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Loeys-Dietz Syndrome


Presentation

  • A 37-year-old woman with LDS presented with numerous facial milia. She reported that the milia had been present since early childhood. Inspection of her skin revealed numerous striae.[jamanetwork.com]
  • We have given presentations at Grand Rounds in various hospitals. We have created a medical presentation and the “Head-to-Toe” checklist that we have presented to over 1300 medical professionals from around the world.[loeysdietzcanada.org]
  • TAAs were present in 67% of the cases (4/6), and in Leutermann et al. aneurysms were present in two of the family members [ 18 ],[ 19 ].[bmcmedgenet.biomedcentral.com]
  • L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL Title Loss-of-function mutations in TGFB2 cause a syndromic presentation[genome.jp]
  • Although there is at present no standardized diagnostic method for DE in LDS, some qualitative [6], [8] and quantitative methods [9], [12], [13] have been used.[journals.plos.org]
Abdominal Pain
  • pain, and/or gastrointestinal bleeding and inflammation Rupture of the spleen or bowel Rupture of the uterus during pregnancy When a person has these particular features, it is important to be evaluated for Loeys-Dietz syndrome.[marfan.org]
Diarrhea
  • […] the bones (osteoporosis) that can make the bones more likely to break) Other Allergies to food and elements in the environment Stomach and intestine problems, such as difficulty absorbing food and chronic (comes and goes but never really goes away) diarrhea[marfan.org]
Receding Chin
  • chin Skeletal system symptoms long fingers and toes contractures of the fingers clubfoot scoliosis, curvature of the spine cervical-spine instability joint laxity pectus excavatum (a sunken chest) or pectus carinatum (a protruding chest) osteoarthritis[healthline.com]
Cyanosis
  • Michaëlsson GOlsson EWestermark P The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis.[jamanetwork.com]
Osteoporosis
  • […] or malformation of the spine in the neck Skin Easy bruising, wide scars, soft skin texture, and translucent skin (when it looks almost see-through) Bones Club foot (when the foot is turned inward and upward at birth) Poor mineralization of the bones (osteoporosis[marfan.org]
  • In some individuals with Loeys-Dietz syndrome, other physical abnormalities have been noted, including defects at birth in the heart and brain, osteoporosis (weak bones), skin changes (such as translucent skin and/or easy bruising), and defects of the[medicinenet.com]
Foot Deformity
  • deformities, or contractures allergy medications and consulting with an allergist physical therapy to treat cervical spine instability consulting with a nutritionist for gastrointestinal issues No two people with Loeys-Dietz syndrome will have the same[healthline.com]
Hypertelorism
  • The classical triad of Loeys-Dietz syndrome is described as 1 : arterial tortuosity and aneurysms hypertelorism bifid uvula or cleft palate Loeys-Dietz syndrome is rare, with prevalence estimated at less than one per 100,000.[radiopaedia.org]
  • Other facial features included hypertelorism and retrognathia. The oral cavity was notable for a high-arched palate and a broad uvula.[jamanetwork.com]
  • It is characterised by aortic and peripheral aneurysms and arterial tortuosity, bifid uvula and/or cleft palate, and hypertelorism, and is caused by mutations in the genes for the transforming growth factor β receptors 1 or 2 ( TGFBR1 at chromosome 9q33[ncbi.nlm.nih.gov]
  • Other features of Loeys-Dietz syndrome include: Cardiovascular Arteries that twist and wind (arterial tortuosity) Heart defects at birth (atrial septal defect, patent ductus arteriosis, bicuspid aortic valve) Eyes, Head and Neck Widely-spaced eyes (hypertelorism[marfan.org]
  • Most individuals with this disorder have craniofacial features that include hypertelorism (widely spaced eyes) and a bifid or broad uvula.[hopkinsmedicine.org]

Workup

  • Thus, it will be some time before they are used for routine clinical assessment of the vascular system in general and the workup of patients with LDS. Conclusion LDS is a recently described inherited vasculopathic syndrome.[pubs.rsna.org]
Cervical Spine X-Ray
  • Monitoring may include: annual or biannual echocardiograms annual computed tomography angiography (CTA) or magnetic resonance angiography (MRA) cervical spine X-rays Depending on your symptoms, other treatments and preventive measures may include: medications[healthline.com]

Treatment

  • Studies are ongoing to determine whether drug treatment of the Loeys-Dietz syndrome also may be of value.[medicinenet.com]
  • It’s important to meet with a doctor who is familiar with the disorder in order to determine a treatment plan. There’s no cure for the disorder, so treatment is aimed at preventing and treating symptoms.[healthline.com]
  • Is aortic root replacement surgery a necessary treatment? The goal of aortic root replacement surgery is to replace weak tissue before a tear occurs.[hopkinsmedicine.org]
  • We present our experience with the treatment and follow-up of pediatric patients with a diagnosis of MS or LDS.[revespcardiol.org]
  • To learn more about Loeys-Dietz syndrome and its diagnosis and treatment, download: Loeys-Dietz syndrome[marfan.org]

Prognosis

  • Current surgical experience with LDS is excellent, offering a good long-term prognosis with timely identification of the disease.[insights.ovid.com]
  • In contrast to Loeys-Dietz syndrome, in other inherited syndromes associated with aortic aneurysms, surgery carries a poorer prognosis, and the aneurysms can be managed with medications for a longer period of time before surgery becomes necessary.[medicinenet.com]

Epidemiology

  • Stroke epidemiology: a review of population-based studies of incidence, prevalence, and case-fatality in the late 20th century. Lancet Neurol. 2003 Jan. 2(1):43-53. [Medline].[medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • The clinical characteristics, molecular findings and pathophysiological mechanisms are summarized. The discovery of this entity has confirmed a key role for transforming growth factor beta signaling in aortic aneurysmal disease.[insights.ovid.com]
  • Primary intracerebral hemorrhage: pathophysiology. Can J Neurol Sci. 2005 Dec. 32 Suppl 2:S3-12. [Medline]. Thrift AG, Donnan GA, McNeil JJ. Epidemiology of intracerebral hemorrhage. Epidemiol Rev. 1995. 17(2):361-81. [Medline].[medscape.com]
  • The pathophysiology of TAAD is complex and multi-factorial.[bmcmedgenet.biomedcentral.com]

Prevention

  • At 12.5 years, the younger sister died due to aortic dissection (SV, 49 mm; z-score, 7.3); she had previously declined a preventative intervention.[revespcardiol.org]
  • There’s no cure for the disorder, so treatment is aimed at preventing and treating symptoms. Due to the high risk of rupture, someone with this condition should be followed closely to monitor the formation of aneurysms and other complications.[healthline.com]
  • The Heart Outcomes Prevention Evaluation Study Investigators. N Engl J Med. 2000 Jan 20. 342(3):145-53. [Medline]. PROGRESS Collaborative Group.[medscape.com]
  • The genetic mutations in Loeys-Dietz causes a change in the receptor that prevents TGF-beta from working on the cells.[medicinenet.com]
  • Aortic tortuosity is an important radiologic finding, as it has been shown to be an independent predictor of preventative surgery being required and/or dissection developing ( 16 ).[pubs.rsna.org]

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