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426 Possible Causes for Cardiomyopathy, Macroglossia, 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] […] 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] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[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] However, access to secure the airway and for conventional surgery can be challenging, due to limited neck extension, macroglossia and reduced mouth opening.[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]

  • Congenital Muscular Dystrophy

    cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[ncbi.nlm.nih.gov] Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of[rarediseases.org] Additional features include moderate hepatomegaly and macroglossia.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[symptoma.com] Currently, no patient has any clinical evidence of cardiomyopathy.[adc.bmj.com]

  • Duchenne Muscular Dystrophy

    She was treated for peripartum cardiomyopathy (PPCM) with angiotensin converting enzyme inhibitors (ACEi), beta-blockers and diuretics with normalisation of her cardiac function[ncbi.nlm.nih.gov] I couldn’t face another procession of sad phone calls. But, of course, I had to. ‘Nick called his parents, who lived close by, and his dad came round at once.[dailymail.co.uk] This article describes the complex orthodontic treatment of a 22-year-old patient with Duchenne muscular dystrophy and macroglossia.[ncbi.nlm.nih.gov]

  • 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] The patient then received oral melphalan therapy and surgical intervention for macroglossia.[ncbi.nlm.nih.gov]

  • Fabry Disease

    KEYWORDS: Fabry disease; cardiomyopathy, hypertrophic; gadolinium; magnetic resonance; mutation; phenotype; stroke[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] We report the case of a 50-year-old male FD patient on hemodialysis who presented with macroglossia-related speaking difficulty and gastrointestinal symptoms.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease

    We describe a 2-mo-old infant presenting with a familial form of GSD III complicated with cardiomyopathy.[ncbi.nlm.nih.gov] Patients have enlarged liver, growth retardation, osteopenia, sometimes osteoporosis, full-cheeked round face, nephromegaly and frequent epistaxis due to platelet dysfunction[orpha.net] Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and[genedx.com]

  • Cardiac Amyloidosis

    We present a case of cardiac amyloidosis initially misdiagnosed as hypertrophic cardiomyopathy and we discuss the key findings of the disease along with the latest evidence[ncbi.nlm.nih.gov] Weight gain and rounded face. Muscle weakness (uncommon when used intermittently as for treating amyloidosis). Vaginal yeast infection.[circ.ahajournals.org] […] liver (elevations in alkaline phosphatase and potential hepatic failure), gastrointestinal (GI) tract (dysphagia, constipation, malabsorption, and GI bleeding), tongue (macroglossia[acc.org]

  • Hypothyroidism

    Overt hypothyroidism may exacerbate underlying cardiac disease, but cardiomyopathy severe enough to cause heart failure is rare ( Kahaly 2005 ).[dx.doi.org] At clinical examination, she presented with bradycardia, pale and round face, pseudohypertrophy of calf muscles and no pitting edema of the limbs.[ncbi.nlm.nih.gov] Secondary hypothyroidism is characterized by skin and hair that are dry but not very coarse, skin depigmentation, only minimal macroglossia, atrophic breasts, and low BP.[merckmanuals.com]

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