Ades, L. C. ;

Biggin, A. ;

Benetts, B. ;

Brett, M. ;

Holman, K. J. ;

De Backer, J. ;

Coucke, P. ;

Francke, U. ;

De Paepe, A. ;

Jondeau, G. ;

Boileau, C. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (03) :454-466

[4] Phenotypic variability of cardiovascular manifestations in Marfan Syndrome - Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism [J].

Giusti, B ;

Porciani, MC ;

Brunelli, T ;

Evangelisti, L ;

Fedi, S ;

Gensini, GF ;

Abbate, R ;

Sani, G ;

Yacoub, M ;

Pepe, G .

EUROPEAN HEART JOURNAL, 2003, 24 (22) :2038-2045

[5] RELATION BETWEEN AGE, ARTERIAL DISTENSIBILITY, AND AORTIC DILATATION IN THE MARFAN-SYNDROME [J].

JEREMY, RW ;

HUANG, H ;

HWA, J ;

MCCARRON, H ;

HUGHES, CF ;

RICHARDS, JG .

AMERICAN JOURNAL OF CARDIOLOGY, 1994, 74 (04) :369-373

[6] The revised Ghent nosology for the Marfan syndrome [J].

Loeys, Bart L. ;

Dietz, Harry C. ;

Braverman, Alan C. ;

Callewaert, Bert L. ;

De Backer, Julie ;

Devereux, Richard B. ;

Hilhorst-Hofstee, Yvonne ;

Jondeau, Guillaume ;

Faivre, Laurence ;

Milewicz, Dianna M. ;

Pyeritz, Reed E. ;

Sponseller, Paul D. ;

Wordsworth, Paul ;

De Paepe, Anne M. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (07) :476-485

[7] Clinical Significance and Impact of "Painless" Acute Aortic Dissection [J].

Matsuo, Hiroshi .

CIRCULATION JOURNAL, 2011, 75 (01) :47-48

[8] Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome [J].

Neptune, ER ;

Frischmeyer, PA ;

Arking, DE ;

Myers, L ;

Bunton, TE ;

Gayraud, B ;

Ramirez, F ;

Sakai, LY ;

Dietz, HC .

NATURE GENETICS, 2003, 33 (03) :407-411

[9]

Stanger O, 2004, Z KARDIOL, V93, P439, DOI 10.1007/s00392-004-0075-3

[10] High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia [J].

Zittan, E. ;

Preis, M. ;

Asmir, I. ;

Cassel, A. ;

Lindenfeld, N. ;

Alroy, S. ;

Halon, D. A. ;

Lewis, B. S. ;

Shiran, A. ;

Schliamser, J. E. ;

Flugelman, M. Y. .

AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 2007, 293 (01) :H860-H865

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