MCID: PRG043
MIFTS: 40

Progressive Familial Heart Block, Type Ib

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Progressive Familial Heart Block, Type Ib

MalaCards integrated aliases for Progressive Familial Heart Block, Type Ib:

Name: Progressive Familial Heart Block, Type Ib 53 13 69
Pfhb1b 53 12 49 71
Progressive Familial Heart Block Type Ib 12 71
Progressive Familial Heart Block Type 1b 49 28
Pfhbib 53 71
Heart Block Progressive Familial Type 1b 49
Progressive Familial Heart Block 1b 71
Right Bundle Branch Block 69
Right-Bundle Branch Block 71
Cardiac Conduction Block 71
Heart Block 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
patients often require implantation of a pacemaker
conduction defect is progressive


HPO:

31
progressive familial heart block, type ib:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Progressive Familial Heart Block, Type Ib

UniProtKB/Swiss-Prot : 71 Progressive familial heart block 1B: A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.

MalaCards based summary : Progressive Familial Heart Block, Type Ib, also known as pfhb1b, is related to right bundle branch block and progressive familial heart block, type ia, and has symptoms including syncope, prolonged qt interval and bradycardia. An important gene associated with Progressive Familial Heart Block, Type Ib is TRPM4 (Transient Receptor Potential Cation Channel Subfamily M Member 4). Affiliated tissues include heart.

Disease Ontology : 12 A progressive familial heart block characterized by that has material basis in heterozygous mutation in the TRPM4 gene on chromosome 19q13.

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

Description from OMIM: 604559

Related Diseases for Progressive Familial Heart Block, Type Ib

Diseases in the Heart Block, Congenital family:

Progressive Familial Heart Block, Type Ia Progressive Familial Heart Block, Type Ii
Progressive Familial Heart Block, Type Ib Progressive Familial Heart Block

Diseases related to Progressive Familial Heart Block, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 right bundle branch block 12.8
2 progressive familial heart block, type ia 12.1
3 brugada syndrome 1 12.0
4 brugada syndrome 11.8
5 ventricular fibrillation, paroxysmal familial, 1 11.7
6 brugada syndrome 2 11.3
7 brugada syndrome 3 11.3
8 brugada syndrome 4 11.3
9 brugada syndrome 5 11.3
10 brugada syndrome 6 11.3
11 brugada syndrome 7 11.3
12 brugada syndrome 8 11.3
13 brugada syndrome 9 11.3
14 kearns-sayre syndrome 11.0
15 myopathy, myofibrillar, 1 11.0
16 myocardial infarction 10.9
17 acute myocardial infarction 10.7
18 tetralogy of fallot 10.6
19 atrial standstill 1 10.5
20 ventricular septal defect 10.4
21 atrial fibrillation 10.4
22 pulmonary embolism 10.4
23 aging 10.4
24 arrhythmogenic right ventricular cardiomyopathy 10.4
25 atrioventricular block 10.4
26 cardiac conduction defect 10.3
27 heart disease 10.3
28 aneurysm 10.3
29 arteries, anomalies of 10.3
30 wolff-parkinson-white syndrome 10.3
31 episodic pain syndrome, familial, 1 10.3
32 atrial heart septal defect 10.3
33 congestive heart failure 10.2
34 coronary artery anomaly 10.2
35 second-degree atrioventricular block 10.2
36 hypertrophic cardiomyopathy 10.2
37 inferior myocardial infarction 10.2
38 anteroseptal myocardial infarction 10.2
39 ring chromosome y syndrome 10.2
40 atrial septal aneurysm 10.2
41 chagas disease 10.1
42 autosomal dominant limb-girdle muscular dystrophy 9.9
43 muscular dystrophy 9.9
44 limb-girdle muscular dystrophy 9.9

Graphical network of the top 20 diseases related to Progressive Familial Heart Block, Type Ib:



Diseases related to Progressive Familial Heart Block, Type Ib

Symptoms & Phenotypes for Progressive Familial Heart Block, Type Ib

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
cardiac conduction defects
bradycardia
syncope
left axis deviation
right axis deviation
more

Clinical features from OMIM:

604559

Human phenotypes related to Progressive Familial Heart Block, Type Ib:

31
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 prolonged qt interval 31 HP:0001657
3 bradycardia 31 HP:0001662
4 shortened pr interval 31 HP:0005165
5 left anterior fascicular block 31 HP:0011711

UMLS symptoms related to Progressive Familial Heart Block, Type Ib:


syncope

Drugs & Therapeutics for Progressive Familial Heart Block, Type Ib

Genetic Tests for Progressive Familial Heart Block, Type Ib

Genetic tests related to Progressive Familial Heart Block, Type Ib:

# Genetic test Affiliating Genes
1 Progressive Familial Heart Block Type 1b 28 TRPM4

Anatomical Context for Progressive Familial Heart Block, Type Ib

MalaCards organs/tissues related to Progressive Familial Heart Block, Type Ib:

38
Heart

Publications for Progressive Familial Heart Block, Type Ib

Articles related to Progressive Familial Heart Block, Type Ib:

(show top 50) (show all 579)
# Title Authors Year
1
Utility of incomplete right bundle branch block as an isolated ECG finding in children undergoing initial cardiac evaluation. ( 29431296 )
2018
2
Persistent ventricular preexcitation despite right bundle branch block. ( 29407483 )
2018
3
Successful catheter ablation of focal ventricular tachycardia originating from right bundle branch without making right bundle branch block, using pharmacologic induction by landiolol. ( 29296582 )
2017
4
Resolution of the functional retrograde right bundle branch block during antidromic atrioventricular reciprocating tachycardia. ( 29387543 )
2017
5
Right bundle branch block pattern after uncomplicated right ventricular outflow tract pacing in a patient with a left sided superior vena cava and corrected tetralogy of Fallot. ( 29183713 )
2017
6
Think beyond right bundle branch block in atrial septal defect. ( 28994692 )
2017
7
Pre-Transcatheter Aortic Valve Replacement Right Bundle Branch Block: A Bundle of Trouble. ( 28734886 )
2017
8
The electromechanical substrate for response to cardiac resynchronization therapy in patients with right bundle branch block. ( 29086988 )
2017
9
Transcatheter Heart Valve Selection and Permanent Pacemaker Implantation in Patients With Pre-Existent Right Bundle Branch Block. ( 28258051 )
2017
10
Association between right ventricular systolic function and electromechanical delay in patients with right bundle branch block. ( 28238566 )
2017
11
The relevance of looking for right bundle branch block in catheter ablation of Ebstein's anomaly. ( 28666538 )
2017
12
AV nodal reentrant tachycardia with a 2:1 right bundle branch block missed as bidirectional ventricular tachycardia in the first superficial evaluation. ( 28125405 )
2017
13
Right bundle branch block and anterior wall ST elevation myocardial infarction. ( 28840315 )
2017
14
Patients with right bundle branch block and concomitant delayed left ventricular activation respond to cardiac resynchronization therapy. ( 29294014 )
2017
15
Wenckebach pattern in right bundle branch block - benign or not? ( 28340894 )
2017
16
Differentiating the QRS Morphology of Posterior Fascicular Ventricular Tachycardia From Right Bundle Branch Block and Left Anterior Hemiblock Aberrancy. ( 28899954 )
2017
17
Clinical Impact of Baseline Right Bundle Branch Block in Patients Undergoing Transcatheter Aortic Valve Replacement. ( 28734885 )
2017
18
Recurrent extensive anterior myocardial infarction with left and right bundle branch block. ( 29034539 )
2017
19
Prognostic Significance of Right Bundle Branch Block for Patients with Acute Myocardial Infarction: A Systematic Review and Meta-Analysis. ( 27017617 )
2016
20
Sodium channel blockade unmasked Brugada electrocardiographic pattern in a patient with complete right bundle branch block and early repolarization in the lateral leads. ( 27830074 )
2016
21
Absent right bundle branch block: Is it a clue of pre-excitation in Ebstein's anomaly? ( 27751284 )
2016
22
Postoperative right bundle branch block after closure of ventricular septal defect predicts lower peak heart rate in adulthood. ( 26655532 )
2016
23
Exercise left ventricular ejection fraction predicts events in right bundle branch block. ( 26634337 )
2016
24
Right Bundle Branch Block-Like Pattern During Uncomplicated Right Ventricular Pacing and the Effect of Pacing Site. ( 26796192 )
2016
25
An interventricular and right intraventricular dyssynchrony related to right bundle branch block appearance as cause of RVOT gradient decrease in a HCM patient. ( 26802821 )
2016
26
Transient right bundle branch block in a patient with acute pulmonary embolism. ( 27817836 )
2016
27
Complete right bundle branch block and QRS-T discordance can be the initial clue to detect S-ICD ineligibility. ( 28034575 )
2016
28
Transient complete right bundle branch block following right heart catheterization in children - a report of two cases. ( 27980554 )
2016
29
Rare Manifestation of Digoxin Toxicity: Right Bundle Branch Block. ( 28104974 )
2016
30
Right Bundle Branch Block: A Masquerader in Acute Coronary Syndrome. ( 27042612 )
2016
31
ECG Case of the Month: IRREGULARLY IRREGULAR CARDIAC RHYTHM IN AN 87-YEAR-OLD WOMAN. MULTIFOCAL ATRIAL TACHYCARDIA; RIGHT BUNDLE BRANCH BLOCK. ( 26986865 )
2016
32
Right ventricular failure predicted from right bundle branch block: cardiac magnetic resonance imaging validation. ( 27747166 )
2016
33
Right bundle branch block and SIQIII-type patterns for risk stratification in acute pulmonary embolism. ( 27083328 )
2016
34
TCT-685 Pre-existing Right Bundle-Branch Block Increases Risk of Death after Transcatheter Aortic Valve Implantation with a Balloon-Expandable Valve. ( 27970062 )
2016
35
Comorbidities of Chronic Complete Right Bundle Branch Block and Correlations With Coronary Angiographic Findings. ( 26802764 )
2016
36
Clinical Characteristics, Management, and Outcomes of Acute Coronary Syndrome in Patients With Right Bundle Branch Block on Presentation. ( 26762726 )
2016
37
New Right Bundle Branch Block as a Criterion for Emergent Coronary Angiography. ( 26942134 )
2015
38
Comparison of left ventricular torsion and strain with biventricular pacing in patients with underlying right bundle branch block versus those with left bundle branch block. ( 25779616 )
2015
39
Cardiac MRI assessment of right ventricular function: impact of right bundle branch block on the evaluation of cardiac performance parameters. ( 26134997 )
2015
40
Involvement of the right ventricle in hypertrophic cardiomyopathy and occurrence of right bundle branch block. ( 26386927 )
2015
41
An Unusual Cause for New Right Bundle-Branch Block. ( 26475390 )
2015
42
Ventricular tachycardia with right bundle branch block morphology in arrhythmogenic right ventricular cardiomyopathy. ( 26301673 )
2015
43
A Wide Complex Left Bundle Branch Block Tachycardia in a Patient with Complete Right Bundle Branch Block: What is the Mechanism? ( 25777462 )
2015
44
Brugada Syndrome with Early Repolarization masked by Complete Right Bundle-Branch Block. ( 26443792 )
2015
45
Right Bundle Branch Block-Like Pattern During Ventricular Pacing: A Surface Electrocardiographic Mapping Technique to Locate the Ventricular Lead. ( 26118446 )
2015
46
Clinical and electrocardiographic characteristics of idiopathic ventricular arrhythmias with right bundle branch block and superior axis: Comparison of apical crux area and posterior septal left ventricle. ( 25728755 )
2015
47
ECG Case of the Month: Unexpected Atrioventricular Conduction in High-Grade Atrioventricular Block. Sinus rhythm; high-grade second degree atrioventricular block with a junctional escape rhythm and three capture complexes, each with right bundle branch block aberration; possible septal myocardial infarct of indeterminate age; ST-T and U wave changes suggesting hypokalemia. ( 25978059 )
2015
48
Another case of transient resolution of chronic complete right bundle branch block following an acute myocardial infarction. ( 26362883 )
2015
49
The mechanism of the resolution of chronic right bundle branch block during acute myocardial infarction. ( 26022426 )
2015
50
The Prognostic Significance of Right Bundle Branch Block: A Meta-analysis of Prospective Cohort Studies. ( 26436874 )
2015

Variations for Progressive Familial Heart Block, Type Ib

UniProtKB/Swiss-Prot genetic disease variations for Progressive Familial Heart Block, Type Ib:

71
# Symbol AA change Variation ID SNP ID
1 TRPM4 p.Glu7Lys VAR_064042 rs267607142
2 TRPM4 p.Gln131His VAR_066763 rs172146854
3 TRPM4 p.Arg164Trp VAR_066764 rs387907216
4 TRPM4 p.Gln293Arg VAR_066766 rs172147855
5 TRPM4 p.Ala432Thr VAR_066767 rs201907325
6 TRPM4 p.Gly582Ser VAR_066770 rs172149856
7 TRPM4 p.Tyr790His VAR_066771 rs172150857
8 TRPM4 p.Gly844Asp VAR_066772 rs200038418
9 TRPM4 p.Lys914Arg VAR_066774 rs172151858
10 TRPM4 p.Pro970Ser VAR_066775 rs172152859

ClinVar genetic disease variations for Progressive Familial Heart Block, Type Ib:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPM4 NM_017636.3(TRPM4): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs387907216 GRCh37 Chromosome 19, 49671558: 49671558
2 TRPM4 NM_017636.3(TRPM4): c.2741A> G (p.Lys914Arg) single nucleotide variant Pathogenic rs172151858 GRCh37 Chromosome 19, 49703652: 49703652
3 TRPM4 NM_017636.3(TRPM4): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs267607142 GRCh37 Chromosome 19, 49661142: 49661142

Expression for Progressive Familial Heart Block, Type Ib

Search GEO for disease gene expression data for Progressive Familial Heart Block, Type Ib.

Pathways for Progressive Familial Heart Block, Type Ib

GO Terms for Progressive Familial Heart Block, Type Ib

Sources for Progressive Familial Heart Block, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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