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Article Synopsis
- Proteus syndrome is a rare disorder marked by irregular growth of bones and skin caused by mutations in the AKT1 gene.
- Patients can experience severe respiratory issues, like lung disease and increased risk of blood clots, which can lead to significant health risks and mortality.
- The case report highlights a young individual with Proteus syndrome developing precapillary pulmonary arterial hypertension, underscoring the importance of a thorough evaluation when patients present with breathing difficulties.
Right ventricular (RV) dysfunction and pulmonary hypertension (PH) occurs in approximately one-third of patients with interstitial lung disease (ILD) and is associated with reduced 6-minute walk distance (6MWD), and increased hospitalizations and mortality. Although the impact of RV dysfunction and PH has been well described in several types of ILD, data is scarce on antisynthetase syndrome. Therefore, we sought to examine the presence of RV dysfunction and PH in patients with antisynthetase syndrome and the impact on clinical outcomes.
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