Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: Case report of a family with two gene mutations

Internal Medicine

Volumn 48, Issue 7, 2009, Pages 555-558

  Yamawaki, Tohru ^a   Nagaoka, Kazuhiro ^a   Morishige, Kunio ^a   Sadamatsu, Kenji ^a   Tashiro, Hideki ^a   Yasunaga, Hiroshi ^a   Morisaki, Hiroko ^b   Morisaki, Takayuki ^b  

^a ST MARY S HOSPITAL   (Japan)

^b NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

FBN1; Loeys Dietz syndrome; Marfan's syndrome; TGF ; TGFBR2; Thoracic aortic aneurysm and dissection

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA2;

ABDOMINAL AORTA ANEURYSM; ADULT; AGED; AORTA DISSECTION; AORTA VALVE REGURGITATION; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; GENE MUTATION; HUMAN; JAPANESE; LUNG CONGESTION; MALE; MARFAN SYNDROME; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; SYMPTOM; THORACIC AORTA ANEURYSM; THORAX RADIOGRAPHY; TRANSTHORACIC ECHOCARDIOGRAPHY;

ADRENERGIC BETA-ANTAGONISTS; ADULT; AGED; ANEURYSM, DISSECTING; AORTIC ANEURYSM, ABDOMINAL; AORTIC ANEURYSM, THORACIC; AORTIC RUPTURE; CESAREAN SECTION; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; PEDIGREE; PREGNANCY; PREGNANCY COMPLICATIONS, CARDIOVASCULAR; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; TOMOGRAPHY, X-RAY COMPUTED;

EID: 67650022822     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.48.1833     Document Type: Article

References (9)

1. Robinson PN, Arteaga-Solis E, Baldock C, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet 43: 769-787, 2006.
2. Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet 15: 724-733, 2007.
3. Biggin A, Holman K, Brett M, Bennetts B, Ades L. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat 23: 99, 2004.
4. Faivre L, Collod-Beroud G, Loeys BL, et al. 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. Am J Hum Genet 81: 454-466, 2007.
5. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355: 788-798, 2006.
6. Pannu H, Fadulu VT, Chang J, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 112: 513-520, 2005.
7. Sadamatsu K, Tanaka T, Tashiro H, Yasunaga H, Yamamoto K. Intimal flap of ascending aortic dissection with valve-like motion diagnosed by transesophageal echocardiography. Intern Med 44: 1105-1106, 2005.
8. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33: 407-411, 2003.
9. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312: 117-121, 2006.