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Pheochromocytoma and Paraganglioma in Cyanotic Congenital Heart Disease


Opotowsky, Alexander R; Moko, Lilamarie; Ginns, Jonathan; Rosenbaum, Marlon; Greutmann, Matthias; Aboulhosn, Jamil; Hageman, Abbie; Kim, Yuli; Deng, Lisa X; Grewal, Jasmine; Zaidi, Ali N; Almansoori, Ghadeera; Oechslin, Erwin; Earing, Michael; Landzberg, Michael J; Singh, Michael N; Wu, Fred; Vaidya, Anand (2015). Pheochromocytoma and Paraganglioma in Cyanotic Congenital Heart Disease. Journal of Clinical Endocrinology & Metabolism:1-12.

Abstract

CONTEXT Aberrant cellular oxygen sensing (pseudo-hypoxia) is a leading theory for development of pheochromocytoma (PHEO) and paraganglioma (PGL). OBJECTIVE To test the hypothesis that chronic hypoxia in patients with cyanotic congenital heart disease (CCHD, CHD) increases the risk for PHEO-PGL. DESIGN/SETTING/PARTICIPANTS We investigated the association between CCHD and PHEO-PGL with 2 complementary studies: Study 1) An international consortium was established to identify patients with PHEO-PGL diagnosis confirmed by pathology, or biochemistry and imaging. Study 2) The 2000-2009 Nationwide Inpatient Survey, a nationally representative discharge database, was used to determine population-based cross-sectional PHEO-PGL frequency in hospitalized CCHD patients compared with non-cyanotic CHD and those without CHD using multivariable logistic regression adjusted for age, sex, and genetic PHEO-PGL syndromes. RESULTS Study 1) We identified 20 PHEO-PGL cases, of which 18 had CCHD. Most presented with cardiovascular or psychiatric symptoms. Median cyanosis duration for the CCHD PHEO-PGL cases was 20y (range 1-57y). Cases were young at diagnosis (median 31.5y, range 15-57) and 7/18 had multiple tumors (2 bilateral PHEO; 6 multi-focal or recurrent PGL) while 11 had single tumors (7 PHEO; 4 PGL). PGL were abdominal (13/17) or head/neck (4/17). Cases displayed a noradrenergic biochemical phenotype similar to reported hypoxia-related PHEO-PGL genetic syndromes, but without clinical signs of such syndromes. Study 2) Hospitalized CCHD patients had increased likelihood of PHEO-PGL (adjusted OR=6.0, 95%CI [2.6-13.7], p<0.0001) compared with those without CHD; patients with non-cyanotic CHD had no increased risk (OR=0.9, p=0.48). CONCLUSIONS There is a strong link between CCHD and PHEO-PGL. Whether these rare diseases co-associate due to hypoxic stress, common genetic or developmental factors, or some combination, requires further investigation.

CONTEXT Aberrant cellular oxygen sensing (pseudo-hypoxia) is a leading theory for development of pheochromocytoma (PHEO) and paraganglioma (PGL). OBJECTIVE To test the hypothesis that chronic hypoxia in patients with cyanotic congenital heart disease (CCHD, CHD) increases the risk for PHEO-PGL. DESIGN/SETTING/PARTICIPANTS We investigated the association between CCHD and PHEO-PGL with 2 complementary studies: Study 1) An international consortium was established to identify patients with PHEO-PGL diagnosis confirmed by pathology, or biochemistry and imaging. Study 2) The 2000-2009 Nationwide Inpatient Survey, a nationally representative discharge database, was used to determine population-based cross-sectional PHEO-PGL frequency in hospitalized CCHD patients compared with non-cyanotic CHD and those without CHD using multivariable logistic regression adjusted for age, sex, and genetic PHEO-PGL syndromes. RESULTS Study 1) We identified 20 PHEO-PGL cases, of which 18 had CCHD. Most presented with cardiovascular or psychiatric symptoms. Median cyanosis duration for the CCHD PHEO-PGL cases was 20y (range 1-57y). Cases were young at diagnosis (median 31.5y, range 15-57) and 7/18 had multiple tumors (2 bilateral PHEO; 6 multi-focal or recurrent PGL) while 11 had single tumors (7 PHEO; 4 PGL). PGL were abdominal (13/17) or head/neck (4/17). Cases displayed a noradrenergic biochemical phenotype similar to reported hypoxia-related PHEO-PGL genetic syndromes, but without clinical signs of such syndromes. Study 2) Hospitalized CCHD patients had increased likelihood of PHEO-PGL (adjusted OR=6.0, 95%CI [2.6-13.7], p<0.0001) compared with those without CHD; patients with non-cyanotic CHD had no increased risk (OR=0.9, p=0.48). CONCLUSIONS There is a strong link between CCHD and PHEO-PGL. Whether these rare diseases co-associate due to hypoxic stress, common genetic or developmental factors, or some combination, requires further investigation.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Cardiology
Dewey Decimal Classification:610 Medicine & health
Date:12 January 2015
Deposited On:12 Mar 2015 07:55
Last Modified:05 Apr 2016 18:59
Publisher:Endocrine Society
ISSN:0021-972X
Publisher DOI:https://doi.org/10.1210/jc.2014-3863
PubMed ID:25581599
Permanent URL: https://doi.org/10.5167/uzh-107480

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