Pregnancies in women with Loeys–Dietz syndrome (LDS) are rare and are typically documented in case reports only. Early reports suggested high rates of maternal complications during pregnancy and the puerperium, including aortic dissection and uterine rupture, but information on fetal outcomes was very limited.
Read MoreIn this retrospective study, all patients seen at our pediatric tertiary care center from 2004 through 2018 with a diagnosis of LDS were reviewed, and those with radiographic diagnoses of scoliosis (full-length scoliosis X-rays) were included.
Read MoreOur results suggest that despite the negative impact of HDCTv on the patients’ daily lives, overall, they present an optimal disease adjustment which points to appropriate coping strategies. More research in psychosocial aspects of people with these rare diseases are needed to confirm these results and better understand their needs.
Read MoreThe purpose was to study self‐reported chronic pain and fatigue symptoms among adults with molecularly verified Loeys–Dietz and vascular Ehlers–Danlos syndrome using a cross‐sectional questionnaire design.
Read MoreDue 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 MoreAlthough the topics of surgical techniques and medical therapies have been widely studied in aortic dissection (AD), studies examining the short- and long-term impact of this event on mental health are largely lacking. Many of the studies have used the 36-Item Short Form Survey at variable time points after the event. However, AD as medical trauma has a complex impact on a person’s identity. Its implications for emotional, mental, social, existential, and self-concept could be explored more robustly.
Read MoreMarfan and Loeys–Dietz syndromes may lead to spinal deformity, which becomes severe at an early age. Bracing may only be of value if started before the curve is 25° and growth-friendly strategies may be necessary.
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 MoreIn this review, the authors examined 13 articles that discuss the management of orthopedic issues in individuals with LDS. Of the 435 individuals described in the reviewed articles, spinal complications were the most commonly reported.
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 review, the authors outline the history of Marfan syndrome and Loeys-Dietz syndrome (LDS) with a nod to Dr. Victor McKusick, who dedicated his career to these and other genetic connective tissue conditions. The authors discuss a number of obstacles that must be overcome in order to advance research in Marfan syndrome and LDS and recommendations
Read MoreThis study examined aortic stiffness and aortic blood flow in the thoracic aorta of 21 adults with Loeys-Dietz syndrome (LDS) and compared their results to (1) adults with Marfan syndrome and (2) individuals with no known significant health issues.
Read MoreAortic and vascular complications are often the focus of patient care practices and research related to Loeys-Dietz syndrome (LDS), with some additional attention paid to topics like orthopedic issues, asthma, and food allergies. In this article, the authors describe their study of 36 children and adults with LDS types 1-4 and how the condition affected their hearing, ears, and face/head
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 MorePregnancies in women with Loeys–Dietz syndrome (LDS) are rare and are typically documented in case reports only. Early reports suggested high rates of maternal complications during pregnancy and the puerperium, including aortic dissection and uterine rupture, but information on fetal outcomes was very limited.
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.
Read MoreA prospective study was performed of LDS patients or their caregivers. The study included data collected via an online survey of age-specific questions. Standard statistical methods were used for baseline and demographic characteristics, as well as group comparisons.
Read MoreWe demonstrate that patients with Loeys-Dietz syndrome (LDS), an autosomal dominant disorder caused by mutations in the genes encoding receptor subunits for TGFβ, TGFBR1 and TGFBR2, are strongly predisposed to develop allergic disease, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal disease.
Read MoreThe purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys–Dietz syndrome (LDS).
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