Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 11 de 11
Filtrar
1.
Prenat Diagn ; 44(3): 343-351, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38285371

RESUMEN

OBJECTIVE: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L. METHODS: We solicited cases from the Fetal Sequencing Consortium, screened a population-based genomic database, and conducted a comprehensive literature search to identify disease cases associated with GREB1L. We present a detailed phenotypic spectrum and molecular changes. RESULTS: One hundred twenty-seven individuals with 51 unique pathogenic or likely pathogenic GREB1L variants were identified. 24 (47%) variants were associated with isolated kidney anomalies, 19 (37%) with anomalies of multiple systems, including one case of hypoplastic left heart syndrome, five (10%) with isolated sensorineural hearing loss, two (4%) with isolated uterine agenesis; and one (2%) with isolated tetralogy of Fallot. CONCLUSION: GREB1L may cause complex congenital heart disease (CHD) in humans. Clinicians should consider GREB1L testing in the setting of CHD, and cardiac screening in the setting of GREB1L variants.


Asunto(s)
Cardiopatías Congénitas , Enfermedades Renales , Anomalías Urogenitales , Femenino , Humanos , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Riñón/anomalías , Enfermedades Renales/congénito , Proteínas de Neoplasias/genética , Anomalías Urogenitales/genética
3.
Arch Pediatr Adolesc Med ; 162(9): 882-5, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18762608

RESUMEN

OBJECTIVE: To investigate the incidence of aortic root dilatation in pectus excavatum. DESIGN: Retrospective medical record review and echocardiographic reanalysis. SETTING: Morgan Stanley Children's Hospital of New York-Presbyterian. PARTICIPANTS: Surgical candidates with pectus excavatum (n = 37) and age-matched controls (n = 44) referred for an echocardiogram from 1994 to 2002. INTERVENTIONS: Two-dimensional and color Doppler transthoracic echocardiograms. OUTCOME MEASURES: The aortic annulus and root were measured and z scores were calculated and compared. Medical records were reviewed for genetic evaluation. RESULTS: Patients with pectus excavatum and age-matched controls were reanalyzed. There was no difference in age, weight, height, or body surface area between patients and controls. There were no differences in the mean aortic annulus diameter, mean aortic annulus z score, or mean aortic root measurements. However, the aortic root z score was significantly higher in the pectus excavatum group compared with the controls: 0.9 (SD, 1.06) vs 0.0 (SD, 1.25) (P = .001). There were more patients with an aortic root z score of 2 or greater in the pectus excavatum group (9 of 37 patients) than in the control group (0 of 43 controls), with a calculated odds ratio of 29.7 (95% confidence interval, 1.10-1.59). Genetic evaluation was performed in 5 patients with a pectus excavatum and dilated aortic root; 2 of them received diagnoses of Marfan syndrome. CONCLUSIONS: Aortic root dilatation is more common in patients with pectus excavatum than in a control population. Echocardiographic screening may be useful in the identification of aortic root dilatation in patients with isolated pectus excavatum.


Asunto(s)
Aorta Torácica/diagnóstico por imagen , Tórax en Embudo/diagnóstico por imagen , Síndrome de Marfan/diagnóstico por imagen , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Niño , Dilatación Patológica , Ecocardiografía , Femenino , Humanos , Masculino , Estudios Retrospectivos
4.
Am J Cardiol ; 99(11): 1588-92, 2007 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-17531586

RESUMEN

The natural history of aortic cuspal prolapse and aortic regurgitation (AR), studied most commonly in subpulmonic ventricular septal defect (VSD), has not been well defined in isolated, unrepaired VSD diagnosed during infancy. This study aimed to define the incidence and progression of aortic cuspal prolapse and AR in patients with subaortic VSDs diagnosed at <1 year of age who had no aortic cuspal prolapse or AR at presentation and did not require surgery within the first year of life. Patients had yearly follow-up, and data regarding clinical course, physical examination, and echocardiography were obtained. Comparisons were made between patients who developed aortic cuspal prolapse and AR and those who did not. One hundred patients, with a mean age at VSD diagnosis of 0.1 +/- 0.5 years, followed for a mean of 7.1 +/- 10.1 years, were studied. Aortic cuspal prolapse developed in 14 patients (14%) at a mean age of 7.1 +/- 6 years (range 0.4 to 18.4). AR murmurs were heard in 6 patients (6%) at a mean age of 5.1 +/- 3.1 years, all of whom had aortic cuspal prolapse and underwent VSD closure and aortic valvuloplasty. In conclusion, aortic cuspal prolapse and clinical AR are not uncommon in patients with subaortic VSDs. Long-term follow-up of patients with subaortic VSDs should include the serial evaluation of aortic valve anatomy and function.


Asunto(s)
Insuficiencia de la Válvula Aórtica/etiología , Prolapso de la Válvula Aórtica/etiología , Defectos del Tabique Interventricular/complicaciones , Insuficiencia de la Válvula Aórtica/diagnóstico por imagen , Insuficiencia de la Válvula Aórtica/epidemiología , Insuficiencia de la Válvula Aórtica/cirugía , Prolapso de la Válvula Aórtica/diagnóstico por imagen , Prolapso de la Válvula Aórtica/epidemiología , Prolapso de la Válvula Aórtica/cirugía , Cateterismo Cardíaco , Progresión de la Enfermedad , Ecocardiografía Doppler en Color , Femenino , Estudios de Seguimiento , Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/epidemiología , Defectos del Tabique Interventricular/cirugía , Implantación de Prótesis de Válvulas Cardíacas , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , New York/epidemiología , Índice de Severidad de la Enfermedad
5.
Am J Perinatol ; 23(4): 241-5, 2006 May.
Artículo en Inglés | MEDLINE | ID: mdl-16625498

RESUMEN

The purpose of this study was to determine whether continuing experience in prenatal diagnosis of conotruncal malformations (CTMs) has resulted in improved diagnostic accuracy and outcome. Previous reports have demonstrated particular difficulty with ascertainment of the spatial relationship of the great arteries in patients with CTM. The prognosis for fetuses with CTM was poor. Medical records of 113 consecutive fetuses in whom a CTM (tetralogy of Fallot [TOF], double-outlet right ventricle [DORV], type B aortic arch interruption, transposition of the great arteries [TGA], and persistent truncus arteriosus [TA]) was diagnosed antenatally between 1994 and 2003 were reviewed. The diagnosis of the 91 fetuses with CTM included TOF (n = 32), TGA (n = 29), DORV (n = 22), and TA (n = 8). The great arterial spatial relationship was diagnosed accurately in 84 of the 91 (92%) live-born infants. In the other seven infants with DORV, the great arterial spatial relationship was identified inaccurately. The overall survival to 30 days was 85 of 91 (93%). Twenty-three of 91 (25%) patients had extracardiac anomalies. Genetic diagnosis (amniocentesis) was obtained in 63 of 94 patients; 11 (17%) had chromosomal abnormalities. Maternal glucose tolerance results were obtained in 65 of the 91 patients and were abnormal in 25 of 65 (38%). Prenatal diagnostic accuracy of conotruncal malformations is excellent; the arterial spatial relationship of DORV remains problematic. The populations of fetuses with CTMs who continue to develop to term have an excellent prognosis.


Asunto(s)
Aberraciones Cromosómicas , Ecocardiografía/normas , Cardiopatías Congénitas/diagnóstico por imagen , Resultado del Embarazo , Ultrasonografía Prenatal/normas , Glucemia/metabolismo , Femenino , Humanos , Embarazo , Complicaciones del Embarazo/metabolismo , Pronóstico , Reproducibilidad de los Resultados , Estudios Retrospectivos , Tetralogía de Fallot/diagnóstico por imagen , Transposición de los Grandes Vasos/diagnóstico por imagen , Tronco Arterial Persistente/diagnóstico por imagen
6.
Circulation ; 112(9 Suppl): I390-5, 2005 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-16159852

RESUMEN

BACKGROUND: The Ross procedure is commonly used to treat aortic valve disease in pediatric and adult patients. For infants, data are limited regarding survival, reintervention, autograft growth, and function. METHODS AND RESULTS: The Ross procedure was performed in 27 infants <18 months of age (median age 5.7 months). All patients had congenital aortic stenosis (AS); associated lesions included subAS (n=9), supravalvular AS (n=2), coarctation (n=5), and interrupted aortic arch (n=2). Median follow-up was 6.1 years (range 0.2 to 12.9). There were 3 early deaths and no late deaths. Freedom from reintervention for homograft dysfunction was 87% at 8 years; freedom from autograft reintervention was 100%. Follow-up echocardiograms were available in 17 patients. Estimated peak autograft gradient was 55 mm Hg in one patient and <10 mm Hg in 16. Mild autograft insufficiency was seen in 4 patients; 13 had none. Autograft diameter was measured early postoperatively and at latest follow-up. The mean z score increased from 0.63 to 3.2 (P<0.01) at the annulus and from 0.26 to 2.2 (P<0.01) at the sinus. In a subgroup, the mean autograft z score increased significantly from the postoperative period to 1 year for both the annulus (0.72 to 3.2, P<0.01) and the sinus (0.26 to 2.2, P<0.01), but remained unchanged thereafter. CONCLUSIONS: The Ross procedure effectively relieves AS in infants. Homograft reintervention occurred in 13% within 8 years. No patient developed significant autograft insufficiency or required autograft reintervention during the follow-up period. Dilatation of the autograft occurred during the first year after surgery and stabilized thereafter.


Asunto(s)
Válvula Aórtica/cirugía , Implantación de Prótesis de Válvulas Cardíacas/métodos , Válvula Pulmonar/trasplante , Válvula Aórtica/diagnóstico por imagen , Supervivencia sin Enfermedad , Femenino , Estudios de Seguimiento , Ventrículos Cardíacos/patología , Humanos , Lactante , Tablas de Vida , Masculino , Tamaño de los Órganos , Complicaciones Posoperatorias/epidemiología , Sistema de Registros/estadística & datos numéricos , Reoperación , Estudios Retrospectivos , Factores de Riesgo , Seno Aórtico/diagnóstico por imagen , Análisis de Supervivencia , Factores de Tiempo , Trasplante Autólogo , Trasplante Heterotópico , Resultado del Tratamiento , Ultrasonografía , Remodelación Ventricular
7.
J Thorac Cardiovasc Surg ; 130(2): 282-6, 2005 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16077388

RESUMEN

OBJECTIVE: The purpose of this study was to evaluate the outcome and risk factors for implant failure in pediatric patients who underwent pulmonary position homograft placement for right ventricular outflow tract obstruction compared with conduit placement as a component of the Ross operation. Actuarial 5-year survivals for cryopreserved right ventricle-to-pulmonary artery homografts range from 55% to 94% at all ages. It is not known whether there is a difference in homograft durability when utilized for right ventricular outflow tract obstruction or as part of the Ross operation. METHODS: The records of all pediatric patients receiving a right ventricle-to-pulmonary artery homograft from July 1989 through October 2003 were reviewed. Ninety-eight consecutive patients were studied (26 Ross, 72 non-Ross). In addition to Ross versus non-Ross comparisons, other potential risk factors for homograft failure analyzed included age at operation, follow-up time, type of surgery, and homograft type and size. RESULTS: Ross and non-Ross patients were comparable in age at the time of the operation and follow-up time. Homograft failure rates were 12% and 51% for Ross and non-Ross patients, respectively. Freedom from reintervention was 93% in the Ross and 66% in the non-Ross group at 5 years (P = .019). On multivariate analysis, non-Ross operation and age less than 2 years were significant predictors of homograft failure. CONCLUSIONS: 1. Pediatric patients undergoing the Ross operation have longer homograft survival than pediatric patients treated for right ventricular outflow tract obstruction, independent of age. 2. Homografts placed in patients less than 2 years of age have shorter homograft survival.


Asunto(s)
Implantación de Prótesis Vascular/efectos adversos , Oclusión de Injerto Vascular/etiología , Supervivencia de Injerto , Obstrucción del Flujo Ventricular Externo/cirugía , Prótesis Vascular , Implantación de Prótesis Vascular/instrumentación , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Falla de Prótesis , Factores de Riesgo , Resultado del Tratamiento
8.
Anesth Analg ; 98(2): 334-335, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-14742365

RESUMEN

UNLABELLED: A 34-mo-old boy with neurofibromatosis, scoliosis, and pectus excavatum developed severe hypotension when positioned prone. A magnetic resonance image study revealed neurofibromas encircling the great vessels. During the next anesthetic the patient was placed in the prone position on transverse bolsters and hypotension ensued again. A transesophageal echocardiogram (TEE) revealed compression of the right ventricle by the sternum. When the child was turned supine, the blood pressure returned to baseline. The patient was returned to the prone position, this time with bolsters placed longitudinally, without problem. This case supports a cardiac evaluation, possible intraoperative TEE, and avoidance of sternal pressure in patients with chest wall deformities requiring prone positioning. IMPLICATIONS: A child with neurofibromatosis, scoliosis, and a chest wall deformity presenting for spinal fusion developed severe hypotension while prone. This was due to compression of the heart by the sternum, not compression of the great vessels by neurofibromas. Sternal pressure in prone patients with chest wall deformities should be avoided. Unique management included the use of transesophageal echocardiography to determine the cause of the hypotension.


Asunto(s)
Tórax en Embudo/cirugía , Hipotensión/fisiopatología , Complicaciones Intraoperatorias/fisiopatología , Neurofibromatosis/cirugía , Posición Prona/fisiología , Escoliosis/cirugía , Fusión Vertebral , Adulto , Anestesia General , Ecocardiografía Transesofágica , Humanos , Hipotensión/etiología , Imagen por Resonancia Magnética , Masculino
9.
Cardiol Young ; 14(4): 456-9, 2004 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-15680057

RESUMEN

We present the eighth published case of divided left atrium co-existing with tetralogy of Fallot. This is the first report of preoperative echocardiographic diagnosis of this unusual combination of defects. Demonstration of a partition within the left atrium is imperative for successful repair of the combined lesions. We draw attention to the need for careful echocardiography in patients where an obstruction to pulmonary venous drainage would dramatically affect the outcome subsequent to surgical correction.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/cirugía , Corazón Triatrial/diagnóstico por imagen , Corazón Triatrial/cirugía , Tetralogía de Fallot/diagnóstico por imagen , Tetralogía de Fallot/cirugía , Procedimientos Quirúrgicos Cardíacos/métodos , Ecocardiografía Doppler , Estudios de Seguimiento , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Humanos , Lactante , Masculino , Cuidados Preoperatorios/métodos , Medición de Riesgo , Sensibilidad y Especificidad , Resultado del Tratamiento
10.
J Thorac Cardiovasc Surg ; 124(3): 442-7, 2002 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-12202859

RESUMEN

BACKGROUND: Septation of a single ventricle into 2 functioning ventricles can provide an alternative to the Fontan operation. However, early experiences with septation reported unacceptable morbidity and mortality. The present study selected only those patients with large volume-overloaded hearts, 2 well-functioning atrioventricular valves, and an absence of severe outlet obstruction. Early and intermediate outcomes are evaluated. METHODS AND RESULTS: Between June 1990 and March 1999, 11 patients underwent septation in 1 or 2 stages. Diagnoses of the patients included double-inlet left ventricle in 9, double-inlet right ventricle in 1 patient, and indeterminate ventricle in 1 patient. Five had l-transposition and 3 had d-transposition of the great arteries. Six had septation as 1 stage, 5 as planned 2-stage operations (2/5 completed). The median age for septation in 1 stage was 2.1 years (range 4 months to 5.8 years); for 2 stages, the median age was 7.2 months (range 3 to 14 months). Median follow-up time was 2.3 years. Eight of 11 patients survived (73%), with 2 early deaths and 1 late death. Seven of the 8 survivors have undergone complete septation (5 as single stage, 2 as 2 stages). Complications included surgically induced complete atrioventricular block in 1 patient and significant residual ventricular septal defects in another. Qualitatively, left ventricular function by echocardiography is normal in all patients, whereas right ventricular function is mildly decreased in 1 patient. All patients are clinically well. CONCLUSION: The septation procedure for single ventricle hearts may be a reasonable alternative to the Fontan operation in selected patients.


Asunto(s)
Procedimiento de Fontan , Defectos del Tabique Interventricular/cirugía , Ventrículos Cardíacos/cirugía , Niño , Protección a la Infancia , Preescolar , Estudios de Seguimiento , Defectos del Tabique Interventricular/complicaciones , Defectos del Tabique Interventricular/mortalidad , Ventrículos Cardíacos/anomalías , Humanos , Lactante , Bienestar del Lactante , Tiempo de Internación , Mónaco , New York , Atención Perioperativa , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/mortalidad , Análisis de Supervivencia , Resultado del Tratamiento , Función Ventricular Izquierda/fisiología
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...