RESUMEN
OBJECTIVES: We reviewed our institution's experience with fetal cardiac rhabdomyoma to document the clinical outcome and incidence of associated tuberous sclerosis complex (TSC) and compared our findings with those of patients diagnosed with cardiac rhabdomyoma after birth. STUDY DESIGN: We reviewed the medical records of all cases diagnosed prenatally and postnatally with cardiac rhabdomyoma between January 1990 and June 2002. RESULTS: Twenty fetuses with cardiac rhabdomyoma were diagnosed at 28.4+/-6.0 weeks' gestational age. Of 19 continued pregnancies, there was one spontaneous intrauterine death, and 18 were delivered at term. Although none had prenatal hemodynamic complications, after birth seven had cardiac symptoms requiring medical (n=4) or surgical intervention (n=3). On follow-up, 15 of 19 with available outcome had TSC (79%), including six with neurodevelopmental disease. Over the same period, 26 patients were diagnosed with cardiac rhabdomyoma postnatally. Most (77%) were referred for cardiac assessment after findings suggesting TSC. On follow-up, TSC was confirmed in 25 (96%), including 22 with neurodevelopmental disease. The incidence of cardiac symptoms and TSC was not statistically different between the prenatal and postnatal diagnosis groups. CONCLUSIONS: Cardiac rhabdomyomas are benign from the cardiovascular standpoint in most affected fetuses. As observed in postnatally diagnosed cardiac rhabdomyoma, TSC is diagnosed in most cases of fetal cardiac rhabdomyoma.
Asunto(s)
Neoplasias Cardíacas/diagnóstico , Diagnóstico Prenatal , Rabdomioma/diagnóstico , Esclerosis Tuberosa/diagnóstico , Encéfalo/diagnóstico por imagen , Niño , Discapacidades del Desarrollo/epidemiología , Ecoencefalografía , Femenino , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/epidemiología , Estudios de Seguimiento , Edad Gestacional , Neoplasias Cardíacas/diagnóstico por imagen , Neoplasias Cardíacas/epidemiología , Humanos , Embarazo , Resultado del Embarazo , Derivación y Consulta , Rabdomioma/diagnóstico por imagen , Rabdomioma/epidemiología , Esclerosis Tuberosa/epidemiologíaRESUMEN
BackgroundAlthough the prenatal diagnosis of most fetal structural heart defects and dysrhythmias has been described,there is a paucity of information about cardiomyopathies (CMs) in prenatal life.Methods and Results-To determine the pathogenic mechanisms, hemodynamic findings, and outcome of fetal CM, wereviewed the fetal echocardiograms and perinatal histories of 55 affected fetuses. Dilated CM was diagnosed in 22 cases,including 2 with congenital infections, 5 familial cases, 6 with endocardial fibroelastosis related to maternal anti-Ro/Laantibodies, and 9 idiopathic cases. Thirty-three had hypertrophic CM, 7 associated with maternal diabetes, 2 withNoonans syndrome, 2 with -thalassemia, 18 with twin-twin transfusion syndrome, 1 with familial hypertrophy, and3 with idiopathic hypertrophy. Systolic dysfunction was present in all cases of dilated CM and 15 cases of hypertrophicCM. Diastolic dysfunction was present in 19 of 30 fetuses with assessment of diastolic function parameters. Significantmitral or tricuspid valve regurgitation was seen in 32 cases. Eight fetuses were hydropic and 23 had signs of earlyhydrops. Seven pregnancies were terminated. Of 46 continued pregnancies with follow-up, 29 (63%) died perinatally.The presence of systolic dysfunction, diastolic dysfunction, and significant atrioventricular valve regurgitation wereidentified as risk factors for mortality. By multiple logistic regression, diastolic dysfunction was associated with an8-fold increased risk relative to the other parameters.ConclusionsFetal CM has a broad spectrum of intrinsic and extrinsic causes. A poor outcome is observed in manyaffected fetuses. Diastolic dysfunction in fetal CM is associated with the highest risk of mortality.