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Results 1 - 10 of 26 for Hypertrophic cardiomyopathy 18
  1. Familial hypertrophic cardiomyopathy 
    ... HYPERTROPHIC, 15; CMH15 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20 CARDIOMYOPATHY, FAMILIAL ...
    https://medlineplus.gov/.../familial-hypertrophic-cardiomyopathy - Genetics
  2. Arrhythmogenic right ventricular cardiomyopathy 
    ... MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Cardiomyopathy Overview. 2005 Apr 18 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... cardiomyopathy: molecular genetics into clinical practice in the era ...
    https://medlineplus.gov/...hmogenic-right-ventricular-cardiomyopathy - Genetics
  3. Keratoderma with woolly hair 
    ... disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18. ...
    https://medlineplus.gov/.../condition/keratoderma-with-woolly-hair - Genetics
  4. DOLK-congenital disorder of glycosylation 
    ... adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy. DOLK-CDG is likely a rare condition; at least 18 cases have been reported in the scientific literature. ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
  5. GM1 gangliosidosis 
    ... hypertrophy), and an enlarged and weakened heart muscle (cardiomyopathy). ... around the age of 18 months (late infantile form) or 5 years (juvenile ...
    https://medlineplus.gov/genetics/condition/gm1-gangliosidosis - Genetics
  6. Barth syndrome 
    ... characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), ... in males.In males with Barth syndrome, dilated cardiomyopathy is often present at birth or develops within ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  7. Limb-girdle muscular dystrophy 
    ... girdle muscular dystrophy.Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular ... 14; MDDGC14 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18; LGMDR18 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  8. Primary carnitine deficiency 
    ... brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), vomiting, muscle weakness, and low blood glucose (hypoglycemia). ... no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet. 2002 Aug 15;111( ...
    https://medlineplus.gov/.../condition/primary-carnitine-deficiency - Genetics
  9. Carnitine palmitoyltransferase II deficiency 
    ... failure, seizures, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heart beat (arrhythmia). Affected individuals ... of hypoketotic hypoglycemia, seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. Problems related to this form of ...
    https://medlineplus.gov/...nitine-palmitoyltransferase-ii-deficiency - Genetics
  10. Rippling muscle disease 
    ... isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy. Several CAV3 gene mutations have been found to ... mutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd. ...
    https://medlineplus.gov/genetics/condition/rippling-muscle-disease - Genetics
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