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Carney Complex: case report and review
© Borkar et al; licensee BioMed Central Ltd. 2011
Received: 15 November 2010
Accepted: 5 March 2011
Published: 5 March 2011
Carney complex is a very rare multiple neoplasia syndrome with cardiac, cutaneous, and neural tumours with a variety of pigmented lesion of skin. We are reporting a rare case of carney complex in which left atrial myxoma with superficial angiomyxoma, giant cell tumour of bone and lentigines showed a unique association. This patient underwent successful surgical excision of left atrial myxoma under cardiopulmonary bypass.
Carney complex is a rare syndrome characterized by neoplasia involving heart, central nervous system and endocrine organs. Presence of pigmented skin and mucosal lesions are an important hallmark of this syndrome. We report a case of left atrial myxoma with giant cell tumor, superficial angiomyxoma and skin pigmentation.
A 47 year old male with one year history of exertional dyspnea & palpitation was admitted with complaints of syncopal attacks of sudden onset. He denied any head ache, chest pain, palpitation, edema legs, persistent fever, weight loss or loss of appetite.
Patient underwent surgical excision of left atrial myxoma under cardiopulmonary bypass through right atrial approach. When a finger was introduced through the right atrial appendage a firm, smooth, egg sized tumour was encountered. The mitral valve was normal in structure and function. It was excised under vision. The patient had an uneventful recovery without neurologic or renal damage with significant relief of clinical symptoms. Follow up Echocardiography after 6 months showed no evidence of any intra cardiac recurrence.
Carney complex as described by J. Aiden Carney in 1985 is an autosomal dominant disorder characterized by neoplasia involving heart, central nervous system and endocrine organs. Presence of pigmented skin and mucosal lesions along with these tumors is an important hallmark of this syndrome [1, 2]. Most cases are familial and the median age of presentation is 20 years. Carney's complex can manifest itself as spotty cutaneous pigmentation, cutaneous myxomas, cardiac myxomas, psammomatous melanotic schwanoma (PMS), acromegaly, large cell calcifying sertoli cell tumour (LCCSCT), thyroid carcinoma or nodule & breast adenoma.
The most recent diagnostic criteria for Carney Complex includes clinical findings such as spotty skin pigmentation, cutaneous and cardiac myxomas, breast myxomatosis, paradoxical positive response of urinary gluco- corticosteroids to dexamethasone administration during liddle's test, acromegaly, Blue nevus, epithelioid blue nevus, osteochondromyxoma, thyroid carcinoma and mutation of the PRKARIA gene etc. .
Lentigines & blue nevi followed by cardiac myxomas are the most common clinical manifestations of the complex. Cardiac myxomas show no age, sex or location preponderance and they are notorious for frequent recurrences . Approximately 7% of all cardiomyxomas occur in association with Carney's complex. Fever, joint pain, palpitations, diastolic murmur in the mitral area and a "tumor plop" is often associated with Carney's complex.
Echo Cardiography can accurately determine the location, size, shape, attachment and mobility of the tumour. Coronary angiography is only advised if coronary artery disease is suspected or if the patient is above 40 years of age . Surgical resection is the treatment of choice and should be pursued immediately once the diagnosis is confirmed .
Histologically, superficial angiomyxoma is characterized by a myxoid lesion with prominent thin walled blood vessels. The usual site for angiomyxoma is dermis and cutis especially in head and neck region . Incomplete excision of superficial angiomyxoma is documented to have high recurrence rates .
Among bone tumours, osteochondromyxoma has been described in literature which affects about 1% patients of Carney complex. These tumors present as painless mass in diaphyses of distal long bones as well as small flat bones. In this case, we report the presence of giant cell tumour in association with Carney complex. This is the first case report of such an association. Complete tumor resection is curative whereas incomplete resection is associated with high rates of recurrence .
At molecular level mutations in chromosome 2 in band p16 and chromosome 17 in bands q22-24 are associated with Carney complex. PRKAR1alpha is a tumor suppressor gene which is found to be mutated in almost 50% of carney complex cases .
This case is the first reported case of Left atrial myxoma, lentigines, superficial angiomyxoma and giant cell tumour of bone in a middle aged patient.
Written and informed consent obtained for publication of this case report and accompanying images. A copy of the written consent is available for review by editor- in- chief of this journal
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