Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: Valve-sparing aortic root replacement

Congenital Heart Disease

Volumn 2, Issue 6, 2007, Pages 424-428

  Dyamenahalli, Umesh ^a,c   Abraham, Boban ^a   Fontenot, Eudice ^a   Prasad, Vinay ^a   Imamura, Michiaki ^b  

^a ARKANSAS CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^c NONE   (United States)

Author keywords

Aneurysmal Dilation of Ascending Aorta; Dilationof Main Pulmonary Artery; Kabuki Syndrome; Mucinous Degeneration; Valve sparing Ascending Aortoplasty

Indexed keywords

ADOLESCENT; AORTA ANEURYSM; AORTA ROOT; AORTA SURGERY; AORTOPLASTY; ARTICLE; ASCENDING AORTA; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; ELASTIC FIBER; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; INFANT; KABUKI MAKEUP SYNDROME; KARYOTYPE; MALE; PRIORITY JOURNAL; PULMONARY ARTERY ANEURYSM; SURGICAL TECHNIQUE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANEURYSM; AORTA; DEVELOPMENTAL DISABILITIES; DILATATION, PATHOLOGIC; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUSCLE, SMOOTH, VASCULAR; MUSCULOSKELETAL ABNORMALITIES; PULMONARY ARTERY; SYNDROME;

EID: 36349020337     PISSN: 1747079X     EISSN: 17470803     Source Type: Journal    
DOI: 10.1111/j.1747-0803.2007.00136.x     Document Type: Article

References (14)

1. Niikawa N, Kuroki Y, Kajii T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet. 1988;31:565-589.
2. Armstrong L, El Moneim AA, Aleck K, et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet. 2005;132A:265-272.
3. Schrander-Stumpel CTRM, Spruyt L, Curfs LMG, Defloor T, Schrander JJP. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet. 2005;132A:234-243.
4. Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Kabuki syndrome: A review study of three hundred patients. Clin Dysmorphol. 2002;11:95-102.
5. Digilo MC, Marino B, Toscano A, Giannotti A, Dallapiccola B, et al. Congenital heart defects in Kabuki syndrome. Am J Med Genet. 2001;100:269-274.
6. McMahon CJ, Reardon W. The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome. Cardiol Young. 2006;16:30-33.
7. Shah M, Bogucki B, Mavers M. deMello DE, Knutsen A. Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report. BMC Med Genet. 2005;6: 28.
8. Sheil MLK, Jenkins O, Sholler GF. Echocardiographic assessment of aortic root dimensions in normal children based on measurement of a new ratio of aortic size independent of growth. Am J Cardiol. 1995;75:711-715.
9. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37:275-281.
10. De Paulis R, De Matteis GM, Nardi P, et al. One- year appraisal of a new aortic root conduit with sinuses of valsalva. J Thorac Cardiovasc Surg. 2002;123:33-39.
11. Adam MP, Hudgins L. Kabuki syndrome: A review. Clin Genet. 2004;67:209-219.
12. Kawame H, Hannibal MC, Hudgins L, Pagon R. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr. 1999;134:480-485.
13. Dyamenahalli U, Smallhorn JF, Geva T, et al. Isolated ductus arteriosus aneurysm in the fetus and infant: A multi-institutional experience. J Am Coll Cardiol. 2000;36:262-269.
14. Homme JL, Aubry MC, Edwards WD, et al. Surgical pathology of the ascending aorta: A clinicopathologic study 513 cases. Am J Surg Pathol. 2006;30:1159-1168.