scholarly journals Growth hormone and risk for cardiac tumors in Carney complex

2016 ◽  
Vol 23 (9) ◽  
pp. 739-746 ◽  
Author(s):  
W Patricia Bandettini ◽  
Alexander S Karageorgiadis ◽  
Ninet Sinaii ◽  
Douglas R Rosing ◽  
Vandana Sachdev ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Cardiac Myxoma ◽  
Heart Tissue ◽  
Carney Complex ◽  
Cardiac Tumors ◽  
Gh Secretion ◽  
Albright Syndrome ◽  
Cardiac Myxomas ◽  
Gh Excess

Carney complex (CNC) is a multiple neoplasia syndrome that is caused mostly by PRKAR1A mutations. Cardiac myxomas are the leading cause of mortality in CNC patients who, in addition, often develop growth hormone (GH) excess. We studied patients with CNC, who were observed for over a period of 20 years (1995–2015) for the development of both GH excess and cardiac myxomas. GH secretion was evaluated by standard testing; dedicated cardiovascular imaging was used to detect cardiac abnormalities. Four excised cardiac myxomas were tested for the expression of insulin-like growth factor-1 (IGF-1). A total of 99 CNC patients (97 with a PRKAR1A mutation) were included in the study with a mean age of 25.8 ± 16.6 years at presentation. Over an observed mean follow-up of 25.8 years, 60% of patients with GH excess (n = 46) developed a cardiac myxoma compared with only 36% of those without GH excess (n = 54) (P = 0.016). Overall, patients with GH excess were also more likely to have a tumor vs those with normal GH secretion (OR: 2.78, 95% CI: 1.23–6.29; P = 0.014). IGF-1 mRNA and protein were higher in CNC myxomas than in normal heart tissue. We conclude that the development of cardiac myxomas in CNC may be associated with increased GH secretion, in a manner analogous to the association between fibrous dysplasia and GH excess in McCune–Albright syndrome, a condition similar to CNC. We speculate that treatment of GH excess in patients with CNC may reduce the likelihood of cardiac myxoma formation and/or recurrence of this tumor.

Carney complex due to a novel pathogenic variant in the PRKAR1A gene – a case report

2019 ◽  
Vol 32 (2) ◽  
pp. 197-202 ◽  
Author(s):  
Sofia H. Ferreira ◽  
Maria M. Costa ◽  
Elisabete Rios ◽  
Rita Santos Silva ◽  
Carla Costa ◽  
...  
Keyword(s):  
Skin Pigmentation ◽  
Cardiac Myxoma ◽  
Carney Complex ◽  
Pathogenic Variant ◽  
Case Presentation ◽  
Her Family ◽  
Healthy Female ◽  
Life Threatening ◽  
Cardiac Myxomas

Abstract Background Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing’s syndrome (CS). It may occur sporadically or as part of a familial syndrome called Carney complex (CC). It is a rare entity, with fewer than 750 cases reported. Case presentation We describe the case of a 16-year-old otherwise healthy female referred to our endocrinology department for progressive weight gain. During investigation, an adrenocorticotropic hormone (ACTH) independent CS was identified and the possibility of an adrenocortical tumor was suggested. The histological exam of the left adrenal gland was compatible with PPNAD. Genetic study identified a novel pathogenic variant in the PRKAR1A gene. Her family history was then reviewed and her father had died prematurely due to a cardiac myxoma. Besides abnormal skin pigmentation, the girl presented no other features of CC. Conclusions Careful follow-up of these patients is important to detect other manifestations of CC and to prevent life-threatening comorbidities, like cardiac myxomas or malignant diseases. Genetic counseling of the patients and their siblings is also very important.

Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up

2020 ◽  
Vol 105 (3) ◽  
pp. e436-e446
Author(s):  
Stéphanie Espiard ◽  
Marie-Christine Vantyghem ◽  
Guillaume Assié ◽  
Catherine Cardot-Bauters ◽  
Gerald Raverot ◽  
...  
Keyword(s):  
Prospective Study ◽  
Cardiac Myxoma ◽  
Carney Complex ◽  
Prospective Multicenter Study ◽  
Mild Phenotype ◽  
Cardiac Myxomas ◽  
Term Management ◽  
Adrenal Disease

Abstract Introduction Carney Complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome. Manifestations and genotype-phenotype correlations have been described by retrospective studies, but no prospective study evaluating the occurrence of the different manifestations has been available so far. Methods This multicenter national prospective study included patients with CNC, primary pigmented nodular adrenal disease (PPNAD), or a pathogenic PRKAR1A mutation; after a full initial workup, participants were followed for 3 years with annual standardized evaluation. Results The cohort included 70 patients (50 female/20 male, mean age 35.4 ± 16.7 years, 81% carrying PRKAR1A mutation). The initial investigations allowed identification of several manifestations. At the end of the 3-year follow-up, the newly diagnosed manifestations of the disease were subclinical acromegaly in 6 patients, bilateral testicular calcifications in 1 patient, and cardiac myxomas in 2 patients. Recurrences of cardiac myxomas were diagnosed in 4 patients during the 3-year follow-up study period. Asymptomatic abnormalities of the corticotroph and somatotroph axis that did not meet criteria of PPNAD and acromegaly were observed in 11.4% and 30% of the patients, respectively. Patients carrying the PRKAR1A c.709-7del6 mutation had a mild phenotype. Conclusion This study underlines the importance of a systematic follow-up of the CNC manifestations, especially a biannual screening for cardiac myxoma. By contrast, regular screening for the other manifestations after a first extensive workup could be spread out, leading to a lighter and more acceptable follow-up schedule for patients. These are important results for recommendations for long-term management of CNC patients.

Atypical Left Ventricular Myxoma: Unusual Echocardiographic and Histopathological Features

2018 ◽  
Vol 11 (4) ◽  
pp. NP129-NP131
Author(s):  
Sushil Azad ◽  
Nilanjan Dutta ◽  
Kuntal Roy Chowdhuri ◽  
Tarun Raina Ramman ◽  
Nishit Chandra ◽  
...  
Keyword(s):  
Hydatid Cyst ◽  
Histopathological Examination ◽  
Cardiac Myxoma ◽  
Surgical Excision ◽  
Interatrial Septum ◽  
Left Ventricular ◽  
Cardiac Tumors ◽  
Complete Surgical Excision ◽  
Vascular Proliferation ◽  
Cardiac Myxomas

Cardiac myxomas are the most common primary cardiac tumors and are typically attached to the interatrial septum. Left ventricular myxomas are exceedingly rare and presentation in children is all the more uncommon. We report a case of left ventricular myxoma with very atypical cystic appearance raising an initial suspicion of a hydatid cyst. Subsequently, cardiac magnetic resonance imaging was done, which ruled out the diagnosis of hydatid cyst. Complete surgical excision was done through transaortic and transmitral route. Histopathological examination revealed it to be a cardiac myxoma with vascular proliferation, which on echocardiography had appeared as a polycystic lesion. This is a very unusual histopathological presentation of cardiac myxoma.

scholarly journals Thymic pathology and cardiac myxomas: Coincidence or a closer relationship?

2018 ◽  
Vol 88 (1) ◽  
Author(s):  
Sotirios D. Moraitis ◽  
Apostolos C. Agrafiotis ◽  
Dimitrios Pappas ◽  
Chrysovalantis Pothitakis ◽  
Maria Stergianni ◽  
...  
Keyword(s):  
Left Atrium ◽  
Cardiac Myxoma ◽  
Anterior Mediastinum ◽  
Thymus Gland ◽  
Thymic Hyperplasia ◽  
Cardiac Tumors ◽  
Cardiac Myxomas ◽  
Thymic Tumors

Myxomas are the most common benign cardiac tumors and are located more frequently in the left atrium. In the literature there are cases describing the coexistence of thymic tumors and cardiac myxomas. In the case reported herein, during the resection of a cardiac myxoma, an enlarged thymus gland was encountered and resected. The histological exam revealed a thymic hyperplasia. The aim of this case study is to assess the need of conducting further studies in order to identify a common histological pathway between thymic lesions and cardiac myxomas. The diagnosis of a cardiac myxoma could justify a further workup of the anterior mediastinum in order not to overlook a lesion of thymic origin.

scholarly journals Clinical characteristics and management of growth hormone excess in patients with McCune–Albright syndrome

2017 ◽  
Vol 176 (3) ◽  
pp. 295-303 ◽  
Author(s):  
Yong Yao ◽  
Yang Liu ◽  
Linjie Wang ◽  
Kan Deng ◽  
Hongbo Yang ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Complete Remission ◽  
Clinical Manifestations ◽  
Tolerance Test ◽  
Oral Glucose ◽  
Somatostatin Analogue ◽  
Preoperative Treatment ◽  
Retrospective Clinical Study ◽  
Albright Syndrome ◽  
Gh Excess

Objective McCune–Albright syndrome (MAS) is a sporadic, postzygotic disease presenting with fibrous dysplasia, cafe-au-lait spots and multiple endocrinopathies. Growth hormone (GH) excess is an uncommon but potentially severe complication of MAS. This study aims to describe the clinical manifestations of GH excess in the context of MAS and analyze the responses of these patients to treatments. Design Retrospective clinical study. Methods Clinical data from 52 MAS patients were analyzed. Serum GH and IGF1 levels, as well as nadir GH levels after an oral glucose tolerance test and alkaline phosphatase (ALP) levels were determined before and after the treatment. Results In total, 13 MAS patients (25%) had the complication of GH excess, including 10 males (76.9%). Among them, all had FD, and 6 patients had sphenoidal bone involvement. Visual deficits were present in 8 patients, and hearing deficits were present in 5. Olfactory dysfunction was observed in 3 patients. Evident pituitary adenomas were confirmed in 9 patients by MRI. These patients underwent surgery with or without pretreatment of long-acting somatostatin analogue octreotide, and 6 achieved complete remission. The serum ALP levels decreased significantly after treatment for GH excess. Conclusions MAS with GH excess is more common in male patients. GH excess can lead to more severe skeletal lesions in MAS patients involving more of the craniofacial bones. Complete trans-sphenoidal complete tumor excision with neuronavigational guidance is effective and could lower ALP levels. LAR is recommended as a preoperative treatment and when patients fail to achieve complete remission after surgery.

scholarly journals Left Atrial Myxoma with Tricuspid Regurgitation: Pathophysiology, Diagnostic Approach, and Management

2015 ◽  
pp. 28-3
Author(s):  
Prima Almazini ◽  
Bambang Budi Siswanto ◽  
Nani Hersunarti ◽  
Rarsari Soerarso ◽  
Amiliana M Soesanto
Keyword(s):  
Cardiac Myxoma ◽  
Clinical Manifestations ◽  
Definitive Treatment ◽  
Surgical Removal ◽  
Cardiac Tumors ◽  
Gold Standard Method ◽  
Left Atrial Myxoma ◽  
Associated Conditions ◽  
Cardiac Myxomas ◽  
Primary Cardiac Tumors

Cardiac myxomas are the most common primary cardiac tumors. Myxoma are more common in women. Clinical manifestations can mimic many cardiac and noncardiac conditions. Transthoracic echocardiography (TTE) is the gold standard method in the diagnosis of cardiac myxoma. The management of cardiac myxoma are medical therapy for the treatment of associated conditions and surgical removal as the definitive treatment.

scholarly journals SUN-714 Phenotype of Patients Carrying the c.709(-7-2)del PRKAR1A Mutation in a Large Cohort of 41 Patients

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Fatimetou Abderrahmane ◽  
Gerald Raverot ◽  
Herve Lefebvre ◽  
CARDOT Catherine ◽  
Marie-Christine Vantyghem ◽  
...  
Keyword(s):  
Hot Spot ◽  
Cardiac Myxoma ◽  
Real Life ◽  
Tolerance Test ◽  
Carney Complex ◽  
Biological Evaluation ◽  
Oral Glucose ◽  
Cardiac Ultrasound ◽  
Index Cases

Abstract Objective: The Carney Complex (CNC) is a multiple endocrine and non endocrine neoplasia, mostly due to PRKAR1A mutations. The PRKAR1A mutation c.709(-7-2)del located in the intron 7 is one of the three known hot spot. The objective of this study is to described the CNC manifestations presented by patients harboring the c.709(-7-2)del. Methods: This study is a multicenter retrospective longitudinal study. Patients data have been collected from medical files. Multicenter retrospective study. Age at the diagnosis or at the screening of the different CNC manifestations is described by mean +/- standard deviation or median (interquartile) according to the distribution. Results: 41 patients [14 index cases and 37 relatives, 29 females, 43.6 ±14.3 years old (yo)] from 15 families have been included. 58% of the cohort including the 14 index cases presented with a primary pigmented adrenal disease (PPNAD) at 24-yo (18-40). For the remaining 17 patients, only 3 patients had normal glucocorticoid biological evaluation while others presented with subclinical hypercortisolism diagnosed at 35-yo (22-50). 7% of the cohort had an abnormal IGF1 and/or GH after oral glucose tolerance test while other patients had normal evaluation with a last test performed at 41 ±15yo. 22% of patients presented with lentigines diagnosed at 43yo (24-51) while others had no dermatological lesions at the last examination performed at 37 ±14yo. 13% of patients had thyroid nodules or papillary carcinoma diagnosed at 46 ±15yo (normal ultrasound for others at 37 ±15yo). At the last cardiac ultrasound, pituitary magnetic resonance imaging (MRI), spine MRI, testicular ultrasound, mammography performed at 40±15yo, 37.9±14.3yo, 46±12yo, 35±13yo and 48±12yo, no patient had cardiac myxoma, pituitary adenoma, schwannoma, testicular calcifying tumor or breast myxoma. Overall, 52% of the relatives did not have any manifestations of the disease. Penetrance of the disease is 65%. Conclusion: The phenotype of patients carrying the c.709(-7-2)del PRKAR1A mutation is restricted to PPNAD, lentigines, fluctuating somatotroph anomalies and thyroid tumors. Follow-up of these patients should also be individualized from other CNC patients. Imaging, especially repeated cardiac ultrasound may not be needed to follow these patients The results of this real life study will be useful to elaborate further recommendation for follow-up of CNC patients.

scholarly journals Cardiac myxoma: The influence of preoperative clinical presentation and surgical technique on late outcome

2007 ◽  
Vol 135 (7-8) ◽  
pp. 401-406
Author(s):  
Aleksandar Mikic ◽  
Biljana Obrenovic-Kircanski ◽  
Mladen Kocica ◽  
Mile Vranes ◽  
Vesna Lackovic ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Clinical Presentation ◽  
Cardiac Myxoma ◽  
Surgical Techniques ◽  
Right Atrial ◽  
Functional Improvement ◽  
Primary Tumors ◽  
Cardiac Myxomas ◽  
The Right

Introduction Cardiac myxomas are the most frequent primary tumors of the heart in adults, and they can be found in each of four cardiac chambers. Although biologically benign, due to their unfavorable localization, myxomas are considered "functionally malignant" tumors. Diagnosis of cardiac myxoma necessitates surgical treatment. Objective To analyze: 1) the influence of localization, size and consistency of cardiac myxomas on preoperative symptomatology; 2) the influence of different surgical techniques (left, right, biatrial approach, tumor basis solving) on early, and late outcomes. Method From 1982 to 2000, at the Institute for Cardiovascular Diseases, Clinical Center of Serbia, there were 46 patients with cardiac myxomas operated on, 67.4% of them women, mean age 47.1?16.3 years. The diagnosis was made according to clinical presentation, electrocardiographic and echocardiographic examinations and cardiac catheterization. Follow-up period was 4-18 (mean 7.8) years. Results In 41 (89.1%) patients, myxoma was localized in the left, while in 5 (10.9%), it was found in the right atrium. Average size was 5.8?3.8 cm (range: 1?1 cm to 9?8 cm) and 6?4 cm (range: 3?2 cm to 9?5 cm) for the left and right atrial myxomas, respectively. A racemous form predominated in the left (82.6%) and globous in the right (80%) atrium. Fatigue was the most common general (84.8%) and dyspnoea the most common cardiologic symptom (73.9%). Preoperative embolic events were present in 8 patients (4 pulmonary, 4 systemic). In our series: 1) different localization, size and consistency had no influence on the preoperative symptomatology; 2) surgical treatment applied, regardless of different approaches and basis solving, resulted in excellent functional improvements (63.1% patients in NYHA III and IV class preoperatively vs. 6.7% patients postoperatively) and had no influence on new postoperative rhythm disturbances (8.7% patients preoperatively vs. 24.4% patients postoperatively); 3) early (97.8%), and late survival rates (91.3%) were excellent; 4) there were no relapses during the follow-up period. Conclusion Localization, size and consistency had no influence on the preoperative symptomatology. Excellent survival rate with significant functional improvement, rare postoperative complications and no recurrences, justify the applied strategies of surgical approach and tumor basis solving in our series.

scholarly journals Cardiac Myxoma- Surgical treatment and outcome

2015 ◽  
Vol 11 (2) ◽  
pp. 27-30
Author(s):  
D Jaypal Reddy ◽  
Bijay Sah
Keyword(s):  
Malignant Tumors ◽  
Nyha Class ◽  
Cardiac Myxoma ◽  
Malignant Neoplasms ◽  
Class Iii ◽  
Complete Excision ◽  
Fourth Decade ◽  
History Of ◽  
Cardiac Myxomas

Background & Objectives: Cardiac Myxomas include benign and malignant neoplasms, arising within the cardiac chambers or in the myocardium. Because, it is a rare tumor of the heart, there seems a lack of adequate data and its recent optimal treatment for both benign and malignant tumors is limited.Materials & Methods: Literature was searched for review and prospective study of cardiac myxoma surgery done between August 1990 and February 1996 was presented. A total of six patients underwent surgery for cardiac myxoma. All patients (five female; one male) underwent complete excision of the tumor and none of them showed features of remission after six month follow-up.Results: Cardiac Myxoma is a rare disease and it most commonly occurs in the fourth decade of life. Out of six patients operated, five were female and one was male and the age of the patients was between 22 and 50 years (mean age 31). The location of tumors was: LA myxoma in five cases, RA myxoma in one case. Preoperative symptoms were dyspnea (NYHA class III) in four cases, orthopnea in two cases, postural giddiness or syncope in three cases, palpitation in two cases and chest pain in two cases. The mean duration of onset of symptoms to diagnosis was eight months. Echocardiography showed abnormalities in all six cases including mitral stenosis in five cases, and tricuspid stenosis in one case. No recurrence was noted after six months of follow-up after the surgery.Conclusion: Cardiac myxoma is considered an emergency condition which needs urgent procedure, particularly if the patient has a history of embolism or syncope. Atrial Myxoma tends to have more secondary scenarios by embolization.JCMS Nepal. 2015; 11(2):27-30

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