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]

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Google Scholar, 6. [gimjournal.org]

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]

• Liver Fibrosis

  Transforming growth factor-β-induced cell plasticity in liver fibrosis and hepatocarcinogenesis. Frontiers in Oncology, 8. https://doi.org/10.3389/fonc.2018.00357 Findlay, J. K., Gear, M. L., Illingworth, P. J., Junk, S. M., Kay, G., Mackerras, A. [loeysdietzcanada.org]

• Joint Deformity

  deformities called contractures that restrict the movement of certain joints Disc degeneration Joint inflammation (osteoarthritis) in the knees and the joints of the hands, wrists and spine Additional symptoms of the condition include: Bruising easily [cedars-sinai.org]

  deformities called contractures that restrict the movement of certain joints Disc degeneration Joint inflammation ( osteoarthritis ) in the knees and the joints of the hands, wrists and spine Additional symptoms of the condition include: Bruising easily [cedars-sinai.edu]

  deformities called contractures that restrict the movement of certain joints. [medlineplus.gov]

• Small Hand

  Arthrosis usually affects the knee, hip joints, small hand and feet joints, and spinal joints already in adolescence, which requires conservative treatment [13, 21]. [journals.eco-vector.com]

• Translucent Skin

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

  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]

  Almost 100% of patients show some type of abnormal skin findings including translucent skin, soft or velvety skin, easy bleeding, easy bruising, recurrent hernias, and scarring problems. [hopkinsmedicine.org]

• 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]

  Blue sclera is noted in patients with Loeys–Dietz syndrome and is usually not registered in patients with Marfan syndrome [3]. [journals.eco-vector.com]

  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]

  sclerae, a blue tinge to the whites of the eyes micrognathia, a small chin retrognathia, receding chin Skeletal system symptoms long fingers and toes contractures of the fingers clubfoot scoliosis, curvature of the spine cervical-spine instability joint [healthline.com]

• 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]

• Communicating Hydrocephalus

  Although none of the patients with Chiari 1 malformations had hydrocephalus, there were 3 others (12%) with mild-to-moderate communicating hydrocephalus, the cause of which was not known. [ajnr.org]

  They consist of a downward displacement of the cerebellar tonsils through the foramen magnum (the opening at the base of the skull), sometimes causing non-communicating hydrocephalus[3] as a result of obstruction of cerebrospinal fluid (CSF) outflow.[ [theinfolist.com]

  A conclusion of residual encephalopathy, intraventricular hemorrhage convalescence, periventricular leukomalacia, combined communicating hydrocephalus, pseudobulbar dysarthria, and myopathic symptom complex in the genetic syndrome structure was made. [journals.eco-vector.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]

Treatment Because LDS is genetic, there is no cure. [cedars-sinai.org]

Management and Treatment How is Loeys-Dietz syndrome treated? Loeys-Dietz treatments are unique to each individual. Your care depends on the associated problems and symptoms. [my.clevelandclinic.org]

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]

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]

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]

Likewise, strenuous physical activity is discouraged in patients, especially weight lifting and contact sports.[9] Epidemiology[edit] The incidence of Loeys–Dietz syndrome is unknown; however, Type 1 and 2 appear to be the most common.[6] References[edit [en.wikipedia.org]

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

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]

It is currently not possible to estimate reliably the prevalence of Loeys–Dietz syndrome in a population because of the lack of large-scale epidemiological studies. [journals.eco-vector.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]

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 Can you prevent Loeys-Dietz syndrome? If you have the gene change that causes Loeys-Dietz syndrome, you may want to meet with a genetic counselor. [my.clevelandclinic.org]

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]

These aneurysms require careful monitoring and early surgical repair to prevent this severe complication. [childrenshospital.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]