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227 Possible Causes for Cardiomyopathy, Round Face, Splenomegaly

  • Mucopolysaccharidosis

    […] trunk (dwarfism), dysplasia (abnormal bone size and/or shape) and other skeletal irregularities, thickened skin, enlarged organs such as liver (hepatomegaly) or spleen (splenomegaly[en.wikipedia.org] Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[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 2

    Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly[secure.ssa.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] […] degenerative joints causing joint stiffness Spinal cord defects Sleep disorder such as sleep apnea Decrease in mental cognition Enlarged liver (hepatomegaly) and enlarged spleen (splenomegaly[dovemed.com]

  • Rheumatoid Arthritis

    It is extremely rare for RA to present as FS or develop after initially presenting as neutropaenia and splenomegaly.[ncbi.nlm.nih.gov] (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] 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

    PATIENT CONCERNS: We reported two cases with ApoA-1 amyloidosis, a 64-year-old man suffering from nephrotic syndrome and a 40-year-old man with nephrotic syndrome and splenomegaly[ncbi.nlm.nih.gov] OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder that affects over one in 500 persons worldwide.[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]

  • Systemic Lupus Erythematosus

    […] relapsing illness, with a variety of different presentations. [ 5 , 6 ] Symptoms and signs are often nonspecific - eg, fatigue (can be severe and debilitating), malaise, fever, splenomegaly[patient.info] 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] Depending on the dosage, people who require steroids may develop Cushing's syndrome, symptoms of which may include obesity, puffy round face, diabetes mellitus, increased[en.wikipedia.org]

  • Mucopolysaccharidosis 1

    Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] […] features (86.4%) Corneal clouding (70.9%) Heaptomegaly (70.0%) Kyphosis/gibbus (70.0%) Hernias (58.9%) Airway-related symptoms, such as sleep disturbances/snoring (51.6%) Splenomegaly[oncofertility.northwestern.edu]

  • Liver Cirrhosis

    We performed LS in 83 patients with massive splenomegaly ( 30 cm) secondary to portal hypertension and liver cirrhosis.[ncbi.nlm.nih.gov] […] cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy[ncbi.nlm.nih.gov] face ("chipmunk cheeks") Enlarged abdomen Inability to sleep Mood swings Hand tremors (shaking) Acne Steroid dependency Note: Patients must never stop or reduce the prednisone[emedicinehealth.com]

  • Fabry Disease

    Diffuse angiokeratoma: report of two cases with diffuse skin changes, one with neurological symptoms and splenomegaly.[ncbi.nlm.nih.gov] 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]

  • Alstrom Syndrome

    She developed ascites, esophageal varices, and splenomegaly in her twenties. Cirrhosis was confirmed by autopsy; the patient was 26 years of age at death.[ncbi.nlm.nih.gov] Parental screening echocardiograms revealed no evidence of clinically silent dilated cardiomyopathy.[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]

  • Lipodystrophy

    See Atlas 2, Part F.) congenital generalized lipodystrophy an autosomal recessive condition marked by the virtual absence of subcutaneous adipose tissue, large body size, splenomegaly[medical-dictionary.thefreedictionary.com] Lamin A/C mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation. 2001; 103 : e20.[circ.ahajournals.org] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[rarediseases.org]

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