RESUMO
BACKGROUND: Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene. Skin lesions are the most pronounced feature of Carney syndrome, affecting over 80% of individuals with this condition. This syndrome is characterized by a triad of myxomas, skin pigmentation, and endocrine hyperfunction, featuring multiple endocrine neoplasms with skin and cardiac involvement. Dilated cardiomyopathy, a primary cardiomyopathy, is defined as the dilation and impaired systolic function of the left or both ventricles. Its clinical presentation varies from being asymptomatic to heart failure or sudden cardiac death, making it a leading global cause of heart failure. Currently, Dilated cardiomyopathy has an estimated prevalence of 1/2500-1/250 individuals, predominantly affecting those aged 30-40 years, with a male-to-female ratio of 3:1. This case report describes a heart failure patient with cardiac myxoma caused by Carney syndrome combined with dilated cardiomyopathy. The patient was successfully treated for heart failure by heart transplantation. CASE PRESENTATION: Herein, we report a case of heart failure due to Carney syndrome that resulted in cardiac myxoma combined with dilated cardiomyopathy. A 35-year-old male was admitted to the hospital three years ago because of sudden chest tightness and shortness of breath. Echocardiography indicated myxoma, and a combination of genetic screening and physical examination confirmed Carney syndrome with cardiac myxoma. Following symptomatic management, he was discharged. Surgical interventions were not considered at the time. However, the patient's chest tightness and shortness of breath symptoms worsened, and he returned to the hospital. A New York Heart Association grade IV heart function was confirmed, and echocardiography indicated the presence of dilated cardiomyopathy accompanied by cardiac myxoma. Ultimately, the patient's heart failure was successfully treated with heart transplantation. CONCLUSIONS: Cardiac myxoma caused by Carney syndrome combined with heart failure caused by dilated cardiomyopathy can be resolved by heart transplantation.
Assuntos
Cardiomiopatia Dilatada , Complexo de Carney , Insuficiência Cardíaca , Neoplasias Cardíacas , Transplante de Coração , Mixoma , Humanos , Cardiomiopatia Dilatada/cirurgia , Cardiomiopatia Dilatada/etiologia , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/diagnóstico por imagem , Masculino , Complexo de Carney/genética , Complexo de Carney/diagnóstico , Complexo de Carney/cirurgia , Complexo de Carney/complicações , Adulto , Mixoma/complicações , Mixoma/cirurgia , Mixoma/diagnóstico por imagem , Mixoma/diagnóstico , Mixoma/genética , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/cirurgia , Neoplasias Cardíacas/cirurgia , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/genética , Resultado do Tratamento , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genéticaRESUMO
A cardiac myxoma is a rare tumor that could be incidental or present with common symptoms due to embolization. A minority of cases are attributed to carney complex, a rare inherited disease. A 73-year-old Asian male presented with acute left-side weakness, slurred speech, gait imbalance, and subacute constitutional symptoms. Left atrial myxoma was discovered by computed tomography and confirmed by echocardiography. Brain imaging revealed pituitary macroadenoma with subarachnoid and intraventricular hemorrages. The hormonal profile confirmed pituitary apoplexy, for which hormone replacement was initiated. Workup also revealed multiple endocrine tumors and excluded infection and malignancy. Myxoma resection could not be carried out, due to the patient's rapid clinical deterioration and death.Furthermore, the presence of cardiac myxoma, non-functioning pituitary macroadenomas, and pituitary apoplexy is extremely rare and rarely documented in the literature. Therefore, we emphasize clinical awareness of rare conditions with atypical presentations to improve outcomes.
Assuntos
Complexo de Carney , Neoplasias Cardíacas , Mixoma , Apoplexia Hipofisária , Neoplasias Hipofisárias , Idoso , Complexo de Carney/diagnóstico , Complexo de Carney/cirurgia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/patologia , Humanos , Masculino , Mixoma/diagnóstico por imagem , Mixoma/patologia , Apoplexia Hipofisária/etiologia , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/diagnóstico por imagemRESUMO
The most frequent endocrine Carney complex manifestation is a bilateral primary pigmented nodular adrenocortical disease and bilateral adrenalectomy (BA) is therefore its main treatment. In this study, a 40 years follow-up of six members of the same family with heterozygous PRKAR1A germline mutation, is reported over two generations. The first cases, two sisters with severe hyperandrogenism and Cushing syndrome (CS) diagnosed in 1972 at age 14 and 25, were successfully treated with unilateral adrenalectomy (UA). Their two brothers were then diagnosed, one with a CS-related severe osteoporosis treated with BA and the other with CS treated with UA. The second generation was diagnosed with CS signs at 7 and 21 years of age and were treated with BA and UA respectively. Out of the four patients treated with UA, the only event possibly related to CS was spontaneous episode of pulmonary embolism, 30 years after surgery. Hormonal evaluation revealed either eucortisolism in one patient or partial adrenal deficiency in two and mild hypercortisolism in one patient. For the two patients with BA, one of them accidentally died. The second one, surprisingly, recovered progressively normal cortisol secretion and circadian variation. Steroid substitution was stopped 6 years after her surgery and we demonstrated by iodocholesterol scintigraphy the presence of bilateral adrenal remnants. In conclusion, our results of long term evolution of PPNAD patients show that UA in this subset of patients could be considered to treat CS.
Assuntos
Doenças do Córtex Suprarrenal , Hiperplasia Suprarrenal Congênita , Complexo de Carney , Síndrome de Cushing , Adolescente , Doenças do Córtex Suprarrenal/diagnóstico , Hiperplasia Suprarrenal Congênita/cirurgia , Adrenalectomia , Adulto , Complexo de Carney/genética , Complexo de Carney/cirurgia , Síndrome de Cushing/diagnóstico , Feminino , Humanos , Masculino , Cintilografia , Adulto JovemRESUMO
We herein report a case of Carney complex (CNC) complicated with primary pigmented nodular adrenocortical disease (PPNAD) after unilateral adrenalectomy. A 44-year-old woman was admitted to our hospital for PPNAD surgery. She had previously undergone surgery for cardiac myxoma and had a PRKAR1A mutation with no family history of CNC. She had Cushing's signs, but her metabolic abnormalities were mild. Adrenal insufficiency due to poor medication adherence was a concern, so she underwent unilateral adrenalectomy. Cushing's signs improved postoperatively and without recurrence for five years. Treatment plans for PPNAD should be determined based on the patient's condition, medication adherence, and wishes.
Assuntos
Doenças do Córtex Suprarrenal , Complexo de Carney , Síndrome de Cushing , Doenças do Córtex Suprarrenal/genética , Doenças do Córtex Suprarrenal/cirurgia , Adrenalectomia , Adulto , Complexo de Carney/genética , Complexo de Carney/cirurgia , Síndrome de Cushing/etiologia , Síndrome de Cushing/cirurgia , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Feminino , HumanosRESUMO
Carney complex is a rare syndrome caused by a genetic mutation leading to multiple endocrine abnormalities and a variety of tumors. Here, we report a case of Carney complex diagnosed due to recurrent multiple myxomas in the right atrium of a patient 16 years after the resection of the primary left atrial myxoma. Surgical excision was performed for the multiple recurrent right atrial tumors under cardiopulmonary bypass. The patient remained complication-free after surgery and was discharged on the 14th day. He was scheduled to continue echocardiographic follow-up and periodic systemic review by an endocrinologist. This case emphasizes the fact that if cardiac myxomas tend to be multiple and recurrent at a relatively young age, the possibility of Carney complex should be considered, even in the absence of any other related feature other than cardiac tumors.
Assuntos
Complexo de Carney , Neoplasias Cardíacas , Mixoma , Complexo de Carney/diagnóstico , Complexo de Carney/genética , Complexo de Carney/cirurgia , Átrios do Coração/diagnóstico por imagem , Átrios do Coração/cirurgia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/genética , Neoplasias Cardíacas/cirurgia , Humanos , Masculino , Mixoma/diagnóstico por imagem , Mixoma/genética , Mixoma/cirurgia , Recidiva Local de NeoplasiaAssuntos
Humanos , Feminino , Idoso , Estenose Coronária/diagnóstico por imagem , Complexo de Carney/cirurgia , Infarto do Miocárdio com Supradesnível do Segmento ST/diagnóstico por imagem , Átrios do Coração/patologia , Procedimentos Cirúrgicos Cardíacos/reabilitação , Ecocardiografia/métodos , Ecocardiografia Doppler/métodos , Imagem do Acúmulo Cardíaco de Comporta/métodos , Ativador de Plasminogênio Tecidual/química , Assistência ao Convalescente , Eletrocardiografia/métodos , Oclusão Coronária/diagnóstico por imagemAssuntos
Humanos , Feminino , Pessoa de Meia-Idade , Complexo de Carney/cirurgia , Complexo de Carney/diagnóstico por imagem , Átrios do Coração/fisiopatologia , Valva Mitral/fisiopatologia , Estenose da Valva Mitral/diagnóstico por imagem , Alta do Paciente , Procedimentos Cirúrgicos Operatórios/métodos , Fatores de Tempo , Ecocardiografia/métodos , Espectroscopia de Ressonância Magnética/métodos , Radiografia Torácica/métodos , Eletrocardiografia/métodos , Circulação Extracorpórea/métodos , Esternotomia/métodos , Anuloplastia da Valva Mitral , Unidades de Terapia IntensivaAssuntos
Complexo de Carney/patologia , Átrios do Coração/patologia , Ventrículos do Coração/patologia , Recidiva Local de Neoplasia , Complexo de Carney/complicações , Complexo de Carney/genética , Complexo de Carney/cirurgia , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Feminino , Predisposição Genética para Doença , Átrios do Coração/cirurgia , Ventrículos do Coração/cirurgia , Humanos , Mutação , Fenótipo , Reoperação , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Infective endocarditis and cardiac myxoma have common features including fever, systemic embolism and intra-cardiac masses. For this reason, these diseases are often misdiagnosed one for another despite proper imaging studies. Herein, we report a case of suspected infective endocarditis in a patient with acute stroke, fever and a mass adjacent to the mitral valve. CASE PRESENTATION: A 24-year-old male patient presented with recurrent fever and stroke. In view of a history of Cushing syndrome and a mobile mass in the left atrium, infective endocarditis was highly suspected. He was transferred for emergency cardiac surgical intervention. During surgery, intraoperative transesophageal echocardiography revealed a 7 cm mass attached to the interatrial septum. The mass was excised through right mini-thoracotomy and pathological examination confirmed the presence of a myxoma. Based on the above clinical findings and genetic analysis, the diagnosis of Carney complex was confirmed. CONCLUSIONS: Infective endocarditis and cardiac myxoma have common features and can be misdiagnosed. If a young patient presenting with embolic stroke had a history of an endocrine neoplasm, Carney complex should be considered in the differential diagnosis of infective endocarditis.
Assuntos
Complexo de Carney/diagnóstico , Complexo de Carney/cirurgia , Endocardite/diagnóstico por imagem , Complexo de Carney/complicações , Erros de Diagnóstico , Ecocardiografia Transesofagiana , Febre/etiologia , Humanos , Masculino , Acidente Vascular Cerebral/etiologia , Adulto JovemRESUMO
Background: Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome with autosomal dominant inheritance. Affected individuals present with mucocutaneous lentigines/blue nevi, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. Mutations in PRKAR1A have been identified as genetic cause of the disease. Here, we report on pregnancy, delivery and puerperium in a woman with genetically confirmed CNC and her newborn. Case: The 31 year-old gravida 5 para 1 with CNC was referred at 26 weeks of gestation. Adrenocorticotropin-independent hypercortisolism, hyperglycemia, hypertension, low serum potassium, and osteoporotic fractures were present. Treatment with metyrapone, a reversible 11-beta-hydroxylase inhibitor, was initiated. The maternal condition improved, and a 5 weeks' pregnancy prolongation could be achieved. Elective repeat cesarean section was performed at 31 weeks of gestation for recurrent vaginal bleeding. The neonate developed transient hyponatremia necessitating hydrocortisone substitution for 2 weeks. Conclusion: In our case, treatment of CNC-associated hypercortisolism in pregnancy with metyrapone was effective. Maternal side effects did not occur. The newborn presented with transient hypocortisolism most likely due to transplacental drug effect. Our case illustrates that the treatment of rare diseases in pregnancy represents a challenge requiring interdisciplinary team work.
Assuntos
Antimetabólitos/uso terapêutico , Complexo de Carney/patologia , Cesárea/métodos , Síndrome de Cushing/fisiopatologia , Metirapona/uso terapêutico , Complicações Neoplásicas na Gravidez/patologia , Adulto , Complexo de Carney/tratamento farmacológico , Complexo de Carney/cirurgia , Feminino , Humanos , Recém-Nascido , Gravidez , Complicações Neoplásicas na Gravidez/tratamento farmacológico , Complicações Neoplásicas na Gravidez/cirurgia , Resultado da GravidezAssuntos
Complexo de Carney/patologia , Neoplasias Pulmonares/secundário , Nódulos Pulmonares Múltiplos/secundário , Adulto , Complexo de Carney/diagnóstico por imagem , Complexo de Carney/cirurgia , Angiografia por Tomografia Computadorizada , Ecocardiografia , Evolução Fatal , Transplante de Coração , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/cirurgia , Transplante de Pulmão , Imageamento por Ressonância Magnética , Masculino , Nódulos Pulmonares Múltiplos/diagnóstico por imagem , Nódulos Pulmonares Múltiplos/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: Cardiac myxoma, a common benign primary tumor of the heart can be categorized into syndromic (Carney Complex) and non-syndromic(isolated). Carney Complex associated myxomas can be found in any region and system (cardiac, cutaneous, osseous, genitalia), and may manifest at a tender age. On the contrary, non-syndromic cardiac myxomas are usually confined to the chambers, and symptoms often present from 5th decade of life. Aortic valve myxoma is a very unusual occurrence, and presentation in a teen is extremely rare. CASE REPORT: We share a case of aortic valve myxoma, uncovered using echocardiography in a 16-year-old male, admitted with complaints of exertional chest pain, dyspnoea and systolic murmur. Patient underwent uneventful surgery for tumor excision, and discharged 6-days post operation. CONCLUSION: Given the high risk of developing cardiogenic stroke, infective endocarditis, degenerative effects on aortic valve leaflets and possible sudden death, like many other centers, we advocate for immediate liquidation of aortic myxoma regardless of age and symptoms.
Assuntos
Valva Aórtica , Complexo de Carney/diagnóstico , Neoplasias Cardíacas/diagnóstico , Adolescente , Angina Pectoris/etiologia , Complexo de Carney/complicações , Complexo de Carney/diagnóstico por imagem , Complexo de Carney/cirurgia , Diagnóstico Diferencial , Ecocardiografia , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/cirurgia , Humanos , MasculinoRESUMO
Sporadic ca rdiac myxomas rarely recur, however recurrence rates are higher in patients with a familial aggregation or Carney complex. Carney complex is characterised by multiple mucocutaneous lesions and accounts for up to two-thirds of familial cardiac myxomas. A second recurrence is very rare, even in the case of Carney complex. We report on two cases of recurrent cardiac myxoma, a mother and daughter, who concurrently presented with a second recurrence of atrial myxomas. The time interval between the first and second recurrence following surgery was four years in both. The possibility of repeat recurrence of cardiac myxomas demonstrates the importance of regular echocardiography to detect recurrence and to prevent the potential complications associated with cardiac myxomas. Family screening should be recommended for familial myxomas.
Assuntos
Complexo de Carney/genética , Neoplasias Cardíacas/genética , Mães , Mixoma/genética , Recidiva Local de Neoplasia/genética , Complexo de Carney/diagnóstico por imagem , Complexo de Carney/patologia , Complexo de Carney/cirurgia , Feminino , Predisposição Genética para Doença , Átrios do Coração/diagnóstico por imagem , Átrios do Coração/patologia , Átrios do Coração/cirurgia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/patologia , Neoplasias Cardíacas/cirurgia , Hereditariedade , Humanos , Pessoa de Meia-Idade , Mixoma/diagnóstico por imagem , Mixoma/patologia , Mixoma/cirurgia , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/patologia , Linhagem , Fenótipo , Fatores de Risco , Fatores de Tempo , Adulto JovemRESUMO
BACKGROUND: We sought to analyze clinical features and surgical results of 10 cases of cardiac myxomas in Carney complex (CNC). METHODS: Between January 2003 and December 2013, 10 patients with cardiac myxomas in CNC underwent surgical resection. Associated cardiac lesions included moderate and severe mitral regurgitation in two cases, and moderate tricuspid regurgitation in one case. Age, gender, the incidence of arterial embolism, the rate of multiple cardiac myxomas, and the recurrence rate after resections of cardiac myxoma were compared between isolated cardiac myxomas and cardiac myxomas in CNC. RESULTS: The incidence of cardiac myxoma in CNC was 1.74% (10/574). There were no deaths following surgery. There was one late death due to cerebral embolism 40 months following a reoperation (10%). A significant difference was found in the age, the incidence of arterial embolism, the rate of multiple cardiac myxomas, and the recurrence rate after resection of cardiac myxoma between cardiac myxoma in CNC and isolated cardiac myxoma (P < 0.05). There was no significant difference in gender between cardiac myxoma in CNC and isolated cardiac myxoma (P > 0.05). CONCLUSIONS: Complex myxomas in CNS present at an earlier age, are more prevalent in women than in men, are more often multicentric, with a higher rate of arterial embolism and a high recurrence rate after resection. Close follow-up for cardiac myxoma in CNC after surgery is necessary due to the high recurrence rate.
Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Complexo de Carney/cirurgia , Neoplasias Cardíacas/cirurgia , Adolescente , Adulto , Complexo de Carney/diagnóstico , Ecocardiografia , Feminino , Seguimentos , Átrios do Coração , Neoplasias Cardíacas/diagnóstico , Humanos , Imagem Cinética por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto JovemRESUMO
We describe a case of Carney complex (CNC), a rare hereditary condition, that resulted in the development of cardiac myxomas. We would like to emphasize that we detected the first myxomas in both ventricles, followed by the second myxoma in the right atrium, although cardiac myxomas often originate in the left atrium. We highlight the heightened risk of recurrence and emphasize the importance of performing regular ultrasonic cardiac echography to preclude such outcomes.
Assuntos
Complexo de Carney/cirurgia , Neoplasias Cardíacas/cirurgia , Mixoma/cirurgia , Recidiva Local de Neoplasia/diagnóstico , Complexo de Carney/diagnóstico , Ecocardiografia , Feminino , Átrios do Coração , Neoplasias Cardíacas/diagnóstico , Ventrículos do Coração , Humanos , Pessoa de Meia-Idade , Mixoma/diagnóstico , Doenças Raras , Tomografia Computadorizada por Raios XRESUMO
The initial description of Carney complex (CNC) in 1985 included myxomas, spotty skin pigmentation, and endocrine overactivity (of the adrenal, the pituitary, and the testis). In 1997, thyroid neoplasms were found in 3 patients with CNC and involvement of the gland in the syndrome was apparent. Herein, we describe the clinical, pathologic, and follow-up findings in 26 patients with CNC and a disorder of the thyroid gland. The patients were predominantly middle-aged women with an asymptomatic thyroid mass. Four patients had hyperthyroidism, which was caused by follicular hyperplasia in 2 patients and by toxic adenoma in 2 others. Pathologic findings included benign lesions (follicular hyperplasia, nodular hyperplasia, and follicular adenoma) in 16 patients and carcinomas (follicular or papillary) in 10 patients. The follicular carcinomas had unusual features, multifocality, bilaterality, and lymph node metastasis. The tumor was fatal in 3 of 4 patients with a tumor ≥3 cm in diameter. One patient had an unusual multifocal microscopic follicular hyperplasia. Detection and treatment of the thyroid neoplasms in patients with CNC requires long-term follow-up of patients with the syndrome.
Assuntos
Adenocarcinoma Folicular/patologia , Complexo de Carney/patologia , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Adenocarcinoma Folicular/mortalidade , Adenocarcinoma Folicular/cirurgia , Adolescente , Adulto , Complexo de Carney/mortalidade , Complexo de Carney/cirurgia , Criança , Feminino , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/cirurgia , Resultado do Tratamento , Carga Tumoral , Adulto JovemRESUMO
RATIONALE: Carney complex (CNC) accounts for up to two-thirds of familial cardiac myxoma, which is a rare autosomal dominant syndrome characterized by multiple mucocutaneous lesions and endocrine tumors. Mutation in the cAMP-dependent protein kinase A (PKA) regulatory (R) subunit 1 (PRKAR1A) gene has been identified as a cause of CNC. In this article, we report 3 first-degree relatives with cardiac myxoma who were diagnosed with CNC and underwent surgical resection. PRESENTING CONCERNS: The recurrence of cardiac myxoma was detected in a 45-year-old male by echocardiography 5 years after the resection was carried out, without any additional symptoms. Family screening indicated that his brother and his brother's son also had a history of cardiac myxoma. DIAGNOSIS: The echocardiography of the patient showed a 43âmmâ×â28âmm echo mass at the bottom of the atrial septum near anterior mitral leaflet. Sequencing of the patient's genomic DNA obtained from peripheral blood identified a p.E17X (c.491-492delTG) mutation in PRKAR1A, which encodes the type Iα regulatory subunit of protein kinase A. INTERVENTIONS: The patient received redo cardiac myxoma resection and mitral valve repair under cardiopulmonary bypass. Echocardiographic surveillance was conducted after the surgery. OUTCOMES: The patient recovered quickly after the surgery and was discharged without any abnormality detected by echocardiography. Follow-up after 1 year showed no recurrence of the cardiac myxoma. MAIN LESSON: We recommend echocardiographic surveillance of the affected individuals and their first-degree relatives at regular intervals, given the high risk of recurrence and the morbidity and mortality associated with cardiac tumors in any location.
Assuntos
Complexo de Carney/diagnóstico por imagem , Complexo de Carney/cirurgia , Ponte Cardiopulmonar , Complexo de Carney/genética , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Diagnóstico Diferencial , Família , Humanos , Masculino , Pessoa de Meia-Idade , Valva Mitral/cirurgia , Recidiva Local de NeoplasiaRESUMO
The left ventricle is a less frequent location of cardiac myxomas overall. Meanwhile, cardiac myxomas related to Carney complex (CNC), which is a multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumours, more frequently occur in the left ventricle compared with sporadic cardiac myxomas. Herein, we report a case of a 20-year-old woman with CNC who underwent complete surgical excision of a large and mobile left ventricular myxoma. In our case, echocardiography performed 4 years earlier was normal. This case highlights the importance of annual follow-up by echocardiography in patients with CNC, because early diagnosis of cardiac myxomas might improve their prognosis. Besides, we should bear in mind the possibility of CNC if the patients have cardiac myxoma in a cardiac chamber other than the left atrium at a younger age.
Assuntos
Complexo de Carney/diagnóstico , Ecocardiografia Transesofagiana/métodos , Neoplasias Cardíacas/diagnóstico , Mixoma/diagnóstico , Tomografia por Emissão de Pósitrons/métodos , Tomografia Computadorizada por Raios X/métodos , Procedimentos Cirúrgicos Cardíacos/métodos , Complexo de Carney/cirurgia , Diagnóstico Diferencial , Feminino , Ventrículos do Coração , Humanos , Adulto JovemRESUMO
PURPOSE: Growth hormone (GH)-producing pituitary adenomas (PAs) in childhood or young adulthood are rare, and the details surrounding these tumors remain enigmatic. We present the clinical, pathological and genetic features of this disease. METHODS: We identified 25 patients aged 20 years or younger with GH-producing PAs who underwent surgery between 2003 and 2016 at Toranomon Hospital in Tokyo. We retrospectively reviewed the clinical data, treatment outcomes and pathological features of these patients to shed light on childhood acromegaly. RESULTS: The cohort comprised 14 male and 11 female patients whose average age at the time of surgery was 17.3 years. Germline AIP mutations were present in 5 of 13 patients examined, and Carney complex was identified in 2 of 25 patients. The mean maximum tumor diameter was 26.7 mm, and total resection assessed during surgery was achieved in 17 patients. Based on their respective pathological findings, patients were divided into the following 4 groups: sparsely granulated adenomas (5), densely granulated (DG) adenomas (6), plurihormonal adenomas (9), and silent subtype 3 (SS3) adenomas (5). During the mean follow-up period of 50.3 months, complete endocrinological remission was achieved in 14 of 25 patients (56%) by surgery alone and in 19 patients (76%) after postoperative adjuvant therapy. CONCLUSIONS: GH-producing PAs in young patients are intriguing and difficult to treat due to their distinct tumor characteristics, including a lower incidence of the DG subtype and a higher incidence of SS3 adenomas and genetic abnormalities. Therefore, multi-modal therapies are essential to achieve optimal clinical outcomes.