Literature DB >> 23703751

Cardiac fat-containing lesions are common in tuberous sclerosis complex.

Elias A Shaaya1, Jacqueline S Hirshberg, Olivia T Rabe, Ronald L Thibert, Ignacio Inglessis, Amita Sharma, Elizabeth A Thiele.   

Abstract

Tuberous sclerosis complex (TSC) is a highly variable, multisystem, genetic disorder that affects approximately 1:6,000 individuals. It has previously been thought that the cardiac manifestation of TSC is congenital rhabdomyomas, which occur during infancy and typically regress during childhood. Recently, there have been findings of cardiac fat-containing lesions in adult TSC patients that appear distinct from the presence of cardiac rhabdomyomas. We review the chest CT scans of 73 individuals with TSC to check for cardiac fat-containing lesions. Fat-containing lesions were found in the heart of approximately one-third of adolescents and adults with TSC. In this population with cardiac fat-containing lesions, no statistically significant difference was observed between the genders and between the different mutation types. Compared to those without cardiac fat findings, those with cardiac fat were more than twice as likely to have another abdominal manifestation of TSC. The results indicate that it may be appropriate to consider these cardiac fat foci as a clinical criterion for the diagnosis of TSC, given their frequency in our population. Our findings also suggest that a relation exists between the cardiac fat-containing lesions and other abdominal angiomyolipomas. More research regarding these cardiac fat-containing lesions is needed to better characterize their origin and clinical significance.
Copyright © 2013 Wiley Periodicals, Inc.

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Year:  2013        PMID: 23703751     DOI: 10.1002/ajmg.a.36037

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

Review 1.  Myocardial fat as a part of cardiac visceral adipose tissue: physiological and pathophysiological view.

Authors:  K Selthofer-Relatić; I Bošnjak
Journal:  J Endocrinol Invest       Date:  2015-03-15       Impact factor: 4.256

Review 2.  Thoracoabdominal imaging of tuberous sclerosis.

Authors:  Cara E Morin; Nicholas P Morin; David N Franz; Darcy A Krueger; Andrew T Trout; Alexander J Towbin
Journal:  Pediatr Radiol       Date:  2018-08-04

3.  Myocardial Fatty Foci in Tuberous Sclerosis Complex: Imaging Findings.

Authors:  Jeremy Burt; Baiywo Rop; Edward Derrick; Jamil Armaly; Usman Siddiqui
Journal:  Cureus       Date:  2016-07-14

4.  Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

Authors:  Ismaël Bah; Somayyeh Fahiminiya; Louis R Bégin; Nancy Hamel; Maria D D'Agostino; Simon Tanguay; William D Foulkes
Journal:  J Pathol Clin Res       Date:  2018-06-13
  4 in total

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