Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz Syndrome type 1B

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 417-421

  Muramatsu, Yukako ^a   Kosho, Tomoki ^b   Magota, Miyuki ^a   Yokotsuka, Taro ^a   Ito, Masatoki ^a   Yasuda, Ayako ^a   Kito, Osamu ^a   Suzuki, Chizuko ^a   Nagata, Yoshie ^a   Kawai, Satoru ^a   Ikoma, Masanobu ^a   Hatano, Tameo ^a   Nakayama, Masato ^a   Kawamura, Rie ^b   Wakui, Keiko ^b   Morisaki, Hiroko ^c   Morisaki, Takayuki ^c   Fukushima, Yoshimitsu ^b  

^a JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

Aortic root aneurysm; Aortic valve dilation; Intracardiac repair; Loeys Dietz Syndrome; Neonate; Pulmonary artery aneurysm; Pulmonary artery banding; TGFBR2; Type 1B

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

AORTA ANEURYSM; AORTA ROOT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAMPTODACTYLY; CLEFT PALATE; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FLEXION CONTRACTURE; HEART ATRIUM SEPTUM DEFECT; HEART LEFT RIGHT SHUNT; HEART MURMUR; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE DETECTION; HUMAN; INFANT; JOINT LAXITY; LOEYS DIETZ SYNDROME; LUNG ARTERY BANDING; MALE; NEWBORN; PES EQUINOVARUS; PRIORITY JOURNAL; PULMONARY ARTERY ANEURYSM;

ADULT; AORTIC ANEURYSM; AORTIC VALVE; DNA MUTATIONAL ANALYSIS; EXONS; HEART FAILURE; HUMANS; INFANT; LOEYS-DIETZ SYNDROME; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; PROTEIN-SERINE-THREONINE KINASES; PULMONARY ARTERY; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; TIME FACTORS; TREATMENT OUTCOME;

EID: 75449094019     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33263     Document Type: Article

References (13)

1. Aalberts JJJ, van den Berg MP, Bergman JEH, du Marchie Sarvaas GJ, Post JG, van Unen H, Pals G, Boonstra PW, van Tintelen JP. 2008. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J 16:299-304.
2. Adès LC. 2008. Evolution of the face in Loeys-Dietz syndrome type II: Longitudinal observations from infancy in seven cases. Clin Dysmorphol 17:243-248.
3. Adès LC, Sullivan K, biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J, Bennetts B. 2006. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am J Med Genet Part A 140A:1047-1058.
4. Daubeney PE, Blackstone EH, Weintraub RG, Slavik Z, Scanlon J, Webber SA. 1999. Relationship of the dimension of cardiac structures to body size: An echocardiographic study in normal infants and children. Cardiol Young 9:402-410.
5. Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T. 2006. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet Part A 140A:104-108.
6. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, DePaepe AM, Dietz HC. 2005. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37: 275-281.
7. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. 2006. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355:788-798.
8. Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T. 2001. Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. Hum Mutat 17:71-72.
9. Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, JunienC, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. 2004. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36: 855-860.
10. Redmond JM, Lodge AJ. 2006. Atrial septal defects and ventricular septal defects. In: Nichols DG, Ungerleider RM, Spevak PJ, Greeley WJ, Cameron DE, Lappe DG, Wetzel RC, editors. Critical heart disease in infants and children. 2nd edition. Philadelphia: Mosby Elsevier. pp. 579-592
11. Viassolo V, Lituania M, Marasini M, Dietz H, Benelli F, Forzano F, Faravelli F. 2006. Fetal aortic root dilation: A prenatal feature of the Loeys-Dietz syndrome. Prenat Diagn 26:1081-1083.
12. Watanabe Y, Sakai H, Nishimura A, Miyake N, Saitsu H, Mizuguchi T, Matsumoto N. 2008. Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. Am J Med Genet Part A 146A:3070-3074.
13. Yetman AT, Beroukhim RS Beroukhim, Ivy DD, Manchester D. 2007. Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. Pediatrics 119:e1199-e1202.