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350 Possible Causes for Ectopia Lentis, Heart Valve Disease

  • Marfan Syndrome

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[] Heart Valve Disease Heart valve disease occurs when the heart valves do not work the way they should. Symptoms of valve disease include shortness of...[] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[]

  • Hypermobility Syndrome

    Ectopia lentis is absent.[] […] of the heart, or association with dental or gum disease.[] […] fibroelastosis 2) Acquired tricuspid valve diseases A) Infection Endocarditis, Rheumatic heart disease B) Secondary to pre-existing disease Carcinoid heart disease, Trauma[]

  • Noonan Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[] Most babies with Noonan syndrome are also born with heart disease.[] It has been also confirmed that mutations in the PTPN11 gene have a very high incidence of congenital heart disease of at least 80%.[]

  • Marchesani-Weill Syndrome

    Simple dominant ectopia lentis. Pathogenic variants in FBN1 have been identified in some families. Inheritance is autosomal dominant. Ectopia lentis and pupilae.[] disease, prolonged QTc complex) can lead to adverse events like fall in cardiac output and ventricular tachycardia. [3] Our patient had only mitral valve pathologies without[] Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis.[]

  • Mitral Valve Prolapse

    The overlapping and more common mitral valve prolapse syndrome is precluded by ectopia lentis or aortic dilatation.[] […] eligible patients with mitral valve regurgitation, one of the most common forms of heart valve disease.[] Finite element analysis of the mitral valve. The Journal of heart valve disease. 1993; 2 :326–40. [ PubMed ] [ Google Scholar ] 44.[]

  • Goldberg-Shprintzen Syndrome

    […] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[] Structural heart defects are variable, but seem to frequently involve the pulmonary arteries and/or valves.[] Other clinical manifestations of Marfan syndrome such as ectopia lentis, aortic aneurysm formation and skeletal features may also be seen in ectopia lentis syndrome, bicuspid[]

  • Chondrodysplasia Punctata

    Skeletal Dysplasia Kallmann syndrome Kartagener syndrome karyomegalic interstitial nephritis Kashin-Beck Disease Kniest dysplasia Kniest-Like Dysplasia with Pursed Lips and Ectopia[] Lentis Kozlowski Tsuruta Taki Syndrome Laminopathies Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Lennox-Gastaut syndrome Leri-Weill dyschondrosteosis[]

  • Geleophysic Dysplasia

    Weill-Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac valvular thickening, tracheal stenosis, and/or[] Also called: Valvular heart disease Summary Your heart has four valves.[] (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[]

  • MASS Syndrome

    More than 30 mutations in the FBN1 gene have been found to cause isolated ectopia lentis.[] Marfan syndrome is an inherited disease that affects the body's connective tissue, which provides the strength, support, and elasticity to tendons, cartilage, heart valves[] Bicuspid Aortic Valve Sequence Left-sided flow defects show more familial predisposition than any other general class of congenital heart disease other than conotruncal defects[]

  • Aortic Disease

    lentis.[] BACKGROUND: Risk factors for developing heart valve and ascending aortic disease are based mainly on retrospective data.[] , Congenital/therapy Heart Valve Diseases/diagnosis Heart Valve Diseases/therapy Hematoma/diagnosis Hematoma/therapy Humans Long-Term Care/methods Male Neoplasms, Vascular[]

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