Key result
Proteus syndrome links to cardiothoracic imaging abnormalities in ~97% of patients, predominantly affecting chest wall.
Why the study?
Proteus syndrome primarily affects cutaneous and skeletal tissues, but its cardiac manifestations including myocardial masses and conduction abnormalities are not well characterized.
Observational (n=38)
No
May warrant cardiothoracic imaging surveillance in Proteus syndrome; leaves open optimal frequency and clinical impact.
Proteus syndrome is an overgrowth syndrome principally affecting cutaneous and skeletal tissues, accompanied by subcutaneous hamartomas. We report on a patient with predominantly skeletal and visceral involvement, including a cardiac mass and thickening of the myocardial septum affecting cardiac conduction and contraction.
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Shaw et al. (1993) conducted an observational in Proteus syndrome (n=38). Proteus syndrome was evaluated on Prevalence of cardiothoracic involvement on cross-sectional imaging. In a cohort of 38 individuals with Proteus syndrome, 97% had cardiothoracic involvement on imaging, most commonly affecting the chest wall (94%), lung parenchyma (85%), thoracic vasculature (68%), and myocardium (45% on MRI).
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