Progressive familial heart block, type II

Preferred Label : Progressive familial heart block, type II;

Symbol : PFHB2;

CISMeF acronym : PFHBII; PFHB2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : PFHBII;

Description : 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).;

Inheritance : Autosomal dominant;

Prefixed ID : %140400;

Details

Origin ID

140400;

UMLS CUI

C1841658;

Automatic exact mappings (from CISMeF team)
- Progressive familial heart block, type II (disorder) [SNOMED CT concept]
- progressive familial heart block type II [DO Concept]
Currated CISMeF NLP mapping
- progressive familial heart block, type II [MeSH concept]
- progressive familial heart block, type II [MeSH Supplementary Concept]
DO Cross reference
- progressive familial heart block type II [DO Concept]
HPO term(s)
- Atrioventricular block [HPO term]
- Atrioventricular nodal disease [HPO term]
- Autosomal dominant inheritance [HPO term]
- Complete heart block with narrow QRS complexes [HPO term]
- Sinus bradycardia [HPO term]
- Sudden cardiac death [HPO term]
- Sudden death [HPO term]
- Syncope [HPO term]
ORDO concept(s)
- Familial progressive cardiac conduction defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive familial heart block, type II (disorder) [SNOMED CT concept]
- progressive familial heart block, type II [MeSH Supplementary Concept]
- progressive familial heart block, type II [MeSH concept]

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