title: Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation.
abstract: Primary cardiac paragangliomas are extremely rare. Recently this neoplasm has been associated with a familiar syndrome as a result of mutation of genes that encode proteins in the mitochondrial complex II. We report a case of a 46-year-old woman having cases of vertebral paraganglioma in her family showing an unusual anatomic and clinical presentation of cardiac paraganglioma and expressing a genetic mutation never associated before with cardiac localization of this neoplasm.
authors.affiliation: Cardiac Surgery Division, Lancisi Cardiological Hospital, Ancona, Italy. Electronic address: benedetto.delforno@hotmail.it.
authors.forename: Benedetto
authors.initials: B
authors.lastname: Del Forno
authors.affiliation: Cardiac Surgery Division, Lancisi Cardiological Hospital, Ancona, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Zingaro
authors.affiliation: Cardiac Surgery Division, Lancisi Cardiological Hospital, Ancona, Italy.
authors.forename: Enza
authors.initials: E
authors.lastname: Di Palma
authors.affiliation: Cardiac Surgery Division, Lancisi Cardiological Hospital, Ancona, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Capestro
authors.affiliation: Cardiac Surgery Division, Lancisi Cardiological Hospital, Ancona, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Rescigno
authors.affiliation: Cardiac Surgery Division, Lancisi Cardiological Hospital, Ancona, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Torracca
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D006348:Cardiac Surgical Procedures / Q000379:methods*; D002315:Cardiopulmonary Bypass / Q000379:methods; D005260:Female; D006325:Heart Atria; D006338:Heart Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods; D008875:Middle Aged; D010236:Paraganglioma, Extra-Adrenal / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D010375:Pedigree; D010673:Pheochromocytoma / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D049268:Positron-Emission Tomography / Q000379:methods*; D035583:Rare Diseases; D018570:Risk Assessment; D056346:Sternotomy / Q000379:methods; D013385:Succinate Dehydrogenase / Q000235:genetics*; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: C491545:SDHD protein, human; D013385:Succinate Dehydrogenase