MCID: PRG043
MIFTS: 41

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 57 13 73
Pfhb1b 57 12 53 75
Progressive Familial Heart Block Type 1b 53 29 6
Progressive Familial Heart Block Type Ib 12 75
Pfhbib 57 75
Heart Block, Familial, Progressive, Type 1b 40
Heart Block Progressive Familial Type 1b 53
Progressive Familial Heart Block 1b 75
Right Bundle Branch Block 73
Right-Bundle Branch Block 75
Cardiac Conduction Block 75
Heart Block 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
progressive familial heart block, type ib:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Progressive Familial Heart Block, Type Ib

UniProtKB/Swiss-Prot : 75 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 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, testes and atrioventricular node, and related phenotypes are syncope and prolonged qt interval

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

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 47)
# Related Disease Score Top Affiliating Genes
1 right bundle branch block 13.0
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 11.6
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 arrhythmogenic right ventricular cardiomyopathy 10.4
22 atrial fibrillation 10.4
23 pulmonary embolism 10.4
24 cardiac conduction defect 10.4
25 aging 10.4
26 atrioventricular block 10.4
27 heart disease 10.4
28 ischemia 10.4
29 left bundle branch hemiblock 10.3
30 aneurysm 10.3
31 arteries, anomalies of 10.3
32 wolff-parkinson-white syndrome 10.3
33 congestive heart failure 10.3
34 atrial heart septal defect 10.3
35 inferior myocardial infarction 10.3
36 coronary artery anomaly 10.2
37 second-degree atrioventricular block 10.2
38 hypertrophic cardiomyopathy 10.2
39 anteroseptal myocardial infarction 10.2
40 atrial septal aneurysm 10.2
41 facioscapulohumeral muscular dystrophy 1 10.1
42 scleroderma, familial progressive 10.1
43 chagas disease 10.1
44 dextrocardia 10.1
45 autosomal dominant limb-girdle muscular dystrophy 9.9
46 muscular dystrophy 9.9
47 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:

57
Cardiovascular Heart:
prolonged qt interval
syncope
bradycardia
cardiac conduction defects
short pr interval
more

Clinical features from OMIM:

604559

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

32
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 prolonged qt interval 32 HP:0001657
3 bradycardia 32 HP:0001662
4 shortened pr interval 32 HP:0005165
5 left anterior fascicular block 32 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 29 TRPM4

Anatomical Context for Progressive Familial Heart Block, Type Ib

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

41
Heart, Testes, Atrioventricular Node, Spinal Cord

Publications for Progressive Familial Heart Block, Type Ib

Articles related to Progressive Familial Heart Block, Type Ib:

(show top 50) (show all 593)
# Title Authors Year
1
Acute biventricular hemodynamic effects of cardiac resynchronization therapy in right bundle branch block. ( 29800750 )
2018
2
A wide complex tachycardia with atypical right bundle branch block QRS morphology: What is the mechanism? ( 29727501 )
2018
3
Clinical characteristics and value in early reperfusion therapy for new onset right bundle branch block in patients with acute myocardial infarction. ( 29467855 )
2018
4
An interesting case of narrow QRS tachycardia with incomplete right bundle branch block morphology: What is the mechanism? ( 29683541 )
2018
5
Prognostic value of new-onset right bundle-branch block in acute myocardial infarction patients: a systematic review and meta-analysis. ( 29576967 )
2018
6
Persistent ventricular preexcitation despite right bundle branch block. ( 29407483 )
2018
7
Utility of incomplete right bundle branch block as an isolated ECG finding in children undergoing initial cardiac evaluation. ( 29431296 )
2018
8
An interesting case of wide QRS tachycardia with right bundle branch block morphology: What is the mechanism? ( 29781518 )
2018
9
Right bundle branch block and conduction disturbances in Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. ( 29804172 )
2018
10
Wide QRS tachycardia with right bundle branch block QRS morphology that is almost identical to that during sinus rhythm: What is the mechanism? ( 29676823 )
2018
11
The relevance of looking for right bundle branch block in catheter ablation of Ebstein's anomaly. ( 28666538 )
2017
12
Association between right ventricular systolic function and electromechanical delay in patients with right bundle branch block. ( 28238566 )
2017
13
Right bundle branch block and anterior wall ST elevation myocardial infarction. ( 28840315 )
2017
14
Wenckebach pattern in right bundle branch block - benign or not? ( 28340894 )
2017
15
Differentiating the QRS Morphology of Posterior Fascicular Ventricular Tachycardia From Right Bundle Branch Block and Left Anterior Hemiblock Aberrancy. ( 28899954 )
2017
16
Resolution of the functional retrograde right bundle branch block during antidromic atrioventricular reciprocating tachycardia. ( 29387543 )
2017
17
Recurrent extensive anterior myocardial infarction with left and right bundle branch block. ( 29034539 )
2017
18
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
19
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
20
AV nodal reentrant tachycardia with a 2:1 right bundle branch block missed as bidirectional ventricular tachycardia in the first superficial evaluation. ( 28125405 )
2017
21
Patients with right bundle branch block and concomitant delayed left ventricular activation respond to cardiac resynchronization therapy. ( 29294014 )
2017
22
Think beyond right bundle branch block in atrial septal defect. ( 28994692 )
2017
23
Clinical Impact of Baseline Right Bundle Branch Block in Patients Undergoing Transcatheter Aortic Valve Replacement. ( 28734885 )
2017
24
Pre-Transcatheter Aortic Valve Replacement Right Bundle Branch Block: A Bundle of Trouble. ( 28734886 )
2017
25
Transcatheter Heart Valve Selection and Permanent Pacemaker Implantation in Patients With Pre-Existent Right Bundle Branch Block. ( 28258051 )
2017
26
The electromechanical substrate for response to cardiac resynchronization therapy in patients with right bundle branch block. ( 29086988 )
2017
27
Complete right bundle branch block and QRS-T discordance can be the initial clue to detect S-ICD ineligibility. ( 28034575 )
2016
28
Right ventricular failure predicted from right bundle branch block: cardiac magnetic resonance imaging validation. ( 27747166 )
2016
29
Rare Manifestation of Digoxin Toxicity: Right Bundle Branch Block. ( 28104974 )
2016
30
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
31
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
32
Transient complete right bundle branch block following right heart catheterization in children - a report of two cases. ( 27980554 )
2016
33
ECG Case of the Month: IRREGULARLY IRREGULAR CARDIAC RHYTHM IN AN 87-YEAR-OLD WOMAN. MULTIFOCAL ATRIAL TACHYCARDIA; RIGHT BUNDLE BRANCH BLOCK. ( 26986865 )
2016
34
Prognostic Significance of Right Bundle Branch Block for Patients with Acute Myocardial Infarction: A Systematic Review and Meta-Analysis. ( 27017617 )
2016
35
Exercise left ventricular ejection fraction predicts events in right bundle branch block. ( 26634337 )
2016
36
Right bundle branch block and SIQIII-type patterns for risk stratification in acute pulmonary embolism. ( 27083328 )
2016
37
Comorbidities of Chronic Complete Right Bundle Branch Block and Correlations With Coronary Angiographic Findings. ( 26802764 )
2016
38
Postoperative right bundle branch block after closure of ventricular septal defect predicts lower peak heart rate in adulthood. ( 26655532 )
2016
39
Transient right bundle branch block in a patient with acute pulmonary embolism. ( 27817836 )
2016
40
Right Bundle Branch Block-Like Pattern During Uncomplicated Right Ventricular Pacing and the Effect of Pacing Site. ( 26796192 )
2016
41
Right Bundle Branch Block: A Masquerader in Acute Coronary Syndrome. ( 27042612 )
2016
42
TCT-685 Pre-existing Right Bundle-Branch Block Increases Risk of Death after Transcatheter Aortic Valve Implantation with a Balloon-Expandable Valve. ( 27970062 )
2016
43
Clinical Characteristics, Management, and Outcomes of Acute Coronary Syndrome in Patients With Right Bundle Branch Block on Presentation. ( 26762726 )
2016
44
Absent right bundle branch block: Is it a clue of pre-excitation in Ebstein's anomaly? ( 27751284 )
2016
45
Another case of transient resolution of chronic complete right bundle branch block following an acute myocardial infarction. ( 26362883 )
2015
46
Cardiac MRI assessment of right ventricular function: impact of right bundle branch block on the evaluation of cardiac performance parameters. ( 26134997 )
2015
47
New Right Bundle Branch Block as a Criterion for Emergent Coronary Angiography. ( 26942134 )
2015
48
The mechanism of the resolution of chronic right bundle branch block during acute myocardial infarction. ( 26022426 )
2015
49
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
50
Ventricular tachycardia with right bundle branch block morphology in arrhythmogenic right ventricular cardiomyopathy. ( 26301673 )
2015

Variations for Progressive Familial Heart Block, Type Ib

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

75
# 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
(show top 50) (show all 181)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPM4 NM_017636.3(TRPM4): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs267607142 GRCh37 Chromosome 19, 49661142: 49661142
2 TRPM4 NM_017636.3(TRPM4): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs267607142 GRCh38 Chromosome 19, 49157885: 49157885
3 TRPM4 NM_017636.3(TRPM4): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs387907216 GRCh37 Chromosome 19, 49671558: 49671558
4 TRPM4 NM_017636.3(TRPM4): c.490C> T (p.Arg164Trp) single nucleotide variant Pathogenic rs387907216 GRCh38 Chromosome 19, 49168301: 49168301
5 TRPM4 NM_017636.3(TRPM4): c.2741A> G (p.Lys914Arg) single nucleotide variant Pathogenic rs172151858 GRCh37 Chromosome 19, 49703652: 49703652
6 TRPM4 NM_017636.3(TRPM4): c.2741A> G (p.Lys914Arg) single nucleotide variant Pathogenic rs172151858 GRCh38 Chromosome 19, 49200395: 49200395
7 TRPM4 NM_017636.3(TRPM4): c.1082T> G (p.Leu361Arg) single nucleotide variant Uncertain significance rs148763371 GRCh38 Chromosome 19, 49172040: 49172040
8 TRPM4 NM_017636.3(TRPM4): c.1082T> G (p.Leu361Arg) single nucleotide variant Uncertain significance rs148763371 GRCh37 Chromosome 19, 49675297: 49675297
9 TRPM4 NM_017636.3(TRPM4): c.1682A> C (p.Asp561Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs56355369 GRCh38 Chromosome 19, 49183151: 49183151
10 TRPM4 NM_017636.3(TRPM4): c.1682A> C (p.Asp561Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs56355369 GRCh37 Chromosome 19, 49686408: 49686408
11 TRPM4 NM_017636.3(TRPM4): c.58T> A (p.Cys20Ser) single nucleotide variant Uncertain significance rs864622643 GRCh37 Chromosome 19, 49661482: 49661482
12 TRPM4 NM_017636.3(TRPM4): c.58T> A (p.Cys20Ser) single nucleotide variant Uncertain significance rs864622643 GRCh38 Chromosome 19, 49158225: 49158225
13 TRPM4 NM_017636.3(TRPM4): c.301G> A (p.Ala101Thr) single nucleotide variant Benign rs113984787 GRCh38 Chromosome 19, 49167950: 49167950
14 TRPM4 NM_017636.3(TRPM4): c.301G> A (p.Ala101Thr) single nucleotide variant Benign rs113984787 GRCh37 Chromosome 19, 49671207: 49671207
15 TRPM4 NM_017636.3(TRPM4): c.306T> G (p.Val102=) single nucleotide variant Benign rs111783027 GRCh38 Chromosome 19, 49167955: 49167955
16 TRPM4 NM_017636.3(TRPM4): c.306T> G (p.Val102=) single nucleotide variant Benign rs111783027 GRCh37 Chromosome 19, 49671212: 49671212
17 TRPM4 NM_017636.3(TRPM4): c.322C> T (p.Arg108Cys) single nucleotide variant Benign/Likely benign rs115335683 GRCh37 Chromosome 19, 49671228: 49671228
18 TRPM4 NM_017636.3(TRPM4): c.322C> T (p.Arg108Cys) single nucleotide variant Benign/Likely benign rs115335683 GRCh38 Chromosome 19, 49167971: 49167971
19 TRPM4 NM_017636.3(TRPM4): c.783G> A (p.Lys261=) single nucleotide variant Benign/Likely benign rs111930830 GRCh38 Chromosome 19, 49168723: 49168723
20 TRPM4 NM_017636.3(TRPM4): c.783G> A (p.Lys261=) single nucleotide variant Benign/Likely benign rs111930830 GRCh37 Chromosome 19, 49671980: 49671980
21 TRPM4 NM_017636.3(TRPM4): c.308A> G (p.Tyr103Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144781529 GRCh37 Chromosome 19, 49671214: 49671214
22 TRPM4 NM_017636.3(TRPM4): c.308A> G (p.Tyr103Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144781529 GRCh38 Chromosome 19, 49167957: 49167957
23 TRPM4 NM_001195227.1(TRPM4): c.2552_2579del28 (p.Glu851Glyfs) deletion Uncertain significance rs1085307102 GRCh37 Chromosome 19, 49705254: 49705281
24 TRPM4 NM_001195227.1(TRPM4): c.2552_2579del28 (p.Glu851Glyfs) deletion Uncertain significance rs1085307102 GRCh38 Chromosome 19, 49201997: 49202024
25 TRPM4 NM_017636.3(TRPM4): c.448+6C> T single nucleotide variant Benign/Likely benign rs78051297 GRCh38 Chromosome 19, 49168103: 49168103
26 TRPM4 NM_017636.3(TRPM4): c.448+6C> T single nucleotide variant Benign/Likely benign rs78051297 GRCh37 Chromosome 19, 49671360: 49671360
27 TRPM4 NM_017636.3(TRPM4): c.449-10G> A single nucleotide variant Benign/Likely benign rs78444754 GRCh38 Chromosome 19, 49168250: 49168250
28 TRPM4 NM_017636.3(TRPM4): c.449-10G> A single nucleotide variant Benign/Likely benign rs78444754 GRCh37 Chromosome 19, 49671507: 49671507
29 TRPM4 NM_017636.3(TRPM4): c.491G> A (p.Arg164Gln) single nucleotide variant Uncertain significance rs774677078 GRCh38 Chromosome 19, 49168302: 49168302
30 TRPM4 NM_017636.3(TRPM4): c.491G> A (p.Arg164Gln) single nucleotide variant Uncertain significance rs774677078 GRCh37 Chromosome 19, 49671559: 49671559
31 TRPM4 NM_017636.3(TRPM4): c.755G> A (p.Arg252His) single nucleotide variant Benign rs146564314 GRCh38 Chromosome 19, 49168695: 49168695
32 TRPM4 NM_017636.3(TRPM4): c.755G> A (p.Arg252His) single nucleotide variant Benign rs146564314 GRCh37 Chromosome 19, 49671952: 49671952
33 TRPM4 NM_017636.3(TRPM4): c.1003A> G (p.Ile335Val) single nucleotide variant Uncertain significance rs758151540 GRCh37 Chromosome 19, 49674979: 49674979
34 TRPM4 NM_017636.3(TRPM4): c.1003A> G (p.Ile335Val) single nucleotide variant Uncertain significance rs758151540 GRCh38 Chromosome 19, 49171722: 49171722
35 TRPM4 NM_017636.3(TRPM4): c.1368C> G (p.Thr456=) single nucleotide variant Conflicting interpretations of pathogenicity rs56118173 GRCh38 Chromosome 19, 49182682: 49182682
36 TRPM4 NM_017636.3(TRPM4): c.1368C> G (p.Thr456=) single nucleotide variant Conflicting interpretations of pathogenicity rs56118173 GRCh37 Chromosome 19, 49685939: 49685939
37 TRPM4 NM_017636.3(TRPM4): c.1380G> C (p.Leu460=) single nucleotide variant Likely benign rs145755269 GRCh37 Chromosome 19, 49685951: 49685951
38 TRPM4 NM_017636.3(TRPM4): c.1380G> C (p.Leu460=) single nucleotide variant Likely benign rs145755269 GRCh38 Chromosome 19, 49182694: 49182694
39 TRPM4 NM_017636.3(TRPM4): c.1459_1494del36 (p.Lys487_Leu498del) deletion Conflicting interpretations of pathogenicity rs878855029 GRCh37 Chromosome 19, 49686030: 49686065
40 TRPM4 NM_017636.3(TRPM4): c.1459_1494del36 (p.Lys487_Leu498del) deletion Conflicting interpretations of pathogenicity rs878855029 GRCh38 Chromosome 19, 49182773: 49182808
41 TRPM4 NM_017636.3(TRPM4): c.1575G> A (p.Trp525Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71352737 GRCh38 Chromosome 19, 49182889: 49182889
42 TRPM4 NM_017636.3(TRPM4): c.1575G> A (p.Trp525Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71352737 GRCh37 Chromosome 19, 49686146: 49686146
43 TRPM4 NM_017636.3(TRPM4): c.2740A> T (p.Lys914Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs140799936 GRCh37 Chromosome 19, 49703651: 49703651
44 TRPM4 NM_017636.3(TRPM4): c.2740A> T (p.Lys914Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs140799936 GRCh38 Chromosome 19, 49200394: 49200394
45 TRPM4 NM_017636.3(TRPM4): c.3405A> C (p.Ala1135=) single nucleotide variant Benign rs144647383 GRCh38 Chromosome 19, 49210786: 49210786
46 TRPM4 NM_017636.3(TRPM4): c.3405A> C (p.Ala1135=) single nucleotide variant Benign rs144647383 GRCh37 Chromosome 19, 49714043: 49714043
47 TRPM4 NM_017636.3(TRPM4): c.618G> A (p.Ser206=) single nucleotide variant Benign/Likely benign rs142788545 GRCh37 Chromosome 19, 49671815: 49671815
48 TRPM4 NM_017636.3(TRPM4): c.618G> A (p.Ser206=) single nucleotide variant Benign/Likely benign rs142788545 GRCh38 Chromosome 19, 49168558: 49168558
49 TRPM4 NM_017636.3(TRPM4): c.2934T> C (p.Ile978=) single nucleotide variant Benign/Likely benign rs35516880 GRCh37 Chromosome 19, 49704023: 49704023
50 TRPM4 NM_017636.3(TRPM4): c.2934T> C (p.Ile978=) single nucleotide variant Benign/Likely benign rs35516880 GRCh38 Chromosome 19, 49200766: 49200766

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

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