Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2215-2220

  Blinder, Joshua J ^a   Martinez, Hugo R ^a   Craigen, William J ^b   Belmont, John ^b   Pignatelli, Ricardo H ^a   Jefferies, John L ^a,c  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c ST LUKE S EPISCOPAL HOSPITAL   (United States)

Author keywords

Cardiomyopathy; Chromosome 8p23.1; Congenital heart disease; Left ventricular noncompaction; Transcription factor GATA4

Indexed keywords

CALCIUM CHANNEL BLOCKING AGENT; HUMAN GROWTH HORMONE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ACUTE LYMPHOCYTIC LEUKEMIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 8P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DOPPLER ECHOCARDIOGRAPHY; ESSENTIAL HYPERTENSION; FACE DYSMORPHIA; GATA4 GENE; GENE FUNCTION; GENETIC ASSOCIATION; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE FUNCTION; HUMAN; HYPERTELORISM; LEARNING DISORDER; LONG PHILTRUM; MALE; MEDICAL HISTORY; MICROARRAY ANALYSIS; MUTATOR GENE; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SCHOOL CHILD; SHORT STATURE; VENTRICULAR NONCOMPACTION;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; FACIES; GATA4 TRANSCRIPTION FACTOR; HEART; HEART SEPTAL DEFECTS, ATRIAL; HEART SEPTAL DEFECTS, VENTRICULAR; HEART VENTRICLES; HUMANS; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PULMONARY VALVE STENOSIS; ZINC FINGERS;

EID: 81155159642     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34129     Document Type: Article

References (29)

1. Chang BL, Liu W, Sun J, Dimitrov L, Li T, Turner AR, Zheng SL, Isaacs WB, Xu J. 2007. Integration of somatic deletion analysis of prostate cancers and germline linkage analysis of prostate cancer families reveals two small consensus regions for prostate cancer genes at 8p. Cancer Res 67: 4098-4103.
2. Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D. 2003. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424: 443-447.
3. Hellebrekers DM, Lentjes MH, van den Bosch SM, Melotte V, Wouters KA, Daenen KL, Smits KM, Akiyama Y, Yuasa Y, Sanduleanu S, Khalid-de Bakker CA, Jonkers D, Weijenberg MP, Louwagie J, van Criekinge W, Carvalho B, Meijer GA, Baylin SB, Herman JG, de Bruïne AP, van Engeland M. 2009. GATA4 and GATA5 are potential tumor suppressors and biomarkers in colorectal cancer. Clin Cancer Res 15: 3990-3997.
4. Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, Peteiro J, Rodriguez E, Bouzas B, Alvarez N, Muniz J, Crespo-Leiro M. 2004. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol 94: 50-54.
5. Hutchinson R, Wilson M, Voullaire L. 1992. Distal 8p deletion (8p23.1→8pter): A common deletion? J Med Genet 29: 407-411.
6. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. 2001. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: A step towards classification as a distinct cardiomyopathy. Heart 86: 666-671.
7. Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hurlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L. 2008. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117: 2893-2901.
8. Kobayashi S, Lackey T, Huang Y, Bisping E, Pu WT, Boxer LM, Liang Q. 2006. Transcription factor gata4 regulates cardiac BCL2 gene expression in vitro and in vivo. FASEB J 20: 800-802.
9. Lipshultz SE, Sleeper LA, Towbin JA, Lowe AM, Orav EJ, Cox GF, Lurie PR, McCoy KL, McDonald MA, Messere JE, Colan SD. 2003. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 348: 1647-1655.
10. Lorsheyd A, Cramer MJ, Velthuis BK, Vonken EJ, van der Smagt J, van Tintelen P, Hauer RN. 2006. Familial occurrence of isolated non-compaction cardiomyopathy. Eur J Heart Fail 8: 826-831.
11. Lu T, Hano H, Meng C, Nagatsuma K, Chiba S, Ikegami M. 2007. Frequent loss of heterozygosity in two distinct regions, 8p23.1 and 8p22, in hepatocellular carcinoma. World J Gastroenterol 13: 1090-1097.
12. Maitra M, Schluterman MK, Nichols HA, Richardson JA, Lo CW, Srivastava D, Garg V. 2009. Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development. Dev Biol 326: 368-377.
13. Molkentin JD. 2000. The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression. J Biol Chem 275: 38949-38952.
14. Molkentin JD, Lin Q, Duncan SA, Olson EN. 1997. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 11: 1061-1072.
15. Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG. 2003. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 348: 1639-1646.
16. Oka T, Maillet M, Watt AJ, Schwartz RJ, Aronow BJ, Duncan SA, Molkentin JD. 2006. Cardiac-specific deletion of Gata4 reveals its requirement for hypertrophy, compensation, and myocyte viability. Circ Res 98: 837-845.
17. Pantazis AA, Elliott PM. 2009. Left ventricular noncompaction. Curr Opin Cardiol 24: 209-213.
18. Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. 1999. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet 83: 201-206.
19. Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JA. 2003. Clinical characterization of left ventricular noncompaction in children: A relatively common form of cardiomyopathy. Circulation 108: 2672-2678.
20. Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT. 2007. Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol 43: 677-685.
21. Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O'Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P. 1996. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 93: 841-842.
22. Ritter M, Oechslin E, Sutsch G, Attenhofer C, Schneider J, Jenni R. 1997. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc 72: 26-31.
23. Saito K, Ibuki K, Yoshimura N, Hirono K, Watanabe S, Watanabe K, Uese K, Yasukouchi S, Ichida F, Miyawaki T. 2009. Successful cardiac resynchronization therapy in a 3-year-old girl with isolated left ventricular non-compaction and narrow QRS complex: A case report. Circ J 73: 2173-2177.
24. Sasse-Klaassen S, Probst S, Gerull B, Oechslin E, Nurnberg P, Heuser A, Jenni R, Hennies HC, Thierfelder L. 2004. Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation 109: 2720-2723.
25. Toyono M, Kondo C, Nakajima Y, Nakazawa M, Momma K, Kusakabe K. 2001. Effects of carvedilol on left ventricular function, mass, and scintigraphic findings in isolated left ventricular non-compaction. Heart 86: E4.
26. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. 2003. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 42: 2014-2027.
27. Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. 2009. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet Part A 149A: 1661-1677.
28. Xin M, Davis CA, Molkentin JD, Lien CL, Duncan SA, Richardson JA, Olson EN. 2006. A threshold of GATA4 and GATA6 expression is required for cardiovascular development. Proc Natl Acad Sci USA 103: 11189-11194.
29. Zhao Y, McLaughlin D, Robinson E, Harvey AP, Hookham MB, Shah AM, McDermott BJ, Grieve DJ. 2010. Nox2 NADPH oxidase promotes pathologic cardiac remodeling associated with Doxorubicin chemotherapy. Cancer Res 70: 9287-9297.