Due to the recent discovery of the underlying genetic mutations leading to LDS, the spectrum of characteristics and complications is not fully understood.
Read MoreLoeys-Dietz syndrome is rare, and has multiple overlapping features with other connective tissue disorders. As such, many radiologists remain unfamiliar with the imaging and clinical findings in LDS.
Read MoreOver a ten-year period, researchers in the Netherlands studied 26 adults with Loeys-Dietz syndrome type 3 (LDS-3) to determine how many of them experienced neurovascular abnormalities like aneurysms, arterial tortuosity (abnormal twisting of the arteries), arterial coiling, and arterial kinking and how these events impacted their health. 84.6% of individuals studied using neurovascular imaging showed some form of neurovascular abnormality, though only two individuals experienced significant issues during the study period.
Read MoreThis study reveals that a pathogenic TGFBR1 variant causes lineage-specific SMC defects informing the etiology of LDS-associated aortic root aneurysm. As a potential pharmacological strategy, our results highlight a combination treatment with Activin A and rapamycin that can rescue the SMC defects caused by the variant.
Read MoreIn this article, the authors identify several key areas that require further research, including identifying new disease-causing variants not currently associated with TAA to build on what is already known about established TAA-associated mutations and using human, mouse, and stem cell models to study changes at the single-cell level for each stage of disease.
Read MoreWe describe the case of a 21-year-old man who was diagnosed with Loeys-Dietz syndrome after 2 family members died of aortic dissection. This case highlights the importance of increased physician awareness of this syndrome, which can play a crucial role in preventing premature sudden cardiac death caused by aortic catastrophe.
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