ABSTRACT
Resumo A cardiomiopatia hipertrófica (CMH) é a doença cardíaca de origem genética mais comum, cuja principal característica consiste na hipertrofia ventricular esquerda que acontece na ausência de outras patologias que desencadeiam tal alteração. A CMH pode se apresentar desde formas assintomáticas até manifestações de morte cardíaca súbita e de insuficiência cardíaca refratária. Métodos de imagem contemporâneos de alta resolução e escores clínicos mais acurados vêm sendo utilizados e desenvolvidos no sentido de propiciar uma avaliação prognóstica e funcional mais adequada, bem como possibilitar a estratificação dos casos de maior gravidade. Nesta revisão, serão abordados esses aspectos, entre outros tópicos clássicos inerentes ao estudo dessa doença.
Abstract Hypertrophic cardiomyopathy (HCM) is the most common heart disease with a genetic origin, and its main characteristic is left ventricular hypertrophy that occurs in the absence of other conditions that trigger this change. HCM may present from asymptomatic forms to manifestations of sudden cardiac death and severe heart failure. Contemporary high-resolution imaging methods and more accurate clinical scores have been used and developed to provide a prognostic assessment and adequate functional assessments, as well as to allow for the stratification of clinical severity. These aspects will be addressed in this review, along with other classic topics inherent to the study of this disease.
Subject(s)
Humans , Cardiomyopathy, Hypertrophic/diagnostic imaging , Heart Failure , Prognosis , Death, Sudden, Cardiac/etiology , Hypertrophy, Left VentricularABSTRACT
Objective: To explore the relationship between 1eptin receptor gene Gln223Arg polymorphism and metabolism syndrome (MS) with its impact on cardiac structure and function. Methods: Our research included 2 groups:MS group, n=167 patients with ifrst diagnosed MS without treatment in our hospital from 2005-10 to 2008-6 and Control group, n=216 healthy subjects from regular physical examination. Blood pressure, biochemical features, insulin levels and echocardiography were detected;leptin receptor Gln223Arg genotypes were measured by PCR-RFLP;the above indexes were compared between 2 groups. Results:The patients in MS group had the higher frequency of A allele than Control group. The MS occurrence rate in allele A carrier was 3.302 times higher than allele G carrier (P=0.000;95%CI 2.432-4.483). The patients in MS group already had left ventricular hypertrophy and impaired diastolic function. Compared with MS G allele carriers, the A allele carriers had the higher BMI, blood pressure, glucose, fasting glucose and insulin levels, longer waist circumference, more serious dyslipidemia and insulin resistance, left ventricular hypertrophy and impaired diastolic function. Conclusion: Leptin receptor gene Gln223Arg polymorphism is associated with the increased risk of MS occurrence and left ventricular hypertrophy.
ABSTRACT
Objective To investigate the association between CYP11 B2 gene polymo-rphism and left ventricle hypertrophy with meta analysis.Methods Literatures about the association of CYP11 B2 gene polymorphism and left ventricle hypertrophy from January 1992 to December 2011 were searched.The electronic databases retrieved from Pubmed,Embase,China national knowledge intemet,Chinese biological medicine disk,VIP fulltext database and Wanfang fulltext database.Odds ratio of CYP11 B2 genotype distributions in left ventricle hypertrophy patients comparing with healthy control were analyzed.RevMan5.1 software was applied for investigating hereogeneity among individual studies and summarizing effects with proper statistical methods.Six case control studies were enrolled.Results A total of 541 cases and 553 controls were enrolled for the study.The pooled OR of CC vs TT + TC genotype was 1.15 (95％ CI:0.74 ～ 1.80) (Z =0.63,P =0.53) in the subgroup of hypertension,and the pooled OR of CC vs TT + TC genotype was 1.15 (95 ％ CI:0.74 ～ 1.80) (Z =0.63,P =0.53) in the subgroup of race.The pooled OR of C vs T allele was 1.15 (95％ CI:0.76 ～ 1.74) vs 0.87 (95％ CI:0.58 ～ 1.31) (Z =0.67,P =O.50).Conclusion Whether the hypertension or the race,the genotype of CYP11 B2 polymorphism has no association with an increased risk of left ventricle hypertrophy.