Familial progressive cardiac conduction defect

General Information (adopted from Orphanet):

Synonyms, Signs: PFHBII
PFHBI
Familial Lev-Lenègre disease
Hereditary bundle branch defect
Familial Lev disease
Familial Lenègre disease
Familial PCCD
Familial progressive heart block
Number of Symptoms 19
OrphanetNr: 871
OMIM Id: 113900
115080
140400
604559
612838
ICD-10: I45.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
22717692 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Familial progressive cardiac conduction defect (PCCD), also called progressive familial heart block (PFHB), presents either as a primary electrical disease or is associated with structural heart disease (PMID:25426816). Two types of familial PCCD can be differentiated by certain ECG features. In type I (PFHBI) onset of complete heart block is associated with broad QRS complexes, while in type II (PFHBII) onset of complete heart block is associated with narrow complexes (PMID:7882468).

Symptom Information: Sort by abundance 

1
 (HPO:0011710) Bundle branch block Frequent [IBIS] 26820365 IBIS 14 / 7739
2
 (HPO:0002321) Vertigo 21731570 IBIS 58 / 7739
3
 (HPO:0002027) Abdominal pain 21731570 IBIS 184 / 7739
4
 (HPO:0001645) Sudden cardiac death 7882468 IBIS 84 / 7739
5
 (HPO:0005172) Left posterior fascicular block 22717692 IBIS 2 / 7739
6
 (HPO:0011713) Left bundle branch block 22717692 IBIS 30 / 7739
7
 (HPO:0001279) Syncope 7882468 IBIS 94 / 7739
8
 (HPO:0011675) Arrhythmia Frequent [IBIS] Frequent [Orphanet] 16643399 IBIS 226 / 7739
9
 (HPO:0005178) Complete heart block with narrow QRS complexes 7882468 IBIS 2 / 7739
10
 (HPO:0011712) Right bundle branch block Frequent [IBIS] 22717692 IBIS 34 / 7739
11
 (HPO:0001688) Sinus bradycardia 897853 IBIS 18 / 7739
12
 (HPO:0011711) Left anterior fascicular block Frequent [IBIS] 22717692 IBIS 7 / 7739
13
 (HPO:0001678) Atrioventricular block 7882468 IBIS 59 / 7739
14
 (HPO:0004749) Atrial flutter 21731570 IBIS 20 / 7739
15
 (HPO:0005170) Complete heart block with broad RS complexes 7882468 IBIS 2 / 7739
16
 (HPO:0006677) Prolonged QRS complex 22717692 IBIS 16 / 7739
17
 (HPO:0002094) Dyspnea 7882468 IBIS 132 / 7739
18
 (HPO:0005155) Ventricular escape rhythms 7882468 IBIS 4 / 7739
19
 (OMIM) Idionodal escape rhythm 7882468 IBIS 2 / 7739

Associated genes:

SCN5A; TRPM4; SCN1B; SCN10A; KCNK17; NKX2.5; TBX5; LMNA; GJA5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SCN1B rs267607028 pathogenic RCV000009836.4
SCN5A rs137854607 pathogenic RCV000009983.2
SCN5A rs137854608 pathogenic RCV000009985.2
SCN5A rs1805124 pathogenic RCV000010000.2
SCN5A rs397514447 pathogenic RCV000009975.2
TNNI3K rs606231469 pathogenic RCV000148950.4
TRPM4 rs172149856 pathogenic RCV000029158.3
TRPM4 rs172151858 pathogenic RCV000029162.2
TRPM4 rs200038418 pathogenic RCV000029161.2
TRPM4 rs201907325 pathogenic RCV000029159.3
TRPM4 rs267607142 pathogenic RCV000003968.2
TRPM4 rs387907216 pathogenic RCV000029160.2

Additional Information: