Familial recurrent atrial myxoma: Carney's complex.

Abstract:

:We report on a family of 4 members, all of whom have had multifocal, recurrent atrial myxomas associated with skin pigmentation, melanotic schwannomas, mucocutaneous myxomas, and tumors of the ovary and pituitary, adrenal, and thyroid glands. Immunochemistry of the myxoma cells is positive for calretinin, confirming their neuroendocrine origin. Genetic studies confirmed mutations in the gene coding protein kinase A, regulatory subunit 1-α (PRKAR1α). This is Carney's complex, characterized by multiple, mucocutaneous myxomas; pigmented lesions over the lips, conjunctiva, and genitalia; adenomas of the breast and thyroid; schwannomas; and endocrinal abnormalities including Cushing syndrome and acromegaly. Members of the family require vigorous screening, including urinary free cortisol, plasma transforming growth factor-β(1) and thyrotropin-releasing hormone, testicular ultrasound, routine echocardiographic screening, searches for cardiac and mucocutaneous myxomas in multiple locations, and genetic studies for the PRKAR1α gene sequence.

journal_name

Clin Cardiol

journal_title

Clinical cardiology

authors

Shetty Roy AN,Radin M,Sarabi D,Shaoulian E

doi

10.1002/clc.20845

subject

Has Abstract

pub_date

2011-02-01 00:00:00

pages

83-6

issue

2

eissn

0160-9289

issn

1932-8737

journal_volume

34

pub_type

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