Single-gene mutations and increased left ventricular wall thickness in the community: The Framingham Heart Study

Circulation

Volumn 113, Issue 23, 2006, Pages 2697-2705

  Morita, Hiroyuki ^a   Larson, Martin G ^d,e   Barr, Scott C ^a   Vasan, Ramachandran S ^d,e   O'Donnell, Christopher J ^b,e   Hirschhorn, Joel N ^c,f   Levy, Daniel ^d,e   Corey, Diane ^e   Seidman, Christine E ^a   Seidman, J G ^a   Benjamin, Emelia J ^d,e  

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e FRAMINGHAM HEART STUDY   (United States)

^f MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

Author keywords

Epidemiology; Genetics; Hypertrophy; Myosin

Indexed keywords

ALPHA GALACTOSIDASE; PROTEIN;

ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; COHORT ANALYSIS; COMMUNITY; CONTROLLED STUDY; DNA DETERMINATION; ECHOCARDIOGRAPHY; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GLA GENE; HEART VENTRICLE HYPERTROPHY; HUMAN; LAMP2 GENE; LIPID STORAGE; MALE; MYBPC3 GENE; MYH7 GENE; MYL3 GENE; PRIORITY JOURNAL; PRKAG2 GENE; RARE DISEASE; SARCOMERE; TNNI3 GENE; TNNT2 GENE;

ALPHA-GALACTOSIDASE; ANTHROPOMETRY; CARDIOMYOPATHY, HYPERTROPHIC; COHORT STUDIES; DNA; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HEART VENTRICLES; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; LIPID METABOLISM, INBORN ERRORS; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLE PROTEINS; MUTATION; PREVALENCE; SARCOMERES; UNITED STATES;

EID: 33745444609     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.105.593558     Document Type: Article

References (25)

1. Vakili BA, Okin PM, Devereux RB. Prognostic implications of left ventricular hypertrophy. Am Heart J. 2001;141:334-341.
2. Gosse P. Left ventricular hypertrophy as a predictor of cardiovascular risk. J Hypertens Suppl. 2005;23:S27-S33.
3. Bella JN, MacCluer JW, Roman MJ, Almasy L, North KE, Best LG, Lee ET, Fabsitz RR, Howard BV, Devereux RB. Heritability of left ventricular dimensions and mass in American Indians: the Strong Heart Study. J Hypertens. 2004;22:281-286.
4. Devereux RB, Roman MJ, de Simone G, O'Grady MJ, Paranicas M, Yeh JL, Fabsitz RR, Howard BV. Relations of left ventricular mass to demographic and hemodynamic variables in American Indians: the Strong Heart Study. Circulation. 1997;96:1416-1423.
5. Amett DK, de las Fuentes L, Broeckel U. Genes for left ventricular hypertrophy. Curr Hypertens Rep. 2004;6:36-41.
6. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104:557-567.
7. Ahmad F, Seidman JG, Seidman CE. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet. 2005;6:185-216.
8. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA. 2002;287:1308-1320.
9. Benjamin EJ, Hirschhorn J, Izumo S, Seidman JG. CardioGenomics Project Website. The Program in Genomics Applications, Cardiogenomics Project. 2005. http://cardiogenomics.med.harvard.edu. Accessed May 22, 2006.
10. Arad M, Maron BJ, Gorham JM, Johnson WH, Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005;352:362-372.
11. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CARDIA Study: Coronary Artery Risk Development in (Young) Adults. Circulation. 1995;92:785-789.
12. Celera Discovery System. 2005. http://www.celeradiscoverysystem.com/.
13. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44:1903-1910.
14. Ingman M. mtDB-Human Mitochondrial Genome Database. 2005. http://www.genpat.uu.se/mtDB/mainframe.html. Accessed May 22, 2006.
15. Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc. 2005;80:463-469.
16. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107:2227-2232.
17. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105:446-451.
18. Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet. 1993;53:1186-1197.
19. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, Elliott PM. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105:1407-1411.
20. Knol IE, Ausems MG, Lindhout D, van Diggelen OP, Verwey H, Davies J, Ploos van Amstel JK, Poll-The BT. Different phenotypic expression in relatives with Fabry disease caused by a W226X mutation. Am J Med Genet. 1999;82:436-439.
21. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288-293.
22. Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation. 2003;108:1299-1301.
23. Spirito P, Chiarella F, Carratino L, Berisso MZ, Bellotti P, Vecchio C. Clinical course and prognosis of hypertrophic cardiomyopathy in an outpatient population. N Engl J Med. 1989;320:749-755.
24. Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998;338:1248-1257.
25. Marian AJ. Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol. 2002;17:242-252.