Dominant Inheritance of the Complex of Myxomas, Spotty Pigmentation, and Endocrine Overactivity

Cardiac tumors in children- A review

“…Myxoma represents one of the most common benign cardiac tumors; are usually solitary and develop in the atria, 75% originating in the left atrium and 15-20% in the right atrium. They characteristically arise from or near the interatrial septum at the border of the fossa ovalis membrane (Bruce, 2007 Recent nomenclature, however, suggests that they should be brought together under a broader cate-gory of Carney complex, named after the physician who first described the familial nature of this disorder (Carney et al, 1986). Clinical manifestations are legion, both cardiac and systemic.…”

Familial Pituitary Adenomas: An Overview

“…The disease is characterized by spotty skin pigmentations, myxomas, endocrine hyperactivity and schwannomas and since the description of the fi rst cohort of patients in 1985 (Carney et al 1986 ) more than 500 patients have been reported in the largest database (Boikos and Stratakis 2007 ) . Approximately 70% of cases with CNC present in a familial trait with slight female predominance.…”

“…The culprit gene in MEN1, MEN1 , was identi fi ed in 1997 (Chandrasekharappa et al 1997 ) and by 2008 approximately 565 different mutations were reported (Lemos and Thakker 2008 ) . In 1985Carney et al ( 1986 described a new multiple tumour syndrome (CNC) that presented infrequently with familial acromegaly. Genetic research has linked almost 70% of cases with Carney complex to mutations in the gene for type A regulatory subunit of protein kinase A (PRKAR1A) (Kirschner 2010 ) .…”

Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes

“…By 1981, 23 cases of PPNAD (4 from the Mayo Clinic and 19 from the world literature) were available for study; 6 of them involved siblings from two families, one from Cuba and another from Switzerland (17). By 1984, 40 cases were identified, with various combinations of myxomas affecting multiple organs (heart, skin, and breast), spotty skin pigmentation (lentigines and blue nevi), and tumors of three endocrine organs (adrenal, pituitary, and testis) (18). The group had five sets of siblings, adding to the suspicion that the disorder was familial.…”

“…The group had five sets of siblings, adding to the suspicion that the disorder was familial. Shortly afterward, the syndrome, apparently transmitted in a manner consistent with dominant inheritance (18,19), was identified in three generations of a family. Soon, it was realized that "Carney complex" described a clinical syndrome that included a number of associations reported earlier.…”