A novel 8.57‐kb deletion of the upstream region of PRKAR1A in a family with Carney complex
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1884
Abstract: Carney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and PRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we… read more here.
Keywords: deletion; region prkar1a; region; cnc ... See more keywords
Recurrence of cardiac myxoma in the right atrium with Carney complex following resection of myxomas in both ventricles
Sign Up to like & getrecommendations! Published in 2018 at "General Thoracic and Cardiovascular Surgery"
DOI: 10.1007/s11748-018-0984-0
Abstract: 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… read more here.
Keywords: right atrium; myxoma right; myxomas ventricles; carney complex ... See more keywords
Palatal Soft Tissue Myxoma in a Patient with Carney Complex
Sign Up to like & getrecommendations! Published in 2020 at "Head and Neck Pathology"
DOI: 10.1007/s12105-020-01241-0
Abstract: Carney complex (CNC) is a rare, autosomal dominant multiple neoplasia syndrome. Although cutaneous myxomas commonly occur in CNC patients, intraoral myxomas are extremely rare. We present a case of a palatal myxoma in a 21-year-old… read more here.
Keywords: myxoma; soft tissue; tissue myxoma; carney complex ... See more keywords
Recurrent multi-cameral cardiac myxomas in a child with Carney complex.
Sign Up to like & getrecommendations! Published in 2023 at "Cardiology in the young"
DOI: 10.1017/s1047951122003961
Abstract: Cardiac myxoma is a relatively rare tumour, usually solitary, that occurs primarily in the left atrium of adults, but comprises only 30% of cardiac tumours in children. We recently treated a 12-year-old girl with multiple… read more here.
Keywords: myxomas; recurrent multi; multi cameral; carney complex ... See more keywords
Clinical features and surgical results of cardiac myxoma in Carney complex
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cardiac Surgery"
DOI: 10.1111/jocs.13980
Abstract: We sought to analyze clinical features and surgical results of 10 cases of cardiac myxomas in Carney complex (CNC). read more here.
Keywords: clinical features; carney complex; surgical results; features surgical ... See more keywords
Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-241886
Abstract: A 39-year-old woman was referred to the cancer genetics outpatient clinic for a clinical diagnosis of Carney complex (CNC) in her deceased brother. The patient had some characteristic clinical features such as periorbital lentigines and… read more here.
Keywords: pathogenic mutation; case; carney complex; novel pathogenic ... See more keywords
Harvey Cushing Treated the First Known Patient With Carney Complex
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2017-00283
Abstract: Context: Carney complex (CNC) is a syndrome characterized by hyperplasia of endocrine organs and may present with clinical features of Cushing syndrome and acromegaly due to functional adrenal and pituitary gland tumors. CNC has been… read more here.
Keywords: carney complex; cnc; harvey cushing; cushing treated ... See more keywords
SUN-369 Challenges in Diagnosing and Managing PPNAD in a Patient with Carney Complex
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-sun-369
Abstract: Abstract Background Carney complex (CNC) is a rare disorder associated with endocrine, cardiac, cutaneous and neural tumors. Primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine manifestation in patients with CNC and can… read more here.
Keywords: cnc; unilateral adrenalectomy; carney; carney complex ... See more keywords
Carney complex: Two case reports and review of literature
Sign Up to like & getrecommendations! Published in 2018 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v6.i14.800
Abstract: Carney complex (CNC) is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyperfunction and myxoma. Given its diverse clinical manifestations, CNC is often misdiagnosed. Recognition of some special clinical manifestations and imaging features… read more here.
Keywords: carney complex; review literature; complex two; case reports ... See more keywords
Fourth Recurrence of Cardiac Myxoma in a Patient with Carney Complex
Sign Up to like & getrecommendations! Published in 2023 at "Anatolian Journal of Cardiology"
DOI: 10.14744/anatoljcardiol.2022.2849
Abstract: A 54-year-old male with previously known diagnosis of Carney complex and acromegaly was admitted with exertional dyspnea, chest pain, and palpitation. He had a prominent jaw and painless swelling of temporal part of the right… read more here.
Keywords: cardiac myxoma; myxoma patient; recurrence cardiac; fourth recurrence ... See more keywords
Carney complex due to a novel pathogenic variant in the PRKAR1A gene – a case report
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2018-0199
Abstract: 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… read more here.
Keywords: variant prkar1a; endocrinology; pathogenic variant; case ... See more keywords