Pheochromocytoma and paraganglioma in cyanotic congenital heart disease

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 4, 2015, Pages 1325-1334

  Opotowsky, Alexander R ^a,b   Moko, Lilamarie E ^a   Ginns, Jonathan ^c   Rosenbaum, Marlon ^c   Greutmann, Matthias ^d   Aboulhosn, Jamil ^e   Hageman, Abbie ^e   Kim, Yuli ^f,g   Deng, Lisa X ^f,g   Grewal, Jasmine ^h   Zaidi, Ali N ^i,j   Almansoori, Ghadeera ^k   Oechslin, Erwin ^k   Earing, Michael ^l   Landzberg, Michael J ^a,b   Singh, Michael N ^a,b   Wu, Fred ^a,b   Vaidya, Anand ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c NewYork Presbyterian Hospital   (United States)

^d UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^h UNIVERSITY OF BRITISH COLUMBIA   (Canada)

ⁱ NATIONWIDE CHILDREN S HOSPITAL   (United States)

^j THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^k UNIVERSITY HEALTH NETWORK   (Canada)

^l MEDICAL COLLEGE OF WISCONSIN   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABDOMINAL TUMOR; ADOLESCENT; ADULT; AGE; AGED; ARTICLE; BIOCHEMISTRY; CARDIOVASCULAR DISEASE; CHILD; CHRONIC DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; CYANOTIC HEART DISEASE; DISEASE ASSOCIATION; DISEASE DURATION; FEMALE; GENETIC DISORDER; HEAD TUMOR; HIGH RISK PATIENT; HISTOPATHOLOGY; HOSPITALIZATION; HUMAN; HUMAN TISSUE; HYPOXIA; LABORATORY TEST; MALE; MENTAL DISEASE; MULTIPLE CANCER; NECK TUMOR; NORADRENERGIC SYSTEM; OBSERVATIONAL STUDY; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; POPULATION RESEARCH; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIODIAGNOSIS; RETROSPECTIVE STUDY; RISK ASSESSMENT; SCHOOL CHILD; SEX; SYMPTOM; TUMOR RECURRENCE; ADRENAL GLAND NEOPLASMS; COMPLICATION; CYANOSIS; HEART DEFECTS, CONGENITAL; MIDDLE AGED; YOUNG ADULT;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; CROSS-SECTIONAL STUDIES; CYANOSIS; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MIDDLE AGED; PARAGANGLIOMA; PHEOCHROMOCYTOMA; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84927617390     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-3863     Document Type: Article

References (52)

1. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39(12):1890-1900.
2. Opotowsky AR, Landzberg MJ, Beghetti M. The exceptional and far-flung manifestations of heart failure in Eisenmenger syndrome. Heart Fail Clin. 2014;10(1):91-104.
3. Lenders JW, Duh QY, Eisenhofer G, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014;99(6):1915-1942.
4. Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287(5454):848-851.
5. Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346(19):1459-1466.
6. Burnichon N, Cascon A, Schiavi F, et al. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res. 2012;18(10):2828-2837.
7. Qin Y, Yao L, King EE, et al. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet. 2010;42(3):229-233.
8. Zhuang Z, Yang C, Lorenzo F, et al. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. NEngl J Med. 2012;367(10):922-930.
9. Jochmanova I, Yang C, Zhuang Z, Pacak K. Hypoxia-inducible factor signaling in pheochromocytoma: turning the rudder in the right direction. J Natl Cancer Inst. 2013;105(17):1270-1283.
10. Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learningfromgenetic heterogeneity. Nat Rev Cancer. 2014;14(2):108-119.
11. Rana HQ, Rainville IR, Vaidya A. Genetic testing in the clinical care of patients with pheochromocytoma and paraganglioma. CurrOpin Endocrinol Diabetes Obes. 2014;21(3):166-176.
12. Favier J, Gimenez-Roqueplo AP. Pheochromocytomas: the (pseudo) - hypoxia hypothesis. Best Pract Res Clin Endocrinol Metab. 2010;24(6):957-968.
13. Arias-Stella J, Valcarcel J. Chief cell hyperplasia in the human carotid body at high altitudes; physiologic and pathologic significance. Hum Pathol. 1976;7(4):361-373.
14. Rodriguez-Cuevas H, Lau I, Rodriguez HP. High-altitude paragangliomas diagnostic and therapeutic considerations. Cancer. 1986;57(3):672-676.
15. Saldana MJ, Salem LE, Travezan R. High altitude hypoxia and chemodectomas. Hum Pathol. 1973;4(2):251-263.
16. Sharabi Y, Grotto I, Huerta M, Grossman E. Susceptibility of the influence of weight on blood pressure in men versus women: lessons from a large-scale study of young adults. AmJ Hypertens. 2004;17(5 Pt 1):404-408.
17. Opotowsky AR, Siddiqi OK, Webb GD. Trends in hospitalizations for adults with congenital heart disease in the U. S. J Am Coll Cardiol. 2009;54(5):460-467.
18. 2-signalling mechanism of adrenal chromaffin cells. Cell Biol Chromaffin Cells. 2004;95-106.
19. Watanabe H, Burnstock G, Jarrott B, Louis WJ. Mitochondrial abnormalities in human phaeochromocytoma. Cell Tissue Res. 1976;172(2):281-288.
20. Cornog JL, Wilkinson JH, Arvan DA, Freed RM, Sellers AM, Barker C. Extra-adrenal pheochromocytoma. Some electron microscopic and biochemical studies. Am J Med. 1970;48(5):654-660.
21. Smith P, Jago R, Heath D. Anatomical variation and quantitative histology of the normal and enlarged carotid body. J Pathol. 1982;137(4):287-304.
22. Astrom K, Cohen JE, Willett-Brozick JE, Aston CE, Baysal BE. Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum Genet. 2003;113(3):228-237.
23. Nolting S, Grossman AB. Signaling pathways in pheochromocytomas and paragangliomas: prospects for future therapies. Endocr Pathol. 2012;23(1):21-33.
24. Gruber H, Metson R. Carotid body paraganglioma regression with relief of hypoxemia. Ann Intern Med. 1980;92(6):800-802.
25. Folger GM Jr, Roberts WC, Mehrizi A, et al. Cyanotic malformations of the heart with pheochromocytoma: a report of five cases. Circulation. 1964;29:750-757.
26. Reynolds JL, Gilchrist TF. Congenital heart disease and pheochromocytoma. Am J Dis Child. 1966;112(3):251-255.
27. Nissenblatt MJ. Cyanotic heart disease: "low altitude" risk for carotid body tumor? Johns Hopkins Med J. 1978;142(1):18-22.
28. Bockelman HW, Arya S, Gilbert EF. Cyanotic congenital heart disease with malignant paraganglioma. Cancer. 1982;50(11):2513-2517.
29. Rutter TW, Mullin V. Pheochromocytoma in a patient with Eisenmenger's complex. Anesthes Analg. 1991;73(4):496-498.
30. Medlicott SAC, Harder JR, Denmark LN. Double inlet left ventricle associated with a subpulmonary tissue tag, dissection of the pulmonary trunk and pheochromocytoma. Cardiol Young. 1997;7(03):334-336.
31. Juneja R, Krishnamani NC, Kothari SS, Guleria S, Mahawar RM. Pheochromocytoma and congenital cyanotic heart disease. Indian Heart J. 2000;52(4):452-454.
32. Kita T, Imamura T, Date H, et al. Two cases of pheochromocytoma associated with tetralogy of Fallot. Hypertens Res. 2003;26(5):433-437.
33. Sparks JW, Seefelder C, Shamberger RC, McGowan FX. The perioperative management of a patient with complex single ventricle physiology and pheochromocytoma. Anesthes Analg. 2005;100(4):972-975.
34. Bellingham GA, Dhir AK, Luke PP. Case report: retroperitoneoscopic pheochromocytoma removal in an adult with Eisenmenger's syndrome. Can J Anaesth. 2008;55(5):295-301.
35. Yoshihara A, Tanabe A, Saito H, et al. A case of malignant pheochromocytoma with Holt-Oram syndrome. Endocr J. 2008;55(1):153-159.
36. Cheung YW, Spevack DM. Single left ventricle and pheochromocytoma. Congen Heart Dis. 2008;3(5):355-358.
37. Chung SJ, Lee AL, Shin CH, Yang SW, Bae EJ, Noh JI. Pheochromocytoma associated with cyanotic congenital heart disease. Korean J Pediatr. 2008;51(1):93-97.
38. Gabhane SK, Gangane NM, Sinha RT. Pentalogy of Fallot and cardiac paraganglioma: a case report. Cases J. 2009;2:9392.
39. Filgueiras-Rama D, Oliver JM, Ruiz-Cantador J, et al. Pheochromocytoma in Eisenmenger's syndrome: a therapeutic challenge. Rev Port Cardiol. 2010;29(12):1873-1877.
40. Hwang BH, Kim HY, Jung SE, Park KW. Extra-adrenal pheochromocytoma after operation of congenital heart disease: a case report of 18-year-old boy. J Korean Surg Soc. 2012;83(1):65-68.
41. Rich BS, Moo TA, Mark S, et al. Sympathetic paraganglioma in a patient with unrepaired tetralogy of Fallot: a case report and review of the literature. J Clin Endocrinol Metab. 2013;98(1):7-12.
42. Balakrishnan G, Ravikumar R, Rao S, Balakrishnan KR. Tetralogy of Fallot with pheochromocytoma: an unusual therapeutic challenge. Asian Cardiovasc Thorac Ann. 2013;21(4):464-466.
43. Kraayenbrink MA, Steven CM. Anaesthesia for carotid body tudoi mour resection in a patient with the Eisenmenger syndrome. A case report. Anaesthesia. 1985;40(12):1194-1197.
44. Hirsch JH, Killien FC, Troupin RH. Bilateral carotid body tumors and cyanotic heart disease. AJR Am J Roentgenol. 1980;134(5):1073-1075.
45. Jewkes AJ, Ward RS, Black J, et al. Bilateral carotid body tumors in a patient with cyanotic congenital heart disease-a case report. Vasc Endovasc Surg. 1990;24(2):127.
46. Wilmshurst P, Newbegin C, Paes R. Chemodectoma in a patient with a single ventricle. Heart. 1997;77(4):385.
47. Pecorari G, Roccia F, Nadalin J, Giordano C, Garzaro M. Combined endovascular and surgical treatment of carotid body tumor in a patient with thoracic situs solitus. Head Neck. 2008;30(11):1523-1526.
48. Eisenhofer G, Walther MM, Huynh TT, et al. Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J Clin Endocrinol Metab. 2001;86(5):1999-2008.
49. Eisenhofer G, Lenders JW, Timmers H, et al. Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma. Clin Chem. 2011;57(3):411-420.
50. Ohuchi H, Takasugi H, Ohashi H, Yamada O, Watanabe K, Yagihara T, et al. Abnormalities of neurohormonal and cardiac autonomic nervous activities relate poorly to functional status in Fontan patients. Circulation. 2004;110(17):2601-2608.
51. Oechslin E, Kiowski W, Schindler R, Bernheim A, Julius B, Brunner-La Rocca HP. Systemic endothelial dysfunction in adults with cyanotic congenital heart disease. Circulation. 2005;112(8):1106-1112.
52. Bolger AP, Sharma R, Li W, et al. Neurohormonal activation and the chronic heart failure syndrome in adults with congenital heart disease. Circulation. 2002;106(1):92-99.