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]

The mean aortic root size in those patients not presenting with type A dissection was 57 mm, so it had presented late. [academic.oup.com]

Prior presentation : This work was not been previously presented in any format. [kenkyugroup.org]

Some individuals with LDS present with a higher risk of aortic dissection at smaller measurements than those in the Marfan population. [gadacanada.ca]

LDS patients carrying a mutation in SMAD2 present with downslanting palpebral fissures ( 12 ). [annalscts.com]

• Musculoskeletal Pain

  Akhenaten might have suffered from chronic musculoskeletal pain owing to vitamin D deficiency and osteoporosis secondary to LDS, and sunshine exposure might have relieved his pain. [samj.org.za]

  Musculoskeletal complications comprise musculoskeletal pain in two or more limbs, chronic widespread pain, and recurrent joint dislocations or joint instability ( 46 ). [annalscts.com]

• Translucent Skin

  Translucent skin ( Figure 38-3 ) Easy bruising Dystrophic FIGURE 38-3 Thin, translucent skin with large scars in a patient with Loeys Dietz syndrome (LDS). [mhmedical.com]

  We would add facial milia to velvety and translucent skin, easy bruising, varicose veins, and atrophic scars as recognizable cutaneous features of LDS. [jamanetwork.com]

  C) Translucent skin with subcutaneous visible veins and flat feet in Patient 2. [ojrd.biomedcentral.com]

  – 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) that can make the bones [marfan.co]

• Acrogeria

  It is characterized by delicate fragile skin with a tendency for organs to rupture or develop aneurysms, life-threatening complications in pregnancy, characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes), acrogeria [ajnr.org]

  Skin findings in vEDS include easy bruising and bleeding, atrophic scars, and acrogeria. [annalscts.com]

• Papule

  Additional features that affect other connective tissues include soft or velvety skin, mild skin hyperextensibility, unexplained striae, bilateral piezogenic papules of the heel, abdominal hernias, atrophic scarring, pelvic floor, uterine, or rectal prolapse [annalscts.com]

• Blue Sclera

  Disease spectrum and associated features include: Craniofacial hypertelorism cleft palate bifid uvula craniosynostosis malar hypoplasia blue sclerae Chiari I malformation hydrocephalus Cardiovascular aortic dissection aortic dilatation non-aortic aneurysms [radiopaedia.org]

  On clinical examination, the globes of 11 (44%) patients showed a blue sclera and 7 (28%) patients had exotropia. One patient had a retinal detachment diagnosed on funduscopy and not detected on CT. Facial. [ajnr.org]

  Osteopenia/osteoporosis, blue sclerae, hernia, pectus deformity, marfanoid habitus, clubfoot, and refractive errors are also frequently observed and form the minor criteria. In comparison, blue sclerae are also observed in LDS. [annalscts.com]

  Results Patient 1 was a boy showing dysmorphic signs, blue sclerae, high-arched palate, bifid uvula; skeletal system involvement, joint hypermobility, velvety and translucent skin, aortic root dilatation, tortuosity and elongation of the carotid arteries [ojrd.biomedcentral.com]

• Large Breast

  Therefore the unusual shape of Akhenaten in statues and paintings of a prominent abdomen and large breasts could be due to ascites and gynaecomastia, which are seen in cirrhosis secondary to right-sided heart failure in the context of LDS; this can be [samj.org.za]

• Wide Neck

  During her stay in the institution, brain magnetic resonance imaging (MRI) was performed, which revealed the presence of two intracranial aneurysms, one located in the carotid artery and one in the vertebral artery, the latter with a wide neck [Figure [ruralneuropractice.com]

This emphasizes the need to consider routine cardiac diagnoses and appropriate workup for patients with such vascular diseases. [kenkyugroup.org]

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]

• Mural Thrombus

  Right side was more severe, spanning 15 cm cephalocaudally, with maximum diameter of 4.4 cm and significant mural thrombus that narrowed arterial lumen. [ajronline.org]

• Plasmodium Falciparum

  The study group also found evidence of Plasmodium falciparum infection in the mummies. [samj.org.za]

Why choose Johns Hopkins Heart and Vascular Institute for treatment of Loeys-Dietz Syndrome? Our Physicians Our physicians are world experts in the diagnosis and treatment of Loeys-Dietz syndrome. [hopkinsmedicine.org]

Loeys-Dietz Syndrome and Life-Expectancy What Is the Treatment for Loeys-Dietz Syndrome? The only treatment for Loeys-Dietz syndrome to prolong life expectancy is surgical repair of the aortic aneurysm. [medicinenet.com]

Treatments Because LDS is genetic, there is no cure. [cedars-sinai.edu]

Treatment of Loeys-dietz Syndrome Treatment for Loeys-Dietz syndrome has been quite a priority but there has been no definitive treatment for such since identification. [syndromespedia.com]

Prognosis of Loeys-dietz Syndrome Prognosis of the condition can be dependent on the severity of the patient’s state. The condition is said to have a poor prognosis once aortic aneurysms are noted along with other arterial aneurysms. [syndromespedia.com]

Current surgical experience with LDS is excellent, offering a good long-term prognosis with timely identification of the disease. a Department of Pediatrics, Belgium b Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium [journals.lww.com]

Delay in diagnosis of Loeys-Dietz syndrome may be associated with adverse prognosis. aortic aneurysm aortic dissection gene mutation Accepted November 14, 2006. [pediatrics.aappublications.org]

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]

The differential diagnosis between these connective tissue diseases is important because the progression and prognosis of aortic and branch vessel disease is significantly different. [e-sciencecentral.org]

ETIOLOGY AND PATHOPHYSIOLOGY Due to point mutations and (rarely) deletions in the TGFβR1, TGFβR2, TGFβ2, or SMAD3 genes. Autosomal dominant disorder. Highly variable disorder even within families with incomplete penetrance. [mhmedical.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

TA is an inflammatory disease of unknown etiology predominantly affecting the aorta and its main branches [ 23 ]. [uscapknowledgehub.org]

Wu Youke developed the concept that some diseases were caused by transmissible agents and his book Wenyi Lun can be regarded as the main etiological work that brought forward the concept, ultimately attributed to Westerners, of germs as a cause of epidemic [wikivisually.com]

Epidemiologie – Epidemiology is the study and analysis of the patterns, causes, and effects of health and disease conditions in defined populations. [wikivisually.com]

Likewise, strenuous physical activity is discouraged in patients, especially weight lifting and contact sports. [8] Epidemiology [ edit ] The incidence of Loeys–Dietz syndrome is unknown; however, Type 1 and 2 appear to be the most common. [5] References [en.wikipedia.org]

It is distinct from the related malformation pectus excavatum.Contents1 Signs and symptoms 2 Causes 3 Diagnosis 4 Treatment4.1 External bracing technique 4.2 Surgical 4.3 Other options5 Prognosis 6 Epidemiology 7 See also 8 ReferencesSigns and symptoms [theinfolist.com]

EPIDEMIOLOGY, NATURAL HISTORY, AND TYPES OF AORTIC ANEURYSMS Abdominal aortic aneurysms (AAAs), involving the infradiaphragmatic abdominal area, are the most common type of aneurysms. [nap.edu]

Epidemiology, risk factors, pathogenesis and natural history of thoracic aortic aneurysm. In: UpToDate, ed. UpToDate. Waltham, MD2014. Dietz HC. Marfan Syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(R). Seattle (WA) 1993. [bcidaho.com]

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. [journals.lww.com]

ETIOLOGY AND PATHOPHYSIOLOGY Due to point mutations and (rarely) deletions in the TGFβR1, TGFβR2, TGFβ2, or SMAD3 genes. Autosomal dominant disorder. Highly variable disorder even within families with incomplete penetrance. [mhmedical.com]

Roberts, R., MD, Morris, D., MD, Pratt, C.M., MD, Alexander, R.W., MD, Pathophysiology, Recognition, and Treatment of Acute Myocardial Infarction and its Complications, Hurt's The Heart 8th edition, p 1153. [rjmatthewsmd.com]

武田憲文 ４） 和文総説「大動脈解離・大動脈瘤」 診断と治療 106(2):215-220, 2018（診断と治療社） 原弘典、武田憲文 【2016年】 １）英文総説 「Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes」Int Heart J. 2016;57(3):271-7. [square.umin.ac.jp]

Prevention Prevention of the said disease can be hard to attain as the condition is genetic. The only prevention measure that one can perform is to avoid rupture of the aortic aneurysm. [syndromespedia.com]

Dietz, MD, and Paul Sponseller, MD, of Johns Hopkins University, suggested that their findings could allow patients to receive the treatment and monitoring necessary to prevent the complications of these genetic diseases from becoming life-threatening [medpagetoday.com]

TGFBR1, TGFBR2 disorder(s): Loeys-Dietz Syndrome, SMAD3-Related Loeys-Dietz Syndrome, TGFB2-Related Loeys-Dietz Syndrome, TGFBR1-Related Loeys-Dietz Syndrome, TGFBR2-Related Loeys-Dietz Syndrome method(s) : ◦ Sequencing, Next Gen PreventionGenetics (Prevention [genetests.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]

If an increased heart rate is present, atenolol is sometimes prescribed to reduce the heart rate to prevent any extra pressure on the tissue of the aorta. [en.wikipedia.org]