PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II

General Information (adopted from Orphanet):

Synonyms, Signs: PFHBII
PFHB2
Number of Symptoms 8
OrphanetNr:
OMIM Id: 140400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001279) Syncope 94 / 7739
2
(HPO:0001688) Sinus bradycardia 18 / 7739
3
(HPO:0001645) Sudden cardiac death 84 / 7739
4
(HPO:0001678) Atrioventricular block 59 / 7739
5
(HPO:0005178) Complete heart block with narrow QRS complexes 2 / 7739
6
(HPO:0001699) Sudden death 34 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Idionodal escape rhythm 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Brink and Torrington (1977) described a large 4-generation South African family of Dutch ancestry with a strong history of sudden death. Of 24 family members who underwent electrocardiography, 10 had conduction abnormalities, including 3 with sinus bradycardia, 3 ...