PFHB1A
MCID: PRG042
MIFTS: 65

Progressive Familial Heart Block, Type Ia (PFHB1A)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Progressive Familial Heart Block, Type Ia

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

Name: Progressive Familial Heart Block, Type Ia 57
Heart Block, Nonprogressive 57 29 13 6
Bundle Branch Block 57 72 54 17
Pfhb1a 57 12 20 72
Progressive Familial Heart Block Type Ia 12 72 15
Hereditary Bundle Branch System Defect 57 72 70
Lenegre-Lev Disease 57 72 6
Progressive Familial Heart Block, Type 1a 29 6
Progressive Cardiac Conduction Defect 72 36
Heart Block, Progressive, Type Ia 57 29
Bundle-Branch Block 44 70
Pfhbia 57 72
Pccd 57 72
Hbbd 57 72
Heart Block, Progressive Familial, Type I; Pfhbi 57
Cardiac Conduction Defect, Progressive; Pccd 57
Hereditary Bundle Branch System Defect; Hbbd 57
Heart Block, Progressive, Familial, Type 1a 39
Heart Block, Progressive Familial, Type I 57
Progressive Familial Heart Block Type 1a 20
Heart Block Progressive Familial Type 1 20
Progressive Familial Heart Block Type I 72
Cardiac Conduction Defect, Progressive 57
Progressive Familial Heart Block 1a 72
Conduction Disorder of the Heart 70
Cardiac Conduction Defect 72
Pfhbi 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
sudden death
syncopal episodes
stokes-adams attacks
genetic heterogeneity (see )

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111074
OMIM® 57 113900
OMIM Phenotypic Series 57 PS113900
KEGG 36 H01263
MeSH 44 D002037
UMLS 70 C0006384 C0264886 C1879286

Summaries for Progressive Familial Heart Block, Type Ia

OMIM® : 57 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). (113900) (Updated 05-Apr-2021)

MalaCards based summary : Progressive Familial Heart Block, Type Ia, also known as heart block, nonprogressive, is related to left bundle branch hemiblock and ventricular fibrillation, paroxysmal familial, 1, and has symptoms including dyspnea, chest pain and syncopal episode. An important gene associated with Progressive Familial Heart Block, Type Ia is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Developmental Biology and Activation of cAMP-Dependent PKA. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and atrioventricular node, and related phenotypes are sudden cardiac death and dyspnea

Disease Ontology : 12 A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has material basis in mutation in the SCN5A gene on chromosome 3p21.

KEGG : 36 Progressive cardiac conduction defect (PCCD) is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular block causing syncope and sudden death. Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for PCCD. Furthermore, another PCCD is caused by mutations in TRPM4.

UniProtKB/Swiss-Prot : 72 Progressive familial heart block 1A: 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.

Related Diseases for Progressive Familial Heart Block, Type Ia

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 Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 310)
# Related Disease Score Top Affiliating Genes
1 left bundle branch hemiblock 33.3 SCN5A DSP
2 ventricular fibrillation, paroxysmal familial, 1 32.4 SCN5A DSP
3 atrioventricular block 31.7 SCN5A SCN1A GJA5
4 atrial standstill 1 31.5 SCN5A GJA5 DSP
5 cardiac conduction defect 31.4 SCN5A DSP
6 third-degree atrioventricular block 31.3 SCN5A GJA5
7 atrial fibrillation 30.7 SCN5A GJA5 ANK2
8 cardiac arrest 30.7 SCN5A DSP ANK2
9 sick sinus syndrome 30.6 SCN5A GJA5 ANK2
10 arrhythmogenic right ventricular cardiomyopathy 30.6 SCN5A DSP ANK2
11 left ventricular noncompaction 30.4 SCN5A GJA5 DSP
12 cardiac arrhythmia 30.4 SCN5A DSP ANK2
13 hypertrophic cardiomyopathy 30.3 SCN5A GJA5 DSP ANK2
14 brugada syndrome 30.3 SCN9A SCN8A SCN5A SCN3A SCN1A GJA5
15 sinoatrial node disease 30.3 SCN5A GJA5 ANK2
16 familial long qt syndrome 30.1 SCN5A DSP ANK2
17 focal epilepsy 29.8 SCN8A SCN3A SCN1A
18 progressive familial heart block 29.7 SCN5A SCN3A GJA5 DSP
19 long qt syndrome 3 29.7 SCN5A SCN1A ANK2
20 long qt syndrome 29.7 SCN8A SCN5A SCN1A DSP ANK2
21 right bundle branch block 12.1
22 brugada syndrome 1 11.6
23 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 11.5
24 wolff-parkinson-white syndrome 11.5
25 bundle branch block, familial isolated complete right 11.4
26 arrhythmogenic right ventricular dysplasia, familial, 1 11.3
27 heart-hand syndrome, spanish type 11.3
28 brugada syndrome 2 11.3
29 brugada syndrome 3 11.3
30 brugada syndrome 4 11.3
31 brugada syndrome 5 11.3
32 brugada syndrome 6 11.3
33 brugada syndrome 7 11.3
34 brugada syndrome 8 11.3
35 brugada syndrome 9 11.3
36 arrhythmogenic right ventricular dysplasia, familial, 14 11.3
37 kearns-sayre syndrome 11.1
38 acute myocardial infarction 11.1
39 myocardial infarction 11.0
40 congestive heart failure 11.0
41 dilated cardiomyopathy 11.0
42 syncope 11.0
43 heart disease 10.9
44 lipoprotein quantitative trait locus 10.9
45 arteries, anomalies of 10.9
46 heart septal defect 10.9
47 ischemia 10.8
48 ventricular septal defect 10.8
49 first-degree atrioventricular block 10.7
50 second-degree atrioventricular block 10.7

Comorbidity relations with Progressive Familial Heart Block, Type Ia via Phenotypic Disease Network (PDN): (show all 22)


Acute Cystitis Aortic Valve Disease 1
Bronchitis Cardiac Arrest
Chronic Kidney Disease Deficiency Anemia
Familial Atrial Fibrillation First-Degree Atrioventricular Block
Generalized Atherosclerosis Heart Disease
Hypertension, Essential Intermediate Coronary Syndrome
Left Bundle Branch Hemiblock Mitral Valve Disease
Peripheral Vascular Disease Postinflammatory Pulmonary Fibrosis
Respiratory Failure Right Bundle Branch Block
Sinoatrial Node Disease Third-Degree Atrioventricular Block
Transient Cerebral Ischemia Tricuspid Valve Disease

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



Diseases related to Progressive Familial Heart Block, Type Ia

Symptoms & Phenotypes for Progressive Familial Heart Block, Type Ia

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 dyspnea 31 HP:0002094
3 syncope 31 HP:0001279
4 right bundle branch block 31 HP:0011712
5 sudden death 31 HP:0001699
6 left anterior fascicular block 31 HP:0011711
7 complete heart block with broad qrs complexes 31 HP:0005170
8 left posterior fascicular block 31 HP:0005172

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
dyspnea

Cardiovascular Heart:
right bundle branch block
bundle branch disease
left anterior or posterior hemiblock
complete heart block with broad rs complexes

Clinical features from OMIM®:

113900 (Updated 05-Apr-2021)

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


dyspnea; chest pain; syncopal episode

Drugs & Therapeutics for Progressive Familial Heart Block, Type Ia

Drugs for Progressive Familial Heart Block, Type Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 1, Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
4
Clonidine Approved Phase 2 4205-90-7 2803
5 Anesthetics Phase 2
6 Anesthetics, Local Phase 2
7 Neurotransmitter Agents Phase 2
8 Anti-Arrhythmia Agents Phase 2
9 Adrenergic Agonists Phase 2
10 Adrenergic alpha-Agonists Phase 2
11 Sodium Channel Blockers Phase 2
12 Adrenergic Agents Phase 2
13 Antihypertensive Agents Phase 2
14 Sympatholytics Phase 2
15 Diuretics, Potassium Sparing Phase 2
16 Analgesics Phase 2
17 Vasodilator Agents Phase 1, Phase 2
18 Pharmaceutical Solutions Phase 1, Phase 2
19 Vasoconstrictor Agents Phase 1, Phase 2
20 Calcium, Dietary Phase 1, Phase 2
21
Calcium Nutraceutical Phase 1, Phase 2 7440-70-2 271
22
Prednisolone Approved, Vet_approved 50-24-8 5755
23
Methylprednisolone Approved, Vet_approved 83-43-2 6741
24
Prednisolone acetate Approved, Vet_approved 52-21-1
25
Methylprednisolone hemisuccinate Approved 2921-57-5
26
Prednisolone phosphate Approved, Vet_approved 302-25-0
27
Chlorhexidine Approved, Vet_approved 55-56-1 2713 9552079
28
Nimodipine Approved, Investigational 66085-59-4 4497
29
Prednisolone hemisuccinate Experimental 2920-86-7
30 Chlorhexidine gluconate
31 Methylprednisolone Acetate

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 Assessment of the Prognosis of Persistent Left Bundle Branch Block (LBBB) After Transcatheter Aortic Valve Implantation (TAVI ) by an Electrophysiological and Remote Monitoring Risk-adapted Algorithm Unknown status NCT02482844 Phase 4
2 Resynchronization in Paced Heart Failure Patients With ICD Indication Unknown status NCT01415024 Phase 4
3 Effect of Cardiac Resynchronization Therapy on Skeletal Muscle Histology, Neuroendocrine Activation and Inflammatory Response Completed NCT01019915 Phase 4
4 MADIT ASIA Cardiac Resynchronization Trial (MADIT-ASIA) Terminated NCT01872234 Phase 3
5 The Effects of Different Clonidine Concentrations on Axillary Brachial Plexus Block With 1,5% Lidocaine for Upper Limb Surgery: a Prospective Randomized Study Completed NCT01620112 Phase 2 high Clonidine concentration;low clonidine concentration;Lidocaine;Lidocaine 40 ml
6 Washington Study of Hemofiltration After Out-of-Hospital Cardiac Arrest Completed NCT01509040 Phase 1, Phase 2
7 Congenital or Idiopathic Complete Right Bundle Branch Block: Physiological Significance and Molecular Characterization Unknown status NCT00173342
8 HV Electrophysiology Study In Transcatheter Aortic Valve Implantation Patients Unknown status NCT02659137
9 Management of Acute Myocardial Infarction in the Presence of Left Bundle Branch Block Unknown status NCT01494870
10 Cohort Description of Younger With AV-block Unknown status NCT03024047
11 Left Ventricular Septal Pacing: Potential Application for Cardiac Resynchronization Therapy Unknown status NCT03415945
12 Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect Completed NCT01480908
13 Cardiac Resynchronization Therapy (CRT) Implant Strategy Using the Longest Electrical Delay for Non-left Bundle Branch Block Patients (ENHANCE CRT). A Prospective, Randomized, Postmarket, Pilot Study. Completed NCT01983293
14 Direct HIS-pacing as an Alternative to Biventricular Pacing in Symptomatic Heart Failure Patients With Severely Reduced LVEF and a True Left Bundle Branch Block Completed NCT03614169
15 Pacemaker Utilization and Ventricular Pacing in Patients Undergoing Trans-catheter Aortic Valve Replacement (TAVR) Completed NCT02994667
16 Tailor-CRT: Better Application of Cardiac Resynchronization Therapy by Automated and Improved Selection of Location and Timing of Stimulation Completed NCT02326493
17 Conventional Versus EP-Catheter Guided Implantation of Coronary Sinus Lead in Patients Undergoing Cardiac Resynchronization Therapy Completed NCT01922544
18 Serial Evaluation of Left Bundle Branch Block; Role of New Imaging Techniques. Three-Dimensional Echocardiography, Tissue Doppler Imaging, and Magnetic Resonance Imaging Completed NCT00269659
19 Real-Time Intracardiac Impedograms of Left Ventricular Leads to Locate Sites of Latest Mechanical Delay in Cardiac Resynchronization Therapy Completed NCT01129635
20 Corrected QT Interval in Patients With Pacemaker Dependency (QT-TENDENCY-Study) Completed NCT01694550
21 Edwards SAPIEN 3 PPI Registry - A Retrospective Survey and Prospective Identification of Procedure Related Variables Associated With Permanent Pacemaker Implantation in Patients Receiving an Edwards SAPIEN 3 Valve Completed NCT03497611
22 AV Optimisation Delivered With Direct His Bundle Pacing, in Patients With Heart Failure, Long PR Without Left Bundle Branch Block: Randomised Multi-centre Clinical Outcome Study. Completed NCT02671903
23 Bifocal Right Ventricular PAcing in Right Bundle Branch blocK and Heart Failure With Reduced Ejection Fraction Recruiting NCT03524001
24 Morphological and Functional Changes, Risk Stratification and Prognosis of Patients With Compete Left Bundle Branch Block Recruiting NCT03096678
25 Prediction of Heart-failure and Mortality by Echocardiographic Parameters and Machine Learning in Individuals With Left Bundle Branch Block Recruiting NCT04293471
26 Non-invasive Mapping Using Ultra-high Frequency Electrocardiography Recruiting NCT04537455
27 Comparison of a Clinical Monitoring Strategy Versus Electrophysiology-guided Algorithmic Approach in Patients With a New Left Bundle Branch Block After Transcatheter Aortic Valve Implantation (TAVI) a Bayesian Randomized Trial (COME-TAVI) Recruiting NCT03303612
28 Right Ventricular Septal Pacing in Patients With Right Bundle Branch Block and Heart Failure, a Pilot Clinical Trial (The SPARK Trial) Recruiting NCT02441101
29 Pacing for Cardiac Resynchronisation Using the Intrinsic Conduction System to Maintain Physiologic Ventricular Activation Recruiting NCT04416958
30 Registry of His Bundle, Bachmann Bundle and Left Bundle Branch Area Pacing for Various Pacing Indications Recruiting NCT04749836
31 Comparison of the Effectiveness of Ultrasound-guided Versus Radioguided Medial Lumbar Bundle Branch Block Recruiting NCT04658953
32 Direct HIS/LBB Pacing as an Alternative to Biventricular Pacing in Patients With Symptomatic Heart Failure Despite Optimal Medical Treatment and an ECG With a Typical Left Bundle Branch Block Pattern. Recruiting NCT04409119
33 Mapping and Pacing of the His Bundle for Heart Failure Patients With Left Bundle Branch Block Recruiting NCT03803995
34 Edwards SAPIEN 3 PPI Registry - A Retrospective Survey and Prospective Identification of Procedure Related Variables Associated With Permanent Pacemaker Implantation in Patients Receiving an Edwards SAPIEN 3 Valve Recruiting NCT03715894
35 Mid-Q Response Study Recruiting NCT04180696
36 Does Targeted LV Lead Positioning Towards Latest Local Electric Activation at CRT Implantation Reduce Incidence of the Combined Endpoint "Death or Non-planned Hospitalisation for Heart Failure (HF)" in Patients With HF and Prolonged QRS Recruiting NCT03280862
37 Ambulatory Electrocardiographic Monitoring for the Detection of High-Degree Atrio-Ventricular Block in Patients With New-onset PeRsistent LEft Bundle Branch Block After Transcatheter Aortic Valve Implantation. The "MARE" Study Recruiting NCT02153307
38 A Single-Arm Prospective, Multi-Centered Study to Assess the SHERLOCK 3CG™ Diamond Tip Confirmation System Recruiting NCT03288766
39 Evaluation of Mechanisms and Innovations in Cardiac Resynchronization Therapy Recruiting NCT04221763
40 Changes in Infranodal Conduction Times and New Onset Left Bundle Branch Block: Possible Predictors for High-grade AV Block Following Transcatheter Aortic Valve Replacement Recruiting NCT04128384
41 Permanent Left Bundle Branch Area Pacing for Atrioventricular Block Recruiting NCT03851315
42 AdaptResponse Clinical Trial Active, not recruiting NCT02205359
43 Adaptive CRT Effect on Electrical Dyssynchrony Active, not recruiting NCT02543281
44 Investigating Inhomogeneities of Regional Myocardial WORKload and Metabolism in a Cardiac Resynchronisation Therapy Patient Population Active, not recruiting NCT02537782
45 Characterization of Acute and Long Term Response to Left Ventricle Only Pacing Combined With MultiPoint Pacing and SyncAV Enrolling by invitation NCT03567096
46 Clinical, Structural and Mechanical Features in Patients With Left Bundle Branch Block: an Observational and Prospective Study. Not yet recruiting NCT04328649
47 Acute Hemodynamic Effects of His-bundle Pacing in Bi-Ventricular Pacing Non-responders (The HEPA-His Trial) Not yet recruiting NCT04701112
48 Multimodality Assessment of Acute and Long Term Response to Optimised MultiSite Pacing Cardiac Resynchronisation (MSP CRT) Devices Compared to Biventricular (BiV) CRT, in Patients With Heart Failure Not yet recruiting NCT03938090
49 Correlation of Clinical Outcomes With ECG Findings in Patients With Left Bundle Branch Block Being Evaluated for Acute Coronary Syndrome - a Prospective Cohort Study Terminated NCT02283619
50 Pacing Affects Cardiovascular Endpoints in Patients With Right Bundle-Branch Block (The PACE-RBBB Trial) Terminated NCT01169493

Search NIH Clinical Center for Progressive Familial Heart Block, Type Ia

Cochrane evidence based reviews: bundle-branch block

Genetic Tests for Progressive Familial Heart Block, Type Ia

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

# Genetic test Affiliating Genes
1 Progressive Familial Heart Block, Type 1a 29 SCN5A
2 Heart Block, Nonprogressive 29
3 Heart Block, Progressive, Type Ia 29

Anatomical Context for Progressive Familial Heart Block, Type Ia

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

40
Heart, Brain, Atrioventricular Node, Lung, Kidney, Skeletal Muscle, Spinal Cord

Publications for Progressive Familial Heart Block, Type Ia

Articles related to Progressive Familial Heart Block, Type Ia:

(show top 50) (show all 9235)
# Title Authors PMID Year
1
Cardiac conduction defects associate with mutations in SCN5A. 6 57
10471492 1999
2
Hereditary right axis deviation: electrocardiographic pattern of pseudo left posterior hemiblock and incomplete right bundle branch block. 61 57
3170041 1988
3
Progressive familial heart block--two types. 61 57
897853 1977
4
Familial right bundle-branch block, left axis deviation, complete heart block, and early death. A heritable disorder of cardiac conduction. 61 57
4721176 1973
5
Familial bundle branch block. 57 61
13880751 1962
6
Four cases of benign left bundle branch block in the same family. 61 57
13292336 1956
7
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 6
18378609 2008
8
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 6
12569159 2003
9
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. 6
11997281 2002
10
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 6
11804990 2002
11
A sodium-channel mutation causes isolated cardiac conduction disease. 6
11234013 2001
12
Gene for progressive familial heart block type I maps to chromosome 19q13. 57
7882468 1995
13
Progressive familial heart block (type I). A follow-up study after 10 years. 57
3347879 1988
14
Familial combined sinus node and atrioventricular conduction dysfunctions. 57
3583460 1987
15
Progressive familial heart block. Part II. Clinical and ECG confirmation of progression--report on 4 cases. 57
3750143 1986
16
Familial fascicular block: histologic features of Lev's disease. 57
4003252 1985
17
[Adult familial idiopathic binodal block]. 57
120710 1979
18
Chronic bifascicular block: evaluation of familial factors. 57
1275353 1976
19
Hereditary progressive atrioventricular conduction defect. 57
1166834 1975
20
Familial atrial dysrhythmia with A-V block. Intracellular microelectrode, clinical electrophysiologic, and morphologic observations. 57
4430108 1974
21
Sick sinus syndrome in a patient with familial PR prolongation. 57
4743961 1973
22
Familial congenital bundle branch system disease. 57
4725592 1973
23
Familial trifascicular block. 57
4669898 1972
24
Familial atrial cardiomyopathy with heart block. 57
4636548 1972
25
Familial heart block and sinus bradycardia. Classification and natural history. 57
5016825 1972
26
The pathogenesis of atrioventricular block in coronary disease. 57
5451227 1970
27
CONGENITAL FAMILIAL CARDIAC CONDUCTION DEFECTS. 57
14314488 1965
28
Congenital arrhythmias and conduction abnormalities in a father and four children. 57
13749673 1961
29
Congenital complete atrioventricular block: problems of clinical assessment. 57
13561489 1958
30
Familial congenital complete A-V heart block. 57
20251319 1947
31
Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation. 54 61
16643399 2006
32
Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 61 54
15520322 2004
33
Mutational screening of SCN5A linked disorders in Polish patients and their family members. 61 54
15306732 2004
34
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 61 54
11748104 2001
35
Connexin-40, bundle-branch block, and propagation at the Purkinje-myocyte junction. 54 61
11073876 2000
36
Acute myocardial infarction and complete bundle branch block at hospital admission: clinical characteristics and outcome in the thrombolytic era. GUSTO-I Investigators. Global Utilization of Streptokinase and t-PA [tissue-type plasminogen activator] for Occluded Coronary Arteries. 61 54
9426026 1998
37
A comparison of reteplase with alteplase for acute myocardial infarction. 61 54
9340503 1997
38
Incidence and clinical relevance of the occurrence of bundle-branch block in patients treated with thrombolytic therapy. 61 54
8921783 1996
39
Cardiac conduction abnormalities in patients with degenerated bioprostheses undergoing transcatheter aortic valve-in-valve implantations and their impact on long-term outcomes. 61
33592238 2021
40
Transcatheter aortic valve replacement performed with selective telemetry monitoring: A prospective study. 61
33621627 2021
41
Risk Factors for Postoperative Pacemaker Implantation After Rapid Deployment Aortic Valve Replacement: Results from the RADAR Registry. 61
33665760 2021
42
Epicardial adipose tissue predicted prolonged QTc interval in patients with arterial hypertension. 61
33183070 2021
43
Impact of QRS morphology on response to conduction system pacing after atrioventricular junction ablation. 61
33395736 2021
44
Lung Perfusion Scintigraphy in Pulmonary Vein Occlusion After Radiofrequency Ablation. 61
33492855 2021
45
Evaluation of the incidence, timing, and potential recovery rates of complete atrioventricular block after transcatheter aortic valve implantation: a Japanese multicenter registry study. 61
32418052 2021
46
Early and late post-operative arrhythmias after surgical myectomy: 45 years of follow-up. 61
33271205 2021
47
Case 288: Uhl Anomaly. 61
33750225 2021
48
Electrocardiographic features and their echocardiographic correlates in peripartum cardiomyopathy: results from the ESC EORP PPCM registry. 61
33453082 2021
49
Presence of contractile impairment appears crucial for structural remodeling in idiopathic left bundle-branch block. 61
33789682 2021
50
Impact of Baseline Right Bundle Branch Block on Outcomes After Pulmonary Vein Isolation in Patients With Atrial Fibrillation. 61
33385350 2021

Variations for Progressive Familial Heart Block, Type Ia

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

6 (show top 50) (show all 249)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 GRCh37: 3:38591991-38591991
GRCh38: 3:38550500-38550500
2 SCN5A NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn) SNV Pathogenic 9385 rs137854607 GRCh37: 3:38595800-38595800
GRCh38: 3:38554309-38554309
3 SCN5A NM_198056.2(SCN5A):c.1535C>T (p.Thr512Ile) SNV Pathogenic 440849 rs199473118 GRCh37: 3:38645558-38645558
GRCh38: 3:38604067-38604067
4 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 GRCh37: 3:38655272-38655272
GRCh38: 3:38613781-38613781
5 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 GRCh37: 3:38648201-38648201
GRCh38: 3:38606710-38606710
6 SCN5A NM_000335.4(SCN5A):c.3960+2T>C SNV Pathogenic 9378 rs397514447 GRCh37: 3:38603904-38603904
GRCh38: 3:38562413-38562413
7 SCN5A NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys) SNV Pathogenic 9386 rs137854606 GRCh37: 3:38645553-38645553
GRCh38: 3:38604062-38604062
8 SCN5A NM_000335.4(SCN5A):c.5128del (p.Ala1710fs) Deletion Pathogenic 9379 rs397514448 GRCh37: 3:38592732-38592732
GRCh38: 3:38551241-38551241
9 DSP NM_004415.4(DSP):c.5051A>G (p.His1684Arg) SNV Likely pathogenic 431487 rs1135401735 GRCh37: 6:7581474-7581474
GRCh38: 6:7581241-7581241
10 SCN5A NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) SNV Likely pathogenic 67667 rs199473119 GRCh37: 3:38645526-38645526
GRCh38: 3:38604035-38604035
11 SCN5A NM_198056.2(SCN5A):c.1491T>G (p.Ser497=) SNV Uncertain significance 345128 rs761505485 GRCh37: 3:38646247-38646247
GRCh38: 3:38604756-38604756
12 SCN5A NM_000335.5(SCN5A):c.2436+12G>A SNV Uncertain significance 36758 rs41312419 GRCh37: 3:38628879-38628879
GRCh38: 3:38587388-38587388
13 SCN5A NM_198056.2(SCN5A):c.1598G>A (p.Arg533His) SNV Uncertain significance 180512 rs146848219 GRCh37: 3:38645495-38645495
GRCh38: 3:38604004-38604004
14 LOC110121269 , SCN5A NM_198056.2(SCN5A):c.2956C>T (p.Arg986Trp) SNV Uncertain significance 201485 rs561547165 GRCh37: 3:38622694-38622694
GRCh38: 3:38581203-38581203
15 SCN5A NM_198056.2(SCN5A):c.4109A>G (p.Asp1370Gly) SNV Uncertain significance 201506 rs775485359 GRCh37: 3:38601774-38601774
GRCh38: 3:38560283-38560283
16 SCN5A NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) SNV Uncertain significance 345125 rs191840835 GRCh37: 3:38639331-38639331
GRCh38: 3:38597840-38597840
17 SCN5A NM_198056.2(SCN5A):c.*296G>A SNV Uncertain significance 345103 rs886058456 GRCh37: 3:38591516-38591516
GRCh38: 3:38550025-38550025
18 SCN5A NM_198056.2(SCN5A):c.*73C>A SNV Uncertain significance 345109 rs886058458 GRCh37: 3:38591739-38591739
GRCh38: 3:38550248-38550248
19 LOC110121269 , SCN5A NM_198056.2(SCN5A):c.3384C>T (p.Cys1128=) SNV Uncertain significance 345119 rs561922849 GRCh37: 3:38620831-38620831
GRCh38: 3:38579340-38579340
20 SCN5A NM_198056.2(SCN5A):c.*1443C>A SNV Uncertain significance 345078 rs886058445 GRCh37: 3:38590369-38590369
GRCh38: 3:38548878-38548878
21 SCN5A NM_198056.2(SCN5A):c.*725C>A SNV Uncertain significance 345094 rs886058451 GRCh37: 3:38591087-38591087
GRCh38: 3:38549596-38549596
22 SCN5A NM_198056.2(SCN5A):c.*1602G>T SNV Uncertain significance 345073 rs886058444 GRCh37: 3:38590210-38590210
GRCh38: 3:38548719-38548719
23 TRPM4 NM_017636.4(TRPM4):c.956_958del (p.Leu319_Ala320delinsPro) Deletion Uncertain significance 329850 rs764918057 GRCh37: 19:49674932-49674934
GRCh38: 19:49171675-49171677
24 SCN5A NM_198056.2(SCN5A):c.*1673C>T SNV Uncertain significance 345072 rs886058443 GRCh37: 3:38590139-38590139
GRCh38: 3:38548648-38548648
25 SCN5A NM_198056.2(SCN5A):c.5971C>T (p.Arg1991Trp) SNV Uncertain significance 345112 rs371308670 GRCh37: 3:38591892-38591892
GRCh38: 3:38550401-38550401
26 SCN5A NM_198056.2(SCN5A):c.*290G>A SNV Uncertain significance 345104 rs886058457 GRCh37: 3:38591522-38591522
GRCh38: 3:38550031-38550031
27 SCN5A NM_198056.2(SCN5A):c.-53+12C>T SNV Uncertain significance 345130 rs886058464 GRCh37: 3:38691010-38691010
GRCh38: 3:38649519-38649519
28 SCN5A NM_198056.2(SCN5A):c.4267G>A (p.Asp1423Asn) SNV Uncertain significance 222810 rs746291609 GRCh37: 3:38598754-38598754
GRCh38: 3:38557263-38557263
29 SCN5A NM_198056.2(SCN5A):c.*382T>C SNV Uncertain significance 345101 rs45459402 GRCh37: 3:38591430-38591430
GRCh38: 3:38549939-38549939
30 SCN5A NM_198056.2(SCN5A):c.-70C>T SNV Uncertain significance 345131 rs886058465 GRCh37: 3:38691039-38691039
GRCh38: 3:38649548-38649548
31 SCN5A NM_198056.2(SCN5A):c.1800G>A (p.Val600=) SNV Uncertain significance 345127 rs758101066 GRCh37: 3:38645293-38645293
GRCh38: 3:38603802-38603802
32 SCN5A NM_198056.2(SCN5A):c.*6G>T SNV Uncertain significance 345110 rs776980213 GRCh37: 3:38591806-38591806
GRCh38: 3:38550315-38550315
33 SCN5A NM_198056.2(SCN5A):c.*516G>T SNV Uncertain significance 345099 rs886058454 GRCh37: 3:38591296-38591296
GRCh38: 3:38549805-38549805
34 SCN5A NM_198056.2(SCN5A):c.*160G>A SNV Uncertain significance 345106 rs772585696 GRCh37: 3:38591652-38591652
GRCh38: 3:38550161-38550161
35 SCN5A NM_198056.2(SCN5A):c.*1932C>T SNV Uncertain significance 345065 rs886058437 GRCh37: 3:38589880-38589880
GRCh38: 3:38548389-38548389
36 LOC110121269 , SCN5A NM_198056.2(SCN5A):c.2988C>T (p.Ala996=) SNV Uncertain significance 345121 rs781529391 GRCh37: 3:38622662-38622662
GRCh38: 3:38581171-38581171
37 SCN5A NM_198056.2(SCN5A):c.4671C>T (p.Ile1557=) SNV Uncertain significance 345116 rs886058461 GRCh37: 3:38595912-38595912
GRCh38: 3:38554421-38554421
38 SCN5A NM_198056.2(SCN5A):c.*1048G>A SNV Uncertain significance 345084 rs886058447 GRCh37: 3:38590764-38590764
GRCh38: 3:38549273-38549273
39 SCN5A NM_198056.2(SCN5A):c.*747G>A SNV Uncertain significance 345093 rs763830252 GRCh37: 3:38591065-38591065
GRCh38: 3:38549574-38549574
40 SCN5A NM_198056.2(SCN5A):c.*204T>C SNV Uncertain significance 345105 rs147795595 GRCh37: 3:38591608-38591608
GRCh38: 3:38550117-38550117
41 SCN5A NM_198056.2(SCN5A):c.*677G>A SNV Uncertain significance 345096 rs45458203 GRCh37: 3:38591135-38591135
GRCh38: 3:38549644-38549644
42 SCN5A NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) SNV Uncertain significance 165156 rs41313703 GRCh37: 3:38648232-38648232
GRCh38: 3:38606741-38606741
43 LOC110121269 , SCN5A NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) SNV Uncertain significance 48300 rs9858585 GRCh37: 3:38620852-38620852
GRCh38: 3:38579361-38579361
44 SCN5A NM_198056.2(SCN5A):c.*486C>T SNV Uncertain significance 345100 rs886058455 GRCh37: 3:38591326-38591326
GRCh38: 3:38549835-38549835
45 SCN5A NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) SNV Uncertain significance 345123 rs878911306 GRCh37: 3:38639223-38639223
GRCh38: 3:38597732-38597732
46 SCN5A NM_198056.2(SCN5A):c.3391-7T>C SNV Uncertain significance 345118 rs41310769 GRCh37: 3:38618279-38618279
GRCh38: 3:38576788-38576788
47 SCN5A NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) SNV Uncertain significance 67712 rs45553235 GRCh37: 3:38639408-38639408
GRCh38: 3:38597917-38597917
48 SCN5A NM_198056.2(SCN5A):c.5692C>T (p.Arg1898Cys) SNV Uncertain significance 518750 rs373118001 GRCh37: 3:38592171-38592171
GRCh38: 3:38550680-38550680
49 SCN5A NM_198056.2(SCN5A):c.5755C>T (p.Arg1919Cys) SNV Uncertain significance 68010 rs199473328 GRCh37: 3:38592108-38592108
GRCh38: 3:38550617-38550617
50 SCN5A NM_000335.4(SCN5A):c.5686C>T (p.Arg1896Trp) SNV Uncertain significance 68003 rs45465995 GRCh37: 3:38592174-38592174
GRCh38: 3:38550683-38550683

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

72
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Gly298Ser VAR_017671 rs137854608
2 SCN5A p.Gly514Cys VAR_017673 rs137854606
3 SCN5A p.Arg1232Trp VAR_017679 rs199473207
4 SCN5A p.Asp1595Asn VAR_017683 rs137854607
5 SCN5A p.Glu161Lys VAR_026344 rs199473062
6 SCN5A p.Gly752Arg VAR_026361 rs199473153
7 SCN5A p.Asp1275Asn VAR_026373 rs137854618
8 SCN5A p.Thr512Ile VAR_036662 rs199473118
9 SCN5A p.Arg225Trp VAR_055164 rs199473072
10 SCN5A p.Thr1620Lys VAR_055201 rs199473282

Expression for Progressive Familial Heart Block, Type Ia

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

Pathways for Progressive Familial Heart Block, Type Ia

Pathways related to Progressive Familial Heart Block, Type Ia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 SCN9A SCN8A SCN5A SCN3A SCN1A DSP
2
Show member pathways
13.15 SCN9A SCN8A SCN5A SCN3A SCN1A
3
Show member pathways
12.67 SCN9A SCN8A SCN5A SCN3A SCN1A GJA5
4
Show member pathways
12.56 SCN9A SCN8A SCN5A SCN3A SCN1A
5
Show member pathways
12.36 SCN9A SCN8A SCN5A SCN3A SCN1A
6 12.29 SCN9A SCN8A SCN5A SCN1A
7
Show member pathways
11.53 SCN9A SCN8A SCN5A SCN3A SCN1A ANK2
8
Show member pathways
11.43 SCN9A SCN8A SCN5A SCN3A SCN1A
9 11.31 SCN5A GJA5 DSP ANK2
10 10.98 GJA5 DSP
11 10.58 SCN9A SCN8A SCN5A SCN3A SCN1A ANK2

GO Terms for Progressive Familial Heart Block, Type Ia

Cellular components related to Progressive Familial Heart Block, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.03 SCN9A SCN8A SCN5A SCN3A SCN1A GJA5
2 cell junction GO:0030054 9.76 SCN8A GJA5 DSP ANK2
3 axon GO:0030424 9.62 SCN9A SCN8A SCN3A SCN1A
4 Z disc GO:0030018 9.46 SCN8A SCN5A SCN1A ANK2
5 T-tubule GO:0030315 9.43 SCN5A SCN1A ANK2
6 axon initial segment GO:0043194 9.4 SCN8A SCN1A
7 node of Ranvier GO:0033268 9.37 SCN8A SCN1A
8 intercalated disc GO:0014704 9.35 SCN5A SCN1A GJA5 DSP ANK2
9 voltage-gated sodium channel complex GO:0001518 9.02 SCN9A SCN8A SCN5A SCN3A SCN1A

Biological processes related to Progressive Familial Heart Block, Type Ia according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.92 SCN9A SCN8A SCN5A SCN3A SCN1A
2 transmembrane transport GO:0055085 9.88 SCN9A SCN8A SCN5A SCN3A SCN1A GJA5
3 ion transmembrane transport GO:0034220 9.83 SCN9A SCN8A SCN5A SCN3A SCN1A
4 regulation of ion transmembrane transport GO:0034765 9.77 SCN9A SCN8A SCN5A SCN3A SCN1A
5 sodium ion transport GO:0006814 9.72 SCN9A SCN8A SCN5A SCN3A SCN1A
6 sodium ion transmembrane transport GO:0035725 9.65 SCN9A SCN8A SCN5A SCN3A SCN1A
7 regulation of heart rate by cardiac conduction GO:0086091 9.63 SCN5A DSP ANK2
8 regulation of heart rate GO:0002027 9.61 SCN5A ANK2
9 regulation of cardiac muscle contraction GO:0055117 9.6 GJA5 ANK2
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.59 SCN5A ANK2
11 ventricular cardiac muscle cell action potential GO:0086005 9.58 SCN5A ANK2
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 SCN5A SCN1A
13 regulation of cardiac muscle cell contraction GO:0086004 9.57 SCN5A ANK2
14 atrial cardiac muscle cell action potential GO:0086014 9.56 SCN5A ANK2
15 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.55 SCN5A GJA5
16 cation transmembrane transport GO:0098655 9.55 SCN9A SCN8A SCN5A SCN3A SCN1A
17 atrial septum development GO:0003283 9.54 GJA5 ANK2
18 membrane depolarization during SA node cell action potential GO:0086046 9.51 SCN5A ANK2
19 SA node cell action potential GO:0086015 9.49 SCN5A ANK2
20 regulation of atrial cardiac muscle cell action potential GO:0098910 9.48 GJA5 ANK2
21 neuronal action potential GO:0019228 9.35 SCN9A SCN8A SCN5A SCN3A SCN1A
22 membrane depolarization during action potential GO:0086010 9.02 SCN9A SCN8A SCN5A SCN3A SCN1A

Molecular functions related to Progressive Familial Heart Block, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.72 SCN9A SCN8A SCN5A SCN3A SCN1A
2 voltage-gated ion channel activity GO:0005244 9.65 SCN9A SCN8A SCN5A SCN3A SCN1A
3 cation channel activity GO:0005261 9.55 SCN9A SCN8A SCN5A SCN3A SCN1A
4 scaffold protein binding GO:0097110 9.37 SCN5A DSP
5 sodium channel activity GO:0005272 9.35 SCN9A SCN8A SCN5A SCN3A SCN1A
6 voltage-gated sodium channel activity GO:0005248 9.02 SCN9A SCN8A SCN5A SCN3A SCN1A

Sources for Progressive Familial Heart Block, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....