Progressive Familial Heart Block, Type Ii

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OMIM 53 140400 Disease Ontology 12 DOID:0111075 MedGen 39 C1841658

SNOMED-CT via HPO 65 263681008 271594007 272030005 309585006 95281009 49710005 26636000 more UMLS 69 C1841658

OMIM : ⁵³ Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see 113900). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes (Brink and Torrington, 1977). (140400)

MalaCards based summary : Progressive Familial Heart Block, Type Ii, also known as pfhb2, is related to progressive familial heart block and progressive familial heart block, type ia, and has symptoms including syncope, sudden cardiac death and sinus bradycardia. An important gene associated with Progressive Familial Heart Block, Type Ii is PFHB2 (Progressive Familial Heart Block, Type II). Affiliated tissues include heart.

NIH Rare Diseases : ⁴⁹ This condition doesn't have a summary yet. Please see our page(s) on Familial progressive cardiac conduction defect.

Disease Ontology : ¹² A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has material basis in variation in the chromosome region 1q32.

Clinical features from OMIM:

140400

Search Clinical Trials , NIH Clinical Center for Progressive Familial Heart Block, Type Ii

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