Identification of a Novel Genetic Locus for Familial Cardiac Myxomas and Carney Complex
نویسندگان
چکیده
منابع مشابه
Identification of a novel genetic locus for familial cardiac myxomas and Carney complex.
BACKGROUND Intracardiac myxomas are significant causes of cardiovascular morbidity and mortality through embolic stroke and heart failure. In the autosomal dominant syndrome Carney complex, intracardiac myxomas arise in the setting of lentiginosis and other lesions associated with cutaneous hyperpigmentation, extracardiac myxomas, and nonmyxomatous tumors. Genetic factors that regulate cardiac ...
متن کامل[Cardiac myxomas and the Carney complex].
The study involved 63 patients with an echocardiographic, surgical and histopathologic diagnosis of cardiac myxoma who were seen over a period of 20 years. Tumor recurrence or relapse was documented in five of these patients (7.9%), 3 of whom had a confirmed diagnosis of Carney complex, while one other patient had a probable diagnosis. Genetic studies demonstrated abnormalities in the PRKAR1A g...
متن کاملMutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex.
Cardiac myxomas are benign mesenchymal tumors that can present as components of the human autosomal dominant disorder Carney complex. Syndromic cardiac myxomas are associated with spotty pigmentation of the skin and endocrinopathy. Our linkage analysis mapped a Carney complex gene defect to chromosome 17q24. We now demonstrate that the PRKAR1alpha gene encoding the R1alpha regulatory subunit of...
متن کاملA case of familial Carney complex.
Carney complex is a syndrome characterized by skin pigmentation abnormalities, myxomas, endocrine tumors/overactivity, and schwannomas. It is caused by a mutation in the PRKAR1A gene that encodes the enzyme protein kinase A regulatory subunit type 1 alpha. A 23-year old male was diagnosed with Carney complex on the basis of spotty skin lentigines on his face and lips, multiple thyroid neoplasms...
متن کاملPrimary Multiple Cardiac Myxomas in a Patient without the Carney Complex
Cardiac tumors are rare, and multiple myxomas are even rarer. The latter phenomenon is mostly associated with the Carney complex, a dominantly inherited disease characterized by multiple primary cardiac myxomas, endocrinopathy, and spotty pigmentation of the skin. We report the rare case of a patient who did not have the Carney complex but had multiple primary cardiac tumors. A 78-year-old woma...
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ژورنال
عنوان ژورنال: Circulation
سال: 1998
ISSN: 0009-7322,1524-4539
DOI: 10.1161/01.cir.98.23.2560