carney’s complex is a rare autosomal dominantly inherited multiple endocrine neoplasia syndrome that involves spotty skin pigmentations, recurrent cardiac myxomas, endocrine hyperactivity, pituitary adenomas, peripheral nerve tumors, testicular tumors, and ovarian lesions. we present a case of sudden cardiac death in a 40 year old female with a history of carney’s complex with recurrent cardiac...

1. Ataxia Telangiectasia (includes Ataxia Telangiectasia 12 Complementation Groups A, C, D, E, Louis–Barr Syndrome) 2. Basal Cell Nevus Syndrome, Nevoid Basal Cell 18 Carcinoma Syndrome, or Gorlin Syndrome 3. Beckwith–Wiedemann Syndrome 19 (Exomphalos–Macroglossia–Gigantism Syndrome) 4. Birt–Hogg–Dubé Syndrome 20 5. Bloom Syndrome 21 6. Breast/Ovarian Cancer, Hereditary (BRCA1) 22 7. Breast/Ova...

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...

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 endocr...

Carney complex is a multiple endocrine neoplasia (MEN) syndrome that affects the adrenal cortex, the pituitary and thyroid glands, and the gonads. The complex is also associated with skin and mucosa pigmentation abnormalities and myxoid and other neoplasms of mesenchymal and neural crest origin. Thus, this syndrome also belongs to another group of genetic disorders, the lentiginoses (or lentige...

The study involved 63 patients with an echocardiographic, surgical and histopathologic diagnosis of cardiac myxoma who were seen over a period of 20 years. Tumor recurrence or relapse was documented in five of these patients (7.9%), 3 of whom had a confirmed diagnosis of Carney complex, while one other patient had a probable diagnosis. Genetic studies demonstrated abnormalities in the PRKAR1A g...

abstract men-i is a rare genetic disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary gland, and pancreatic islet cells. we present a case of men-i syndrome diagnosed using predominantly nuclear medicine imaging followed by radionuclide therapy, thus emphasizing the role of nuclear imaging in diagnosing and treating men-i.