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Carney complex cardiac myxoma

I-Ching Tseng, Wei-Ju Huang, Yu-Ling Jhuang, Ya-Yun Chang, Hung-Pin Hsu, Yung-Ming Jeng
Cardiac myxoma is the most common cardiac tumour. Most lesions occur sporadically, but occasional lesions develop in patients with Carney complex, a syndrome characterized by cardiac myxoma, spotty pigmentation, and endocrine overactivity. Two-thirds of patients with Carney complex harbour germline mutations in PRKAR1A, which encodes the type I regulatory subunit of protein kinase A (PKA). Most studies have not found a mutation in PRKAR1A in sporadic cardiac myxoma cases. Recent studies identified frequent mutations in PRKACA, which encodes the catalytic subunit of PKA, in cortisol-secreting adrenocortical adenoma cases...
June 2017: Journal of Pathology
Campbell Schmidt, Atsuo Doi, Masashi Ura, Chris Cole, Julie Mundy
Carney complex accounts for up to two-thirds of familial cardiac myxoma. It is a rare autosomal dominant syndrome, which is also characterized by multiple mucocutaneous lesions and endocrine tumors. We report on three first-degree relatives who underwent surgical resection at the same Australian tertiary institution. One patient re-presented with a recurrent tumor at an interval of 6 years. In this context, the role of interval surveillance, family screening, and genetic testing is explored. We recommend interval echocardiographic surveillance for affected individuals and first-degree relatives given the high risk of recurrence and the morbidity and mortality associated with cardiac tumors in any location...
March 29, 2017: Annals of Thoracic and Cardiovascular Surgery
W Patricia Bandettini, Alexander S Karageorgiadis, Ninet Sinaii, Douglas R Rosing, Vandana Sachdev, Marie Helene Schernthaner-Reiter, Evgenia Gourgari, Georgios Z Papadakis, Meg F Keil, Charalampos Lyssikatos, J Aidan Carney, Andrew E Arai, Maya Lodish, Constantine A Stratakis
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)...
September 2016: Endocrine-related Cancer
Judith Ng, David G Munoz
A 20-year-old woman presenting with a pelvic mass identified as a psammomatous melanotic schwannoma (PMS) with atypical histological features was later found to have family history of cardiac myxomas consistent with Carney's complex. The BRAF V600E mutation was absent in the tumor.
November 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Labrini Papanastasiou, Stelios Fountoulakis, Nikos Voulgaris, Theodora Kounadi, Theodosia Choreftaki, Akrivi Kostopoulou, George Zografos, Charalampos Lyssikatos, Constantine A Stratakis, George Piaditis
OBJECTIVE: Carney complex (CNC) is a rare autosomal dominant multiple neoplasia syndrome characterized by the presence of endocrine and non-endocrine tumors. More than 125 different germline mutations of the protein Kinase A type 1-α regulatory subunit (PRKAR1A) gene have been reported. We present a novel PRKAR1A gene germline mutation in a patient with severe osteoporosis and recurrent vertebral fractures. DESIGN: Clinical case report. CASE REPORT: A 53-year-old male with a medical history of surgically removed recurrent cardiac myxomas was evaluated for repeated low-pressure vertebral fractures and severe osteoporosis...
January 2016: Hormones: International Journal of Endocrinology and Metabolism
S Kellner, D Beug, K Empen, S B Felix, A Hummel
Multiple skin lesions, endocrine dysfunction and cardiac myxomas are characteristic symptoms of Carney complex. This case report gives an overview about the major and minor criteria of Carney complex and presents the course of a female patient who developed severe cardiac insufficiency with multiple organ failure because of recurring heart operations leading to implantation of a left ventricular assist device (LVAD).
September 2016: Der Internist
Alexandra Meurgey, Roland Henaine, Patrice Bouvagnet, Lara Chalabreysse
Primary cardiac tumors are extremely rare and mainly benign. The majority of these are myxomas (40%). Myxoma are generally sporadic tumors which occur most commonly in adult females between 30 and 40 years, and are seldom found in the paediatric population (5%). Seven percent are associated with igenetic diseases. We report the case of an eight-year-old boy presenting a recurrent glandular cardiac myxoma. In 2011, he presented a deterioration of the general state. An echocardiography highlighted a left atrial mass on the interatrial septum, with a pedicular insertion...
June 2016: Annales de Pathologie
Neharika Sharma, Stephen O'Hagan, Gael Phillips
BACKGROUND: Conjunctival myxomas are rare, benign, connective tissue tumours that classically present as slow-growing, painless, well-circumscribed masses (Arch Ophthalmol 124:735-8, 2006; Case Rep Ophthalmol 3:145-50, 2012). There have been 29 cases reported in the literature (Arch Ophthalmol 124:735-8, 2006; Malays J Med Sci 20(1):92-4, 2013; Case Rep Ophthalmol 3:145-50, 2012; Middle East Afr J Ophthalmol 19(3):353-3, 2012). We present a case with atypical features, and emphasize the importance of excisional biopsies for diagnosing indeterminate conjunctival lesions...
May 13, 2016: BMC Ophthalmology
Shohei Kataoka, Masato Otsuka, Masayuki Goto, Mitsuru Kahata, Asako Kumagai, Koji Inoue, Hiroshi Koganei, Kenji Enta, Yasuhiro Ishii
Cardiac tumors are rare, and multiple myxomas are even rarer. The latter phenomenon is mostly associated with the Carney complex, a dominantly inherited disease characterized by multiple primary cardiac myxomas, endocrinopathy, and spotty pigmentation of the skin. We report the rare case of a patient who did not have the Carney complex but had multiple primary cardiac tumors. A 78-year-old woman with a past history of breast cancer was referred to our hospital for further examination of multiple cardiac tumors...
March 2016: Journal of Cardiovascular Ultrasound
O Young Kwon, Gun Jik Kim, Woo Sung Jang, Young Ok Lee, Jun Yong Cho, Jong Tae Lee
Although cardiac myxoma is the most commonly encountered benign cardiac tumor in cardiac surgery practice, recurrent cardiac myxoma is very rare, is most commonly related to the Carney complex, and usually requires multiple cardiac operations with specific requirements in terms of perioperative management. In this report, we describe a patient who experienced the fourth recurrence of cardiac myxoma and review the diagnostic criteria of the Carney complex. This is the first report of such a case in Korea.
April 2016: Korean Journal of Thoracic and Cardiovascular Surgery
Hyunchul Kim, Hyun-Yee Cho, Jeong Nam Lee, Kook-Yang Park
No abstract text is available yet for this article.
July 2016: Journal of Pathology and Translational Medicine
H Guo, H Xiong, Z Li, J Xu, H Zhang, X Chen, S Hu
This study was aimed to investigate the clinical features and mutations in the PRKAR1A gene of a multigenerational kindred including 17 individuals at risk for Carney complex. Eight patients were diagnosed with Carney complex among the 17 individuals (47.1%). Among the 8 affected patients, 4 had cardiac myxomas, 8 had skin pigmentation, and 3 had diabetes. Genomic DNA sequencing in 14 surviving patients showed 6 had the same germline mutation in the sixth intron and affected the splice site. cDNA sequencing and DNAMAN software showed 159 bases were absent, resulting in the absence of the amino acids 249 to 301 from the protein...
June 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Yunpeng Sun, Xia Chen, Jingnan Sun, Xue Wen, Xuguang Liu, Yanli Zhang, Andrew R Hoffman, Ji-Fan Hu, Yongsheng Gao
BACKGROUND: Carney complex (CNC) is an autosomal dominant inherited disease, characterized by spotty skin pigmentation, cardiac and cutaneous myxomas, and endocrine overactivity. We report on a Chinese CNC family with a novel mutation in the protein kinase A regulatory subunit 1 (PRKAR1A) gene. METHODS: Target-exome sequencing was performed to identify the mutation of PRKAR1A in 2 members of the CNC family. RESULTS: The proband was a young man with typical CNC, including pigmentation, cutaneous myxomas, cardiac myxoma, Sertoli cell tumour of his left testis, and multiple hypoechoic thyroid nodules...
November 2015: Canadian Journal of Cardiology
Piotr Weryński, Dominika Januś, Mirosława Dudyńska, Grażyna Drabik, Jerzy B Starzyk, Janusz Skalski, Andrzej Rudziński
Cardiac tumors in infants and children are rare. Myxomas are the second (after rhabdomyomas) most common primary cardiac tumors in pediatric patients. Cardiac, cutaneous and mucous myxomas are likewise the second most frequent manifestation of the Carney complex, an autosomal dominant multi neoplasia syndrome, which consists of myxomas in different locations, spotty skin pigmentation and endocrine overactivity. We present a case of 13-years-old boy send to our department from a district hospital because of the large tumor in the right atrium discovered in the echo study...
2015: Neuro Endocrinology Letters
Ricardo Correa, Paraskevi Salpea, Constantine A Stratakis
Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas)...
October 2015: European Journal of Endocrinology
Juan A Siordia
Carney complex is a rare, autosomal dominant genetic disorder that consists of multiple myxomatous lesions and endocrine abnormalities, including skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical disease, and acromegaly. This review discusses the medical and surgical treatment of patients with Carney complex.
July 2015: Journal of Cardiac Surgery
Hongwei Guo, Jianping Xu, Hui Xiong, Shengshou Hu
Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in related Chinese patients with a c.491_492delTG mutation that presented with multiple and extensive cardiac myxomas and skin pigmentation...
2015: World Journal of Surgical Oncology
Sonia Jain, Joseph J Maleszewski, Christopher R Stephenson, Kyle W Klarich
Cardiac myxoma is the most common cardiac neoplasm. In the majority of cases, it is isolated (non-syndromic) and located in the left atrium. In up to 10% cases, it is seen in syndromic association with the Carney complex where it is encountered in younger patients, with atypical and multiple locations, such as the right atrium or ventricles, and carries a high risk of recurrence. Imaging is pivotal in the diagnosis, management guidance and surveillance. Surgical excision is the established definitive treatment...
April 2015: Expert Review of Cardiovascular Therapy
Hongwei Guo, Jianping Xu, Hui Xiong, Shengshou Hu
Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in related Chinese patients with a c.491_492delTG mutation that presented with multiple and extensive cardiac myxomas and skin pigmentation...
December 2015: World Journal of Surgical Oncology
Genevieve Staudt, William Camann
Carney complex is an autosomal dominant condition with widespread manifestations, including cardiac myxomas, nerve sheath tumors, and endocrinopathies. Although often associated with infertility, there are several reports of successful pregnancies in patients with Carney complex. However, none of the previous reports describe anesthetic considerations. Herein, we present a patient with Carney complex who successfully delivered vaginally with labor epidural analgesia.
January 1, 2015: A & A Case Reports
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