RESUMEN
INTRODUCTION: Gitelman syndrome (GS) is a tubulopathy caused by SLC12A3 gene mutations, which lead to hypokalaemic alkalosis, secondary hyperaldosteronism, hypomagnesaemia and hypocalciuria. AIM: The aim of this study was to assess the prevalence of SLC12A3 gene mutations in adult hypokalaemic patients; to compare the phenotype of homozygous, heterozygous and non-mutated patients; and to determine the efficiency of treatment. METHODS: Clinical, biological and genetic data were recorded in 26 patients. RESULTS: Screening for the SLC12A3 gene detected two mutations in 15 patients (six homozygous and nine compound heterozygous), one mutation in six patients and no mutation in five patients. There was no statistical difference in clinical symptoms at diagnosis between the three groups. Systolic blood pressure tended to be lower in patients with two mutations (P=0.16). Hypertension was unexpectedly detected in four patients. Five patients with two mutated alleles and two with heterozygosity had severe manifestations of GS. Significant differences were observed between the three groups in blood potassium, chloride, magnesium, supine aldosterone, 24 h urine chloride and magnesium levels and in modification of the diet in renal disease. Mean blood potassium levels increased from 2.8 ± 0.3, 3.5 ± 0.5 and 3.2 ± 0.3 before treatment to 3.2 ± 0.5, 3.7 ± 0.6 and 3.7 ± 0.3 mmol/l with treatment in groups with two (P=0.003), one and no mutated alleles respectively. CONCLUSION: In adult patients referred for renal hypokalaemia, we confirmed the presence of mutations of the SLC12A3 gene in 80% of cases. GS was more severe in patients with two mutated alleles than in those with one or no mutated alleles. High blood pressure should not rule out the diagnosis, especially in older patients.
Asunto(s)
Síndrome de Gitelman/genética , Síndrome de Gitelman/metabolismo , Hipopotasemia/etiología , Enfermedades Renales/complicaciones , Receptores de Droga/genética , Simportadores/genética , Adolescente , Adulto , Edad de Inicio , Anciano , Aldosterona/sangre , Presión Sanguínea/fisiología , Peso Corporal/fisiología , Preescolar , Canales de Cloruro/genética , Enfermedad Crónica , Análisis Mutacional de ADN , Complicaciones de la Diabetes/genética , Complicaciones de la Diabetes/metabolismo , Femenino , Estudios de Seguimiento , Francia , Genotipo , Humanos , Pruebas de Función Renal , Masculino , Persona de Mediana Edad , Mutación/fisiología , Fenotipo , Potasio/sangre , Miembro 3 de la Familia de Transportadores de Soluto 12 , Adulto JovenRESUMEN
BACKGROUND: Functional mitral regurgitation (FMR) may occur in patients with reduced or preserved left ventricular ejection fraction (LVEF) and has been associated with excess valvular tenting only in patients with reduced LVEF. This study aimed at identifying the predictors of FMR and to determine whether or not they are different in patients with reduced versus preserved LVEF. METHODS: 190 consecutive patients free of congenital or primary valvular disease had a comprehensive echocardiographic assessment of LV remodelling and function, diastolic function and FMR severity. RESULTS: 112 patients had depressed LVEF (<50%) and 78 had preserved LVEF. FMR was present in 30 patients with preserved LVEF and in 65 with reduced LVEF. Higher E/Ea, E/A and larger mitral tenting were independent predictors of FMR regardless of LVEF. The mitral tenting area was an independent predictor of FMR severity in patients with reduced or preserved LVEF (p = 0.04 and p = 0.0045) in addition to E/A (p = 0.0007), E/Ea (p = 0.004) in patients with reduced and preserved LVEF, respectively. Higher E/Ea was independently associated with larger mitral tenting in patients with reduced and preserved LVEF. Mitral tenting area was linearly related to E/Ea (r = 0.30, p<0.0001) and E/A (r = 0.43, p<0.0001) and LA enlargement (r = 0.54, p<0.0001) after having paired 96 patients with and without FMR on indices of LV remodelling. CONCLUSIONS: In both patients with preserved and reduced LVEF, mitral tenting that leads to FMR is mainly determined by both mitral tethering forces-that is, displacement of papillary muscles and by pushing forces-that is, increased left atrial pressure. This study underscores that LV preload is a key determinant of FMR.
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Insuficiencia de la Válvula Mitral/diagnóstico por imagen , Disfunción Ventricular Izquierda/diagnóstico por imagen , Adulto , Anciano , Presión Sanguínea/fisiología , Ecocardiografía Doppler , Femenino , Humanos , Masculino , Persona de Mediana Edad , Válvula Mitral/cirugía , Insuficiencia de la Válvula Mitral/fisiopatología , Insuficiencia de la Válvula Mitral/cirugía , Estudios Retrospectivos , Volumen Sistólico , Disfunción Ventricular Izquierda/fisiopatología , Remodelación VentricularAsunto(s)
Brazo , Cuerpos Extraños/etiología , Heroína , Cuello , Abuso de Sustancias por Vía Intravenosa/complicaciones , Cuerpos Extraños/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Derrame Pericárdico/diagnóstico por imagen , Derrame Pericárdico/etiología , Derrame Pericárdico/terapia , Radiografía , Resultado del TratamientoAsunto(s)
Disfunción Ventricular Izquierda/tratamiento farmacológico , Antagonistas Adrenérgicos beta/uso terapéutico , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Bisoprolol/uso terapéutico , Diuréticos/uso terapéutico , Quimioterapia Combinada , Femenino , Furosemida/uso terapéutico , Humanos , Persona de Mediana Edad , Ramipril/uso terapéutico , Espironolactona/uso terapéutico , Resultado del TratamientoRESUMEN
The authors report the case of an 84 year old woman admitted for a mild pulmonary embolism associated with severe hypoxaemia. The association of a right diaphragmatic paralysis with renewed patency of a foramenovale and creation of a right-to-left shunt is probably an underestimated cause of refractory hypoxaemia.
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Diafragma , Parálisis/etiología , Embolia Pulmonar/complicaciones , Anciano de 80 o más Años , Presión Sanguínea , Ecocardiografía Transesofágica , Femenino , Humanos , Hipoxia/fisiopatología , Parálisis/diagnóstico por imagen , Embolia Pulmonar/diagnóstico por imagen , Embolia Pulmonar/fisiopatología , Radiografía TorácicaRESUMEN
We report the case of 74 years-old female patient hospitalized for a ST+ acute coronary syndrome with normal coronary angiography. The association of a patent foramen ovale, a deep venous thrombosis and a pulmonary embolism led us to conclude the diagnosis of paradoxical coronary embolism. This case allows us to remind different etiologies to be considered in case of myocardial infarction with normal coronary arteries, and the interest of transesophageal echocardiography for the diagnosis of its etiology.
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Vasos Coronarios/diagnóstico por imagen , Ecocardiografía Transesofágica , Infarto del Miocardio/diagnóstico por imagen , Anciano , Angiografía Coronaria , Femenino , Humanos , Infarto del Miocardio/complicaciones , Embolia Pulmonar/complicaciones , Embolia Pulmonar/diagnóstico por imagenRESUMEN
Heparin-induced thrombocytopenia is rare. It should be considered if there is a reduction of at least 40% in the number of platelets and/or a level<100,000/mm3 in any patients who have received heparin in the previous 100 days. On stopping heparin, the rise in platelets is classically rapid, and normal levels are usually obtained in under 7 days. We report a case of heparin-induced thrombocytopenia, which was marked by a severe thrombocytopenia that only returned to normal 19 days after stopping heparin, in a patient treated initially with non-fractionated heparin for a pulmonary embolism secondary to an extensive deep venous thrombosis of the right lower limb.
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Anticoagulantes/efectos adversos , Heparina/efectos adversos , Trombocitopenia/inducido químicamente , Adulto , Femenino , Humanos , Embolia Pulmonar/tratamiento farmacológico , Trombosis de la Vena/tratamiento farmacológicoRESUMEN
Functional mitral regurgitation (MR) frequently develops during the progression of chronic heart failure and predicts poor outcome. Impaired left ventricular (LV) function, LV remodeling associated with papillary muscle apical displacement and annular enlargement result in decreased mitral closing forces and tenting of the mitral valve at closure. Reduced closing forces and tenting both promote MR. Active myocardial ischemia, myocardial asynchronism and excessive loading conditions worsen MR at rest and during exercise. The therapeutic target in functional MR is the left ventricle and not the valve.
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Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/fisiopatología , Insuficiencia de la Válvula Mitral/diagnóstico , Insuficiencia de la Válvula Mitral/fisiopatología , Antagonistas Adrenérgicos beta/uso terapéutico , Algoritmos , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Quimioterapia Combinada , Ecocardiografía Doppler en Color , Insuficiencia Cardíaca/tratamiento farmacológico , Humanos , Válvula Mitral/patología , Insuficiencia de la Válvula Mitral/tratamiento farmacológico , Pronóstico , Disfunción Ventricular IzquierdaRESUMEN
We report here the case of an 80 year old female suffering from Tako-tsubo syndrome diagnosed following type B aortic dissection, treated surgically with an aortic endoprosthesis. The recovery was marked by the secondary development of left intraventricular obstruction. Regression of the electrical and ultrasound anomalies was slow, taking 4 months of treatment with a beta-blocker. The intraventricular obstruction seemed to occupy a central role in this case, and we discuss the significance of this mechanical phenomenon in the pathophysiology of this syndrome.
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Disfunción Ventricular Izquierda/complicaciones , Obstrucción del Flujo Ventricular Externo/complicaciones , Antagonistas Adrenérgicos beta/uso terapéutico , Anciano de 80 o más Años , Femenino , Humanos , Síndrome , Disfunción Ventricular Izquierda/cirugía , Obstrucción del Flujo Ventricular Externo/tratamiento farmacológicoRESUMEN
OBJECTIVES: To assess non-invasively the acute effects of cardiac resynchronisation therapy (CRT) on functional mitral regurgitation (MR) at rest and during dynamic exercise. METHODS: 21 patients with left ventricular (LV) systolic dysfunction and functional MR at rest, treated with CRT, were studied. Each patient performed a symptom-limited maximal exercise with continuous two dimensional Doppler echocardiography twice. The first exercise was performed with CRT; the second exercise was performed without CRT. Mitral regurgitant flow volume (RV), effective regurgitant orifice area (ERO) and LV dP/dt were measured at rest and at peak exercise. RESULTS: CRT mildly reduced resting mitral ERO (mean 8 (SEM 2) v 11 (2) mm(2) without CRT, p = 0.02) and RV (13 (3) v 18 (3) ml without CRT, p = 0.03). CRT attenuated the spontaneous increase in mitral ERO and RV during exercise (1 (1) v 9 (2) mm(2), p = 0.004 and 1 (1) v 8 (2) ml, p = 0.004, respectively). CRT also significantly increased exercise-induced changes in LV dP/dt (140 (46) v 479 (112) mm Hg/s, p < 0.001). CONCLUSION: Attenuation of functional MR, induced by an increase in LV contractility during dynamic exercise, may contribute to the beneficial clinical outcome of CRT in patients with chronic heart failure and LV asynchrony.
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Estimulación Cardíaca Artificial , Cardiomiopatía Dilatada/terapia , Insuficiencia de la Válvula Mitral/prevención & control , Anciano , Presión Sanguínea/fisiología , Cardiomiopatía Dilatada/fisiopatología , Ecocardiografía Doppler , Ecocardiografía Doppler en Color , Prueba de Esfuerzo , Femenino , Frecuencia Cardíaca/fisiología , Humanos , Masculino , Insuficiencia de la Válvula Mitral/fisiopatología , Volumen Sistólico/fisiología , Disfunción Ventricular Izquierda/fisiopatologíaRESUMEN
PURPOSE: To report our experience with mechanical thrombectomy in proximal deep vein thrombosis (DVT). METHODS: Eighteen patients with a mean (+/- SD) age of 37.6 +/- 16.1 years who presented with DVT in the iliac and femoral vein (n = 3), inferior vena cava (n = 5), or inferior vena cava and iliac vein (n = 10), were treated with the Amplatz Thrombectomy Device after insertion of a temporary caval filter. RESULTS: Successful recanalization was achieved in 15 of 18 patients (83%). Overall, the percentage of thrombus removed was 66 +/- 29%: 73 +/- 30% at caval level and 55 +/- 36% at iliofemoral level. Complementary interventions (seven patients) were balloon angioplasty (n = 2), angioplasty and stenting (n = 2), thrombo-aspiration alone (n = 1), thrombo-aspiration, balloon angioplasty, and permanent filter (n = 1), and permanent filter alone (n = 1). There was one in-hospital death. Follow-up was obtained at a mean of 29.6 months; three patients had died (two cancers, one myocardial infarction); 10 had no or minimal sequelae; one had post-phlebitic limb. CONCLUSION: Mechanical thrombectomy is a potential therapeutic option in patients presenting with proximal DVT.
Asunto(s)
Trombectomía/instrumentación , Trombosis de la Vena/cirugía , Adulto , Diseño de Equipo , Humanos , Factores de TiempoRESUMEN
BACKGROUND: Floating right heart thrombi (FRHTS) are a rare phenomenon, encountered almost exclusively in patients with suspected or proven pulmonary embolism and diagnosed by transthoracic echocardiography. Their management remains controversial. METHODS AND RESULTS: We report on a series of 38 consecutive patients encountered over the past 12 years. Thirty-two patients were in NYHA class IV, 20 in cardiogenic shock. Echocardiography usually demonstrated signs of cor pulmonale: right ventricular overload (91.7% of the population), paradoxical interventricular septal motion (75%), and pulmonary hypertension (86. 1%). The thrombus was typically wormlike (36 of 38 patients). It extended from the left atrium through a patent foramen ovale in 4 patients. Pulmonary embolism was confirmed in all but 1. Mortality was high (17 of 38 patients) irrespective of the therapeutic option chosen: surgery (8 of 17), thrombolytics (2 of 9), heparin (5 of 8), or interventional percutaneous techniques (2 of 4). The in-hospital mortality rate was significantly linked with the occurrence of cardiac arrest. Conversely, the outcome after discharge was usually good, because 18 of 21 patients were still alive 47.2 months later (range, 1 to 70 months). CONCLUSIONS: Severe pulmonary embolism was the rule in our series of FRHTS (mortality rate, 44.7%). The choice of therapy had no effect on mortality. Emergency surgery is usually advocated. However, thrombolysis is a faster, readily available treatment and seems promising either as the only treatment or as a bridge to surgery. In patients with contraindications to surgery or lytic therapy, interventional techniques may be proposed.
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Función del Atrio Derecho/fisiología , Trombosis Coronaria/diagnóstico , Embolia Pulmonar/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Terapia Combinada , Trombosis Coronaria/complicaciones , Trombosis Coronaria/epidemiología , Trombosis Coronaria/terapia , Ecocardiografía , Femenino , Francia/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Pronóstico , Estudios RetrospectivosRESUMEN
The authors report the case of a pheochromocytoma in a 67 year old man in whom the initial clinical presentation suggested myocardial infarction. Pheochromocytoma is usually an adrenal tumour with a very variable clinical symptomatology. It is very rare for cardiac disease to be a presenting symptom. The diagnosis was suggested by major blood pressure abnormalities occurring after starting medical treatment for infarction. Pheochromocytomas may cause serious cardiovascular disorders. The diagnosis must be suspected in the presence of atypical signs, an essential requirement to reduce the mortality of the disease.
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Neoplasias de las Glándulas Suprarrenales/diagnóstico , Infarto del Miocardio/diagnóstico , Feocromocitoma/diagnóstico , Anciano , Diagnóstico Diferencial , Humanos , MasculinoRESUMEN
The authors report a case of primary biliary cirrhosis, associated with moderate pericardial effusion, in a patient with antiphospholipid antibodies. The pericardial effusion resolved, and did not recur, in response to treatment with Colchicine and ursodesoxycholic acid.
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Colagogos y Coleréticos/uso terapéutico , Cirrosis Hepática Biliar/complicaciones , Derrame Pericárdico/etiología , Ecocardiografía , Electrocardiografía , Femenino , Humanos , Persona de Mediana Edad , Compuestos Orgánicos , Derrame Pericárdico/diagnóstico por imagen , Derrame Pericárdico/tratamiento farmacológico , Recurrencia , Resultado del Tratamiento , Ácido Ursodesoxicólico/uso terapéuticoRESUMEN
BACKGROUND: There is evidence that tissue factor (TF) is a major contributor to the thrombogenicity of a ruptured atherosclerotic plaque. Nitric oxide (NO) has antiatherogenic and antithrombotic properties. We investigated whether L-arginine (L-arg), the endogenous precursor of NO, might affect the ability of monocytes to produce TF. METHODS AND RESULTS: We studied TF expression in 18 rabbits with atherosclerosis induced by bilateral iliac damage and 10 weeks of a 2% cholesterol diet. Six weeks after the initiation of the diet, an angioplasty was performed. After angioplasty, the surviving rabbits (n=15) were randomized to receive L-arg (2.25%) supplementation in drinking water (L-arg group, n=8) or no treatment (untreated group, n=7). TF expression was evaluated in mononuclear cells from arterial blood in the presence and absence of endotoxin stimulation. Monocyte TF expression, as assessed with an amidolytic assay, did not differ significantly before or after the induction of atherosclerotic lesions (87+/-15 versus 70+/-12 mU of TF/1000 monocytes, P=NS). Endotoxin-stimulated TF activity increased significantly 4 weeks after angioplasty (138+/-22 versus 70+/-12 mU of TF/1000 monocytes, P=0.02). This increase was blunted by L-arg (43+/-16 mU of TF/1000 monocytes, P=0.01). CONCLUSIONS: This study demonstrates that angioplasty-induced plaque rupture is associated with a marked increase in monocyte TF response that is blunted by the oral administration of L-arg. This suggests that the documented antithrombotic properties of NO may be related in part to an inhibitory effect on monocyte TF response.