Cardiomyopathy, Dilated, 1KK

Alternative Names

  • CMD1KK
  • Cardiomyopathy, Familial Hypertrophic, 22
  • CMH22
  • Cardiomyopathy, Familial Restrictive, 4
  • RCM4

Associated Genes

Myopalladin
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WHO-ICD-10 version:2010

Diseases of the circulatory system

Other forms of heart disease

OMIM Number

615248

Mode of Inheritance

Autosomal dominant

Gene Map Locus

10q21.3

Description

A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615248.1LebanonMaleYes Hypertrophic cardiomyopathyNM_032578.4:c.3335C>THeterozygousAutosomal, DominantRefaat et al. 2019 Similarly affected b...
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