Progressive Familial Heart Block, Type IB

Alternative Names

  • Progressive Familial Heart Block, Type IB
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WHO-ICD-10 version:2010

Diseases of the circulatory system

Other forms of heart disease

OMIM Number

604559

Mode of Inheritance

Autosomal dominant 

Gene Map Locus

19q13.33

Description

Progressive Familial Heart Block is a genetic condition wherein electrical signaling from the atria to the ventricles is obstructed. Type I PFHB originates in the bundle branch. PFHB1B is caused due to mutations in the TRPM4 gene. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604559.G.1LebanonYes Heart blockNM_017636.3:c.1294G>AHeterozygousAutosomal, DominantLiu et al, 2010; de Meeus et al, 1995; Stephan et al, 1978 Large kindred with 5...
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