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852 Possible Causes for Ectopia Lentis, Sudden Death

  • 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.[ncbi.nlm.nih.gov] These aneurysms upon rupture may lead to sudden deaths.[ncbi.nlm.nih.gov] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[doi.org]

  • Mitral Valve Prolapse

    The overlapping and more common mitral valve prolapse syndrome is precluded by ectopia lentis or aortic dilatation.[ncbi.nlm.nih.gov] As a consequence, sudden death might occur in these patients, thought to be caused by an arrhythmogenic event.[ncbi.nlm.nih.gov] death, let alone a cause of sudden death.[verywell.com]

  • Stroke

    Patients have a marfanoid habitus, ectopia lentis, and myopia and generally have intellectual disability. [29] Thromboembolic events are the most common cause of death for[emedicine.medscape.com] A very severe stroke can cause sudden death.[who.int] […] very high doses and because sudden cardiac deaths were a small proportion of all CHD events.[doi.org]

  • Aortic Dissection

    Ocular features An important distinguishing feature between LDS and MFS is the lack of ectopia lentis in LDS ( 28 ).[dx.doi.org] We report sudden death in a patient diagnosed with AAAD and in whom critical care ultrasound highly indicated hemorrhagic cardiac tamponade.[ncbi.nlm.nih.gov] The findings indicate a second treatment option for Marfan patients, who are at high risk of sudden death from tears in the aorta.[news-medical.net]

  • Dilated Cardiomyopathy 1R

    lentis, isolated, autosomal dominant Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Ehlers-Danlos syndrome, hydroxylysine-deficient Ehlers-Danlos syndrome[pentacorelab.hu] death from ventricular arrhythmias than other CMH Degree of cardiac hypertrophy correlates with sudden death risk CMH 2 Cardiac troponin T2 (TNNT2) ; Chromosome 1q32.1; Dominant[neuromuscular.wustl.edu] Enf-293 EBD, localisata variant COL7A1 collagen, type VII, alpha 1 Enf-294 Ectodermal dysplasia 2, Clouston type 129500 GJB6 gap junction protein, beta 6, 30kDa Enf-295 Ectopia[ac-gen.com]

  • Ectopia Lentis

    Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis.[emedicine.com] ADAMTSL4 Specificity 100 % Genes 100 % Inherited Cardiovascular Diseases and Sudden Death Panel. By Health in Code in Spain.[mendelian.co] In the absence of trauma, ectopia lentis should evoke suspicion for concomitant hereditary systemic disease or associated ocular disorders. [4, 5] Ectopia lentis.[emedicine.com]

  • 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[medicinman.cz] Without proper diagnosis and treatment, they are at high risk for an aortic dissection and sudden death.[charities.org] An important gene associated with Goldberg-Shprintzen Syndrome is KIF1BP (KIF1 Binding Protein), and among its related pathways/superpathways are Sudden Infant Death Syndrome[malacards.org]

  • Carnitine Transporter Deficiency

    Nonspecific features in infancy: failure to thrive, developmental delay Eyes: downward subluxation of the ocular lens ( ectopia lentis ) after age 3 ; myopia and glaucoma[amboss.com] Primary carnitine deficiency may be completely asymptomatic or can sometimes present acutely with sudden death.[symptoma.com] If the disorder goes unrecognized, death can occur due to cardiac failure, arrhythmias or sudden death.[checkorphan.org]

  • Barth 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[icd9data.com] In conclusion, mutations in taffazin impair mitochondrial respiratory chain complexes, which may results in the acute metabolic decompensation and sudden death; cardiac transplantation[dx.doi.org] death, growth delay and failure to thrive as infants, poor muscle tone, difficulty with fine finger movements and walking, lack of stamina and frequent serious bacterial[nicklauschildrens.org]

  • Hereditary Hyperekplexia

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] Recurrent apnea, feeding difficulties, choking, and sudden death are reported in some cases.[pediatricneurologybriefs.com] The disorder can be fatal in neonates as the prolonged periods of rigidity can lead to sudden death from apnea or aspiration.[cags.org.ae]

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