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2.
J Pediatr ; 162(5): 964-9.e1, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23219450

RESUMO

OBJECTIVES: To evaluate the role of histology in diagnosis and management of biologically benign heart tumors causing life-threatening symptoms and even death in children and fetuses. The clinical impact of a multidisciplinary approach including 2-D echocardiography, histology, genetics, and cardiac surgery has not yet been fully elucidated. STUDY DESIGN: Forty-one consecutive antenatal (n = 17) or postnatal (n = 24) detected cardiac masses were evaluated by 2-D echocardiography (in alive patients) or at autopsy, and 12/41 cases with definite histologic diagnosis of primary and benign cardiac tumor were entered in this study. RESULTS: Rhabdomyomas (n = 6), hemangiomas (n = 3), central fibrous body chondroma (n = 1), fibroma (n = 1), or left atrial myxoma (n = 1) were histologically diagnosed in 4 fetuses and in 8 children. Death occurred in 6 patients showing diffuse or infiltrative tumors, 2/6 experiencing intrauterine death or sudden and unexpected infant death. Seven patients underwent surgery, 4/7 are alive and well at >5 years follow-up, whereas 3 deaths followed partial tumor resection. Two fetuses with extensive tumor/s were aborted. Tuberous sclerosis complex gene mutations were seen in patients with rhabdomyomas. CONCLUSIONS: Histology represents the best diagnostic approach in life-threatening pediatric cardiac tumors allowing definite diagnosis in cases other than rhabdomyoma and in sudden deaths, influencing clinical management and counselling. 2-D echocardiography remains the main tool for early clinical diagnosis and follow-up. A multidisciplinary approach is advisable because of rarity, difficult management, and possible associations with inheritable diseases.


Assuntos
Feto/patologia , Neoplasias Cardíacas/patologia , Ecocardiografia , Feminino , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/mortalidade , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Prognóstico , Ultrassonografia Pré-Natal
5.
Cardiol Young ; 14(3): 265-76, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15680020

RESUMO

Congenitally corrected transposition is a rare congenital anomaly, with only a few cases diagnosed and reported prenatally even in the largest fetal series. To determine the morphologic features and outcome for the lesion as recognized during fetal life, we reviewed the fetal and postnatal echocardiograms and medical records of 11 consecutive cases of congenitally corrected transposition. These were identified among 230 (4.7%) consecutive cases of structural cardiac disease referred to our fetal cardiology unit over a period of 4 years. The mean gestational age at diagnosis was 24.7 weeks. Reasons for referral were suspected complete transposition, abnormal position of the heart, and bradyarrhythmias. Associated cardiac lesions included an abnormal cardiac position in 6 cases, ventricular septal defect in 8, obstruction of the subpulmonary outflow tract in 6, tricuspid valvar displacement in 5, and complete atrioventricular block in 2. Only 3 of the cases had mild tricuspid regurgitation prior to birth. Termination was chosen in 4 cases with severe obstruction to pulmonary flow. Of the remaining cases, 2 patients died at 3 and 12 months after birth, respectively. Both developed significant tricuspid regurgitation associated with unexpected major arrhythmias. The remaining 5 patients are alive and relatively well at a mean follow-up of 25.4 months. An epicardial pacemaker was inserted in 1 because of complete atrioventricular block. We conclude that prenatal counseling must be guarded following the diagnosis of congenitally corrected transposition, even in fetuses with an apparently favorable state at initial examination. Some of these cases may undergo major and unexpected changes, particularly with regard to cardiac rhythm and tricuspid valvar function, with concomitant significant changes in prognosis.


Assuntos
Ecocardiografia , Transposição dos Grandes Vasos/diagnóstico por imagem , Ultrassonografia Pré-Natal , Aborto Induzido , Arritmias Cardíacas/epidemiologia , Feminino , Coração Fetal/diagnóstico por imagem , Seguimentos , Idade Gestacional , Comunicação Interventricular/diagnóstico por imagem , Comunicação Interventricular/epidemiologia , Humanos , Recém-Nascido , Gravidez , Prevalência , Transposição dos Grandes Vasos/epidemiologia , Insuficiência da Valva Tricúspide/diagnóstico por imagem , Insuficiência da Valva Tricúspide/epidemiologia
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