Influence of Angiotensin-Converting-Enzyme Gene Polymorphism on Echocardiographic Data of Patients with Ischemic Heart Failure
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Published on: September 17, 2015
Gustavo Salgado Duque1, Dayse Aparecida da Silva2, Felipe Neves de Albuquerque1
1Hospital Universitário Pedro Ernesto - Universidade Estadual do Rio de Janeiro (UERJ); RJ - Brazil.
Insights
The angiotensin-converting-enzyme (ACE) I/D polymorphism influences outcomes in patients with ischemic heart failure. DD genotype carriers showed worse echocardiographic results, while II genotype carriers had better outcomes, highlighting genetic associations in cardiovascular disease.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Heart Failure Pathophysiology
Background:
- The association between angiotensin-converting-enzyme (ACE) gene polymorphisms and clinical/echocardiographic outcomes in heart failure (HF) and coronary artery disease is established.
- Investigating the genetic profile of local populations with these conditions is crucial for understanding disease associations.
Purpose of the Study:
- To determine the frequency of ACE gene polymorphisms in ischemic heart failure patients from Rio de Janeiro.
- To analyze the association between ACE gene polymorphisms and echocardiographic findings in this population.
Main Methods:
- Genetic analysis of the I/D ACE polymorphism was performed.
- Clinical, laboratory, and echocardiographic data were collected from 99 patients.
- Statistical analysis correlated ACE genotypes with echocardiographic parameters.
Main Results:
- Allele frequencies: 53 I, 145 D. Genotype frequencies: DD (49.5%), DI (47.48%), II (3.02%).
- Patients with DD genotype showed a higher worsening in left ventricular ejection fraction (LVEF), LV systolic diameter (LVSD), and LV diastolic diameter (LVDD) compared to DI and II genotypes.
- The II genotype was associated with the best echocardiographic outcomes, particularly in ΔLVDD.
Conclusions:
- The DD genotype in ACE gene polymorphisms is linked to worse echocardiographic progression in ischemic heart failure patients.
- The II genotype appears to be associated with a more favorable echocardiographic outcome.
- These findings underscore the importance of genetic profiling in managing heart failure patients.
Background::
Association between angiotensin-converting-enzyme (ACE) gene polymorphisms and different clinical and echocardiographic outcomes has been described in patients with heart failure (HF) and coronary artery disease. Studying the genetic profile of the local population with both diseases is necessary to assess the occurrence of that association.
Objectives::
To assess the frequency of ACE gene polymorphisms in patients with ischemic HF in a Rio de Janeiro population, as well as its association with echocardiographic findings.
Methods::
Genetic assessment of I/D ACE polymorphism in association with clinical, laboratory and echocardiographic analysis of 99 patients.
Results::
The allele frequency was: 53 I alleles, and 145 D alleles. Genotype frequencies were: 49.5% DD; 47.48% DI; 3.02% II. Drug treatment was optimized: 98% on beta-blockers, and 84.8% on ACE inhibitors or angiotensin-receptor blocker. Echocardiographic findings: difference between left ventricular diastolic diameters (ΔLVDD) during follow-up: 2.98±8.94 (DD) vs. 0.68±8.12 (DI) vs. -11.0±7.00 (II), p=0.018; worsening during follow-up of the LV systolic diameter (LVSD): 65.3% DD vs. 19.0% DI vs. 0.0% II, p=0.01; of the LV diastolic diameter (LVDD): 65.3% DD vs. 46.8% DI vs. 0.0% II, p=0.03; and of the LV ejection fraction (LVEF): 67.3% DD vs. 40.4% DI vs. 33.3% II, p=0.024. Correlated with D allele: ΔLVEF, ΔLVSD, ΔLVDD.
Conclusions::
More DD genotype patients had worsening of the LVEF, LVSD and LVDD, followed by DI genotype patients, while II genotype patients had the best outcome. The same pattern was observed for ΔLVDD.
Fundamentos::
Associação entre polimorfismos genéticos da enzima conversora da angiotensina (ECA) e diferentes evoluções clínicas e ecocardiográficas foi descrita em pacientes com insuficiência cardíaca (IC) e coronariopatia. O estudo do perfil genético da população local com as duas doenças torna-se necessário para verificar a ocorrência dessa associação.
Objetivos::
Avaliar a frequência dos polimorfismos genéticos da ECA em pacientes com IC de etiologia isquêmica de uma população do Rio de Janeiro e sua associação com achados ecocardiográficos.
MéTodos::
Avaliação genética do polimorfismo I/D da ECA associada a análise de dados clínicos, laboratoriais e ecocardiográficos de 99 pacientes.
Resultados::
Foram encontrados 53 alelos I, 145 alelos D, quanto aos genótipos da ECA: 49,5% DD, 47,48% DI, 3,02% II. O tratamento medicamentoso foi otimizado com 98% usando betabloqueadores e 84,8%, IECA ou bloqueador do receptor de angiotensina. Achados ecocardiográficos: diferença entre os diâmetros diastólicos do ventrículo esquerdo (ΔVED): 2,98±8,94 (DD) vs. 0,68±8,12 (DI) vs. -11,0±7,00 (II), p=0,018; piora evolutiva do diâmetro sistólico do VE (VES): 65,3 % DD vs. 19,0 % DI vs. 0,0 % II, p=0,01; do diâmetro diastólico do VE (VED): 65,3 % DD vs. 46,8 % DI vs. 0,0 % II, p=0,03; e da fração de ejeção do VE (FEVE): 67,3 % DD vs. 40,4 % DI vs. 33,3 % II, p=0,024. Correlação com alelo D: ΔFEVE, ΔVES, ΔVED.
ConclusõEs::
Foram identificados mais pacientes com piora evolutiva da FEVE e dos diâmetros cavitários do VE no genótipo DD, seguido do DI, sendo o II o de melhor evolução. O mesmo padrão foi observado na ΔVED.
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