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5,231 Possible Causes for Cardiomyopathy, Persistent Notochordal Canal, Small Optic Disc

  • Optic Atrophy-Intellectual Disability Syndrome

    […] right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia/cardiomyopathy , see arrhythmogenic right ventricular cardiomyopathy ARS , see Axenfeld-Rieger[mygenomics.com] disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch 00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016[databases.lovd.nl] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Velocardiofacial Syndrome

    optic discs, posterior embryotoxon and tortous retinal vessels Congenital absence of nasolacrimal duct Hypocalcemia related to hypoparathyroidism Immune deficiency making[syndromespedia.com] […] of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc • Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia[rarediseases.org] Other findings included posterior embryotoxon (69%), isolated corneal nerves (3%), sclerocornea (3%), deep iris crypts (10%), tortuous retinal vessels (58%), small optic nerves[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Congenital Non-Progressive Ataxia

    […] whether oral administration of carvedilol over a 6-month period will reduce left ventricular dimensions in asymptomatic individuals who have a family history of dilated cardiomyopathy[explorer.opentrials.net] Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Alpha-B Crystallinopathy

    Secondary cardiomyopathies are those in which the cardiomyopathy is found in a systemic disease.[intechopen.com] […] round white spots in the posterior pole of the eye, including the areas of the macula and optic disc, appearing in early adult life 4 Fleck retina of Kandori, caused by mutations[centogene.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Systemic Lupus Erythematosus

    Left ventricular noncompaction is a rare structural cardiomyopathy that can occur isolated or in relationship with other conditions, mainly with musculoskeletal diseases or[ncbi.nlm.nih.gov] disc swelling.[academic.oup.com] He developed hypertrophic cardiomyopathy and afebrile generalized seizures at the ages of 7 and 18 years, respectively.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    Hypertrophic cardiomyopathy tends to be the most common form of presentation (60%) followed by dilated cardiomyopathy (27%); echocardiography is the most useful diagnostic[revespcardiol.org] Ophthalmoscopy showed pale optic discs, hypopigmentation, and hyperpigmentation in the posterior pole (Fig 3 ) and clumped pigment in the periphery of the retina (Fig 4 ).[bjo.bmj.com] Deficiencies of human β-oxidation enzymes produce sudden, unexplained death in childhood, acute hepatic encephalopathy, skeletal myopathy, or cardiomyopathy.[uthscsa.influuent.utsystem.edu]

    Missing: Persistent Notochordal Canal
  • Limb-Girdle Muscular Dystrophy Type 2J

    Disease Type of connection Familial isolated dilated cardiomyopathy Autosomal recessive centronuclear myopathy Early-onset myopathy with fatal cardiomyopathy Familial isolated[csbg.cnb.csic.es] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].[pubs.sciepub.com]

    Missing: Small Optic Disc
  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    Blepharitis Blepharospasm Blurred Vision Cataract Cataract - Aberrant Oral Frenula - Growth Delay Cataract - Alopecia - Sclerodactyly Cataract - Ataxia - Deafness Cataract - Cardiomyopathy[sehat.com] Fundal examination revealed chorioretinal folds with an unusual appearance at the macula with optic disc crowding (Figs 1, 2, 3, 4, 5 ).[bjo.bmj.com] notochordal canal syndrome 4 Cases 794 Saethre-Chotzen syndrome 3.0 BP * 300493 Sagliker syndrome 60 Cases 140969 Saldino-Mainzer syndrome 10 Cases 370938 Salt-and-pepper[azkurs.org]

  • Distal Myopathy Type 3

    Involvement of the heart consists of usually terminal cardiomyopathy.[icd9data.com] […] round white spots in the posterior pole of the eye, including the areas of the macula and optic disc, appearing in early adult life 4 Fleck retina of Kandori, caused by mutations[centogene.com] The cardiomyopathy phenotype is usually classified as dilated cardiomyopathy (DCM) but also ARVC and hypertrophic cardiomyopathies (HCM) have been described.[blueprintgenetics.com]

    Missing: Persistent Notochordal Canal
  • Secondary Myopathy

    There are four types of non-ischemic cardiomyopathy: Dilated Cardiomyopathy Hypertrophic Cardiomyopathy Restrictive Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia[my.clevelandclinic.org] A small number of patients had inflammatory changes in the anterior chamber or optic neuropathy with disc edema and reduced visual acuity.[neuroophthalmology.ca] Cardiomyopathy Related Articles What Is Cardiomyopathy? Cardiomyopathy is diseased heart muscle that cannot function (contract) adequately.[emedicinehealth.com]

    Missing: Persistent Notochordal Canal

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