A family with a new elastin gene mutation: Broad clinical spectrum, including sudden cardiac death

Cardiology in the Young

Volumn 21, Issue 1, 2011, Pages 62-65

  Jakob, André ^a   Unger, Sheila ^a   Arnold, Raoul ^a   Grohmann, Jochen ^a   Kraus, Cornelia ^b   Schlensak, Christian ^a   Stiller, Brigitte ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

coronary stenoses; general anaesthesia; Supravalvular aortic stenosis

Indexed keywords

ARGININE; GLUTAMINE;

AMINO ACID SUBSTITUTION; AORTA COARCTATION; AORTA SUPRAVALVULAR STENOSIS; AORTA VALVE STENOSIS; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL BLOOD VESSEL MALFORMATION; CONGENITAL HEART MALFORMATION; CORONARY ARTERY OBSTRUCTION; DIFFUSE ARTERIAL HYPOPLASIA; DYSPLASTIC ATRIOVENTRICULAR VALVE; ELASTIN GENE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENERAL ANESTHESIA; GENETIC SCREENING; HEART CATHETERIZATION; HEART LEFT VENTRICLE FAILURE; HEART MUSCLE ISCHEMIA; HUMAN; INFANT; LEFT CORONARY ARTERY; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PULMONARY VALVE STENOSIS; SCHOOL CHILD; SEQUENCE ANALYSIS; ST SEGMENT DEPRESSION; SUDDEN DEATH; SYSTOLIC HEART MURMUR;

CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; DISEASE PROGRESSION; DNA; ELASTIN; EXONS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 79952902677     PISSN: 10479511     EISSN: 14671107     Source Type: Journal    
DOI: 10.1017/S1047951110001563     Document Type: Article

References (36)

1. Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 1993; 73: 159-168. (Pubitemid 23115457)
2. Ewart AK, Morris CA, Ensing GJ, et al. A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. Proc Natl Acad Sci U S A 1993; 90: 3226-3230. (Pubitemid 23111338)
3. Rodriguez-Revenga L, Badenas C, Carrio A, Mila M. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol 2005; 26: 827-831. (Pubitemid 43130180)
4. Morris CA. Genetic aspects of supravalvular aortic stenosis. Curr Opin Cardiol 1998; 13: 214-219. (Pubitemid 28254461)
5. Metcalfe K, Rucka AK, Smoot L, et al. Elastin: Mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 2000; 8: 955-963. (Pubitemid 32094347)
6. Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 1994; 93: 1071-1077. (Pubitemid 24087159)
7. Wu YQ, Sutton VR, Nickerson E, et al. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet 1998; 78: 82-89. (Pubitemid 28249127)
8. Boeckel T, Dierks A, Vergopoulos A, et al. A new mutation in the elastin gene causing supravalvular aortic stenosis. Am J Cardiol 1999; 83: 1141-1143; A9-A10. (Pubitemid 29162809)
9. Dedic J, Weiss AS, Katahira J, Yu B, Trent RJ, Urban Z. A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: A mutation cluster within exon 20. Hum Mutat 2001; 17: 81.
10. Li DY, Toland AE, Boak BB, et al. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet 1997; 6: 1021-1028. (Pubitemid 27308385)
11. Tassabehji M, Metcalfe K, Donnai D, et al. Elastin: Genomic structure and point mutations in patients with supravalvular aortic stenosis. Hum Mol Genet 1997; 6: 1029-1036. (Pubitemid 27308386)
12. Urban Z, Michels VV, Thibodeau SN, Donis-Keller H, Csiszar K, Boyd CD. Supravalvular aortic stenosis: A splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum Genet 1999; 104: 135-142. (Pubitemid 29123605)
13. von Dadelszen P, Chitayat D, Winsor EJ, et al. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. Am J Med Genet 2000; 90: 270-275. (Pubitemid 30084250)
14. Olson TM, Michels VV, Urban Z, et al. A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet 1995; 4: 1677-1679.
15. Tassabehji M, Metcalfe K, Fergusson WD, et al. LIM-kinase deleted in Williams syndrome. Nat Genet 1996; 13: 272-273.
16. Frangiskakis JM, Ewart AK, Morris CA, et al. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 1996; 86: 59-69. (Pubitemid 26256578)
17. Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: Report of ten cases. J Pediatr 1996; 129: 926-931. (Pubitemid 27500376)
18. Conway EE Jr, Noonan J, Marion RW, Steeg CN. Myocardial infarction leading to sudden death in the Williams syndrome: Report of three cases. J Pediatr 1990; 117: 593-595. (Pubitemid 20332103)
19. Wessel A, Gravenhorst V, Buchhorn R, Gosch A, Partsch CJ, Pankau R. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A 2004; 127A: 234-237. (Pubitemid 38685862)
20. Pham PP, Moller JH, Hills C, Larson V, Pyles L. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. Pediatr Cardiol 2009; 30: 9-14.
21. Hirano E, Knutsen RH, Sugitani H, Ciliberto CH, Mecham RP. Functional rescue of elastin insufficiency in mice by the human elastin gene: Implications for mouse models of human disease. Circ Res 2007; 101: 523-531. (Pubitemid 47347882)
22. van Son JA, Edwards WD, Danielson GK. Pathology of coronary arteries, myocardium, and great arteries in supravalvular aortic stenosis. Report of five cases with implications for surgical treatment. J Thorac Cardiovasc Surg 1994; 108: 21-28. (Pubitemid 24224252)
23. Stamm C, Li J, Ho SY, Redington AN, Anderson RH. The aortic root in supravalvular aortic stenosis: The potential surgical relevance of morphologic findings. J Thorac Cardiovasc Surg 1997; 114: 16-24. (Pubitemid 27315293)
24. Vaideeswar P, Shankar V, Deshpande JR, Sivaraman A, Jain N. Pathology of the diffuse variant of supravalvar aortic stenosis. Cardiovasc Pathol 2001; 10: 33-37. (Pubitemid 32409988)
25. Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 2002; 39: 554-558. (Pubitemid 34864557)
26. Stamm C, Friehs I, Ho SY, Moran AM, Jonas RA, del Nido PJ. Congenital supravalvar aortic stenosis: A simple lesion? Eur J Cardiothorac Surg 2001; 19: 195-202. (Pubitemid 32141038)
27. Matsuda H, Miyamoto Y, Takahashi T, Kadoba K, Nakano S, Sano T. Extended aortic and left main coronary angioplasty with a single pericardial patch in a patient with Williams syndrome. Ann Thorac Surg 1991; 52: 1331-1333.
28. Terhune PE, Buchino JJ, Rees AH. Myocardial infarction associated with supravalvular aortic stenosis. J Pediatr 1985; 106: 251-254.
29. van Pelt NC,Wilson NJ, Lear G. Severe coronary artery disease in the absence of supravalvular stenosis in a patient with Williams syndrome. Pediatr Cardiol 2005; 26: 665-667. (Pubitemid 43015808)
30. Bonnet D, Cormier V, Villain E, Bonhoeffer P, Kachaner J. Progressive left main coronary artery obstruction leading to myocardial infarction in a child with Williams syndrome. Eur J Pediatr 1997; 156: 751-753. (Pubitemid 27438792)
31. Geggel RL, Gauvreau K, Lock JE. Balloon dilation angioplasty of peripheral pulmonary stenosis associated with Williams syndrome. Circulation 2001; 103: 2165-2170. (Pubitemid 32463295)
32. Izzo JL Jr. Arterial stiffness and the systolic hypertension syndrome. Curr Opin Cardiol 2004; 19: 341-352. (Pubitemid 38916492)
33. Horowitz PE, Akhtar S, Wulff JA, Al Fadley F, Al Halees Z. Coronary artery disease and anesthesia-related death in children with Williams syndrome. J Cardiothorac Vasc Anesth 2002; 16: 739-741. (Pubitemid 36076464)
34. Bragg K, Fedel GM, DiProsperis A. Cardiac arrest under anesthesia in a pediatric patient with Williams syndrome: A case report. AANA J 2005; 73: 287-293. (Pubitemid 41113642)
35. Monfared A, Messner A. Death following tonsillectomy in a child with Williams syndrome. Int J Pediatr Otorhinolaryngol 2006; 70: 1133-1135.
36. Park JH, Kim HS, Jin GY, Joo CU, Ko JK. Demonstration of peripheral pulmonary stenosis and supravalvular aortic stenosis by different cardiac imaging modalities in a patient with Williams syndrome usefulness of noninvasive imaging studies. Int J Cardiol 2008; 128: E95-e97.