Literature DB >> 22670000

Evil lurks in the heart of man: cardiac paraganglioma presenting as recurrent dyspnoea and chronic cough.

Jessica Moline1, Joanne Ngeow, Prabhakar Rajiah, Charis Eng.   

Abstract

A man in his 60s presents with chronic dyspnoea and cough for 3 years. EKG and nuclear stress test were not diagnostic. An echocardiogram revealed moderate pericardial effusion. His symptoms improved with ibuprofen temporarily and a repeat echocardiogram showed resolution of the effusion. However, when his symptoms recurred, re-imaging showed a large intracardiac tumour causing right ventricular outflow obstruction. Subsequent histological examination revealed metastatic paraganglioma. He was found to carry a germline mutation in the SDHB gene which is associated with higher malignant risk. Knowledge of his underlying mutation allowed the patient and his family to receive appropriate gene-specific counselling and surveillance.

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Mesh:

Year:  2011        PMID: 22670000      PMCID: PMC3246175          DOI: 10.1136/bcr.11.2011.5170

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  15 in total

1.  Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

Authors:  Henri J L M Timmers; Anna Kozupa; Graeme Eisenhofer; Margarita Raygada; Karen T Adams; Daniel Solis; Jacques W M Lenders; Karel Pacak
Journal:  J Clin Endocrinol Metab       Date:  2007-01-02       Impact factor: 5.958

2.  Cardiac paraganglioma (chemodectoma): a case report and review of the literature.

Authors:  R Gopalakrishnan; A R Ticzon; P A Cruz; F B Kennedy; F C Duffy; B Barmada; J W Giacobine
Journal:  J Thorac Cardiovasc Surg       Date:  1978-08       Impact factor: 5.209

3.  An intrapericardial phaeochromocytoma.

Authors:  E Besterman; L L Bromley; W S Peart
Journal:  Br Heart J       Date:  1974-03

4.  Germ-line mutations in nonsyndromic pheochromocytoma.

Authors:  Hartmut P H Neumann; Birke Bausch; Sarah R McWhinney; Bernhard U Bender; Oliver Gimm; Gerlind Franke; Joerg Schipper; Joachim Klisch; Carsten Altehoefer; Klaus Zerres; Andrzej Januszewicz; Charis Eng; Wendy M Smith; Robin Munk; Tanja Manz; Sven Glaesker; Thomas W Apel; Markus Treier; Martin Reineke; Martin K Walz; Cuong Hoang-Vu; Michael Brauckhoff; Andreas Klein-Franke; Peter Klose; Heinrich Schmidt; Margarete Maier-Woelfle; Mariola Peçzkowska; Cesary Szmigielski; Charis Eng
Journal:  N Engl J Med       Date:  2002-05-09       Impact factor: 91.245

5.  Mediastinal paraganglioma presenting as an intracardiac mass with superior vena caval obstruction.

Authors:  S K Sharma; S Sharma; S Mukhopadhyay
Journal:  Thorax       Date:  1993-11       Impact factor: 9.139

6.  Phaeochromocytomas discovered during coronial autopsies in Sydney, Melbourne and Auckland.

Authors:  A R McNeil; B H Blok; T D Koelmeyer; M P Burke; J M Hilton
Journal:  Aust N Z J Med       Date:  2000-12

7.  Biochemical diagnosis and localization of pheochromocytoma: can we reach a consensus?

Authors:  Ashley Grossman; Karel Pacak; Anna Sawka; Jacques W M Lenders; Debra Harlander; Robert T Peaston; Rodney Reznek; James Sisson; Graeme Eisenhofer
Journal:  Ann N Y Acad Sci       Date:  2006-08       Impact factor: 5.691

8.  Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005.

Authors:  Karel Pacak; Graeme Eisenhofer; Håkan Ahlman; Stefan R Bornstein; Anne-Paule Gimenez-Roqueplo; Ashley B Grossman; Noriko Kimura; Massimo Mannelli; Anne Marie McNicol; Arthur S Tischler
Journal:  Nat Clin Pract Endocrinol Metab       Date:  2007-02

9.  Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

Authors:  Hartmut P H Neumann; Christian Pawlu; Mariola Peczkowska; Birke Bausch; Sarah R McWhinney; Mihaela Muresan; Mary Buchta; Gerlind Franke; Joachim Klisch; Thorsten A Bley; Stefan Hoegerle; Carsten C Boedeker; Giuseppe Opocher; Jörg Schipper; Andrzej Januszewicz; Charis Eng
Journal:  JAMA       Date:  2004-08-25       Impact factor: 56.272

Review 10.  Malignant pheochromocytoma: current status and initiatives for future progress.

Authors:  Graeme Eisenhofer; Stefan R Bornstein; Frederieke M Brouwers; Nai-Kong V Cheung; Patricia L Dahia; Ronald R de Krijger; Thomas J Giordano; Lloyd A Greene; David S Goldstein; Hendrik Lehnert; William M Manger; John M Maris; Hartmut P H Neumann; Karel Pacak; Barry L Shulkin; David I Smith; Arthur S Tischler; William F Young
Journal:  Endocr Relat Cancer       Date:  2004-09       Impact factor: 5.678

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  1 in total

1.  Succinate dehydrogenase gene mutations in cardiac paragangliomas.

Authors:  Victoria L Martucci; Abbas Emaminia; Jaydira del Rivero; Ronald M Lechan; Bindiya T Magoon; Analyza Galia; Tito Fojo; Steve Leung; Roberto Lorusso; Camilo Jimenez; Barry L Shulkin; Jennifer L Audibert; Karen T Adams; Douglas R Rosing; Anand Vaidya; Robert G Dluhy; Keith A Horvath; Karel Pacak
Journal:  Am J Cardiol       Date:  2015-03-24       Impact factor: 2.778

  1 in total

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