Identification of a PRKAR1A mutation (c.491_492delTG) in familial cardiac myxoma
نویسندگان
چکیده
منابع مشابه
Recurrent somatic mutations of PRKAR1A in isolated cardiac myxoma
Background Cardiac myxomas are benign tumors that commonly arise within the left atria. Familial cardiac myxomas are a part of Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome caused by germline mutations in PRKAR1A. Seven percent of cardiac myxomas are associated with CNC. To date, the genetic basis of isolated cardiac myxomas (ICM), however, has not been fully elucidate...
متن کاملRare association of acromegaly with left atrial myxoma in Carney's complex due to novel PRKAR1A mutation
UNLABELLED Carney complex (CNC) is a rare autosomal dominant syndrome characterized by pigmented lesions of the skin and mucosae along with cardiac, endocrine, cutaneous, and neural myxomatous tumors. Mutations in the PRKAR1A gene have been identified in ∼70% of the CNC cases reported worldwide. A 30-year-old male was referred to the endocrinology clinic with suspected acromegaly. He had a hist...
متن کاملFamilial cardiac myxoma. A study of relatives of patients with myxoma.
PURPOSE Cardiac myxomas are rare benign tumors of the heart. Although most cases are sporadic, rare familial occurrence has been described. The aim of this study was to evaluate tumor involvement in family members of patients with cardiac myxoma and to compare familial vs nonfamilial cardiac myxoma in relation to age, sex, site and multichamber involvement, endocrine abnormality, embolism, pres...
متن کاملNovel Mutation in PRKAR1A in Carney Complex
A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase...
متن کاملCardiac Myxoma, a Rare But Most Common Encountered Cardiac Tumor: A Single Center Experience
Introduction: Cardiac myxoma is a benign and rare tumor, which can present with a grim phenomenon if the presentation is late or the diagnosis and surgery are delayed. The purpose of this study was to share our institutional experience of cardiac myxoma. Material and Methods: This retrospective study was conducted to evaluate patients undergoing procedures at a single tertiary care centre for t...
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ژورنال
عنوان ژورنال: Medicine
سال: 2019
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000014866