RESUMEN
BACKGROUND: Hypertrophic cardiomyopathy (HCM) has a great variability in its morphofunctional expression. This study analyzes whether angiotensin-converting enzyme (ACE) and angiotensinogen (AGT) gene polymorphisms modulate the phenotypic expression in Spanish patients with HCM. PATIENTS AND METHODS: Forty Spanish HCM patients were studied. Twenty-six out of these 40 patients belonged to 7 families with familial HCM, and the remaining 14 patients had either a sporadic HCM or a HCM with unknown family incidence. A group of 269 healthy subjects was included as control for the genotype study. Maximal wall thickness, ventricular mass and several diastolic function indexes were measured in each patient by Doppler-echocardiography. The insertion/deletion (I/D) polymorphism of ACE gene and the M235T polymorphism of AGT gene were studied in both patients and healthy subjects. RESULTS: A higher frequency in patients than in controls was found for D allele (0.79 vs 0.64; p = 0.02) and for DD genotype (62.5 vs 41.2%; p = 0.02). Conversely, no difference was observed in M235T polymorphism between both groups. Neither DD genotype of ACE, nor TT genotype of AGT determined a greater degree of ventricular hypertrophy or a worse diastolic function in patients with HCM. CONCLUSIONS: D allele and DD genotype are predisposing factors to express HCM. In this series of Spanish patients, I/D polymorphism of ACE and M235T polymorphism of AGT do not modify phenotypic expression of HCM.
Asunto(s)
Angiotensinógeno/genética , Cardiomiopatía Hipertrófica/genética , Regulación Enzimológica de la Expresión Génica/genética , Peptidil-Dipeptidasa A/genética , Polimorfismo Genético/genética , Adolescente , Adulto , Anciano , Secuencia de Bases , Cardiomiopatía Hipertrófica/diagnóstico por imagen , Sondas de ADN , Ecocardiografía Doppler/estadística & datos numéricos , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Fenotipo , Reacción en Cadena de la Polimerasa/métodos , EspañaRESUMEN
We report a case of an adult male in whom, one week after an anterior acute myocardial infarction, we documented nocturnal episodes of type II second degree atrio-ventricular heart block, including advanced heart block episodes (4:1). An electrophysiologic study did not show atrio-ventricular conduction abnormalities, so we suspected a possible sleep apnea syndrome, which was confirmed with a polysomnographic study. It was observed that advanced heart block episodes were preceded by significant decreases in arterial oxygen saturation. These episodes disappeared with continuous positive air pressure ventilation.
Asunto(s)
Bloqueo Cardíaco/etiología , Infarto del Miocardio/complicaciones , Síndromes de la Apnea del Sueño/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Respiración con Presión Positiva , Síndromes de la Apnea del Sueño/diagnóstico , Síndromes de la Apnea del Sueño/terapiaRESUMEN
The cholesterol embolization is a rare complication of atherosclerosis. A direct implication of the treatment with anticoagulants in the etiology of the disease has been questioned, and now such therapy is considered more as an adjuvant factor with angiographic procedures than as a cause. A 60-year-old patient with an ischemic cardiomyopathy presented cholesterol embolization syndrome, confirmed by cutaneous biopsy histologic examination during treatment with heparin. Spontaneous evolution was favourable and only limited amputation of the lower limbs were required. The authors think that cholesterol emboli have a direct relationship to the treatment with heparin in this case, there being no other causes to justify its appearance.