Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2014 Nov 25;3(6):e001493.
doi: 10.1161/JAHA.114.001493.

Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group

Robert B Hinton  1 , Ashwin Prakash  2 , Robb L Romp  3 , Darcy A Krueger  4 , Timothy K Knilans  1 ; International Tuberous Sclerosis Consensus Group
Affiliations
Review

Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group

Robert B Hinton et al. J Am Heart Assoc. .
No abstract available

Keywords: cardiac tumor; genetics; pediatrics; rhabdomyoma.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Genetic basis, pathology, and early and late cardiovascular manifestations of TSC. Sequencing of TSC2 demonstrates a missense mutation 1513C>T known to cause TSC (A). Gross pathology shows a discrete well‐demarcated nonencapsulated cardiac rhabdomyomas with heterogeneous tissue (B). Histopathologic examination of the rhabdomyomas demonstrates the classic finding of spider cells representing abnormal myocardial cells (C). Echocardiography shows multiple cardiac rhabdomyomas in the ventricular myocardium (D). ECG shows supraventricular tachycardia with aberrant conduction that can result from cardiac rhabdomyomas or in isolation (E). MRI shows thoracoabdominal aortic aneurysm (arrows) with tortuosity of the descending thoracic aorta (F). LA indicates left atrium; LV, left ventricle; MRI, magnetic resonance imaging; TSC, tuberous sclerosis complex.
See this image and copyright information in PMC

References

    1. Bourneville DM. Scerose tuberereuse des circonvultions cerebrales: idiotie et epilepsie hemiplegique. Arch Neurol (Paris). 1880; 1:81-91.
    1. Vogt H. Zue pathologie und pathologishcen anatomie der verschiedenen idiotieform. Monatsschr Psychiatr Neurol. 1908; 24:106-150.
    1. Gomez MR. In: Gomez MR. (ed.). Criteria for diagnosis. Tuberous Sclerosis. 19882nd edNew York, NY: Raven Press; 75-87.
    1. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998; 13:624-628. - PubMed
    1. Northrup H, Krueger DAInternational Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Consensus Conference. Pediatr Neurol. 2013; 49:243-254. - PMC - PubMed

MeSH terms

Substances

LinkOut - more resources