Your browser doesn't support javascript.
Show: 20 | 50 | 100
Results 1 - 20 de 64
Rev. méd. Maule ; 37(1): 67-74, jun. 2022. ilus
Article in Spanish | LILACS | ID: biblio-1397649


Cardiac myxomas are the most common benign primary tumors and are most often located in the left atrium at the level of the interatrial septum, with the characteristic of being pedunculated and highly mobile, which is why they sometimes interfere with the functioning of the mitral valve, generating variable degrees of stenosis and mitral insufficiency. Diagnosis is by echocardiography and treatment is surgical resection. We present the case of a patient with a large atrial myxoma and severe double mitral lesion.

Humans , Female , Aged , Heart Neoplasms/diagnostic imaging , Myxoma/diagnosis , Echocardiography, Transesophageal , Diagnosis, Differential , Heart Atria/pathology , Heart Atria/diagnostic imaging , Heart Neoplasms/surgery , Myxoma/surgery , Myxoma/classification , Myxoma/physiopathology
Rev. urug. cardiol ; 37(1): e703, jun. 2022. ilus
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1415381


Las neoplasias cardíacas se dividen en tumores primarios y secundarios; estos últimos son 30 veces más frecuentes. La mayoría de las neoplasias cardíacas son benignas y dentro de este grupo destaca el mixoma auricular. La presentación clínica es muy variable en relación con su ubicación, tamaño y movilidad, y los hallazgos a nivel de las pruebas complementarias son inespecíficos. Dado que su historia natural muchas veces pasa inadvertida, el mixoma puede culminar en la obstrucción auriculoventricular, obstrucción del tracto de salida ventricular o incluso embolias sistémicas; de esta forma, es el causante de sintomatología severa como síncope, insuficiencia cardíaca y muerte súbita cardíaca. Su manifestación clínica como un síncope es bastante frecuente. Se expone el caso de un paciente de sexo masculino de 81 años que consultó en el servicio de urgencias por un síncope. Durante su valoración, se identificó el mixoma auricular como etiología de este.

Cardiac neoplasms are divided into primary and secondary tumors, the latter are 30 times more frequent. Most are benign and within this group the atrial myxoma stands out. The clinical presentation is very variable in relation to its location, size and mobility, and the findings in the complementary tests are nonspecific. Since its natural history often goes unnoticed, the myxoma can culminate in atrial ventricular obstruction, ventricular outflow tract obstruction or even systemic embolism, causing severe symptoms such as syncope, heart failure and sudden cardiac death. Its clinical manifestation as syncope is quite common. The case of an 81-year-old male patient who consulted at the emergency department for syncope is presented, in which the atrial myxoma was subsequently identified as the etiology of the event during the further evaluation.

As neoplasias cardíacas dividem-se em tumores primários e secundários, estes últimos são 30 vezes mais frequentes. A maioria são benignas e dentro deste grupo destaca-se o mixoma auricular. A apresentação clínica é muito variável em relação com sua localização, tamanho e mobilidade, e os achados a nível dos testes complementares são inespecíficos. Dado que a sua história natural muitas vezes passa despercebida, o mixoma pode culminar na obstrução aurículo-ventricular, obstrução do tracto de saída ventricular ou mesmo embolias sistémicas, sendo assim o causador de sintomatologia severa como síncope, insuficiência cardíaca e morte súbita cardíaca. Sua manifestação clínica como síncope é bastante comum. Apresenta-se o caso de um paciente de sexo masculino de 81 anos que consultou no serviço de urgências para um síncope. Durante a sua avaliação, se identificou mixoma auricular como etiologia deste

Humans , Male , Aged, 80 and over , Syncope/etiology , Heart Neoplasms/diagnostic imaging , Myxoma/diagnostic imaging , Echocardiography, Transesophageal , Octogenarians , Heart Atria , Heart Neoplasms/surgery , Myxoma/surgery
ABC., imagem cardiovasc ; 35(3): eabc302, 2022. ilus, tab
Article in Portuguese | LILACS | ID: biblio-1411394


Tumores cardíacos (TC) em crianças são lesões muito raras, mas seu diagnóstico é fundamental para a conduta adotada para o paciente. A ecocardiografia é a modalidade de imagem cardiovascular mais utilizada na prática clínica para o diagnóstico inicial de TC em pacientes pediátricos. Conhecer as características ecocardiográficas das TCs pode possibilitar um diagnóstico cada vez mais precoce e a identificação de sua etiologia mais provável. Os TCs primários e benignos são os mais frequentes na população pediátrica. Entre os TCs benignos, os mais frequentes em fetos e neonatos são rabdomiomas e teratomas. Em crianças e adolescentes, rabdomiomas e fibromas são os mais comuns. Neste artigo, descrevemos as características ecocardiográficas dos principais TCs em idades pediátricas.(AU)

Cardiac tumors (CTs) in children are very rare, but their diagnosis is crucial for patient management. Echocardiography is the most commonly used cardiovascular imaging modality in clinical practice for the initial diagnosis of CTs in pediatric patients. Knowing the echocardiographic characteristics of CTs can enable an increasingly early diagnosis and the identification of its most likely etiology. Primary and benign CTs are the most frequent types in the pediatric population. Among benign CTs, the most frequent in fetuses and neonates are rhabdomyomas and teratomas. In children and adolescents, rhabdomyomas and fibromas are more common. Here we describe the echocardiographic characteristics of the most common CTs in pediatric patients.(AU)

Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Pediatrics , Cardiac Imaging Techniques/methods , Heart Neoplasms/etiology , Heart Neoplasms/diagnostic imaging , Rhabdomyoma/diagnostic imaging , Teratoma/diagnostic imaging , Echocardiography/methods , Diagnosis, Differential , Fibroma/diagnostic imaging , Myxoma/diagnosis
Einstein (Säo Paulo) ; 20: eRC6478, 2022. tab, graf
Article in English | LILACS | ID: biblio-1364801


ABSTRACT Primary cardiac tumors are rare, with an incidence between 0.0017 and 0.19%, and are asymptomatic in up to 72% of cases. Approximately 75% of tumors are benign, and nearly 50% of these are myxomas. Concerning location, 75% of myxomas are in the left atrium, 15 to 20% in the right atrium, and more rarely in the ventricles. The finding of cardiac myxomas usually implies immediate surgical excision to prevent embolic events and sudden cardiac death. Reports with documented growth rate are rare, and the actual growth rate remains a controversial issue. We report the rapid growth rate of a right atrial myxoma in an oligosymptomatic 69-year-old patient, with negative previous echocardiographic history in the last two years, who refused surgery upon diagnosis, enabling monitoring of myxoma growth.

Humans , Aged , Heart Neoplasms/surgery , Heart Neoplasms/diagnostic imaging , Myxoma/surgery , Myxoma/diagnostic imaging , Echocardiography , Incidence , Heart Atria/pathology , Heart Atria/diagnostic imaging
An. bras. dermatol ; 96(6): 726-729, Nov.-Dec. 2021. graf
Article in English | LILACS | ID: biblio-1355633


Abstract Carney complex is a rare genodermatosis characterized by cardiac and cutaneous myxomas, among other tumors. In the majority of cases, cutaneous myxomas precede the diagnosis of cardiac myxomas, which are the main cause of death in these patients. Despite the fact that the diagnosis of cutaneous myxomas is histopathological, high-frequency ultrasonography plays an essential role in the differential diagnosis with other cutaneous and subcutaneous tumors. The authors of the present study describe, for the first time in the literature, the ultrasonographic features of both variants of cutaneous myxomas, superficial and subcutaneous, in a patient with a Carney complex.

Humans , Skin Neoplasms/diagnostic imaging , Carney Complex/diagnostic imaging , Heart Neoplasms/diagnostic imaging , Myxoma/diagnostic imaging , Diagnosis, Differential
Rev. bras. cir. cardiovasc ; 36(5): 656-662, Sept.-Oct. 2021. tab, graf
Article in English | LILACS | ID: biblio-1351642


Abstract Introduction: This study aimed to review the surgical excision results and pathological diagnostic features of rarely observed intracardiac masses in the light of the literature. Diagnosis and treatment approaches and complications were evaluated. Methods: Forty patients (26 females, mean age 52.1±18.1 years, and 14 males, mean age 48.1±20.5 years), who had undergone surgery for intracardiac mass between January 2008 and December 2018, were included in this study. The patients' data were analyzed retrospectively from the medical records of both centers. Results: When the pathological diagnoses were examined, 85.8% of the masses (n=35) were observed to be benign (benign tumor + hydatid cyst) and 14.2% (n=5) were malignant tumors. The masses were most commonly located in the left atrium (75%, n=30), and this was followed by the right ventricle (12.5%, n=5), right atrium (7.5%, n=3), and left ventricle (5%, n=2). Of the patients, 7.5% (n=3) died during the early postoperative period, while the remaining 92.5% (n=37) were discharged with healing. In the histopathological diagnosis of the patients, in whom in-hospital major adverse cardiovascular events were observed, there was malignancy in two cases. Conclusion: Intracardiac masses, which have pathological features, are severe life-threatening problems. In-hospital mortality is frequent, especially in malignant tumors.

Humans , Male , Female , Adult , Aged , Echinococcosis , Heart Neoplasms/surgery , Heart Neoplasms/diagnostic imaging , Retrospective Studies , Heart Atria/surgery , Heart Ventricles/surgery , Heart Ventricles/diagnostic imaging , Middle Aged
Medicina (B.Aires) ; 81(4): 637-640, ago. 2021. graf
Article in Spanish | LILACS | ID: biblio-1346517


Resumen Las neoplasias cardíacas son entidades poco frecuentes en la práctica clínica cardiológica y dentro de éstas, la afectación metastásica es 20 a 40 veces más frecuente que la forma primaria, corres pondiendo al 95% de todos los tumores cardíacos; no obstante, debido a las características clínicas y oncológicas del tumor primario, los tumores cardíacos metastásicos son habitualmente subdiagnosticados. En este trabajo se presentan dos casos de pacientes con carcinoma anaplásico de tiroides, una mujer de 69 años con metástasis en ventrículo derecho y un varón de 61 años con metástasis en aurícula derecha. Ambos pacientes fallecieron durante la internación y a uno de ellos se le realizó autopsia.

Abstract Cardiac neoplasms are rare entities in the clinical practice. Cardiac metastatic involvement is 20 to 40 times more frequent than the primary form, representing 95% of all cardiac tumors; however, they are frequently underdiagnosed because of their clinical and oncologic features. In this report, we present two cases of cardiac metastasis from primary anaplastic thyroid carcinoma: a 69-years-old woman with right ventricular metastasis and a 61-years-old man with right atrial metastasis. Both patients died during their hospitalization and one of them underwent an autopsy.

Humans , Male , Female , Middle Aged , Aged , Skin Neoplasms , Thyroid Neoplasms , Thyroid Carcinoma, Anaplastic , Heart Neoplasms/diagnostic imaging , Melanoma
Rev. urug. cardiol ; 36(1): e36108, abr. 2021. ilus
Article in Spanish | BNUY, UY-BNMED, LILACS | ID: biblio-1252493


Los linfomas cardíacos primarios son un subtipo muy poco frecuente de tumor en los cuales la lesión primaria se encuentra en el corazón. Los tumores suelen ser infiltrantes y se localizan en la aurícula derecha, seguidos del pericardio. Su mortalidad es notablemente alta y el diagnóstico tardío es el principal factor para su mal pronóstico. Describimos el caso de un paciente que presentó shock obstructivo por derrame pericárdico profuso causado por un tipo raro de tumor cardíaco primario, un linfoma pericárdico de células T/NK.

Primary cardiac lymphomas are a rare subtype of lymphomas in which the primary lesion is in the heart. The tumors are usually located in the right atria, followed by the pericardium and are frequently infiltrative. Mortality is remarkably high in this group and the delayed diagnosis is the main factor for its poor prognosis. We describe the case of a patient that presented with obstructive shock due to profuse pericardial effuse caused by a rare kind of primary cardiac tumor, a T/NK cell pericardial lymphoma.

Os linfomas cardíacos primários são um subtipo de tumor muito raro, no qual a lesão primária está no coração. Os tumores geralmente são infiltrativos e localizam-se no átrio direito, seguidos pelo pericárdio. Sua mortalidade é notavelmente alta e o diagnóstico tardio é o principal fator que produz seu mau prognóstico. Descrevemos o caso de um paciente que apresentou choque obstrutivo devido a um derrame pericárdico profuso causado por um tipo raro de tumor cardíaco primário, um linfoma pericárdico de células T/NK.

Humans , Female , Aged , Lymphoma, T-Cell/pathology , Lymphoma, T-Cell/drug therapy , Lymphoma, T-Cell/diagnostic imaging , Heart Neoplasms/pathology , Heart Neoplasms/drug therapy , Heart Neoplasms/diagnostic imaging , Pericardial Effusion/therapy , Pericardial Effusion/diagnostic imaging , Pericardium/pathology , Cardiac Tamponade/therapy
Rev. chil. cardiol ; 40(1): 54-58, abr. 2021. ilus
Article in Spanish | LILACS | ID: biblio-1388078


Resumen: Los tumores cardíacos pueden ser primarios o, más frecuentemente secundarios o metastásicos. Entre los tumores primarios es más frecuente el mixoma, cuya ubicación más común es en la aurícula izquierda. Las manifestaciones clínicas son diversas, producidas principalmente por obstrucción mecánica, embolizaciones, y manifestaciones constitucionales. Se comunica el caso de un paciente de 32 años, con cuadro clínico de insuficiencia cardíaca, hipertensión pulmonar severa y tromboembolismo pulmonar bilateral. Se hizo el diagnóstico de mixoma auricular izquierdo. Se resecó el tumor y se manejó la hipertensión pulmonar desde el ingreso al hospital con inhibidores de la fosfodiesterasa asociado a anticoagulación. Se discute el tema dando énfasis a aspectos fisiopatológicos involucrados tanto en la hipertensión pulmonar como en la presencia de tromboembolia pulmonar.

Abstract: Cardiac tumors may be primary or, more frequently secondary or associated to metastasis. Atril myxoma es the most frequent primary tumor, usually located in the left atrium. Clinical manifestations include those due to mitral valve occlusión, emboli and general non spedific symptoms and signs. Herein we report the clinical case of a 32 year old patient with severe pulmonary hypertension and bilateral pulmonary embolism. The tumor was extirpated, and he received phosphoro-diesterase inhiborts and anticoagulants. Subsequent clinical course was satisfactory. A brief discussion of this condicion is included.

Humans , Male , Adult , Pulmonary Embolism/etiology , Heart Neoplasms/complications , Hypertension, Pulmonary/etiology , Myxoma/complications , Phosphodiesterase Inhibitors/therapeutic use , Pulmonary Embolism/drug therapy , Pulmonary Embolism/diagnostic imaging , Heart Neoplasms/surgery , Heart Neoplasms/diagnostic imaging , Hypertension, Pulmonary/drug therapy , Hypertension, Pulmonary/diagnostic imaging , Anticoagulants/therapeutic use , Myxoma/surgery , Myxoma/diagnostic imaging
Rev. bras. cir. cardiovasc ; 36(2): 257-260, Mar.-Apr. 2021. tab, graf
Article in English | LILACS | ID: biblio-1251102


Abstract Right ventricular (RV) myxoma that obstructs the RV outflow tract is rare. Multimodality imaging is crucial due to the curved and triangular shape of the RV anatomy. Incomplete resection by the right atrial approach in cardiac myxomas may be prevented by preoperative imaging with echocardiography, computed tomography and magnetic resonance imaging to provide detailed visualization. Right ventriculotomy may be an alternative approach to the isolated atrial approach to get complete resection of RV myxoma in suitable patients. The preferred surgical treatment is not well defined for ventricular myxomas and careful preoperative planning is essential. Surgical resection should be performed as soon as possible to avoid outflow tract obstruction, which might result in sudden death. The collaboration between cardiologist and heart surgeon and the effective use of imaging tools are essential for successful treatment. In this article, diagnosis and treatment and the heart team approach to RV myxoma are discussed with a demonstrative patient.

Humans , Heart Neoplasms/surgery , Heart Neoplasms/diagnostic imaging , Myxoma/surgery , Myxoma/diagnostic imaging , Echocardiography , Heart Atria/surgery , Heart Atria/diagnostic imaging , Heart Ventricles/surgery , Heart Ventricles/diagnostic imaging
Rev. bras. cir. cardiovasc ; 36(1): 112-115, Jan.-Feb. 2021. tab, graf
Article in English | LILACS | ID: biblio-1155784


Abstract A 71 year-old male with a history of multiple excisions of an initial Clark's level V melanoma of the breast followed by combined radiation and interferon treatment, as well as a recurrence, 3 years later, of a BRAF-positive tumor of the shoulder, with subsequent therapy with dabrafenib and trametinib, presented again with progressive intracardiac masses causing significant right ventricular outflow obstruction. Additionally, the patient complained of dyspnea and fatigue on exertion, thus he was scheduled for surgical resection.

Humans , Male , Aged , Skin Neoplasms/surgery , Heart Neoplasms/surgery , Heart Neoplasms/diagnostic imaging , Melanoma/surgery , Melanoma/drug therapy , Mutation , Neoplasm Recurrence, Local
Rev. urug. cardiol ; 36(3): e701, 2021. ilus
Article in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1367066


Los tumores cardíacos malignos son neoplasias poco frecuentes que pueden presentarse de diversas formas, lo que dificulta su diagnóstico. La ecocardiografía y la resonancia magnética cardíaca son técnicas fundamentales para el diagnóstico, la caracterización y la evaluación de su extensión tumoral. La identificación de la línea tumoral es esencial al iniciar un tratamiento oncológico dirigido. Si bien el "estándar de oro" para este fin es el estudio anatomopatológico (obtenido por biopsia o resección quirúrgica), en los casos en que esto no es posible, la resonancia magnética cardíaca es la técnica no invasiva que proporciona un mejor abordaje diagnóstico. El tratamiento de elección es la resección quirúrgica y el pronóstico, en general, es malo. Presentamos el caso de una paciente con un tumor cardíaco de presentación clínica atípica, en la que un abordaje imagenológico multimodal aporta información clave y complementaria para el diagnóstico y la caracterización tisular.

Malignant cardiac tumors are rare neoplasms that can present in various forms, making their diagnosis difficult. Echocardiography and cardiac magnetic resonance imaging are fundamental techniques for the diagnosis, characterization, and evaluation of tumor extension. Identification of the tumor line is essential when initiating targeted cancer therapy. Although the "gold standard" for this purpose is the pathological study (obtained by biopsy or surgical resection), in cases where this is not possible, cardiac resonance is the non-invasive technique that provides a better diagnostic approach. The treatment of choice is surgical resection and the prognosis is generally poor. We present the case of a patient with an atypical clinical presentation, in which a multimodal approach provides key and complementary information for tumor diagnosis and tissue characterization.

Os tumores cardíacos malignos são neoplasias raras que podem se apresentar de várias formas, dificultando seu diagnóstico. A ecocardiografia e a ressonância magnética cardíaca são técnicas fundamentais para o diagnóstico, caracterização e avaliação da extensão tumoral. A identificação da linha do tumor é essencial ao iniciar a terapia direcionada do câncer. Embora o "padrão ouro" para esse fim seja o estudo patológico (obtido por biópsia ou ressecção cirúrgica), nos casos em que isso não seja possível, a ressonância cardíaca é a técnica não invasiva que proporciona melhor abordagem diagnóstica. O tratamento de escolha é a ressecção cirúrgica e o pronóstico geralmente é ruim. Apresentamos o caso de uma paciente com apresentação clínica atípica, em que a abordagem multimodal fornece informações essenciais e complementares para o diagnóstico do tumor e caracterização do tecido.

Humans , Female , Middle Aged , Heart Neoplasms/diagnostic imaging , Magnetic Resonance Imaging , Coronary Angiography , Electrocardiography , Multimodal Imaging
Chinese Journal of Cardiology ; (12): 374-379, 2021.
Article in Chinese | WPRIM | ID: wpr-941289


Objective: To investigate the clinical, cardiac imaging characteristics and prognosis of patients with primary cardiac angiosarcoma. Methods: The clinical data of 14 patients hospitalized with primary cardiac angiosarcoma from January 2001 to December 2017 in Peking Union Medical College Hospital were collected and analyzed. Metastatic cardiac angiosarcoma was not included in this study. Patients were followed up post discharge per telephone call or clinical visit. Results: Of the 14 patients, 8 were males and 6 were females, average age was 48 years. The main clinical symptoms were shortness of breath (8/14), hemoptysis (6/14), fever (5/14), chest pain (4/14) and cough (3/14). Imaging examinations showed that the tumors of 8 patients were located in the right heart and 6 in the pericardial cavity. Tumors in the right heart often infiltrate the atrial wall and cause pericardial effusion (7/8). Tumors in the pericardium were characterized by recurrent bloody pericardial effusion (6/6), prone to progressive constrictive pericarditis (3/6), pericardial fluid cytology was often negative (6/6). MRI showed heterogeneous high signal intensity (cauliflower aspect) on T2-weighted image and heterogeneous enhancement with a"sunray" aspect at the perfusion study. At the time of diagnosis, 8 patients developed lung or adrenal metastasis (8/14). The median survival was only 305 days. Conclusions: Primary cardiac angiosarcoma is a rare disease with non-specific clinical manifestation and poor prognosis. Imaging examinations may help diagnosis. The high invasiveness and the easy-to-metastasis feature of the tumor contribute to the poor prognosis of cardiac angiosarcoma.

Female , Humans , Male , Middle Aged , Aftercare , Heart Neoplasms/diagnostic imaging , Hemangiosarcoma/diagnostic imaging , Patient Discharge , Pericardial Effusion
Rev. bras. cir. cardiovasc ; 35(5): 770-780, Sept.-Oct. 2020. tab
Article in English | LILACS, SES-SP | ID: biblio-1137353


Abstract Objective: To understand the current evidence and guidelines behind the appropriate management of cardiac tumours. Methods: A comprehensive electronic literature search has been performed in major databases - PubMed, Embase, Scopus, Ovid, and Google Scholar. All articles that discussed all different forms of cardiac tumours, their clinical presentation, diagnosis, and management methods have been critically appraised in this narrative review. Results: All relevant studies have been summarized in appropriate sections within our review. Cardiac tumours are rare but can be catastrophic and life-threatening if not identified and managed on timely manner. Utilization of all the available imaging methods can be of equivocal importance, relevant to each cardiac tumour. Surgical excision is the ultimate treatment method, however histopathological results can guide the adjunct treatment. Conclusion: Early detection of cardiac tumours has significant effect on planning the method of intervention. Technological advancements and increased availability of imaging modalities have enabled earlier and more accurate detection of these tumours. Novel medical therapies, recommendations for screening, and operative techniques have all contributed to overall improving knowledge of these tumours and ultimately patient outcomes.

Humans , Male , Female , Infant, Newborn , Child , Middle Aged , Aged , Early Detection of Cancer , Heart Neoplasms/surgery , Heart Neoplasms/diagnostic imaging
Rev. chil. cardiol ; 39(2): 147-153, ago. 2020. graf
Article in Spanish | LILACS | ID: biblio-1138527


Abstract: A 49-year-old woman presented with dyspnea and palpitations, leading to Functional Class III.An echocardiogram showed a heterogeneous mass adhered to the right heart cavities. This was confirmed by NMR. A large right coronary artery was occluded in relation to the tumor, which was hyper vascularized. Resection of the tumor was performed; the right ventricular wall was sutured, and an atrial defect was closed using pericardial tissue. Post operative course was uneventful and she was asymptomatic 4 years after surgery.

Humans , Female , Middle Aged , Paraganglioma/surgery , Heart Neoplasms/surgery , Paraganglioma/complications , Paraganglioma/diagnostic imaging , Angiography , Magnetic Resonance Spectroscopy , Dyspnea/etiology , Heart Neoplasms/complications , Heart Neoplasms/diagnostic imaging
Rev. bras. cir. cardiovasc ; 35(3): 399-401, May-June 2020. tab, graf
Article in English | LILACS, SES-SP | ID: biblio-1137256


Abstract Primary malignant neoplasms of the heart are rare. Cardiac rhabdomyosarcoma is the second most common primary sarcoma. We report a rare case of a 49-year-old woman with a huge biatrial cardiac rhabdomyosarcoma treated by performing surgical resection followed by salvage chemotherapy for local recurrence. Cardiac sarcoma that occupy both atria are extremely rare. Although the prognosis of cardiac rhabdomyosarcoma is dismal, surgical resection should be recommended as a first line therapy to clarify the diagnosis and to relieve symptoms associated with the tumor.

Humans , Female , Middle Aged , Rhabdomyosarcoma/surgery , Rhabdomyosarcoma/diagnostic imaging , Heart Neoplasms/surgery , Heart Neoplasms/diagnostic imaging , Heart Atria/surgery , Heart Atria/diagnostic imaging , Neoplasm Recurrence, Local
Rev. chil. obstet. ginecol. (En línea) ; 85(3): 255-262, jun. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1126160


INTRODUCCIÓN: El Síndrome de Down (SD) es una de las aneuploidías más frecuentes. En Chile, la incidencia es de 2.2 por 1000 nv. La esclerosis tuberosa (ET) es una enfermedad genética autosómica dominante con una prevalencia de 1:600 a 1:10.000 nacidos vivos (nv) que se sospecha prenatalmente por la presencia de rabdomiomas cardiacos. Los tumores cardiacos fetales tienen una prevalencia de 1:10000 nv, los más prevalentes son los Rabdomiomas. El hallazgo de tumores intracraneanos son infrecuentes, dentro del diagnóstico diferencial es necesario descartar la Hemorragia Intraventricular (HIV). CASO CLÍNICO: Paciente de 29 años, M2, Derivada a nuestro centro a las 27+4 semanas para evaluación ecográfica. Entre los hallazgos se encuentran tumores intracardiacos en ventrículo derecho y marcadores blandos para alto riesgo de aneuploidía, por lo que se realiza cariotipo (amniocentesis genética: 47, XX+21). A las 32+0 semanas en una nueva evaluación presenta imagen hiperecogénica sugerente de tumor intracerebral. Se solicita resonancia magnética fetal que informa hemorragia intraventricular (HIV). El parto ocurre con un recién nacido de término, fenotipo concordante con Trisomía 21, ecocardiograma confirma dos tumores intracardiacos (Rabdomiomas) y ecografía cerebral confirma el diagnóstico de HIV Grado III derecho. Ante el diagnóstico diferencial de ET, se realiza ANGIO-TAC que resulta negativo para ET. DISCUSIÓN: En la evaluación ecográfica antenatal, la presencia de tumores intracardiacos asociados a tumor cerebral hace plantear el diagnóstico de una ET. El diagnóstico antenatal de tumores cerebrales vs HIV por ultrasonido es difícil. La resonancia es un examen complementario de gran ayuda, permitiendo un diagnóstico de certeza. La HIV fetal es un diagnóstico poco frecuente de diagnostico prenatal asociado a feto con trisomia 21.

INTRODUCTION: Down Syndrome (DS) is one of the most frequent aneuploidies. In our country its incidence is 2.2 every 1000 newborns. Tuberous sclerosis (TS) is a dominant autosomal genetic disease with a prevalence of 1:6000 to 1:10.000 newborns, this disease is suspected by the finding of cardiac rhabdomyomas. Rhabdomyomas are the most prevalent fetal heart tumors. Intracranial tumors are a rare prenatal finding in ultrasound the main differential diagnosis is Intraventricular Hemorrhage (IVH). The Objective of this paper is present a case report of a fetus with trisomy 21 plus rhabdomyomas and cranial tumors. CASE REPORT: 29 years old patient, referred for ultrasound at 27+4 week. Cardiac tumors and aneuploidy soft markers are found. Genetic amniocentesis is performed (Result: 47, XX+21). At 32+0 weeks ultrasound finding of intracranial tumor. Fetal MRI was performed which reports suspected IVH. Confirmed postnatally. Baby was delivered at term. Neonatal findings: Trisomy 21 phenotype, Echocardiogram with two cardiac tumors (Rhabdomyomas), neonatal brain ultrasound confirms Grade III - IVH. To rule out TS, an Angio-CT is performed which is negative for the disease. DISCUSSION: Cardiac Tumors associated to brain tumors in antenatal period make TS a possible diagnosis. Differentiate brain tumors and IVH by ultrasound is very difficult. MRI is a very helpful tool for an accurate diagnostic. IVH is a rare antenatal diagnosis. Not reported before in a baby with trisomy 21.

Humans , Female , Pregnancy , Adult , Rhabdomyoma/diagnostic imaging , Tuberous Sclerosis/diagnostic imaging , Down Syndrome , Intracranial Hemorrhages/diagnostic imaging , Heart Neoplasms/diagnostic imaging , Prenatal Diagnosis , Diagnosis, Differential , Karyotype , Amniocentesis