PFHB1A
MCID: PRG042
MIFTS: 67

Progressive Familial Heart Block, Type Ia (PFHB1A)

Categories: 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 56
Heart Block, Nonprogressive 56 29 13 6
Bundle Branch Block 56 73 54 17
Pfhb1a 56 12 52 73
Progressive Familial Heart Block Type Ia 12 73 15
Progressive Familial Heart Block Type 1a 52 29 6
Hereditary Bundle Branch System Defect 56 73 71
Progressive Cardiac Conduction Defect 73 36
Heart Block, Progressive, Type Ia 56 29
Lenegre-Lev Disease 56 73
Bundle-Branch Block 43 71
Pfhbia 56 73
Pccd 56 73
Hbbd 56 73
Heart Block, Progressive Familial, Type I; Pfhbi 56
Cardiac Conduction Defect, Progressive; Pccd 56
Hereditary Bundle Branch System Defect; Hbbd 56
Heart Block, Progressive, Familial, Type 1a 39
Heart Block, Progressive Familial, Type I 56
Heart Block Progressive Familial Type 1 52
Progressive Familial Heart Block Type I 73
Cardiac Conduction Defect, Progressive 56
Progressive Familial Heart Block 1a 73
Conduction Disorder of the Heart 71
Cardiac Conduction Defect 73
Pfhbi 56

Characteristics:

OMIM:

56
Miscellaneous:
sudden death
syncopal episodes
stokes-adams attacks
genetic heterogeneity (see )

Inheritance:
autosomal dominant


HPO:

31
progressive familial heart block, type ia:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0111074
OMIM 56 113900
OMIM Phenotypic Series 56 PS113900
KEGG 36 H01263
MeSH 43 D002037
UMLS 71 C0006384 C0264886 C1879286

Summaries for Progressive Familial Heart Block, Type Ia

OMIM : 56 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)

MalaCards based summary : Progressive Familial Heart Block, Type Ia, also known as heart block, nonprogressive, is related to left bundle branch hemiblock and brugada syndrome 9, 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 G-Beta Gamma Signaling. The drugs Valsartan and Carvedilol have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, 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 : 73 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 312)
# Related Disease Score Top Affiliating Genes
1 left bundle branch hemiblock 34.3 SCN5A MYBPC3
2 brugada syndrome 9 32.7 SCN5A MYBPC3
3 wolff-parkinson-white syndrome 32.4 SCN5A MYH7 MYBPC3 GJA5
4 third-degree atrioventricular block 31.9 SCN5A GJA5
5 atrioventricular block 31.5 SCN5A SCN1A MYH7 GJA5
6 first-degree atrioventricular block 31.5 SCN5A MYH7 GJA5
7 mitral valve insufficiency 31.0 MYH7 MYBPC3
8 cardiac conduction defect 31.0 SCN5A MYH7 MYBPC3
9 atrial standstill 1 30.7 SCN5A MYH7 MYBPC3 GJA5
10 cardiac arrhythmia 30.6 SCN5A ANK2
11 hypertrophic cardiomyopathy 30.5 SCN5A MYH7 MYBPC3
12 sick sinus syndrome 30.5 SCN5A GJA5 ANK2
13 atrial heart septal defect 30.5 SCN5A MYH7 GJA5
14 progressive familial heart block 30.4 SCN5A SCN3A GJA5
15 tetralogy of fallot 30.4 SCN5A MYH7 GJA5
16 arrhythmogenic right ventricular cardiomyopathy 30.3 SCN5A MYH7 ANK2
17 cardiac arrest 30.3 SCN5A MYH7 MYBPC3 ANK2
18 dilated cardiomyopathy 30.2 SCN5A MYH7 MYBPC3 GJA5 ANK2
19 sinoatrial node disease 30.1 SCN5A GJA5 ANK2
20 peripartum cardiomyopathy 30.0 SCN5A MYH7
21 long qt syndrome 3 29.9 SCN5A ANK2
22 atrial fibrillation 29.8 SCN5A MYH7 MYBPC3 GJA5 ANK2
23 heart disease 29.7 SCN5A MYH7 MYBPC3 GJA5 ANK2
24 left ventricular noncompaction 29.6 SCN5A MYH7 MYBPC3 GJA5
25 familial isolated dilated cardiomyopathy 29.6 SCN5A MYH7 MYBPC3
26 long qt syndrome 29.4 SCN8A SCN5A MYH7 MYBPC3 ANK2
27 brugada syndrome 28.9 SCN9A SCN8A SCN5A SCN3A SCN1A MYH7
28 cardiomyopathy, dilated, 1e 28.3 SCN5A SCN3A SCN1A MYH7 ANK3
29 right bundle branch block 13.1
30 bundle branch block, familial isolated complete right 12.8
31 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.7
32 brugada syndrome 1 12.3
33 ventricular fibrillation, paroxysmal familial, 1 11.8
34 arrhythmogenic right ventricular dysplasia, familial, 1 11.8
35 kearns-sayre syndrome 11.6
36 emery-dreifuss muscular dystrophy 11.5
37 heart-hand syndrome, spanish type 11.4
38 brugada syndrome 2 11.4
39 brugada syndrome 3 11.4
40 brugada syndrome 4 11.4
41 brugada syndrome 5 11.4
42 brugada syndrome 6 11.4
43 brugada syndrome 7 11.4
44 brugada syndrome 8 11.4
45 leber optic atrophy 11.4
46 emery-dreifuss muscular dystrophy 2, autosomal dominant 11.3
47 neuropathy, ataxia, and retinitis pigmentosa 11.3
48 long-thumb brachydactyly syndrome 11.2
49 spondylometaphyseal dysplasia, sedaghatian type 11.2
50 emery-dreifuss muscular dystrophy 1, x-linked 11.2

Comorbidity relations with Progressive Familial Heart Block, Type Ia via Phenotypic Disease Network (PDN): (show all 21)


Acute Cystitis Aortic Valve Disease 1
Bronchitis Cardiac Arrest
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 7)
# 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 left anterior fascicular block 31 HP:0011711
6 complete heart block with broad qrs complexes 31 HP:0005170
7 left posterior fascicular block 31 HP:0005172

Symptoms via clinical synopsis from OMIM:

56
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

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


dyspnea, chest pain, syncopal episode

MGI Mouse Phenotypes related to Progressive Familial Heart Block, Type Ia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ANK3 MYBPC3 SCN1A SCN3A SCN5A SCN8A
2 mortality/aging MP:0010768 9.76 ANK3 GJA5 MYH7 SCN1A SCN3A SCN5A
3 muscle MP:0005369 9.35 GJA5 MYBPC3 MYH7 SCN5A SCN8A
4 normal MP:0002873 9.1 GJA5 MYH7 SCN1A SCN3A SCN5A SCN9A

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 top 50) (show all 132)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
2
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
3
Eplerenone Approved Phase 4 107724-20-9 150310 443872
4
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
5
Bisoprolol Approved Phase 4 66722-44-9 2405
6
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
7
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
8
Captopril Approved Phase 4 62571-86-2 44093
9
Enalaprilat Approved Phase 4 76420-72-9 6917719
10
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
11
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
12
Ramipril Approved Phase 4 87333-19-5 5362129
13
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
14
Tirofiban Approved Phase 4 144494-65-5 60947
15
Abciximab Approved Phase 4 143653-53-6
16
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
17
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
18
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
19
Povidone Approved Phase 4 9003-39-8
20
Iodine Approved, Investigational Phase 4 7553-56-2 807
21
Povidone-iodine Approved Phase 4 25655-41-8
22
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
23
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
24
Tenecteplase Approved Phase 4 191588-94-0
25
Candesartan Experimental Phase 4 139481-59-7 2541
26 Mineralocorticoids Phase 4
27 Mineralocorticoid Receptor Antagonists Phase 4
28 Natriuretic Agents Phase 4
29 Angiotensin-Converting Enzyme Inhibitors Phase 4
30 diuretics Phase 4
31 Angiotensin Receptor Antagonists Phase 4
32 Antihypertensive Agents Phase 4
33 calcium channel blockers Phase 4
34 Adrenergic beta-1 Receptor Antagonists Phase 4
35 Adrenergic alpha-Antagonists Phase 4
36 Antioxidants Phase 4
37 Natriuretic Peptide, Brain Phase 4
38 Hypolipidemic Agents Phase 4
39 Antimetabolites Phase 4
40 Lipid Regulating Agents Phase 4
41 Adrenergic beta-Antagonists Phase 4
42 Adrenergic Antagonists Phase 4
43 Diuretics, Potassium Sparing Phase 4
44 Anti-Arrhythmia Agents Phase 4
45 Sodium Channel Blockers Phase 4
46 Sympatholytics Phase 4
47 Micronutrients Phase 4
48 Trace Elements Phase 4
49 Anti-Infective Agents Phase 4
50 Chlorhexidine gluconate Phase 4

Interventional clinical trials:

(show top 50) (show all 151)
# 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 Systematic Withdrawal of Neurohumoral Blocker Therapy in Optimally Responding Patients to Cardiac Resynchronization Therapy: the STOP-CRT Trial Completed NCT02200822 Phase 4 beta blockers;RAAS blockers
4 Effect of Cardiac Resynchronization Therapy on Skeletal Muscle Histology, Neuroendocrine Activation and Inflammatory Response Completed NCT01019915 Phase 4
5 Clopidogrel Or Metoprolol in Myocardial Infarction Trial Completed NCT00222573 Phase 4 clopidogrel and metoprolol
6 A Randomized Trial of Carvedilol After Renin-angiotensin System Inhibition in Chronic Chagas Cardiomyopathy Completed NCT01557140 Phase 4 RASi plus carvedilol
7 FATA: Comparison Between Tirofiban and Abciximab in Facilitated Angioplasty With Stent Implantation: Randomized Multicentre Study Completed NCT00383136 Phase 4 tirofiban high-bolus dose regimen;Abciximab
8 Benign Prostatic Hyperplasia and Ischemic Heart DIsease Completed NCT03856242 Phase 4 Tamsulosin Oral Capsule
9 A Randomised Trial on Early Stress Nuclear Scan for Patients Presented to the Emergency Department (ED) With Chest Pain But Non-diagnostic Electrocardiography-Acute Chest Pain Treatment and Evaluation (ACTION) Study Completed NCT00434564 Phase 4
10 Early Effect Of Bezafibrate On Fibrinogen Levels, Inflammatory Response And Clinical Impact, In Patients With ST Elevation Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate
11 A Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Recruiting NCT02347111 Phase 4 Flecainide;Sotalol
12 Comparison of Alcoholic Chlorhexidine 2% Versus Alcoholic Povidone Iodine for Infections Prevention With Cardiac Resynchronization Therapy Device Implantation Active, not recruiting NCT01841242 Phase 4 alcoholic povidone iodine;alcoholic chlorhexidine
13 TRIANA: A Randomized Trial to Compare the Efficay and Safety of Thrombolysis With Primary Angioplasty as Initial Reperfusion Therapy in Older Patients (>= 75 Years Old) With Acute Myocardial Infarction Terminated NCT00257309 Phase 4 Tenecteplase + UFH (+ clopidogrel, since 01/97)
14 The Assessment of Cardiac Magnetic Resonance Imaging Guided Left Ventricular Lead Placement During the Implantation of Cardiac Resynchronisation Therapy on Clinical Outcomes in Patients With Chronic Heart Failure Unknown status NCT01417624 Phase 3
15 Prevention of Coronary Artery in STENT Restenosis With the Combined Use of Pioglitazone and Sirolimus-Eluting Coronary Stent Unknown status NCT00376870 Phase 3 Pioglitazone;Placebo
16 Study to Evaluate the Efficacy and Safety of Paclitaxel Eluting Balloon in St Elevation Myocardial Infarction After Bare Metal Stent Insertion Completed NCT01839890 Phase 3
17 CABG Off or On Pump Revascularization Study (CORONARY) Completed NCT00463294 Phase 3
18 Study to Evaluate the Efficacy and Safety of Paclitaxel Eluting Balloon After Bare Metal Stent Implantation Versus Drug-eluting Stent in St Elevation Myocardial Infarction Recruiting NCT03610347 Phase 3
19 The Effect of Glucocorticoid Therapy on Left Ventricular Remodelling in Acute ST-segment Elevation Myocardial Infarction (RECONSIDER) Recruiting NCT03371784 Phase 2, Phase 3 Hydrocortisone;Placebo
20 Effect of Target Intraoperative Blood Pressure on the Incidence of Post-operative Cognitive Dysfunction in Patients Aged 75 and Older Undergoing General Anesthesia for Non-cardiac Surgery: an International Multicenter Randomized Controlled Trial Suspended NCT02428062 Phase 2, Phase 3 Phenylephrine;Intravenous fluids;Ephedrine;Epinephrine;Norepinephrine;Dopamine
21 MADIT ASIA Cardiac Resynchronization Trial (MADIT-ASIA) Terminated NCT01872234 Phase 3
22 Bivalirudin Infusion for Ventricular Infarction Limitation Terminated NCT02565147 Phase 3 Bivalirudin;Heparin
23 Modafinil vs. Placebo for Hypoactive Delirium in the Critically Ill: A Randomized, Controlled Trial Withdrawn NCT02028260 Phase 3 Modafinil;Placebo
24 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
25 Prevention of Early Readmission in Elderly Congestive Heart Failure Patients Completed NCT00000475 Phase 2
26 Washington Study of Hemofiltration After Out-of-Hospital Cardiac Arrest Completed NCT01509040 Phase 1, Phase 2
27 Intracoronary Injection of Melatonin for Patients With ST-elevation Myocardial Infarction: a Placebo Controlled Randomized Study Completed NCT01172171 Phase 2 Melatonin, N-acetyl-5-methoxytryptamine;Isotonic saline, Natrium chloride
28 Preoperative Ephedrine Attenuates the Hemodynamic Responses of Propofol During Valve Surgery: A Dose Dependent Study Completed NCT01006863 Phase 2 Ephedrine;Placebo;Phenylephrine
29 Rapid Recovery of Left Ventricular Function in Patients With Takotsubo Syndrome Undergoing Systemic Infusion of Adenosine: a Randomized Controlled Trial (TITAN Study) Terminated NCT02867878 Phase 2 Adenosine;Saline solution
30 Phase 1 Study to Assess the Safety of 500mg of Aspirin Added to IV TPA at Standard Doses to Prevent Re-occlusion of Cerebral Vessels After Successful Reperfusion. Withdrawn NCT00417898 Phase 1 Aspirin
31 Management of Acute Myocardial Infarction in the Presence of Left Bundle Branch Block Unknown status NCT01494870
32 Congenital or Idiopathic Complete Right Bundle Branch Block: Physiological Significance and Molecular Characterization Unknown status NCT00173342
33 HV Electrophysiology Study In Transcatheter Aortic Valve Implantation Patients Unknown status NCT02659137
34 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241
35 Predictives Factors of Cardiac Resynchronization Therapy: a Multimodal Analysis Using 2D Speckle Tracking Echocardiography Coupled With MIBG Myocardial Scintigraphy and Heart Failure Biomarkers Unknown status NCT02018029
36 Comparison Between Standard and Bedside Ultrasound Integrated Approach for Risk Stratification of Patients Presenting With Syncope in the Emergency Department Unknown status NCT02781207
37 Studies on Assessment of Left Atrial Distensibility to Predict Late Prognosis in Consecutive Patients Received Echocardiographic Examination Unknown status NCT01171040
38 Clinical Profile of Patients With Pulmonary Hypertension Due to Lung Diseases ( Single Center Experience) Unknown status NCT02774928
39 Tc99m-PYP Scintigraphy in Order to Establish Incidence of Cardiac Transthyretin Amyloidosis Among Patients With Otherwise Unexplained Cardiomyopathies Unknown status NCT03098901
40 Cohort Description of Younger With AV-block Unknown status NCT03024047
41 Effect of Bi-ventricular Pacing on Autonomous Nervous System Unknown status NCT00190138
42 Relevamiento / Encuesta Nacional de Infarto Agudo de Miocardio Con elevación Del ST Unknown status NCT02458885
43 Paced Electrocardiogram Requiring Fast Emergent Coronary Therapy (PERFECT) Study Unknown status NCT02765477
44 Left Atrial Distensibility Guiding Management in Advanced Chronic Heart Failure Unknown status NCT01307722
45 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Unknown status NCT02881671
46 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
47 Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect Completed NCT01480908
48 Conventional Versus EP-Catheter Guided Implantation of Coronary Sinus Lead in Patients Undergoing Cardiac Resynchronization Therapy Completed NCT01922544
49 Serial Evaluation of Left Bundle Branch Block; Role of New Imaging Techniques. Three-Dimensional Echocardiography, Tissue Doppler Imaging, and Magnetic Resonance Imaging Completed NCT00269659
50 Acute Feedback on Left ventrIcular Lead Implantation Location for Cardiac Resynchronization Therapy Completed NCT01996397

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, Testes, Kidney, Lung, Brain, Liver, Atrioventricular Node

Publications for Progressive Familial Heart Block, Type Ia

Articles related to Progressive Familial Heart Block, Type Ia:

(show top 50) (show all 8748)
# Title Authors PMID Year
1
Cardiac conduction defects associate with mutations in SCN5A. 56 6
10471492 1999
2
Hereditary right axis deviation: electrocardiographic pattern of pseudo left posterior hemiblock and incomplete right bundle branch block. 61 56
3170041 1988
3
Progressive familial heart block--two types. 61 56
897853 1977
4
Familial right bundle-branch block, left axis deviation, complete heart block, and early death. A heritable disorder of cardiac conduction. 61 56
4721176 1973
5
Familial bundle branch block. 61 56
13880751 1962
6
Four cases of benign left bundle branch block in the same family. 61 56
13292336 1956
7
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
8
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 6
18378609 2008
9
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 6
12569159 2003
10
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. 6
11997281 2002
11
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 6
11804990 2002
12
A sodium-channel mutation causes isolated cardiac conduction disease. 6
11234013 2001
13
Gene for progressive familial heart block type I maps to chromosome 19q13. 56
7882468 1995
14
Progressive familial heart block (type I). A follow-up study after 10 years. 56
3347879 1988
15
Familial combined sinus node and atrioventricular conduction dysfunctions. 56
3583460 1987
16
Progressive familial heart block. Part II. Clinical and ECG confirmation of progression--report on 4 cases. 56
3750143 1986
17
Familial fascicular block: histologic features of Lev's disease. 56
4003252 1985
18
[Adult familial idiopathic binodal block]. 56
120710 1979
19
Chronic bifascicular block: evaluation of familial factors. 56
1275353 1976
20
Hereditary progressive atrioventricular conduction defect. 56
1166834 1975
21
Familial atrial dysrhythmia with A-V block. Intracellular microelectrode, clinical electrophysiologic, and morphologic observations. 56
4430108 1974
22
Sick sinus syndrome in a patient with familial PR prolongation. 56
4743961 1973
23
Familial congenital bundle branch system disease. 56
4725592 1973
24
Familial trifascicular block. 56
4669898 1972
25
Familial atrial cardiomyopathy with heart block. 56
4636548 1972
26
Familial heart block and sinus bradycardia. Classification and natural history. 56
5016825 1972
27
The pathogenesis of atrioventricular block in coronary disease. 56
5451227 1970
28
CONGENITAL FAMILIAL CARDIAC CONDUCTION DEFECTS. 56
14314488 1965
29
Congenital arrhythmias and conduction abnormalities in a father and four children. 56
13749673 1961
30
Congenital complete atrioventricular block: problems of clinical assessment. 56
13561489 1958
31
Familial congenital complete A-V heart block. 56
20251319 1947
32
Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation. 54 61
16643399 2006
33
Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 54 61
15520322 2004
34
Mutational screening of SCN5A linked disorders in Polish patients and their family members. 54 61
15306732 2004
35
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 54 61
11748104 2001
36
Connexin-40, bundle-branch block, and propagation at the Purkinje-myocyte junction. 54 61
11073876 2000
37
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. 54 61
9426026 1998
38
A comparison of reteplase with alteplase for acute myocardial infarction. 54 61
9340503 1997
39
Incidence and clinical relevance of the occurrence of bundle-branch block in patients treated with thrombolytic therapy. 54 61
8921783 1996
40
Clinical Presentations and Outcomes in Patients Presenting With Acute Cardiac Events and Right Bundle Branch Block. 61
31808355 2020
41
Differences in presentation and clinical outcomes between left or right bundle branch block and ST segment elevation in patients with acute myocardial infarction. 61
32030999 2020
42
A narrow QRS complex during a left bundle branch block morphology wide QRS tachycardia: A clue for manifest or bystander involvement of nodofascicular pathway? 61
31916620 2020
43
Regional myocardial work by cardiac magnetic resonance and non-invasive left ventricular pressure: a feasibility study in left bundle branch block. 61
31599327 2020
44
An S wave in ECG lead V6 predicts poor response to cardiac resynchronization therapy and long-term outcome. 61
31513944 2020
45
Early Repolarization Pattern and Left Ventricular Mass in Hypertrophic Cardiomyopathy. 61
32018270 2020
46
Left bundle branch block-induced cardiomyopathy: Myth or reality? 61
31477316 2020
47
Impact of paced left ventricular dyssynchrony on left ventricular reverse remodeling after cardiac resynchronization therapy. 61
31908084 2020
48
Temporal Occurrence of Arrhythmic Complications After Alcohol Septal Ablation. 61
31973555 2020
49
Can the 12-lead ECG distinguish RVOT from aortic cusp PVCs in pediatric patients? 61
32040211 2020
50
A 63-year-old woman with multiple secondary tumours. 61
31915242 2020

Variations for Progressive Familial Heart Block, Type Ia

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

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_198056.2(SCN5A):c.3963+2T>CSNV Pathogenic 9378 rs397514447 3:38603904-38603904 3:38562413-38562413
2 SCN5A NM_198056.2(SCN5A):c.5131del (p.Ala1711fs)deletion Pathogenic 9379 rs397514448 3:38592732-38592732 3:38551241-38551241
3 SCN5A NM_198056.2(SCN5A):c.665G>A (p.Arg222Gln)SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
4 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys)SNV Pathogenic/Likely pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
5 SCN5A NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn)SNV Pathogenic/Likely pathogenic 9385 rs137854607 3:38595800-38595800 3:38554309-38554309
6 MYBPC3 NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)SNV Pathogenic/Likely pathogenic 36604 rs36211723 11:47360071-47360071 11:47338520-47338520
7 SCN5A NM_000335.5(SCN5A):c.5894C>G (p.Ser1965Cys)SNV Likely pathogenic 684784 3:38591966-38591966 3:38550475-38550475
8 RYR2 NM_001035.3(RYR2):c.243G>A (p.Met81Ile)SNV Likely pathogenic 684806 1:237494252-237494252 1:237330952-237330952
9 ABCC9 NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp)SNV Conflicting interpretations of pathogenicity 45392 rs150036969 12:22040784-22040784 12:21887850-21887850
10 SCN5A NM_198056.2(SCN5A):c.3911C>T (p.Thr1304Met)SNV Conflicting interpretations of pathogenicity 67835 rs199473603 3:38603958-38603958 3:38562467-38562467
11 SCN5A NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys)SNV Conflicting interpretations of pathogenicity 67667 rs199473119 3:38645526-38645526 3:38604035-38604035
12 HRC , TRPM4 NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)SNV Conflicting interpretations of pathogenicity 35486 rs172149856 19:49691898-49691898 19:49188641-49188641
13 HRC , TRPM4 NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)SNV Conflicting interpretations of pathogenicity 35487 rs201907325 19:49685865-49685865 19:49182608-49182608
14 ANK2 NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)SNV Conflicting interpretations of pathogenicity 18056 rs72544141 4:114269433-114269433 4:113348277-113348277
15 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter)SNV Conflicting interpretations of pathogenicity 201546 rs757532106 3:38591991-38591991 3:38550500-38550500
16 SCN5A NM_198056.2(SCN5A):c.5795C>T (p.Ala1932Val)SNV Conflicting interpretations of pathogenicity 582721 rs371194826 3:38592068-38592068 3:38550577-38550577
17 SCN5A NM_198056.2(SCN5A):c.2924G>A (p.Arg975Gln)SNV Uncertain significance 201483 rs753149586 3:38622726-38622726 3:38581235-38581235
18 SCN5A NM_198056.2(SCN5A):c.2399G>A (p.Arg800His)SNV Uncertain significance 222807 rs566251672 3:38628928-38628928 3:38587437-38587437
19 RYR2 NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr)SNV Uncertain significance 229220 rs767728159 1:237777844-237777844 1:237614544-237614544
20 SCN5A NM_198056.2(SCN5A):c.892G>A (p.Gly298Ser)SNV Uncertain significance 9387 rs137854608 3:38651267-38651267 3:38609776-38609776
21 SCN5A NM_198056.2(SCN5A):c.1535C>T (p.Thr512Ile)SNV Uncertain significance 67665 rs199473118 3:38645558-38645558 3:38604067-38604067
22 SCN5A NM_198056.2(SCN5A):c.5786G>A (p.Arg1929His)SNV Uncertain significance 179372 rs727504822 3:38592077-38592077 3:38550586-38550586
23 SCN5A NM_198056.2(SCN5A):c.152C>T (p.Ala51Val)SNV Uncertain significance 179791 rs727505131 3:38674647-38674647 3:38633156-38633156
24 SCN5A NM_198056.2(SCN5A):c.1282G>A (p.Glu428Lys)SNV Uncertain significance 30048 rs199473111 3:38647498-38647498 3:38606007-38606007
25 SCN5A NM_198056.2(SCN5A):c.3118G>A (p.Gly1040Arg)SNV Uncertain significance 67779 rs199473186 3:38622532-38622532 3:38581041-38581041
26 SCN5A NM_198056.2(SCN5A):c.3556G>A (p.Ala1186Thr)SNV Uncertain significance 67802 rs199473595 3:38616898-38616898 3:38575407-38575407
27 SCN5A NM_198056.2(SCN5A):c.880G>A (p.Val294Met)SNV Uncertain significance 68054 rs199473086 3:38651279-38651279 3:38609788-38609788
28 MYH6 NM_002471.3(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)indel Uncertain significance 239179 rs878854502 14:23853739-23853740 14:23384530-23384531
29 SCN5A NM_198056.2(SCN5A):c.3080G>A (p.Arg1027Gln)SNV Uncertain significance 520458 rs763891399 3:38622570-38622570 3:38581079-38581079
30 SCN5A NM_198056.2(SCN5A):c.5904C>G (p.Ile1968Met)SNV Uncertain significance 68018 rs199473333 3:38591959-38591959 3:38550468-38550468
31 SCN5A NM_198056.2(SCN5A):c.5803G>A (p.Gly1935Ser)SNV Uncertain significance 68011 rs199473637 3:38592060-38592060 3:38550569-38550569
32 SCN5A NM_198056.2(SCN5A):c.5738G>A (p.Arg1913His)SNV Uncertain significance 68009 rs199473327 3:38592125-38592125 3:38550634-38550634
33 SCN5A NM_198056.2(SCN5A):c.5689C>T (p.Arg1897Trp)SNV Uncertain significance 68003 rs45465995 3:38592174-38592174 3:38550683-38550683
34 SCN5A NM_198056.2(SCN5A):c.4786T>A (p.Phe1596Ile)SNV Uncertain significance 67924 rs199473278 3:38595797-38595797 3:38554306-38554306
35 MYH6 NM_002471.3(MYH6):c.4060G>A (p.Glu1354Lys)SNV Uncertain significance 684804 14:23858183-23858183 14:23388974-23388974
36 MYBPC3 NM_000256.3(MYBPC3):c.20A>C (p.Lys7Thr)SNV Uncertain significance 684792 11:47374179-47374179 11:47352628-47352628
37 KCNQ1 NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro)SNV Uncertain significance 684795 11:2466402-2466402 11:2445172-2445172
38 ANK2 NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile)SNV Uncertain significance 684796 rs770289485 4:114279019-114279019 4:113357863-113357863
39 MYH7 NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)SNV Uncertain significance 660218 14:23885410-23885410 14:23416201-23416201
40 SCN5A NM_198056.2(SCN5A):c.1673A>G (p.His558Arg)SNV Benign/Likely benign 48289 rs1805124 3:38645420-38645420 3:38603929-38603929

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

73
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 SCN9A SCN8A SCN5A SCN3A SCN1A ANK3
2
Show member pathways
12.67 SCN9A SCN8A SCN5A SCN3A SCN1A GJA5
3
Show member pathways
12.46 SCN9A SCN8A SCN5A SCN3A SCN1A MYBPC3
4
Show member pathways
12.36 SCN9A SCN8A SCN5A SCN3A SCN1A
5 12.29 SCN9A SCN8A SCN5A SCN1A
6
Show member pathways
11.6 SCN9A SCN8A SCN5A SCN3A SCN1A ANK3
7
Show member pathways
11.43 SCN9A SCN8A SCN5A SCN3A SCN1A
8 11.36 SCN5A GJA5 ANK2
9 10.64 SCN9A SCN8A SCN5A SCN3A SCN1A ANK3

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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.11 SCN9A SCN8A SCN5A SCN3A SCN1A GJA5
2 axon GO:0030424 9.8 SCN9A SCN8A SCN3A SCN1A ANK3
3 T-tubule GO:0030315 9.62 SCN5A SCN1A ANK3 ANK2
4 sarcolemma GO:0042383 9.61 SCN5A ANK3 ANK2
5 axon initial segment GO:0043194 9.56 SCN8A SCN1A ANK3 ANK2
6 intercalated disc GO:0014704 9.55 SCN5A SCN1A GJA5 ANK3 ANK2
7 node of Ranvier GO:0033268 9.54 SCN8A SCN1A ANK3
8 costamere GO:0043034 9.49 ANK3 ANK2
9 myosin filament GO:0032982 9.48 MYH7 MYBPC3
10 A band GO:0031672 9.46 MYBPC3 ANK2
11 Z disc GO:0030018 9.43 SCN8A SCN5A SCN1A MYH7 ANK3 ANK2
12 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 29)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 SCN9A SCN8A SCN5A SCN3A SCN1A
2 transmembrane transport GO:0055085 9.93 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 cardiac muscle contraction GO:0060048 9.72 SCN5A MYH7 MYBPC3
6 regulation of heart rate by cardiac conduction GO:0086091 9.69 SCN5A GJA5 ANK2
7 regulation of heart rate GO:0002027 9.67 SCN5A MYH7 ANK2
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.65 SCN5A GJA5 ANK2
9 sodium ion transport GO:0006814 9.65 SCN9A SCN8A SCN5A SCN3A SCN1A
10 cardiac conduction GO:0061337 9.64 SCN5A GJA5
11 muscle filament sliding GO:0030049 9.64 MYH7 MYBPC3
12 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.63 MYH7 MYBPC3
13 regulation of cardiac muscle contraction GO:0055117 9.63 GJA5 ANK2
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 SCN5A SCN1A
15 positive regulation of sodium ion transport GO:0010765 9.62 SCN5A ANK3
16 regulation of cardiac muscle cell contraction GO:0086004 9.61 SCN5A ANK2
17 atrial cardiac muscle cell action potential GO:0086014 9.61 SCN5A ANK2
18 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.6 SCN5A GJA5
19 positive regulation of cation channel activity GO:2001259 9.59 ANK3 ANK2
20 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.58 SCN5A GJA5
21 atrial septum development GO:0003283 9.58 GJA5 ANK2
22 ventricular cardiac muscle cell action potential GO:0086005 9.58 SCN5A GJA5 ANK2
23 membrane depolarization during SA node cell action potential GO:0086046 9.56 SCN5A ANK2
24 sodium ion transmembrane transport GO:0035725 9.55 SCN9A SCN8A SCN5A SCN3A SCN1A
25 regulation of atrial cardiac muscle cell action potential GO:0098910 9.54 GJA5 ANK2
26 AV node cell to bundle of His cell communication GO:0086067 9.52 SCN5A GJA5
27 SA node cell action potential GO:0086015 9.5 SCN5A GJA5 ANK2
28 membrane depolarization during action potential GO:0086010 9.35 SCN9A SCN8A SCN5A SCN3A SCN1A
29 neuronal action potential GO:0019228 9.1 SCN9A SCN8A SCN5A SCN3A SCN1A ANK3

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 9.65 SCN9A SCN8A SCN5A SCN3A SCN1A
2 voltage-gated ion channel activity GO:0005244 9.55 SCN9A SCN8A SCN5A SCN3A SCN1A
3 ion channel binding GO:0044325 9.5 SCN5A ANK3 ANK2
4 spectrin binding GO:0030507 9.37 ANK3 ANK2
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....