Table 4.
Clinical presentation of a family with Carney complex (CNC). Three individuals with CNC and three individuals without any clinical symptom of CNC were analyzed for point mutation and large rearrangement of the PRKAR1A gene.
| Patients | Sex (M/F) | Age (years) |
Adrenal disease
(age at diagnosis) |
Myxoma
(age at diagnosis) |
Lentiginosis | Other |
|---|---|---|---|---|---|---|
| I-1 | F | 71 | – | – | – | |
| I-2 | M | 72 | – | Cardiac myxoma (62) Second cardiac myxoma – surgery |
Yes | Died at 72 years old |
| II-2 | F | 52 | ACTH independent Cushing’s syndrome Bilateral adrenalectomy (10) |
Cardiac myxoma (31) Multiple cutaneous myxoma |
Yes | GH pituitary adenoma Breast and uterine adenoma |
| II-3 | M | 43 | – | – | – | |
| III-1 | M | 26 | – | – | – | |
| III-2 | M | 19 | PPNAD Unilateral adrenalectomy (7) |
Cardiac myxoma (30 months) |
Yes | Dorsal myxoma, surgery at 17 years old, probable GH pituitary adenoma currently under evaluation |