期刊
JOURNAL OF VASCULAR SURGERY
卷 53, 期 3, 页码 805-807出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jvs.2010.09.064
关键词
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Paraganglionic tumors are rare. A germline mutation responsible for a familial pattern of paragangliomas (PGLs) has been identified on the genes encoding for the subunits of succinate dehydrogenase (SDH). Manifestations of those with a succinate dehydrogenase subunit C (SDHC) germline mutation have been almost exclusively reported as single head and neck paragangliomas (HNPGLs). We present a 32-year-old man with a familial SDHC mutation who manifests synchronous PGLs of the carotid body and the thoracic aortopulmonary window. To our knowledge, this is the first report of such a presentation for this mutation. (J Vase Surg 2011;53:805-7.)
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