Estridor en bronquiolitis de evolución prolongada: un signo a estudiar

Presentamos el caso de un lactante de 2 meses con infección respiratoria baja de evolución tórpida asociada a un signo frecuente, como es el estridor, cuyo estudio permitió el diagnóstico de una patología que requiere un alto índice de sospecha y cuya evolución sin tratamiento puede dar lugar a accidentes gravesWe present the case of a two month-old infant with a torpid course lower airway infection associated with a common sign, such as stridor, which study let us diagnose a pathology which needs high clinical suspicion and whose course without treatment can lead to serious accident

Anillos vasculares y compresión traqueo-esofágica: 15 años de experiencia quirúrgica

ResumenIntroducción y objetivosLos anillos vasculares son anomalías poco comunes, en los que el enfoque diagnóstico y quirúrgico puede ser controvertido. El objetivo es revisar nuestros resultados quirúrgicos hospitalarios y en seguimiento.MétodosEstudio observacional descriptivo de pacientes con anillos vasculares intervenidos en nuestro hospital.ResultadosSe incluyó a 26 pacientes con una mediana de edad de 9 meses (rango: 1 mes-38 años). Los pacientes fueron clasificados en 3 grupos: arco aórtico derecho-ligamento ductal izquierdo (n=14), doble arco aórtico (n=9) y sling pulmonar (n=3). Un total de 3 casos fueron diagnosticados en el periodo prenatal (11,5%). En todos los casos el diagnóstico se realizó mediante tomografía computarizada (TC). Se observó divertículo de Kommerell en 11 pacientes (42,3%). Un 19,2% presentaron anomalías intracardiacas asociadas que requirieron cirugía.El abordaje quirúrgico principal fue la toracotomía izquierda con un 72,7%. Un 9,1% requirió cirugía traqueal. Un 13,6% preciso reintervención del anillo vascular.La necesidad de reintervención se asoció estadísticamente a ventilación mecánica previa, traqueomalacia y persistencia de síntomas respiratorios. No hubo mortalidad hospitalaria. La mortalidad en seguimiento ha sido 7,6%, debido a malformaciones mayores asociadas.ConclusionesEl principal método diagnóstico en nuestra serie es la TC.La broncoscopia antes y después del tratamiento quirúrgico permite evaluar el resultado de la técnica; en algunos casos ayuda a valorar la necesidad de realizar una pexia aórtica.La presencia de traqueomalacia y defectos estructurales en la vía aérea, junto con la asociación de cardiopatías congénitas severas, marcan el pronóstico en el seguimiento.AbstractIntroduction and objectivesVascular rings are rare anomalies where the diagnosis and surgical approach can be controversial. The goal of this article is to review our hospital surgical results and follow-up.MethodsDescriptive observational study of patients with vascular rings operated on in our hospital from the year 2000 to 2015.ResultsThe study included 26 patients with a median age of 9 months (range: 1 month - 38 years). Patients were classified into 3 groups: right aortic arch - left ductal ligament (n=14), double aortic arch (n=9), and pulmonary sling (n=3). Prenatal diagnosis was made in 3 cases (11.5%). In all cases the diagnosis was made by computed tomography (CT). Kommerell's diverticulum was observed in 11 patients (42.3%), and 19.2% showed intracardiac anomalies that required surgery.The main surgical approach was left thoracotomy with 72.7%. Tracheal surgery was required in 9.1% and 13.6% required re-operation of the vascular ring.The need for re-operation was associated with previous mechanical ventilation, tracheomalacia, and the persistence of respiratory symptoms. There was no hospital mortality. The late mortality was 7.6%, due to associated major malformations.ConclusionsThe reference method for the diagnosis of vascular ring is computed tomography.Bronchoscopy before and after surgical treatment allows the outcome of the technique to be assessed and, in some cases, helps to assess the need for aortopexy.Tracheomalacia and the presence of structural defects in the airway, along with the association of severe congenital heart disease, are factors that are associated with late mortality

Clinical findings and prognosis of Danon’s Disease. An analysis from the Spanish multicenter Danon Registry.

Introducción y objetivos: La enfermedad de Danon (ED) es una enfermedad poco frecuente producida por mutaciones en el gen LAMP2. Se considera una enfermedad multisistémica caracterizada por: miocardiopatía hipertrófica con preexcitación y gran hipertrofia, discapacidad intelectual, miopatía, presentación infantil y peor pronóstico en varones. Existen pocas series que permitan conocer las características clínicas y el pronóstico de la ED en detalle. Métodos Estudio retrospectivo basado en el análisis de los registros clínicos de los pacientes con ED seguidos en 10 hospitales españoles. Resultados Se incluyeron 28 pacientes (3220años, 79% mujeres). Los varones demostraron una elevada prevalencia de manifestaciones extracardiacas: miopatía (80%), trastornos del aprendizaje (83%) y alteraciones visuales (60%), siendo hallazgos infrecuentes en las mujeres (5%, 0% y 24%, respectivamente). Aunque la miocardiopatía hipertrófica era la cardiopatía más habitual (67%), el grosor máximo ventricular fue 157 mm y 12 pacientes (10 mujeres) se presentaron con miocardiopatía dilatada. Sólo 11 pacientes (46%) (4 hombres y 7 mujeres) mostraron preexcitación y en 16 (67%) la enfermedad debutó por encima de los 20 años. Tras una mediana de seguimiento de 4 años (P25-752-9), 4 varones (67%) y 9 mujeres (41%) fallecieron o requirieron un trasplante. Tanto la afectación cardiaca como los eventos adversos ocurrieron más tardíamente en mujeres (37±9 vs 23±16 y 38±21 vs 20±11 años, respectivamente). Conclusiones. Las características clínicas de la ED difieren substancialmente de lo tradicionalmente considerado. La edad de presentación de la ED es más tardía, no se expresa como una patología multisistémica en mujeres y la preexcitación es poco frecuente. Aunque las mujeres presentan mal pronóstico, los eventos adversos ocurren a una edad más avanzada.Background Danon's disease (DD) is a rare disease caused by mutations in the LAMP2 gene. It is considered a multisystemic disease characterized by: hypertrophic cardiomyopathy with preexcitation and ventricular hypertrophy, intellectual disability, myopathy, childhood presentation and worse prognosis in men. Available data regarding clinical characteristics and the prognosis of the DD are scarce. Methods Retrospective study based on the analysis of the clinical records of patients with ED from 10 Spanish hospitals. Results Twenty-eight patients were included (32±20 years, 79% women). Males showed a high prevalence of extracardiac manifestations: myopathy (80%), learning disorders (837%) and visual alterations (60%), which were uncommon findings in women (5%, 0% and 24%, respectively). Although hypertrophic cardiomyopathy was the most common form of heart disease (67%), maximum wall thickness was 15±7 mm and 12 patients (10 women) presented as dilated cardiomyopathy. Only 11 patients (467%) (4 men and 7 women) showed preexcitation and in 16 (67%) the disease started above 20 years-old. After a median follow-up of 4 years (P25-75: 2-9), 4 men (67%) and 9 women (41%) died or required a heart transplant. Both cardiac involvement and adverse events occurred later in women (37 ± 9 vs 23 ± 16 and 38± 21 vs 20 ± 11 years, respectively). Conclusions Clinical characteristics of DD differ substantially from what has been traditionally considered. ED usually presents at an increased age, is not a multisystemic disease in women and preexcitation is rare. Even though, women show also a poor prognosis, adverse events occur at a later age.pre-print518 K

Resultados del retrasplante cardiaco: subanálisis del Registro Español de Trasplante Cardiaco

[Abstract] Introduction and objectives: Heart retransplantation (ReHT) is controversial in the current era. The aim of this study was to describe and analyze the results of ReHT in Spain. Methods: We performed a retrospective cohort analysis from the Spanish Heart Transplant Registry from 1984 to 2018. Data were collected on donors, recipients, surgical procedure characteristics, immunosuppression, and survival. The main outcome was posttransplant all-cause mortality or need for ReHT. We studied differences in survival according to indication for ReHT, the time interval between transplants and era of ReHT. Results: A total of 7592 heart transplants (HT) and 173 (2.3%) ReHT were studied (median age, 52.0 and 55.0 years, respectively). Cardiac allograft vasculopathy was the most frequent indication for ReHT (42.2%) and 59 patients (80.8%) received ReHT >5 years after the initial transplant. Acute rejection and primary graft failure decreased as indications over the study period. Renal dysfunction, hypertension, need for mechanical ventilation or intra-aortic balloon pump and longer cold ischemia time were more frequent in ReHT. Median follow-up for ReHT was 5.8 years. ReHT had worse survival than HT (weighted HR, 1.43; 95%CI, 1.17-1.44; P<.001). The indication of acute rejection (HR, 2.49; 95%CI, 1.45-4.27; P<.001) was related to the worst outcome. ReHT beyond 5 years after initial HT portended similar results as primary HT (weighted HR, 1.14; 95%CI, 0.86-1.50; P<.001). Conclusions: ReHT was associated with higher mortality than HT, especially when indicated for acute rejection. ReHT beyond 5 years had a similar prognosis to primary HT.[Resumen] Introducción y objetivos. El retrasplante cardiaco (ReTC) representa un tema controvertido actualmente. Nuestro objetivo es describir y analizar los resultados del ReTC en España. Métodos. Análisis retrospectivo del Registro Español de Trasplante Cardiaco de 1984 a 2018. Se recogieron datos sobre donante, receptor, cirugía, inmunosupresión y supervivencia. La mortalidad por todas las causas o la necesidad de ReTC postrasplante fueron el objetivo principal. Se estudiaron diferencias en supervivencia según indicación, tiempo entre trasplantes y época del ReTC. Resultados. Se estudiaron en total 7.592 trasplantes cardiacos (TxC) y 173 (2,3%) ReTC (mediana de edad, 52,0 y 55,0 años respectivamente). La enfermedad vascular del injerto fue la indicación de ReTC más frecuente (42,2%) y 59 pacientes (80,8%) recibieron el ReTC más de 5 años después del trasplante inicial. El rechazo agudo y el fallo primario del injerto disminuyeron como indicaciones durante el periodo estudiado. La insuficiencia renal, la hipertensión, la necesidad de ventilación mecánica o balón intraaórtico y la mayor duración de la isquemia fría fueron más frecuentes en el ReTC. La mediana de seguimiento del ReTC fue 5,8 años. El ReTC tuvo peor supervivencia que el TxC (HR ponderado = 1,43; IC95%, 1,17-1,44; p < 0,001). El rechazo agudo (HR = 2,49; IC95%, 1,45-4,27; p < 0,001) se relacionó con el peor resultado. El ReTC más allá de 5 años del trasplante inicial presagia resultados similares a los del TxC primario (HR ponderado = 1,14; IC95%, 0,86-1,50; p < 0,001). Conclusiones. El ReTC se asoció con mayor mortalidad que el TxC, especialmente por rechazo agudo. El pronóstico del ReTC realizado más de 5 años después es similar al del TxC primario

Malignancy following heart transplantation: differences in incidence and prognosis between sexes – a multicenter cohort study

[Abstract] Male patients are at increased risk for developing malignancy postheart transplantation (HT); however, real incidence and prognosis in both genders remain unknown. The aim of this study was to assess differences in incidence and mortality related to malignancy between genders in a large cohort of HT patients. Incidence and mortality rates were calculated for all tumors, skin cancers (SCs), lymphoma, and nonskin solid cancers (NSSCs) as well as survival since first diagnosis of neoplasia. 5865 patients (81.6% male) were included. Total incidence rates for all tumors, SCs, and NSSCs were lower in females [all tumors: 25.7 vs. 44.8 per 1000 person‐years; rate ratio (RR) 0.68, (0.60–0.78), P < 0.001]. Mortality rates were also lower in females for all tumors [94.0 (77.3–114.3) vs. 129.6 (120.9–138.9) per 1000 person‐years; RR 0.76, (0.62–0.94), P = 0.01] and for NSSCs [125.0 (95.2–164.0) vs 234.7 (214.0–257.5) per 1000 person‐years; RR 0.60 (0.44–0.80), P = 0.001], albeit not for SCs or lymphoma. Female sex was associated with a better survival after diagnosis of malignancy [log‐rank p test = 0.0037; HR 0.74 (0.60–0.91), P = 0.004]. In conclusion, incidence of malignancies post‐HT is higher in males than in females, especially for SCs and NSSCs. Prognosis after cancer diagnosis is also worse in males

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

<p>Abstract</p> <p>Background</p> <p>Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date.</p> <p>Methods</p> <p>We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents.</p> <p>Results</p> <p>Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial <it>de novo </it>1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping.</p> <p>Conclusion</p> <p>The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</p

Bloqueo aurículo-ventricular-congénito: evolución a largo plazo y factores pronósticos adversos

Tesis doctoral inédita leida en la Universida Autónoma de Madrid, Facultad de Medicina. Departamento de Fecha de lectura: 20 de Noviembre de 199

Cianosis severa tras derivación cavopulmonar total, corregida mediante ligadura quirúrgica de las venas suprahepáticas

Se describe el caso de una paciente con diagnóstico de heterotaxia y drenaje independiente de las venas suprahepáticas en la aurícula venosa, que se sometió a una derivación cavopulmonar total extracardíaca, en la que se dejaron las venas suprahepáticas drenando en la aurícula a modo de fenestración. La aparición en el postoperatorio inmediato de cianosis progresiva indujo a pensar en una derivación de derecha a izquierda muy importante. La ligadura quirúrgica de las venas suprahepáticas resolvió la complicación de una manera efectiva, sin la aparición de signos de congestión hepática o hipertensión porta