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693 Possible Causes for Cardiomyopathy, Hearing Impairment, Round Face

  • Mucopolysaccharidosis 2

    Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[symptoma.com] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[ncbi.nlm.nih.gov] During 36 months of ERT, symptoms typical of MPS VI including short stature, progressive dysmorphic facial features, hepatosplenomegaly, hearing impairment, corneal clouding[ncbi.nlm.nih.gov] […] mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com] Currently, no patient has any clinical evidence of cardiomyopathy.[adc.bmj.com]

  • Congenital Muscular Dystrophy

    cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[ncbi.nlm.nih.gov] , Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertonic[blueprintgenetics.com] Respiratory dysfunction, along with cardiomyopathy, can be life-threatening in patients with advanced-stage FCMD. However, few reports have focused on this issue.[ncbi.nlm.nih.gov]

  • Alstrom Syndrome

    Parental screening echocardiograms revealed no evidence of clinically silent dilated cardiomyopathy.[ncbi.nlm.nih.gov] The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing impairment, diabetes mellitus, and hypertriglyceridemia[ncbi.nlm.nih.gov] Although growth spurt is normal in early childhood, it plateaus off and individuals with ALMS usually have a short stature, round face, thick ears, frontal alopecia, abnormal[symptoma.com]

  • Fabry Disease

    KEYWORDS: Fabry disease; cardiomyopathy, hypertrophic; gadolinium; magnetic resonance; mutation; phenotype; stroke[ncbi.nlm.nih.gov] Configuration of hearing loss was classified according to the European Working Group on Genetics of Hearing Impairment.[ncbi.nlm.nih.gov] Round-robin slide reviews and two face-to-face scoring sessions with a modified Delphi technique [ 23 ] were used to refine the scoring system.[ncbi.nlm.nih.gov]

  • Rheumatoid Arthritis

    (0.50–0.66) Cardiac diseases Acute MI 2.6 (0.9) 7.8 (1.3) 0.31 (0.27–0.34) Chronic ischemic heart disease 4.0 (0.9) 11.7 (0.7) 0.32 (0.29–0.35) Congestive heart failure/cardiomyopathy[ncbi.nlm.nih.gov] Impairment in Patients with Rheumatoid Arthritis: Analysis of Data from the Korean National Health and Nutrition Examination Survey, PLOS ONE, 11, 10, (e0164591), (2016).[doi.org] These side effects are serious and can include easy bruising, thinning of the bones (osteoporosis), cataracts, weight gain, a round face, susceptibility to infections, diabetes[orthop.washington.edu]

  • Amyloidosis

    Echocardiogram and cardiac MRI scan showed restrictive cardiomyopathy. Congo red staining of gastric biopsies showed amyloid deposition.[ncbi.nlm.nih.gov] Weight gain and rounded face. Muscle weakness (uncommon when used intermittently as for treating amyloidosis). Vaginal yeast infection.[ahajournals.org] OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder that affects over one in 500 persons worldwide.[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome See More Categories: Dilated cardiomyopathy with hypergonadotropic hypogonadism (DCMHH) is a condition that[rarediseases.info.nih.gov] Sensorineural hearing loss is caused by an impaired ability of the auditory nerves to transmit sensory input to the brain.[rarediseases.org] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[rarediseases.org]

  • Propionic Acidemia

    Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention.[ncbi.nlm.nih.gov] It can be assumed that acute and chronic effects of accumulating metabolites on the KvLQT1/KCNE1 channel protein may similarly cause the hearing impairment of patients with[ncbi.nlm.nih.gov] It’s not detailed enough to round with 1. Open or select the patient(s) you want 2.[slidex.tips]

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