Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis.

INTRODUCTION: Therapy with cationic amphiphilic drugs (Amiodarone or hydroxychloroquine) may result in biochemically and ultrastructurally similar lipid inclusions in many cells also affected by Fabry disease (FD). In addition, it often results in similar clinical manifestations such as cornea verticillata. This may lead to a FD misdiagnosis, especially when a complete medical history is not available to the ophthalmologist confronted with cornea verticillata or to the pathologist examining a kidney biopsy. When enzymatic/genetic test or pathological studies are not conclusive, a specific biomarker may help clarify this dilemma. The plasma globotriaosylsphingosine (lyso-Gb3) assay has high sensitivity and specificity and is elevated above normal levels in FD. MATERIALS AND METHODS: We measured plasma lyso-Gb3 levels in male patients receiving Amiodarone or hydroxychloroquine and compared it with male patients with classic and late onset variant of FD. RESULTS: In all Fabry patients (classic and late onset variant) α-GalA activity was deficient in dried blood spot and plasma lyso-Gb3 was above normal levels. Patients on treatment with Amiodarone or hydroxychloroquine had normal values for α-GalA activity and lyso-Gb3 in plasma. CONCLUSIONS: Even when Amiodarone or hydroxychloroquine may decrease α-GalA activity in vitro or in cell culture, our results showed that in all patients lyso-Gb3 plasma levels remain normal with no evidence of reduction in α-GalA activity, confirming the specificity of this biomarker for the diagnosis of FD.

[Adult congenital anomalies of the coronary arteries described over 31 years of angiographic studies in the Asturias Principality: main angiographic and clinical characteristics]. / Anomalías congénitas de las arterias coronarias del adulto descritas en 31 años de estudios coronariográficos en el Principado de Asturias: principales características angiográficas y clínicas.

OBJECTIVE: The aim of this study was to determine the incidence of adult congenital anomalies of the coronary arteries over 31 years of angiographic studies, describing their angiographic and clinical characteristics. The results have been compared with the main series published. METHODS: The diagnostic angiographic reports done in the Principado de Asturias from 1968 to 1999 are reviewed. In those in which a congenital anomaly was diagnosed, the clinical report and the angiography were studied. The initial course of the anomaly was defined following angiographic criteria. RESULTS: Thirteen thousand five hundred reports were reviewed describing 75 patients with 75 anomalies (0.5%) including: anomalous origin of the left circumflex coronary artery (n = 24), coronary artery fistulae (n = 21), both coronary arteries arising from the left coronary sinus (n = 15), single coronary arteries (n = 6), both coronary arteries arising from the right coronary sinus (n = 2), separated origin of anterior descending and left circumflex coronary arteries (n = 3), anterior descending artery arising from the right coronary sinus (n = 2), and others (n = 1). Angiographic studies were done because of: angina (59%), dysnea (25%), atypical chest pain (7%), syncope (3%), dizziness (3%) and palpitations (3%). The initial course was retroaortic in all the circumflex arteries, interarterial in the right coronaries, anterior in the anterior descending arteries and retroaortic, septal and combined, in the left coronaries. CONCLUSIONS: Adult congenital anomalies of the coronary arteries are not very common and are usually casual findings of diagnostic angiographic studies. Left circumflex coronary artery anomalies are the most frequently diagnosed.

Etiología y factores de riesgo en una muestra de 200 pacientes consecutivos con insuficiencia cardiaca / Etiology and risk factors in a serie of 200 consecutive patients with heart failure

No disponible

[The etiology and associated risk factors in a sample of 300 patients with atrial fibrillation]. / Estudio de la etiología y factores de riesgo asociados en una muestra de 300 pacientes con fibrilación auricular.

PURPOSE: To analyze the etiology and the prevalence of risk factors in patients with atrial fibrillation. PATIENTS AND METHODS: Applying an unpaired case controlled study, we examined 300 consecutive patients (143 men) with atrial fibrillation and a mean age of 66 +/- 8 years. This group is compared with a control group of 700 patients (mean age 64 +/- 12 years). RESULTS: In the group with atrial fibrillation the etiology in 32% was arterial hypertension, in 20% coronary heart disease, in 13% valvular heart disease, in 11% heart failure, in 4% hyperthyroidism and in 20% idiopathic. 50% presented hypertension, 29% tobaccoism, 26% left ventricular hypertrophy, 20% consumption of alcohol, 19% hypercholesterolemia and 16% diabetes. Compared with the control group, patients with atrial fibrillation had coronary heart disease (p < 0.05), VHD (p < 0.01), myocardiopathy (p < 0.05), HT (p < 0.001), left ventricular hypertrophy (p < 0.001), diabetes (p < 0.01) and alcohol consumption (p < 0.01) more frequently. In the multivariant analysis heart failure (odds ratio 2.1 [1.2-3.3]), the valvular heart disease (odds ratio 2.2 [1.4-3.5]), the coronary heart disease (odds ratio 1.8 [1.2-2.6]), the arterial hypertension (odds ratio 1.7 [1.2-2.3]), the left ventricular hypertrophy (odds ratio 2.6 [1.7-3.8]), the diabetes (odds ratio 1.9 [1.2-2.9]) and alcoholic habits (odds ratio 2 [1.3-3.9]) were independent risk factors for atrial fibrillation in our population. CONCLUSIONS: Atrial fibrillation in our study, is more frequent in patients with arterial hypertension, coronary heart disease or valvular heart disease. There are other risk factors such as arterial hypertension, diabetes and consumption of alcohol too, the modification of which could diminish the risk of the appearance of atrial fibrillation.

Estudio de los factores de riesgo asociados y la prevalenciade cardiopatía en varones consumidores habituales de alcohol / Study of associated risk factors and prevalence of heart disease in men with alcoholic habit

Fundamento: Se estudia la prevalencia de cardiopatía y la asociación con otros factores de riesgo cardiovascular. Método: En una muestra prospectiva de 166 varones consumidores excesivos de alcohol (>60 grs/etanol/día) con edad media de 60ñ10 años (Grupo A). Este grupo se compara con 367 varones no bebedores y con edad media de 61ñ9 años (Grupo C). Resultados: En nuestro medio el 89 % de los varones con hábito etílico eran fumadores, el 36 porciento tenían hipertensión arterial, el 25 porciento niveles altos de colesterol total y el 17 porciento de triglicéridos, el 19 porciento hiperuricemia, el 13 porciento diabetes y el 15 porciento hipertrofia ventricular izquierda. La cifra media de HDL-Col fue de 67ñ12 mgrs/dl en el grupo A y de 58ñ10 en el grupo C con p<0,001. El 48 porciento del grupo A presentaba algún tipo de cardiopatía, isquémica en el 15 porciento, insuficiencia cardíaca en el 18 porciento y fibrilación auricular en el 15 porciento. Comparados con el grupo control se encontraron diferencias significativas para el tabaquismo (89 % A y 50 porciento C, p<0,001), la diabetes (13 % A y 7 porciento C, p<0,05), la hiperuricemia (19 % A y 8 % C, p<0,001), la hipertrigliceridemia (17 % A y 8 porciento C, p<0,01) y número total de factores de riesgo (2,9ñ1,2 A y 1,5ñ1,2 C, p<0,001). El porcentaje de individuos con cardiopatía es mayor en los varones bebedores (69 porciento C y 52 % A, p<0,05), siendo mayor también la prevalencia de insuficiencia cardíaca (18 % A y 10 porciento B, p<0,05) y fibrilación auricular (15 % A y 9 porciento C, p<0,05). Conclusiones: Los varones consumidores excesivos de alcohol en nuestro medio presentan habitualmente otros factores de riesgo coronario, fundamentalmente tabaco, diabetes, hiperuricemia e hipertrigliceridemia. En este grupo es más frecuente la presencia de cardiopatía, siendo el alcohol un factor de riesgo importante para el desarrollo de fibrilación auricular e insuficiencia cardíaca (AU)

[Spontaneous echocardiographic contrast in the left ventricle: apropos of 2 cases]. / Contraste ecocardiográfico espontáneo en el ventrículo izquierdo: a propósito de dos casos.

Two cases of spontaneous echocardiographic contrast in the left ventricle, using transthoracic echocardiography, are presented. One is due to a low-flow state in a patient with a dilated myocardiopathy. In the other we observed the echogenicity of a turbulent intracardiac blood flow across a mitral prosthesis. We considered the different theories that tried to explain the multiple origin of this "smoke".

[Reversible dilated cardiomyopathy and hyperthyroidism]. / Miocardiopatía dilatada reversible e hipertiroidismo.

Thyrotoxicosis may precipitate atrial fibrillation, myocardial ischemia or heart failure if underlying heart disease is present. However, reversible dilated cardiomyopathy is rare. We report a case of a 51-year-old man with thyrotoxicosis and dilated cardiomyopathy that was reversed with antithyroid treatment.

[Restrictive cardiac involvement in a patient with dyserythropoietic anemia and secondary hemochromatosis]. / Afectación cardíaca restrictiva en una paciente con anemia diseritropoyética y hemocromatosis secundaria.

We report a case of a 63 year old woman diagnosed with dyserythropoietic anemia who was admitted to our hospital with congestive heart failure. Iron's metabolism disturbance, CT-Scan and magnetic resonance imaging allowed us to make the diagnosis of acquired hemochromatosis due to multiple transfusions. The echocardiographic study was compatible with a myocardial restrictive pattern caused by iron deposits.

[Left coronary artery with anomalous origin and course]. / Arteria coronaria izquierda con origen y trayecto anómalos.

We report a 45 year-old patient with angina and positive exercise test. In the coronary arteriography that left coronary artery rose from a vascular structure that connected the aorta to the middle of the left anterior descending coronary artery. In the right coronary artery there was a 90% stenosis. An ACTP was made in this stenosis. The patient displayed no symptoms eight months after the procedure. We have not found in the literature and anomaly of the left coronary artery similar to what was found in this patient.