Direct detection of malignant mutations in patients with hypertrophic cardiomyopathy;Detección directa de mutaciones malignas en pacientes con miocardiopatía hipertrófica

Revista Espanola de Cardiologia

Volumn 56, Issue 10, 2003, Pages 1022-1025

  García Castro, Mónica ^a   Reguero, Julián R ^a   Batalla, Alberto ^b   Catalán, Felicitas ^c   Mayordomo, Juan ^a   Coto García, Eliecer ^a  

^a HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^b HOSPITAL DE CABUEÑES   (Spain)

^c HOSPITAL SAN AGUSTÍN   (Spain)

Author keywords

Beta myosin; Hypertrophic cardiomyopathy; Mutations; Sudden cardiac death; Troponin T

Indexed keywords

CYSTEINE; MYOSIN HEAVY CHAIN; TROPONIN T;

ADULT; AGAR GEL ELECTROPHORESIS; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PREVALENCE; RESTRICTION MAPPING; SUDDEN DEATH; SYMPTOMATOLOGY;

EID: 0242522249     PISSN: 03008932     EISSN: None     Source Type: Journal    
DOI: 10.1157/13052393     Document Type: Article

References (12)

1. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE, et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Circulation 1995;92: 785-9.
2. Elliot PM, Poloniecki J, Dickie S, Sharma S, Monserrat L, Varnava A, et al. Sudden death in hypertrophic cardiomyopathy: Identification of high risk patients. J Am Coll Cardiol 2000;36:2212-8.
3. Olivotto I, Gistri R, Petrone P, Pedemonte F, Vargiu D, Cecchi F. Maximum left ventricular thickness and risk of' sudden death in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2003;41:315-21.
4. McKenna WJ, Monserrat Iglesias L. Identificación y tratamiento de los pacientes con miocardiopatía hipertrófica y riesgo de muerte súbita. Rev Esp Cardiol 2000;53:123-30.
5. Arad M, Seidman JG, Seidman CE. Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet 2002;11:2499-506.
6. Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995;332:1058-64.
7. Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992;326:1108-14.
8. Moolman JC, Corfield VA, Posen B, Ngumbela K, Seidman C, Brink PA, et al. Sudden death due to troponin T mutations. J Am Coll Cardiol 1997;29:549-55.
9. Charron P, Dubourg O, Desnos M, Isnard R, Hagege A, Bonne G, et al. Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-MHC genes. Eur Heart J 1998;19: 139-45.
10. Miller SA, Dykes DD, Polesky HF. A salting out method for DNA preparation. Nucleic Acids Res 1988;16:1215.
11. Roberts R. Genética molecular de las miocardiopatías. Rev Esp Cardiol 2002;55:292-302.
12. Ackerman MJ, Van Driest SL, Ommen SR, Will ML, Nishimura RA, Tajik AJ, et al. Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy. A comprehensive outpatient perspective. J Am Coll Cardiol 2002;39:2042-8.