Progressive familial heart block, type ia

Preferred Label : Progressive familial heart block, type ia;

Symbol : PFHB1A;

CISMeF acronym : HBBD; PCCD; PFHBIA; PFHBI; PFHB1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Heart block, progressive familial, type I; Lenegre-lev disease; Cardiac conduction defect, progressive; Bundle branch block; Hereditary bundle branch system defect; PFHBIA; PFHBI; PCCD; HBBD;

Included titles and symbols : Heart block, nonprogressive; Cardiac conduction defect, nonprogressive;

Description : Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block (Brink and Torrington, 1977; van der Merwe et al., 1986; van der Merwe et al., 1988). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; 140400), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker (Brink et al., 1995). - Genetic Heterogeneity of Progressive Familial Heart Block Type I Progressive familial heart block type IB (PFHB1B; 604559) is caused by mutation in the TRPM4 gene (606936) on chromosome 19q13.32.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, 600163.0009);

Prefixed ID : #113900;

Details

Origin ID

113900;

UMLS CUI

C1879286;

Automatic exact mappings (from CISMeF team)
- Bundle branch block [PASCAL descriptor]
- Bundle branch block [HPO term]
- SCN5A wt Allele [NCIt concept]
- cardiac conduction defect, nonprogressive [MeSH concept]
- cardiac conduction defect, nonprogressive [MeSH Supplementary Concept]
- heart block, nonprogressive [MeSH concept]
- heart block, nonprogressive [MeSH Supplementary Concept]
- sodium voltage-gated channel alpha subunit 5 [ORDO Gene]
Currated CISMeF NLP mapping
- Lev's syndrome (disorder) [SNOMED CT concept]
- Progressive Familial Heart Block, Type Ia [NCIt concept]
- hereditary bundle branch system defect [MeSH Supplementary Concept]
- progressive familial heart block type IA [DO Concept]
DO Cross reference
- progressive familial heart block type IA [DO Concept]
False automatic mappings
- BUNDLE BRANCH BLOCK [WHO-ART Preferred Term]
- Block bundle branch [MedDRA LLT]
- Bundle Branch Block by ECG Finding [NCIt concept]
- Bundle branch block [MedDRA Preferred Term]
- Bundle branch block (disorder) [SNOMED CT concept]
- Bundle branch block NOS [MedDRA LLT]
- Bundle-Branch block [MeSH concept]
- Hereditary bundle branch system defect [MeSH concept]
- bundle branch block, nos [SNOMED Notion]
- bundle-branch block [MeSH Descriptor]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Complete heart block with broad QRS complexes [HPO term]
- Dyspnea [HPO term]
- Heterogeneous [HPO term]
- Left anterior fascicular block [HPO term]
- Left posterior fascicular block [HPO term]
- Right bundle branch block [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)
- Familial progressive cardiac conduction defect [ORDO Disease]
- Hereditary bundle branch system defect [MeSH concept]
- Lev's syndrome (disorder) [SNOMED CT concept]
- Progressive Familial Heart Block, Type Ia [NCIt concept]
- Progressive familial heart block (disorder) [SNOMED CT concept]
- hereditary bundle branch system defect [MeSH Supplementary Concept]

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