China
Africa
Explore chapters and articles related to this topic
Cardiac Masses
Published in Takahiro Shiota, 3D Echocardiography, 2020
Sonia Velasco del Castillo, Miguel Angel García-Fernández
Patients may be asymptomatic or debut with embolic or obstructive phenomena (dyspnea, dizziness/syncope) because the tumor tends to grow inside the atrium and may prolapse in the left ventricle during the diastole. It may also be accompanied by a general syndrome with fever and weight loss. Familial myxomas constitute less than 10% of all myxomas.5 The Carney complex is a syndrome with autosomal dominant inheritance that includes cardiac and noncardiac myxomas (at earlier age and more recurrent), schwannomas, and other endocrine tumors with anomalies in skin pigmentation.
Carney Complex
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Carney complex shows autosomal dominant inheritance, and affected females are almost fivefold more likely to transmit the disorder than males. The fact that males often develop large cell calcified Sertoli cell tumors (LCCSCT), which may cause infertility, helps partly explain for the female dominance among CNC patients. Approximately 80% of CNC cases have a familial history, and the remaining 20% are due to de novo germline mutation [1,2].
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
Cushing syndrome can be iatrogenic, due to a corticotrophin releasing hormone (CRH)-or ACTHsecreting tumour (either in the pituitary gland or due to ectopic secretion of the stimulating hormone), ACTH-independent Cushing syndrome due to adrenal neoplasms or nodular adrenal hyperplasia. This may be familial, as in the Carney complex (bilateral micronodular adrenal hyperplasia, pigmented lentigines, atrial myxomas and other tumours). Up to 50% of cases of the Carney complex are caused by mutations in the PRKAR1A gene. McCune–Albright syndrome (see page 393) can also lead to primary adrenal Cushing syndrome.
Primary pigmented nodular adrenocortical disease (PPNAD) as an underlying cause of symptoms in a patient presenting with hirsutism and secondary amenorrhea: case report and literature review
Published in Gynecological Endocrinology, 2018
Ewa Cyranska-Chyrek, Dorota Filipowicz, Ewelina Szczepanek-Parulska, Marta Nowaczyk, Urszula Ambroziak, Sadegh Toutounchi, Łukasz Koperski, Tomasz Bednarczuk, Blazej Meczekalski, Marek Ruchała
The state of hypercortisolism may be caused by exogenous glucocorticoid therapy, being the most common cause, or endogenous hypersecretion of cortisol. The latter is caused either by ACTH-dependent in 80% of patients or in the ACTH-independent mechanism, which is found in the remainder [5,6]. Autonomous excess of cortisol secretion by adrenal glands, apart from frequently observed adrenocortical adenomas or carcinomas, in <1% of patients may be caused by primary pigmented nodular adrenocortical disease (PPNAD). In more than 90% of patients, PPNAD is one of the manifestations of Carney complex (CC), which is a genetic condition characterized with autosomal dominant inheritance and high risk of many neoplasms [7]. However, there were only few cases of non-familial PPNAD not associated with CC described in the literature, mainly in children [8–14].
Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature
Published in International Journal of Neuroscience, 2022
S. Chatzikonstantinou, D. Kazis, P. Giannakopoulou, P. Poulios, O. Pikou, T. Geroukis, C. Lyssikatos, C. A Stratakis, S. Bostanjopoulou
Carney complex (CNC) is a rare multiple neoplasia syndrome primarily caused by mutations in the gene encoding the regulatory subunit type I alpha of protein kinase A (PRKAR1A) [1,2]. The PRKAR1A gene is a tumor suppressor gene and more than 120 different mutations have been reported throughout the coding region (http://PRKAR1A.nichd.nih.gov) [3,4]. Inactivating mutations of the PRKAR1A gene, subject to nonsense-mediated mRNA decay (NMD), leading to RIalpha haploinsufficiency and activated cAMP signaling, are identified as the most common cause of the disease [4–6]. PRKAR1A haploinsufficiency leads to an increase in total cAMP-stimulated kinase activity [7,8].
Isolated intraosseous extra-gnathic orbital myxoma: a clinicopathologic case report
Published in Orbit, 2019
Fairooz P. Manjandavida, Shaifali Chahar, Brijal Dave
Interestingly, myxomas can occur as a localized disease or as components of Carney complex2, Mazabraud syndrome3, and McCune-Albright syndrome. The patient and primary relatives should be examined for a possible manifestation of Carney complex, which has substantial morbidity and mortality because of the occurrence of cardiac myxoma. We did not find any systemic association after detailed evaluation in our patient. Cardiac echo report was also normal.