RESUMO
OBJECTIVE: We described a case of fetal cardiac rhabdomyoma complicated by hydrops. And we discussed our approach during pregnancy. CASE REPORT: A 23-year-old woman primigravida was referred at 29 weeks of gestation (WG) to prenatal unit for a large hyperechogenic intracardiac mass associated with fetal hydrops. An intrauterine peritoneo-amniotic shunt was placed. Complete regression of ascites and pericardial effusions were observed after 34 WG with drain in good position. CONCLUSION: Cardiac rhabdomyoma is the most common prenatal cardiac tumor. These tumors are benign, asymptomatic and spontaneously regress after birth. However, in some cases, these tumors may cause severe obstructions on the fetal heart and need specific treatment.
Assuntos
Drenagem/métodos , Doenças Fetais/terapia , Terapias Fetais/métodos , Neoplasias Cardíacas/embriologia , Hidropisia Fetal/terapia , Rabdomioma/embriologia , Ascite , Feminino , Doenças Fetais/diagnóstico , Coração Fetal/embriologia , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/terapia , Humanos , Hidropisia Fetal/diagnóstico , Gravidez , Rabdomioma/diagnóstico , Rabdomioma/terapia , Ultrassonografia Pré-Natal , Adulto JovemRESUMO
OBJECTIVE: The aim of this study is to review our institution's experience with fetal cardiac rhabdomyoma, and to document the prenatal genetic testing for tuberous sclerosis complex (TSC) and clinical outcome of the affected pregnancies. STUDY DESIGN: During a four-year period, patients with fetal cardiac rhabdomyoma were detected by echocardiography in the second trimester of pregnancy. Molecular genetic analysis was conducted on fetuses to screen for variants of TSC1/TSC2 genes. We reviewed medical records of these affected pregnancies, including maternal demographics, sonographic findings, genotyping results and pregnancy outcomes. RESULTS: Eleven cases with fetal cardiac rhabdomyoma were studied during the study period. A pathogenic variant of TSC1/TSC2 genes was detected in all cases, including two with an inherited variant and nine with a de novo variant. Out of these eleven cases diagnosed prenatally, eight pregnancies were terminated and three continued till term. CONCLUSIONS: Cardiac rhabdomyoma is the prenatal sign of TSC. A molecular investigation of TSC1/TSC2 genes should be recommended for fetuses with a rhabdomyoma and the parents, and the prognostic counselling should include TSC and its consequences.
Assuntos
Doenças Fetais/diagnóstico , Testes Genéticos/métodos , Neoplasias Cardíacas/diagnóstico , Diagnóstico Pré-Natal/métodos , Rabdomioma/diagnóstico , Adulto , Ecocardiografia/métodos , Feminino , Doenças Fetais/genética , Coração Fetal/diagnóstico por imagem , Coração Fetal/embriologia , Variação Genética/genética , Neoplasias Cardíacas/embriologia , Neoplasias Cardíacas/genética , Humanos , Gravidez , Resultado da Gravidez , Estudos Prospectivos , Rabdomioma/embriologia , Rabdomioma/genética , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genéticaRESUMO
OBJECTIVE: To review the pathophysiology of rhabdomyomas and the emerging option of prenatal treatment of fetal cardiac rhabdomyomas. METHODS: We present a case of fetal rhabdomyomas causing significant hemodynamic compromise that received in utero treatment of maternal sirolimus. Genetic amniocentesis confirmed a TSC2 mutation. A treatment program was initiated with a 10-mg loading dose titrated to a goal maternal trough of 10 to 15 ng/dL. In order to follow fetal cardiac function, a sophisticated method of speckle tracking echocardiography was used before and after treatment. Obstetric ultrasound was used to monitor fetal growth, and clinical surveillance, echocardiography, and brain MRI were used to monitor postnatal growth and development through 6 months of neonatal life. RESULTS: Sirolimus was initiated from 28 to 36 weeks of gestation with improvement of cardiac status. During this period, intrauterine growth restriction developed. Postnatally, the infant has had stable rhabdomyomas and cardiac function without reinitiating sirolimus. Brain MRI demonstrated scattered cortical tubers and subependymal nodules, and the infant has not had seizure-like activity. At 6 months of age, the infant has achieved appropriate developmental milestones. CONCLUSION: In counseling cases of prenatal onset large obstructing rhabdomyomas and cardiac compromise, in utero sirolimus treatment can be considered.
Assuntos
Neoplasias Cardíacas/tratamento farmacológico , Neoplasias Cardíacas/embriologia , Rabdomioma/tratamento farmacológico , Rabdomioma/embriologia , Sirolimo/administração & dosagem , Adulto , Amniocentese , Ecocardiografia , Feminino , Testes Genéticos , Idade Gestacional , Neoplasias Cardíacas/genética , Humanos , Mutação , Gravidez , Diagnóstico Pré-Natal , Rabdomioma/genética , Serina-Treonina Quinases TOR/antagonistas & inibidores , Resultado do Tratamento , Proteína 2 do Complexo Esclerose Tuberosa/genéticaAssuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/cirurgia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/cirurgia , Teratoma/diagnóstico por imagem , Teratoma/cirurgia , Tamponamento Cardíaco/etiologia , Ecocardiografia , Emergências , Feminino , Doenças Fetais/patologia , Idade Gestacional , Neoplasias Cardíacas/embriologia , Neoplasias Cardíacas/patologia , Humanos , Recém-Nascido , Pericárdio/diagnóstico por imagem , Pericárdio/patologia , Pericárdio/cirurgia , Derrame Pleural/diagnóstico por imagem , Derrame Pleural/embriologia , Derrame Pleural/cirurgia , Radiografia Torácica , Teratoma/embriologia , Teratoma/patologia , Resultado do TratamentoRESUMO
OBJECTIVES: The purpose of this systematic review is to provide a comprehensive overview on the clinical course, perinatal outcome, and effectiveness of prenatal management options for pericardial teratoma. METHODS: A comprehensive search including Ovid MEDLINE, Ovid EMBASE, and Scopus was conducted from inception to September 2016. All studies that reported the prenatal course of pericardial teratoma in singleton or twin gestations were considered eligible. Standardized forms were used for data abstraction by two independent reviewers. RESULTS: Out of 217 screened abstracts, 59 studies reporting 67 fetuses with pericardial teratoma were included. Twenty-three singleton fetuses and 3 fetuses in twin gestations underwent prenatal treatment, and 20 (76.9%) of them were hydropic at the time of intervention. Of those, 15/20 (75%) had a favorable outcome. In the non-intervention group (n = 41), 26 (63.4%) developed hydrops, and out of those, 8 (30.8%) had a favorable outcome. CONCLUSION: Prenatal fluid drainage and other prenatal techniques have been utilized in the treatment of intrapericardial teratoma. While most fetuses tolerated pericardiocentesis, the neonatal benefit of this procedure is still uncertain, and outcomes of other interventions had variable success. Prenatal intervention for pericardial teratoma may be an option in specialized units but, given the maternal and fetal risks, needs careful consideration. © 2017 John Wiley & Sons, Ltd.
Assuntos
Doenças Fetais/terapia , Neoplasias Cardíacas/embriologia , Pericárdio , Teratoma/embriologia , Doenças em Gêmeos/embriologia , Doenças em Gêmeos/terapia , Drenagem/efeitos adversos , Feminino , Coração Fetal , Humanos , Hidropisia Fetal/diagnóstico , MEDLINE , Masculino , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Fatores de Risco , Teratoma/terapiaRESUMO
Cardiac etiologies of hydrops fetalis have been a topic of concern due to challenging perinatal management. The common cardiac etiologies leading to hydrops fetalis include structural cardiac anomalies, cardiac dysrhythmias, cardiac tumors, cardiomyopathy and myocarditis. The mechanisms of cardiogenic hydrops fetalis may be: 1) elevation of atrial pressure and volume overload, 2) decrease of cardiac output, and 3) development of congestive heart failure. The diagnosis of hydrops fetalis was usually made at 19-36 gestational weeks, when ultrasound is a highly effective diagnostic method. Intrauterine interventions for certain congenital heart defects, maternal transplacental or direct fetal medications and fetal pacing placement for cardiac arrhythmias, and fetal or postnatal tumor resections are important progressions of etiologic treatment for hydrops fetalis. Treatment strategies for hydrops fetalis per se are usually ultrasound-guided pericardiocentesis and feto-amniotic shunting, whereas reaccumulation may require further interventions in utero or postnatally. Hydrops fetalis often carries a poor prognosis, and mortality remains high. Current developments in the management of hydrops fetalis should encourage physicians to attempt further fetal interventions.
Assuntos
Cardiopatias/embriologia , Hidropisia Fetal/etiologia , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/embriologia , Arritmias Cardíacas/terapia , Parto Obstétrico , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/terapia , Cardiopatias/diagnóstico , Cardiopatias/terapia , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/embriologia , Neoplasias Cardíacas/terapia , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/terapia , Recém-Nascido , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Diagnóstico Pré-NatalAssuntos
Coração Fetal/diagnóstico por imagem , Neoplasias Cardíacas/diagnóstico , Rabdomioma/diagnóstico , Ultrassonografia Pré-Natal/métodos , Ecocardiografia Doppler , Feminino , Neoplasias Cardíacas/embriologia , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Remissão Espontânea , Rabdomioma/embriologiaRESUMO
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by abnormal cell proliferation and tumor growth in a number of organ systems, primarily the brain, kidneys, eyes and heart. Clinical symptoms vary according to the location of the tumor. The most common disorders are seizures, neurodevelopmental disorders, renal failure and arrhythmias. TSC was found to be influenced by inhibitors of the protein kinase mammalian target of rapamycin (mTOR), which regulates abnormal cellular proliferation. mTOR inhibitors have been studied effectively in patients with subependymal giant-cell astrocytomas and renal angiolipomas in the context of TSC. We describe a prenatally diagnosed case of giant rhabdomyoma, due to right ventricular outflow tract obstruction, which presented as a duct-dependent lesion. Postnatal treatment with the mTOR inhibitor everolimus initiated significant regression of the cardiac tumor. This finding suggests that mTOR inhibitor therapy is an option for giant rhabdomyomas that develop in the neonatal period.
Assuntos
Antineoplásicos/administração & dosagem , Ecocardiografia Doppler , Everolimo/administração & dosagem , Neoplasias Cardíacas/patologia , Rabdomioma/patologia , Esclerose Tuberosa/patologia , Adulto , Relação Dose-Resposta a Droga , Feminino , Seguimentos , Neoplasias Cardíacas/tratamento farmacológico , Neoplasias Cardíacas/embriologia , Humanos , Recém-Nascido , Uso Off-Label , Gravidez , Diagnóstico Pré-Natal , Rabdomioma/tratamento farmacológico , Rabdomioma/embriologia , Resultado do Tratamento , Esclerose Tuberosa/tratamento farmacológico , Esclerose Tuberosa/embriologia , Carga Tumoral/efeitos dos fármacosRESUMO
An intrapericardial vacuolated mass compressing and displacing the heart was diagnosed by echocardiography in a foetus of 22 weeks gestation. The birth was induced for early signs of foetal distress at 29 weeks and, after two initial pericardial evacuation procedures, the tumour was resected radically 7 days after birth at a weight of 1.55 kg. Mass histology showed teratoma associated with yolk sac tumour. We comment on the overall approach adopted after foetal diagnosis and the histopathological features of the tumour, and try to draw conclusions on patient outcome data.
Assuntos
Ecocardiografia , Tumor do Seio Endodérmico/embriologia , Doenças Fetais/diagnóstico por imagem , Neoplasias Cardíacas/embriologia , Pericárdio/diagnóstico por imagem , Teratoma/embriologia , Ultrassonografia Pré-Natal/métodos , Diagnóstico Diferencial , Tumor do Seio Endodérmico/diagnóstico por imagem , Feminino , Neoplasias Cardíacas/diagnóstico por imagem , Humanos , Recém-Nascido , Pericárdio/embriologia , Gravidez , Teratoma/diagnóstico por imagemRESUMO
Fetal cardiac tumors are a rare finding in prenatal ultrasonography. Most of them are rhabdomyoma, which are thought to be pathognomonic for tuberous sclerosis complex. We present an infant with prenatally diagnosed cardiac rhabdomyoma (CR), who was found to suffer from Beckwith-Wiedemann syndrome (BWS). This congenital overgrowth syndrome is characterized by macrosomia, macroglossia, omphalocele, hypoglycemia, and hemihypertrophy. BWS patients have an increased risk for formation of benign and malignant tumors, typically intra-abdominally located, but, to the best of our knowledge, fetal CRs have not been reported before. BWS must be added to the list of differential diagnoses and to the prenatal counseling of the parents in cases of prenatal detection of CR.
Assuntos
Síndrome de Beckwith-Wiedemann/complicações , Doenças Fetais/diagnóstico por imagem , Coração Fetal/diagnóstico por imagem , Neoplasias Cardíacas/diagnóstico por imagem , Rabdomioma/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adolescente , Diagnóstico Diferencial , Feminino , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/embriologia , Humanos , Masculino , Gravidez , Rabdomioma/complicações , Rabdomioma/embriologiaAssuntos
Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/embriologia , Pericárdio/diagnóstico por imagem , Pericárdio/embriologia , Rabdomioma/diagnóstico por imagem , Rabdomioma/embriologia , Ultrassonografia Pré-Natal/métodos , Adulto , Diagnóstico Diferencial , Feminino , Humanos , GravidezRESUMO
Cardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients. We have analysed the long-term cardiac and neurological outcomes of patients with cardiac rhabdomyomas in order to allow comprehensive prenatal counselling, basing our findings on the records of all patients seen prenatally and postnatally with an echocardiographic diagnosis of cardiac rhabdomyoma encountered from August, 1982, to September, 2007. We analysed factors such as the number and the location of the tumours to establish their association with a diagnosis of tuberous sclerosis, predicting the cardiac and neurologic outcomes for the patients.Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock. Arrhythmias were encountered most often during the neonatal period, with supraventricular tachycardia being the commonest rhythm disturbance identified. No specific dimension or location of the cardiac rhabdomyomas predicted the disturbances of rhythm.The importance of the diagnosis of tuberous sclerosis is exemplified by the neurodevelopmental complications, with four-fifths of the patients showing epilepsy, and two-thirds having delayed development. The presence of multiple cardiac tumours suggested a higher risk of being affected by tuberous sclerosis. The tumours generally regress after birth, and cardiac-related problems are rare after the perinatal period. Tuberous sclerosis and the associated neurodevelopmental complications dominate the clinical picture, and should form an important aspect of the prenatal counselling of parents.
Assuntos
Deficiências do Desenvolvimento/etiologia , Aconselhamento Diretivo/métodos , Doenças Fetais/diagnóstico por imagem , Neoplasias Cardíacas/diagnóstico por imagem , Rabdomioma/diagnóstico por imagem , Ultrassonografia Pré-Natal , Criança , Estudos de Coortes , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Progressão da Doença , Ecocardiografia/métodos , Feminino , Seguimentos , Idade Gestacional , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/embriologia , Neoplasias Cardíacas/patologia , Humanos , Lactente , Recém-Nascido , Testes Neuropsicológicos , Gravidez , Cuidado Pré-Natal , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Rabdomioma/complicações , Rabdomioma/embriologia , Rabdomioma/patologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico por imagem , Esclerose Tuberosa/embriologia , Esclerose Tuberosa/patologiaRESUMO
We report the first case of foetal pericardial teratoma, treated successfully in utero by pericardio-amniotic shunting, and review the relevant literature. Foetal treatment improves survival in case of hydrops. Foetal pericardio-amniotic shunting could possibly be an alternative to serial pericardiocentesis.
Assuntos
Procedimentos Cirúrgicos Cardíacos , Cateterismo , Neoplasias Cardíacas/terapia , Teratoma/terapia , Adulto , Tamponamento Cardíaco/embriologia , Tamponamento Cardíaco/terapia , Cesárea , Feminino , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/embriologia , Humanos , Hidropisia Fetal/etiologia , Hidropisia Fetal/terapia , Recém-Nascido , Derrame Pericárdico/embriologia , Derrame Pericárdico/terapia , Pericardiocentese , Pericárdio/embriologia , Pericárdio/cirurgia , Gravidez , Esternotomia , Teratoma/diagnóstico por imagem , Teratoma/embriologia , Resultado do Tratamento , Ultrassonografia Doppler , Ultrassonografia Pré-NatalRESUMO
Rhabdomyoma is the most common primary cardiac tumor identified in utero and in infancy. Usually it has a benign course, which has prompted an expectant approach to its management. We report herein the cases of three patients who presented prenatally with cardiac rhabdomyomas. Only one of them had a benign course. The other two patients provided recognizable characteristics of rhabdomyomas with an unfavorable course and demonstrated that fetal rhabdomyomas can have a fatal outcome.
Assuntos
Neoplasias Cardíacas/diagnóstico , Diagnóstico Pré-Natal , Rabdomioma/diagnóstico , Adulto , Diagnóstico Diferencial , Evolução Fatal , Feminino , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/embriologia , Neoplasias Cardíacas/patologia , Humanos , Recém-Nascido , Gravidez , Terceiro Trimestre da Gravidez , Rabdomioma/diagnóstico por imagem , Rabdomioma/embriologia , Rabdomioma/patologia , UltrassonografiaRESUMO
A fetus presented with a large pericardial effusion caused by a right atrial transmural tumor. Correct prenatal diagnosis by use of targeted fetal echocardiography indicated that treatment was not required until the gestational age of 36 weeks. At that time, cesarean section was performed because early signs of imminent cardiac tamponade developed ("swinging heart"). At birth, the pericardial effusion was drained with a percutaneous drain. Elective surgical resection was performed on day 6 of life. Histologically, the tumor was a benign capillary hemangioma.
Assuntos
Tamponamento Cardíaco/etiologia , Doenças Fetais , Átrios do Coração , Neoplasias Cardíacas/complicações , Hemangioma/complicações , Adulto , Procedimentos Cirúrgicos Cardíacos , Tamponamento Cardíaco/diagnóstico , Tamponamento Cardíaco/cirurgia , Diagnóstico Diferencial , Ecocardiografia , Feminino , Seguimentos , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/embriologia , Hemangioma/diagnóstico , Hemangioma/embriologia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Gravidez , Ultrassonografia Pré-NatalRESUMO
We describe the clinical course and autopsy findings of a female fetus with hydrops fetalis due to a huge pericardial rhabdomyoma. Fetal echocardiography at 21 weeks gestation demonstrated a huge tumor in the left ventricle. The fetus died of hydrops fetalis due to cardiac dysfunction at 24 weeks gestation. Autopsy demonstrated that the tumor protruded from the epicardial region of the apex into the pericardial cavity and induced a hypoplastic left ventricle and lung. Microscopically, the cardiac tumor showed characteristics of rhabdomyoma. This localization of cardiac rhabdomyoma is rare, but we remain aware of the possibility of an unusual and rapid progression of cardiac rhabdomyoma.
Assuntos
Coração Fetal/anormalidades , Neoplasias Cardíacas/diagnóstico por imagem , Pulmão/anormalidades , Rabdomioma/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Adulto , Autopsia , Biópsia por Agulha , Ecocardiografia/métodos , Feminino , Morte Fetal , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/patologia , Idade Gestacional , Neoplasias Cardíacas/embriologia , Neoplasias Cardíacas/patologia , Ventrículos do Coração/anormalidades , Humanos , Imuno-Histoquímica , Idade Materna , Pericárdio/patologia , Gravidez , Rabdomioma/embriologia , Rabdomioma/patologia , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the first year of life. Cardiac rhabdomyomas are frequently associated with tuberous sclerorosis. CASE: A 25-year-old, pregnant woman with no remarkable personal or family history was referred to us for a suspected fetal cardiac anomaly. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. Postnatal echocardiography confirmed the presence of cardiac rhabdomyoma, and periventricular subependymal multiple hamartomas were diagnosed by postnatal magnetic resonance imaging. CONCLUSION: When fetal cardiac rhabdomyoma is diagnosed, careful evaluation of other fetal structures, including brain and renal parenchyma, should be performed to search for signs of tuberous sclerosis.
Assuntos
Doenças Fetais/diagnóstico por imagem , Neoplasias Cardíacas/diagnóstico por imagem , Rabdomioma/diagnóstico por imagem , Esclerose Tuberosa/diagnóstico por imagem , Adulto , Feminino , Doenças Fetais/fisiopatologia , Hamartoma/diagnóstico , Hamartoma/embriologia , Neoplasias Cardíacas/embriologia , Neoplasias Cardíacas/fisiopatologia , Septos Cardíacos , Ventrículos do Coração , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Gravidez , Resultado da Gravidez , Rabdomioma/embriologia , Rabdomioma/fisiopatologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/embriologia , Ultrassonografia Pré-NatalAssuntos
Neoplasias Cardíacas/diagnóstico , Rabdomioma/diagnóstico , Esclerose Tuberosa/diagnóstico , Adulto , Diagnóstico Diferencial , Ecocardiografia , Feminino , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/embriologia , Humanos , Recém-Nascido , Masculino , Gravidez , Terceiro Trimestre da Gravidez , Rabdomioma/diagnóstico por imagem , Rabdomioma/embriologia , Esclerose Tuberosa/diagnóstico por imagem , Esclerose Tuberosa/embriologia , Ultrassonografia Pré-NatalAssuntos
Neoplasias Cardíacas/diagnóstico , Rabdomioma/diagnóstico , Esclerose Tuberosa/diagnóstico , Ultrassonografia Pré-Natal , Adulto , Diagnóstico Diferencial , Feminino , Duplicação Gênica , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/embriologia , Neoplasias Cardíacas/genética , Humanos , Recém-Nascido , Masculino , Linhagem , Gravidez , Rabdomioma/diagnóstico por imagem , Rabdomioma/embriologia , Rabdomioma/genética , Esclerose Tuberosa/diagnóstico por imagem , Esclerose Tuberosa/embriologia , Esclerose Tuberosa/genéticaRESUMO
Tuberous sclerosis complex (TSC) is an autosomal-dominant phakomatosis that can result in cardiac and central nervous system lesions and may adversely impact fetal and maternal health. We report a case of a 19-year-old primagravida with TSC whose pregnancy was complicated by preeclampsia, preterm labor, and fetal demise. The fetus, also affected with TSC, was diagnosed with a cardiac rhabdomyoma on ultrasound at 24 gestational weeks and intracranial tubers on fetal magnetic resonance imaging at 26 gestational weeks. Hydrops fetalis developed in the 30th gestational week. Fetal demise occurred during induction of labor. A systematic review of the medical literature was conducted. Our objective was to quantify maternal and fetal morbidity and mortality associated with TSC. We identified 36 additional cases of fetal TSC with cardiac rhabdomyoma diagnosed prenatally. Including our case, we also identified 23 pregnancies (17 mothers) complicated by maternal TSC. Rates of complications are calculated. We conclude that pregnancies complicated by maternal or fetal TSC deserve careful vigilance. Although benign histologically, cardiac rhabdomyomas can result in fetal morbidity and mortality.