RESUMEN
The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson-Fabry Disease (AFD) presentation patterns. The aim of this study was to analyze the penetrance, clinical phenotype, and biochemical profile of an international cohort of patients carrying the p.Arg301Gln genetic variant in the GLA gene. This was an observational, international, and retrospective cohort case series study of patients carrying the p.Arg301Gln variant in the GLA gene associated with AFD disease. Forty-nine p.Arg301Gln GLA carriers, 41% male, were analyzed. The penetrance was 63% in the entire cohort and 1.5 times higher in men. The mean age of symptoms onset was 41 years; compared to women, men presented symptoms earlier and with a shorter delay to diagnosis. The typical clinical triad-cornea verticillate, neuropathic pain, and angiokeratomas-affected only 20% of the cohort, with no differences between genders. During follow-up, almost 20% of the patients presented some type of nonfatal cardiovascular and renal event (stroke, need for dialysis, heart failure, and arrhythmias requiring intracardiac devices), predominantly affecting men. Residual levels were the most common finding of α-GAL A enzyme activity, only a few women had a normal level; a small proportion of men had undetectable levels. The incidence of combined outcomes including all causes of death was 33%, and the cumulative incidence of all-cause mortality was 9% at the follow-up. Patients carrying the p.Arg301Gln GLA variant have a high penetrance, with predominantly cardiorenal involvement and clinical onset of the disease in middle age. Only a small proportion showed the classic clinical presentation of AFD. As in other X-linked diseases, males were more affected by severe cardiovascular and renal events. This genotype-phenotype correlation could be useful from a practical clinical point of view and for future decision making.
Asunto(s)
Enfermedad de Fabry , Fenotipo , alfa-Galactosidasa , Humanos , Enfermedad de Fabry/genética , Masculino , alfa-Galactosidasa/genética , Femenino , Persona de Mediana Edad , Adulto , Estudios Retrospectivos , Anciano , PenetranciaRESUMEN
A 55-year-old patient presented with stable angina pectoris with normal physical examination on rest electrocardiogram and cardiac echocardiogram. Treadmill test revealed exercise-induced left posterior fascicular block, which is an uncommon and easily unnoticed marker of coronary artery disease. A dobutamine stress echocardiogram was performed, with a clearly positive result. Coronary angiography revealed critical stenosis in the right coronary artery.
Asunto(s)
Bloqueo de Rama , Enfermedad de la Arteria Coronaria , Bloqueo de Rama/diagnóstico , Angiografía Coronaria , Enfermedad de la Arteria Coronaria/diagnóstico , Electrocardiografía , Prueba de Esfuerzo , Humanos , Persona de Mediana EdadRESUMEN
BACKGROUND: Spontaneous coronary artery dissection and takotsubo syndrome are non-atherosclerotic causes of acute coronary syndromes. They share clinical features including female predominance and frequent triggers. We compared the outcomes of patients with spontaneous coronary artery dissection and patients with takotsubo syndrome with similar clinical characteristics. METHODS: Patients with spontaneous coronary artery dissection (n=81) or takotsubo syndrome (n=341) were 1:1 propensity matched according to age, sex, cardiovascular risk factors and clinical presentation. We compared baseline characteristics, effects on left ventricular function, and recurrence of major adverse cardiovascular events; defined as a composite of new hospitalisation for cardiac cause, clinical recurrence (spontaneous coronary artery dissection/takotsubo syndrome), myocardial infarction and death. RESULTS: Propensity score yielded 78 pairs: 85% were women, whose average age was 55.3±12.6 years, 28% had two or more cardiovascular risk factors, 37% presented with ST-segment elevation and 5% presented with cardiogenic shock. In the spontaneous coronary artery dissection group, 50% (39/78) of cases involved the left anterior descending artery and 18% (14/78) underwent revascularisation. After a median follow-up of 5 years (interquartile range 2.4-5), major adverse cardiovascular events were significantly higher in the spontaneous coronary artery dissection group (18% (14/78) vs. 8% (6/78); hazard ratio 3.40, 95% confidence interval 1.2-9.4). This was mainly driven by early readmissions for cardiac causes (17% vs. 5%, P=0.007). Spontaneous coronary artery dissection was associated with higher peak values of creatinine kinase during admission (creatinine kinase/upper limit of normality 2.49 vs. 1.21, P<0.001). Binary left ventricular systolic dysfunction was more prevalent in the takotsubo syndrome group (22% vs. 53%, P<0.001), but no significant differences were noted at follow-up (6% vs. 1%, P=0.181). CONCLUSIONS: In this cohort of middle-aged predominantly female patients presenting with acute coronary syndromes, the diagnosis of spontaneous coronary artery dissection compared to takotsubo syndrome conferred a worse long-term clinical outcome, mainly driven by an increased risk of rehospitalisation for cardiac causes.
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Síndrome Coronario Agudo/diagnóstico , Anomalías de los Vasos Coronarios/diagnóstico , Puntaje de Propensión , Cardiomiopatía de Takotsubo/diagnóstico , Enfermedades Vasculares/congénito , Síndrome Coronario Agudo/etiología , Angiografía Coronaria , Anomalías de los Vasos Coronarios/complicaciones , Diagnóstico Diferencial , Electrocardiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Cardiomiopatía de Takotsubo/complicaciones , Enfermedades Vasculares/complicaciones , Enfermedades Vasculares/diagnósticoRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Niño , Anillo Vascular/diagnóstico por imagen , Estenosis Traqueal/diagnóstico por imagen , Anillo Vascular/complicaciones , Ultrasonografía Prenatal/métodos , Ecocardiografía , Tomografía Computarizada Multidetector/métodosRESUMEN
BACKGROUND: Current consensus recommends extended vascular investigation in patients with spontaneous coronary artery dissection (SCAD). We here report our experience with the use of magnetic resonance angiography (MRA) for screening extra-coronary arteriopathy in patients presenting with SCAD. METHODS: Patients presenting with SCAD in a Spanish centre underwent prospective contrast-enhanced MRA to assess the cephalic and abdominopelvic arterial territories. Fibromuscular dysplasia (FMD) was diagnosed following European consensus criteria. Other vascular abnormalities were recorded separately. Two vascular radiologists supervised the acquisitions and independently analysed the results for all cases. RESULTS: Forty patients with SCAD [mean age 50.9±8.6 years, 90% (n=36) women] were included in the study, 12 patients declined to participate and 5 were excluded (metallic implanted devices). All enrolled patients underwent the screening protocol without complications. MRA demonstrated at least one extra-coronary vascular abnormality in 16 patients (40%): 5 (12.5%) were diagnosed with FMD, 6 (15%) showed arterial tortuosity, 3 (7.5%) had non-FMD focal stenoses, and 2 (5%) were found to have small aneurysms at the celiac trunk and splenic artery. No intracranial aneurysms were detected. At a mean follow-up of 4±3 years from the index episode, two cases experienced SCAD recurrences, one in a patient with FMD and the other one in a patient with arterial tortuosity. No deaths or strokes occurred. CONCLUSIONS: Systematic extended vascular study with MRA was feasible and demonstrated associated extra-coronary arteriopathy in a substantial proportion of patients presenting with SCAD; however, none required additional intervention or led to vascular events. MRA, being a radiation-free modality, may be the preferred method for screening extracoronary arteriopathy in SCAD, a condition primarily affecting young and middle-age women sensitive to the risks of radiation.
RESUMEN
OBJECTIVE: Female sex has been associated with differences in diagnostic and management of acute coronary syndrome (ACS). Our aim was to analyze sex differences in ACS with interventional management in a tertiary care hospital. METHODS: Patients with ACS admitted to a Spanish tertiary care referral center were included prospectively and consecutively. All patients included in the study underwent a coronary angiography. RESULTS: From the total cohort of 1214 patients, 290 (24%) were women. Women were older (71⯱â¯12.8 vs 64⯱â¯13.4â¯years, pâ¯<â¯0.001) and showed lower ischemic risk and higher hemorrhagic risk scores (GRACE 159⯱â¯45 vs 171⯱â¯42, pâ¯=â¯0.005; CRUSADE 41⯱â¯19 vs 28⯱â¯17, pâ¯<â¯0.001). There were no significant differences in time to coronary angiography and revascularization rates between sex groups. A lower proportion of women received high-potency antiplatelet agents (29% vs 41.3%, pâ¯=â¯0.004). In-hospital evolution and one-year mortality were similar between groups. CONCLUSIONS: In our population, there were no gender differences in management and prognosis of ACS. Differences in risk profile among groups could have an influence on antiplatelet therapy.
Asunto(s)
Síndrome Coronario Agudo/terapia , Disparidades en Atención de Salud , Revascularización Miocárdica , Inhibidores de Agregación Plaquetaria/administración & dosificación , Síndrome Coronario Agudo/diagnóstico por imagen , Síndrome Coronario Agudo/mortalidad , Anciano , Anciano de 80 o más Años , Angiografía Coronaria , Bases de Datos Factuales , Femenino , Disparidades en el Estado de Salud , Mortalidad Hospitalaria , Humanos , Masculino , Persona de Mediana Edad , Revascularización Miocárdica/efectos adversos , Revascularización Miocárdica/mortalidad , Inhibidores de Agregación Plaquetaria/efectos adversos , Estudios Prospectivos , Medición de Riesgo , Factores de Riesgo , Factores Sexuales , España , Centros de Atención Terciaria , Factores de Tiempo , Resultado del TratamientoRESUMEN
ST-elevation myocardial infarction (STEMI) in very young patients is an uncommon entity but with significant clinical meaning for the patient. These individuals may have different risk profiles and prognosis. Few reports have described epidemiology, clinical features, and long-term outcomes of these patients in the era of percutaneous coronary intervention, particularly of those ≤35. This observational study evaluates the clinical characteristics of patients <35 years with STEMI between January 2004 and September 2016 in 3 different centers. We gathered data and follow-up from the prospective database of the interventional cardiology department, medical history, and phone interviews. Over a total of 3,883 STEMI, we retrieved 61 patients ≤35. They were mainly male (88%), smokers (80%), and overweight (67%). Twenty-six percent were drug consumers. Only 2 patients (3%) were free of conventional risk factors. In-hospital mortality was 5% (3 deaths). They were followed-up for 5.9 ± 4.2 years with a total survival of 96.6% (2 deaths). Major adverse cardiovascular events incidence at the end of follow-up was only 17.2% (10 patients). STEMI in the young is a rare condition. These patients have several modifiable predisposing factors, a low clinical risk profile, and excellent short- and long-term prognosis with state-of-the-art treatment.
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Electrocardiografía , Medición de Riesgo/métodos , Infarto del Miocardio con Elevación del ST/epidemiología , Adulto , Factores de Edad , Femenino , Estudios de Seguimiento , Mortalidad Hospitalaria/tendencias , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , España/epidemiología , Tasa de Supervivencia/tendencias , Factores de TiempoRESUMEN
BACKGROUND: The aim of the study was to create a straightforward method to rule out abnormalities in electrocardiograms (ECGs) performed in patients with pacemakers. METHODS: The TBC method screens the ECG for any of the following findings: Tachycardia with pacing spikes, Bradycardia without spikes and Chaos with spikes unrelated to QRS-T complexes. T was considered to advise for patient assessment and B and C to require referral for urgent pacemaker evaluation. The diagnostic accuracy of the algorithm was validated using a cohort of 151 ECGs with normal and dysfunctional pacemakers. The effect of the algorithm was then evaluated for diagnostic skills and management of patients with pacemakers by non-cardiologists, comparing their diagnostic accuracy before and after teaching the algorithm. RESULTS: The TBC algorithm had a sensitivity of 86% and a specificity of 94% in diagnosing a malfunctioning pacemaker. The diagnostic skills and patient referral were significantly improved (74.8% vs. 89.5%, p < 0.001; and 57.4% vs. 83%, p < 0.001). CONCLUSIONS: TBC is an easy to remember and apply method to rule out severe abnormalities in ECGs of patients with pacemakers. TBC algorithm has a very good diagnostic capability and is easily applied by non-expert physicians with good results.
RESUMEN
No disponible
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Humanos , Femenino , Síndrome del Seno Enfermo/diagnóstico por imagen , Algoritmos , Marcapaso Artificial , Taquicardia Paroxística/diagnóstico por imagen , Taquicardia Paroxística/complicaciones , Acelerometría/métodosRESUMEN
No disponible
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Humanos , Femenino , Anciano de 80 o más Años , Electrocardiografía/métodos , Frecuencia Cardíaca/efectos de la radiación , Presión Arterial/efectos de la radiación , Estimulación Cardíaca Artificial/métodos , Cardiopatías/complicaciones , Cardiopatías/diagnóstico por imagenRESUMEN
No disponible
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Humanos , Fibrilación Atrial/diagnóstico , Electrocardiografía , Marcapaso ArtificialRESUMEN
No disponible
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Humanos , Masculino , Anciano de 80 o más Años , Electrocardiografía , Insuficiencia Cardíaca/complicaciones , Taquicardia/diagnóstico , Fibrilación Atrial/diagnósticoRESUMEN
No disponible