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BACKGROUND: Right ventricular (RV) imaging has not a definite role in risk stratification of pulmonary arterial hypertension (PAH) patients. We tested the hypothesis that echocardiography-derived phenotypes, depicting different degrees of RV remodeling and dysfunction, may provide additional prognostic information to current risk stratification tools. METHODS: Consecutive incident PAH patients aged ≥18 years, diagnosed between January 2005 and December 2021, underwent clinical assessment, right heart catheterization, standard echocardiography. Simple echocardiographic variables were combined in order to define a priori four phenotypes representing different degrees of RV dilatation and RV-pulmonary arterial (PA) coupling: Phenotype 1 with mildy dilated right ventricle and preserved RV-PA coupling (n = 152 patients); phenotype 2 with mildly dilated right ventricle and poor RV-PA coupling (n = 143 patients); phenotype 3 with severely dilated right ventricle and preserved RV-PA coupling (n = 201 patients); phenotype 4 with severely dilated right ventricle and poor RV-PA coupling, with or without severe tricuspid regurgitation (n = 519 patients). Risk stratification was based on the European Society of Cardiology/European Respiratory Society (ESC/ERS) 3-strata model and Registry to Evaluate Early and Long-Term PAH disease Management (REVEAL) 2.0 score. RESULTS: These phenotypes were present in all risk groups. Notably, regardless of the ESC/ERS risk stratum assigned to the patient, phenotype 4 was associated with a 2-fold increase of the odds of death (HR 2.1, 95% CI 1.6-2.8, p < 0.001), while phenotype 1 was associated with a 71% reduction in the odds of dying (HR 0.29, 95% CI 0.18-0.47, p < 0.001). CONCLUSIONS: Echocardiography-derived phenotypes describing RV remodeling and dysfunction may provide prognostic information which is independent of and additional to the clinically defined risk in incident PAH patients.
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The discrimination between heart failure with preserved ejection fraction (HFpEF) and pulmonary arterial hypertension (PAH) requires a multiparametric approach, eventually culminating in right heart catheterization. Solving this differential diagnosis is crucial in order to properly tailor patient treatment, with relevant clinical implications. However, it is not uncommon to be confronted with patients at intermediate or high risk of having HFpEF whose pulmonary artery wedge pressure (PAWP) falls in a grey zone in between 13 and 15 mmHg. In these patients, a provocative test in the cath lab might be considered, with the aim of unmasking an occult form of HFpEF with non-overt hemodynamic manifestations, or to definitely exclude it.Saline load and physical exercise can be viewed as the most suitable provocative tests seeking to help for the differential diagnosis in this specific patient population. Although normative values for the hemodynamic response to these maneuvers have been proposed, supporting evidence is still preliminary or equivocal. In this paper, we will review the pathophysiological background for the application of provocative tests in the cath lab, as well as methodological and interpretative aspects to discriminate between HFpEF and PAH, highlighting strengths and weaknesses of fluid load and physical exercise.
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Insuficiencia Cardíaca , Hipertensión Pulmonar , Cateterismo Cardíaco , Insuficiencia Cardíaca/diagnóstico , Hemodinámica , Humanos , Hipertensión Pulmonar/diagnóstico , Volumen Sistólico/fisiologíaRESUMEN
We report the case of an 86-year-old man referred for abdominal pain and ECG signs of inferior myocardial infarction. Transthoracic, transoesophageal and contrast echocardiographs showed a septal intra-mural haematoma, dissecting the right ventricle wall and partially obliterating the right ventricle lumen. A patent communication with left ventricle with extensive wall thrombosis was present at Doppler examination within dissecting haematoma. Although the patient refused any surgical treatment, a 3-month follow-up was uneventful.
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Cardiomiopatías/etiología , Ventrículos Cardíacos/patología , Hematoma/etiología , Hemodinámica , Infarto del Miocardio/complicaciones , Anciano de 80 o más Años , Cardiomiopatías/diagnóstico por imagen , Medios de Contraste , Ecocardiografía , Ecocardiografía Transesofágica , Ventrículos Cardíacos/diagnóstico por imagen , Hematoma/diagnóstico por imagen , Humanos , Masculino , Infarto del Miocardio/diagnóstico por imagen , Infarto del Miocardio/patología , Rotura/diagnóstico por imagen , Rotura/etiología , Rotura/patologíaRESUMEN
The new coronavirus disease 2019 (COVID-19), which is causing hundreds of thousands of deaths worldwide, is complex and can present with a multi-organ localization. One of its worst complications is an interstitial pneumonia with acute respiratory failure also known as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which requires non-invasive or invasive ventilation. A severe coagulopathy with poor prognosis is found in 5-10% of cases. SARS-CoV-2 is manifesting as a multi-dimensional disease and, recently, unique co-existing pathophysiological and clinical aspects are being defined: (i) an increased immune and inflammatory response with the activation of a cytokine storm and consequent coagulopathy, which promote both venous thromboembolic events and in situ thrombosis localized in small arterioles and pulmonary alveolar capillaries; (ii) a high intrapulmonary shunt, which often accounts for the severity of respiratory failure, due to reduced hypoxic pulmonary vasoconstriction with pulmonary neo-angiogenetic phenomena. Furthermore, the high incidence of venous thromboembolism in COVID-19 patients admitted to the intensive care unit and the autoptic findings of in situ micro-thrombosis at the pulmonary vascular level, suggest that in this disease coagulopathy, unlike septic disseminated intravascular coagulation, is driven towards a hyper-thrombogenic state, giving rise to a debate (with ongoing studies) about the preventive use of anticoagulant doses of heparin to reduce mortality. The aim of this position paper from the Italian Association of Hospital Cardiologists (ANMCO) is to highlight the main implications that COVID-19 infection has on the pulmonary circulation from a pathophysiological, clinical and management point of view.
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Causas de Muerte , Infecciones por Coronavirus/epidemiología , Enfermedades Pulmonares Intersticiales/mortalidad , Pandemias/estadística & datos numéricos , Neumonía Viral/epidemiología , Síndrome Respiratorio Agudo Grave/epidemiología , Tromboembolia Venosa/etiología , COVID-19 , Cardiología , Enfermedades Transmisibles Emergentes/epidemiología , Infecciones por Coronavirus/diagnóstico , Progresión de la Enfermedad , Femenino , Humanos , Incidencia , Italia/epidemiología , Enfermedades Pulmonares Intersticiales/etiología , Enfermedades Pulmonares Intersticiales/fisiopatología , Masculino , Neumonía Viral/diagnóstico , Circulación Pulmonar/fisiología , Medición de Riesgo , Síndrome Respiratorio Agudo Grave/diagnóstico , Sociedades Médicas , Análisis de Supervivencia , Tromboembolia Venosa/mortalidad , Tromboembolia Venosa/fisiopatologíaRESUMEN
Pulmonary embolism represents the third leading cause of cardiovascular mortality in developed countries. It requires, in most cases, hospital treatment and always a structured follow-up program. Therefore, at the time of discharge, the communication and the transfer of information from the specialist to the general practitioner, through the discharge letter, represents a crucial opportunity. The aim is to improve the quality of the transmitted content, including information regarding initial assessment, procedures during hospitalization, residual risks, discharge treatments, therapeutic goals and follow-up plan in accordance with the latest guidelines. The discharge letter after hospitalization for pulmonary embolism must include personalized information, especially regarding the anticoagulant regimen in the specific onset setting. Finally, the follow-up program should be accurately described. A standardized discharge letter template, accompanied by some final notes addressed to the general practitioner and patient, could represent a useful tool to improve the quality and time of transmission of information between health professionals after pulmonary embolism.
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Comunicación , Alta del Paciente/normas , Embolia Pulmonar/terapia , Enfermedad Aguda , Continuidad de la Atención al Paciente/normas , Hospitalización , Humanos , Tiempo de InternaciónRESUMEN
OBJECTIVES: The aim of this study was to evaluate whether the clinical benefit of cardiac resynchronization therapy (CRT) can be prospectively predicted by means of the baseline evaluation of left ventricular asynchrony. BACKGROUND: The reverse remodeling associated with CRT is more evident in patients with severe heart failure (HF) and left bundle branch block (LBBB) who have left ventricular asynchrony. METHODS: Baseline left ventricular asynchrony was assessed in 60 patients with severe HF and LBBB by calculating the electrocardiographic duration of QRS and the echocardiographic septal-to-posterior wall motion delay (SPWMD). Left ventricular size and left ventricular ejection fraction (LVEF), mitral valve regurgitation, and functional capacity were also evaluated. The progression toward HF (defined as a worsening clinical condition leading to a sustained increase in conventional therapies, hospitalization, cardiac transplantation, and death) was assessed during follow-up, as were the changes in LVEF after six months. RESULTS: During the median follow-up of 14 months, 16 patients experienced HF progression. Univariate analysis showed that ischemic cardiomyopathy, changes in the QRS duration after implantation, and SPWMD significantly correlated with events. At multivariate analysis, a long SPWMD remained significantly associated with a reduced risk of HF progression (hazard ratio: 0.91; 95% confidence interval: 0.83 to 0.99; p <0.05). An improvement in LVEF was observed in 79% of the patients with a baseline SPWMD of > or =130 ms and in 9% of those with an SPWMD of <130 ms (p <0.0001). CONCLUSIONS: Baseline SPWMD is a strong predictor of long-term clinical improvement after CRT in patients with severe HF and LBBB.
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Bloqueo de Rama/fisiopatología , Bloqueo de Rama/terapia , Estimulación Cardíaca Artificial , Insuficiencia Cardíaca/fisiopatología , Insuficiencia Cardíaca/terapia , Remodelación Ventricular/fisiología , Anciano , Bloqueo de Rama/diagnóstico por imagen , Cardiomiopatía Dilatada/diagnóstico por imagen , Cardiomiopatía Dilatada/fisiopatología , Cardiomiopatía Dilatada/terapia , Progresión de la Enfermedad , Ecocardiografía Doppler , Femenino , Insuficiencia Cardíaca/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Marcapaso Artificial , Estudios Prospectivos , Resultado del Tratamiento , Disfunción Ventricular Izquierda/diagnóstico por imagenRESUMEN
OBJECTIVE: To evaluate the role of brain natriuretic peptide (BNP) in predicting the progression of heart failure (HF) after cardiac resynchronization therapy (CRT). BACKGROUND: It has been shown that BNP predicts the prognosis and can guide the treatment of HF. METHODS: We studied 50 consecutive patients (61+/-10 years, 23 male) with HF (8 with ischaemic cardiomyopathy), NYHA class III, left bundle branch block, left ventricular ejection fraction (LVEF) =35% (mean 24+/-6%) who underwent CRT. All patients were taking conventional HF therapy and were clinically stable. Plasma BNP levels were evaluated by two-site dual-monoclonal immunochemiluminescent assay before, and 1 month after CRT. The predictive value of BNP was assessed using univariate and multivariate regression analyses. RESULTS: During follow-up (mean 19+/-12 months), HF progression was observed in 14 patients (11 were hospitalised and 3 died after worsening of HF). Multivariate analysis showed that BNP levels before (HR: 2.07; CI: 1.19-3.62; p=0.01) and 1 month after CRT (HR: 2.23; CI: 1.26-3.94; p=0.006) were significantly related to events. At 1 month, a BNP level >91.5 pg/ml had 89% sensitivity, 59% specificity, and negative and positive predictive values of 96% and 33%, respectively, for HF progression after 12 months. CONCLUSIONS: HF patients with high BNP values after 1 month of CRT have worse prognosis during follow-up. Therefore, in these patients other therapeutic options should be considered.
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Estimulación Cardíaca Artificial , Insuficiencia Cardíaca/sangre , Insuficiencia Cardíaca/terapia , Péptido Natriurético Encefálico/sangre , Anciano , Progresión de la Enfermedad , Ecocardiografía Doppler , Femenino , Insuficiencia Cardíaca/diagnóstico por imagen , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Marcapaso Artificial , Pronóstico , Modelos de Riesgos Proporcionales , Medición de Riesgo , Análisis de Supervivencia , Remodelación VentricularRESUMEN
Increased circulating levels of endogenous ouabain (EO) have been observed in some heart failure patients, but their long term clinical significance is unknown. This study investigated the prognostic value of EO for worsening heart failure among 140 optimally treated patients (age 50+/-14 years; 104 male; NYHA class 1.9+/-0.7) with idiopathic dilated cardiomyopathy. Plasma EO was determined by RIA and by liquid chromatography mass spectrometry, values were linearly correlated (r = 0.89) in regression analysis. During follow-up (13+/-5 months), heart failure progression was defined as worsening clinical condition leading to one or more of the following: sustained increase in conventional therapies, hospitalization, cardiac transplant, or death. NYHA functional class, age, LVEF, peak VO2 and plasma levels of EO were predictive for heart failure progression. Heart failure worsened 1.5 fold (HR: 1.005; 95% CI: 1.001-1.007; p<0.01) for each 100 pmol/L increase in plasma EO. Moreover, those patients with higher plasma EO values had an odds ratio of 5.417 (95% CI: 2.044-14.355; p<0.001) for heart failure progression. Following multivariate analysis, LVEF, NYHA class and plasma EO remained significantly linked with clinical events. This study provides the first evidence that circulating EO is a novel, independent and incremental marker that predicts the progression of heart failure.
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Cardiomiopatía Dilatada/sangre , Ouabaína/sangre , Análisis de Varianza , Estudios de Casos y Controles , Progresión de la Enfermedad , Prueba de Esfuerzo , Femenino , Humanos , Masculino , Espectrometría de Masas , Persona de Mediana Edad , Consumo de Oxígeno , Pronóstico , Estudios Prospectivos , Radioinmunoensayo , Análisis de Regresión , Volumen SistólicoRESUMEN
OBJECTIVE: Impaired diastolic function and left ventricular hypertrophy can occur early in the natural history of essential hypertension. High circulating levels of endogenous ouabain (EO) have been described in essential hypertension and have also been associated with left ventricular hypertrophy. The aim of this study was to investigate whether these cardiac modifications are related to plasma EO levels in the offspring of hypertensive families. METHODS: The study involved 41 subjects with (FAM+) and 45 subjects without (FAM-) a family history of hypertension. Arterial blood pressure, left ventricular geometry and function, and plasma EO levels were measured in each subject. RESULTS: Plasma EO levels were higher in the FAM+ subjects (221.5 +/- 10.95 versus 179.6 +/- 9.58 pmol/l, P = 0.004), and directly correlated with both systolic (r = 0.417, P < 0.0001) and diastolic blood pressure (r = 0.333, P = 0.002). Plasma EO was inversely related to an index of cardiac diastolic function determined as the ratio between the early and late peak flow velocity (r = -0.286, P = 0.012) and isovolumetric relaxation time (IVRT) (r = 0.32, P = 0.003). The IVRT was also significantly higher in FAM+, correlated with the IVRT (r = 0.32, P = 0.003). The IVRT was also significantly higher in FAM+, whereas the other echocardiographic parameters were similar to FAM-. CONCLUSIONS: Among the offspring of families with a positive history of hypertension, circulating EO levels and blood pressure are increased. Plasma EO levels are related to alterations of some indexes of diastolic heart function in these individuals.
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Presión Sanguínea , Salud de la Familia , Hipertensión/sangre , Ouabaína/sangre , Adulto , Monitoreo Ambulatorio de la Presión Arterial , Ecocardiografía Doppler , Femenino , Humanos , Hipertrofia Ventricular Izquierda/complicaciones , Hipertrofia Ventricular Izquierda/fisiopatología , Modelos Lineales , MasculinoRESUMEN
PURPOSE: Increased sympathetic nervous system activation via the beta-adrenergic pathway influences the evolution of idiopathic dilated cardiomyopathy. We assessed the effects of beta-adrenergic receptor variants on heart failure in idiopathic dilated cardiomyopathy. METHODS: We prospectively analyzed 171 consecutive patients (mean [+/- SD] age, 49 +/- 14 years; 129 men) with idiopathic dilated cardiomyopathy who were receiving conventional treatment. All were characterized by polymerase chain reaction-restriction fragment length polymorphism analysis for Ser49Gly and Arg389Gly in the beta1-adrenergic receptor; the 5' leader cistron (LC) Arg19Cys, Arg16Gly, Gln27Glu, and Thr164Ile in the beta2-adrenergic receptor; and Arg64Trp in the beta3-adrenergic receptor. The endpoint was heart failure, defined as a worsening of clinical condition leading to hospitalization for heart failure, cardiac transplantation, or death from heart failure. RESULTS: During a median follow-up of 33 months, 24 patients had heart failure. In a Cox univariate analysis, the beta1Gly49 and beta2 5'LC-Cys19, Arg16, and Gln27 alleles were associated with a lower risk of heart failure. In a multivariate analysis that considered age, functional class, left ventricular ejection fraction, and beta-blocker use, three beta2-adrenergic receptor alleles were associated with lower risk: 5'LC-Cys19 (hazard ratio [HR]: 0.15; 95% confidence interval [CI]: 0.05 to 0.42), Arg16 (HR: 0.12; 95% CI: 0.04 to 0.35), and Gln27 (HR: 0.15; 95% CI: 0.05 to 0.42). CONCLUSION: The Gly49 allele in the beta1-adrenergic receptor and the 5' LC-Cys19, Arg16, and Gln27 alleles in the beta2-adrenergic receptor were associated with a lower risk of heart failure in idiopathic dilated cardiomyopathy, suggesting that the beta1- and beta2-adrenergic receptor genes are modifier genes.
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Cardiomiopatía Dilatada , Variación Genética/genética , Insuficiencia Cardíaca/etiología , Polimorfismo de Longitud del Fragmento de Restricción , Receptores Adrenérgicos beta/genética , Antagonistas Adrenérgicos beta/uso terapéutico , Anciano , Análisis de Varianza , Cardiomiopatía Dilatada/complicaciones , Cardiomiopatía Dilatada/genética , Causas de Muerte , Progresión de la Enfermedad , Femenino , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/terapia , Trasplante de Corazón , Hospitalización/estadística & datos numéricos , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Pronóstico , Modelos de Riesgos Proporcionales , Estudios Prospectivos , Factores de Riesgo , Transducción de Señal/genética , Sistema Nervioso Simpático , Función Ventricular IzquierdaRESUMEN
BACKGROUND: In chronic heart failure (CHF), the derangement of autonomic nervous system activity has a deep impact on the progression of the disease. It has been demonstrated that modulation of the renin-angiotensin aldosterone system (RAAS) increases autonomic control of heart rate and reduces adrenergic activity. We sought to evaluate, in CHF, the different effects of an ACE inhibitor (lisinopril) and of an AT1 receptor antagonist (valsartan) on heart rate variability, baroreflex sensitivity and norepinephrine plasma levels. METHODS: Ninety patients (61 +/- 10 years, 2.3 +/- 0.5, New York Heart Association class) with CHF and left ventricular ejection fraction <40% were randomly assigned in a double-blind fashion to receive lisinopril (uptitrated to 20 mg/d) or valsartan (uptitrated to 160 mg/d) therapy for 16 weeks. Heart rate variability (evaluated by measuring standard deviation of normal R-R intervals on 24-hour ECG recordings), spontaneous baroreflex sensitivity and aldosterone and norepinephrine plasma levels were assessed before and after drug therapy. RESULTS: There were no significant differences between valsartan and lisinopril in their effects on left ventricular function, arterial pressure, aldosterone plasma levels and autonomic control of heart rate. Both lisinopril and valsartan significantly reduced plasma norepinephrine levels, but the reduction induced by valsartan was significantly greater than that observed for lisinopril (27% vs 6%, P <.05). CONCLUSIONS: This study shows a comparable effect of ACE inhibition (lisinopril) and of AT1 receptor antagonism (valsartan) on cardiac vagal control of heart rate, whereas valsartan has shown a more effective modulation of sympathetic activity measured by plasma norepinephrine levels.
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Sistema Nervioso Autónomo/efectos de los fármacos , Insuficiencia Cardíaca/tratamiento farmacológico , Insuficiencia Cardíaca/fisiopatología , Lisinopril/uso terapéutico , Tetrazoles/uso terapéutico , Valina/uso terapéutico , Bloqueadores del Receptor Tipo 1 de Angiotensina II , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Progresión de la Enfermedad , Método Doble Ciego , Femenino , Frecuencia Cardíaca/efectos de los fármacos , Humanos , Masculino , Persona de Mediana Edad , Norepinefrina/sangre , Valina/análogos & derivados , ValsartánRESUMEN
Natriuretic peptide system plays a well-defined role in the regulation of blood pressure and fluid volume. Although the effects of natriuretic peptides (atrial natriuretic peptide, brain natriuretic peptide and C-type natriuretic peptide) are mediated by specific biologic receptors, their plasma level is influenced by clearance receptors. It has been demonstrated that in hypertensive subjects plasma levels of natriuretic peptides are impaired; furthermore peptide receptor polymorphisms have been shown to be significantly associated with hypertension and cardiac hypertrophy. Studying normotensive subjects at high genetic risk of developing hypertension on the basis of family history makes it possible to investigate the role of natriuretic peptide system in the genesis of hypertension. It has been shown that plasma atrial and ventricular natriuretic peptide levels are significantly reduced in normotensive subjects with a family history of hypertension. Our study is the first one showing association among positive family history of essential hypertension and natriuretic peptide receptor polymorphisms. We identified a novel insertion/deletion polymorphism at position 15,129 in the 3'-untranslated region (3'-UTR) of NPRA receptor mRNA. The NPRA gene deletion variant is associated with hypertensive family history and higher systolic blood pressure. The "deletion 15129" variant might participate in the functional impairment of natriuretic peptide system defining an increased genetic susceptibility to hypertension.
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Eliminación de Gen , Guanilato Ciclasa/genética , Hipertensión/metabolismo , Natriuréticos/sangre , Péptido Natriurético Encefálico/sangre , Péptido Natriurético Tipo-C/sangre , Polimorfismo Genético , Receptores del Factor Natriurético Atrial/genética , Humanos , Hipertensión/sangre , Hipertensión/genéticaRESUMEN
OBJECTIVE: Beta1- and beta2-adrenergic receptors (ARs) play a pivotal role in myocardial function. We investigated whether functionally relevant polymorphisms within the genes encoding for these receptors indicate susceptibility to idiopathic dilated cardiomyopathy (DCM). METHODS: This case-control association study involved 189 patients with DCM and 378 gender- and age-matched control subjects. All of the subjects were characterised by polymerase chain reaction-restriction fragment length polymorphism analysis in terms of Ser49Gly and Arg389Gly polymorphisms in the beta1-AR, and the 5' leader cistron Arg19Cys, Arg16Gly, Gln27Glu, and Thr164Ile polymorphisms in the beta2-AR. Genotype, allele and haplotype frequencies were analysed. RESULTS: Univariate analysis showed that the distribution of genotype and allele frequencies of the beta1-Ser49Gly, beta1-Arg389Gly and beta2-Arg16Gly polymorphisms was significantly different between the patients and controls, and the beta1-Gly49/beta1-Arg389 haplotype was significantly more represented in the patients. Multivariate analysis showed that only the beta1-Gly49 variant (odds ratio 1.91; 95% confidence interval 1.24-2.95; P = 0.003) and beta2-Gly16Gly genotype (odds ratio 1.58; 95% confidence interval 1.10-2.26; P = 0.013) carriers were at significantly higher risk of developing DCM. CONCLUSIONS: In our population from southern Italy, the Gly49 allele of the beta1-AR and the Gly16Gly genotype of the beta2-AR were significantly and independently associated with the DCM phenotype, thus suggesting their role in favouring susceptibility to the disease.
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Cardiomiopatía Dilatada/genética , Polimorfismo de Longitud del Fragmento de Restricción , Receptores Adrenérgicos beta 1/genética , Receptores Adrenérgicos beta 2/genética , Adulto , Cardiomiopatía Dilatada/fisiopatología , Cardiomiopatía Dilatada/terapia , Fármacos Cardiovasculares/uso terapéutico , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Italia , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Fenotipo , Proyectos de Investigación , Medición de Riesgo , Factores de Riesgo , Índice de Severidad de la Enfermedad , Función Ventricular IzquierdaRESUMEN
BACKGROUND: The offspring of hypertensive families are characterized by higher arterial blood pressure values and a depressed autonomic control of heart rate. The present study aimed to verify whether these differences are associated with a different genotype distribution of functionally relevant polymorphisms of the alpha- and beta-adrenergic receptor (AR) genes. METHODS: We selected 109 age- and sex-matched young normotensive subjects with (FH+, n = 56) and without (FH-, n = 53) a family history of hypertension who underwent evaluation of arterial pressure; 24-h electrocardiogram monitoring to assess time-domain parameters of autonomic heart rate control [i.e. mean RR interval (NN), SD of RR intervals (SDNN) and mean square root of the differences of consecutive RR intervals (rMSSD)]; spectral baroreflex sensitivity measurement; and echo-Doppler to assess diastolic function and left ventricular mass. They were also characterized for the following polymorphisms by means of polymerase chain reaction-restriction fragment polymorphism analysis: Arg492Cys in the alpha1a-AR; Del301-303 in the alpha2b-AR; Ser49Gly and Arg389Gly in the beta1-AR; and the 5' leader cistron Arg19Cys, Arg16Gly and Gln27Glu in the beta2-AR. RESULTS: FH+ individuals showed a higher systolic pressure, a lower SDNN and a greater isovolumic relaxation time compared to normotensive offspring. No differences were found between the two groups when genotype distribution of the studied polymorphisms was considered. Subjects carrying alpha1a-AR Cys492 allelic variant showed lower values of NN, SDNN and rMSSD, independent of age, gender and body mass index. CONCLUSIONS: The functionally relevant polymorphisms of alpha2b-, beta1- and beta2-AR genes are not associated with a family history of essential hypertension. The Arg492Cys polymorphism of the alpha1a-AR gene, although not associated with a family history of hypertension, was strongly related to autonomic control of heart rate.