Loeys-Dietz Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 18 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Aortic dissection during the perinatal period in women with Marfan-related disorders: a retrospective cohort study using the Japanese Diagnosis Procedure Combination database.
Nariai Maika et al. — The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/41866242/
- 2.
Dysregulated proteins in plasma distinguishing Loeys-Dietz syndrome from other heritable thoracic aortic disease - an explorative study.
Seim Bjørn Edvard et al. — Scandinavian cardiovascular journal : SCJ (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/42411742/
- 3.
Outcomes of Thoracic Endovascular Aortic Repair for Thoracic Aortic Disease in Patients with Connective Tissue Disorders: Insights from the Vascular Quality Initiative.
Chamseddine Hassan et al. — Annals of vascular surgery (1 November 2026)
https://pubmed.ncbi.nlm.nih.gov/42442531/
- 4.
Fatal ascending aortic dissection in a 12-year-old boy with previously undiagnosed Loeys-Dietz syndrome: A molecular autopsy case.
Shinba Yoriko et al. — Legal medicine (Tokyo, Japan) (6 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42710196/
- 5.
Connective tissue disorders and cardiac arrhythmias: genetic pathways, mechanistic bridges, and clinical implications
Luke Dreher et al. — Frontiers in Cardiovascular Medicine (3 September 2026)
https://doi.org/10.3389/fcvm.2026.1860012
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a rare inherited connective tissue disorder that weakens the walls of the arteries, particularly the aorta, and can also affect the skeleton, joints, skin and eyes. It is caused by changes in genes in the TGF-beta signalling pathway. Care involves regular imaging of the arteries, blood pressure lowering medicines, activity advice and surgery to repair aneurysms before they tear.
Most Recent Research
OBJECTIVE: Women with Marfan-related disorders face an elevated risk of aortic dissection during pregnancy and the postpartum period. This study aimed to investigate the incidence of aortic dissection during the perinatal period in women with Marfan-related disorders. METHODS: This retrospective cohort study analyzed data extracted from the Japanese Diagnosis Procedure Combination, a nationwide administrative claims database. We included women diagnosed with Marfan-related disorders (Marfan syndrome, Loeys-Dietz syndrome, or Ehlers-Danlos syndrome) who delivered between 2010 and 2023. We assessed the incidence of aortic dissection during pregnancy or postpartum hospitalization, and the incidence of re-hospitalization for aortic dissection. Moreover, we described the use of cabergoline and the incidence of aortic dissection. RESULTS: During the study period, we identified a total of 226 deliveries by 175 women with Marfan-related disorders. Cesarean section accounted for 69.0% of deliveries. During pregnancy, 1.8% of cases (4/226) experienced aortic dissection and required aortic surgery. In the postpartum period, 2.7% of cases (6/226) experienced aortic dissection during postpartum hospitalization. Within 1 year after delivery, 2.7% of cases (6/226) underwent re-hospitalization for aortic dissection. Cabergoline was administered for elective avoidance of breastfeeding within 2 days postpartum in 15 (6.6%) cases. The incidence of postpartum aortic dissection did not differ significantly between cabergoline users and non-users. CONCLUSIONS: Women with Marfan-related disorders may remain at risk of developing aortic dissection for up to 1 year postpartum.
Common Questions
What is Loeys-Dietz Syndrome?
Loeys-Dietz syndrome is a rare inherited connective tissue disorder that weakens the walls of the arteries, particularly the aorta, and can also affect the skeleton, joints, skin and eyes. It is caused by changes in genes in the TGF-beta signalling pathway. Care involves regular imaging of the arteries, blood pressure lowering medicines, activity advice and surgery to repair aneurysms before they tear.
How many clinical trials are available for Loeys-Dietz Syndrome?
RareWays currently indexes 10 clinical trials for Loeys-Dietz Syndrome, of which 4 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Loeys-Dietz Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.