PFHB1A
MCID: PRG042
MIFTS: 58

Progressive Familial Heart Block, Type Ia (PFHB1A)

Categories: Genetic diseases, Rare diseases, Cardiovascular 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 75 29 55
Pfhb1a 57 12 53 75
Progressive Familial Heart Block Type 1a 53 29 6
Hereditary Bundle Branch System Defect 57 75 73
Progressive Familial Heart Block Type Ia 12 75
Progressive Cardiac Conduction Defect 75 37
Lenegre-Lev Disease 57 75
Bundle-Branch Block 44 73
Pfhbia 57 75
Pccd 57 75
Hbbd 57 75
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 40
Heart Block, Progressive Familial, Type I 57
Heart Block Progressive Familial Type 1 53
Progressive Familial Heart Block Type I 75
Cardiac Conduction Defect, Progressive 57
Progressive Familial Heart Block 1a 75
Heart Block, Progressive, Type Ia 57
Conduction Disorder of the Heart 73
Cardiac Conduction Defect 75
Pfhbi 57

Characteristics:

OMIM:

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

Inheritance:
autosomal dominant


HPO:

32
progressive familial heart block, type ia:
Mortality/Aging sudden death
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Progressive Familial Heart Block, Type Ia, also known as heart block, nonprogressive, is related to progressive familial heart block and atrial standstill 1, and has symptoms including chest pain, dyspnea 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 Antiarrhythmic Pathway, Pharmacodynamics and NOTCH1 regulation of human endothelial cell calcification. The drugs Bisoprolol and Candesartan cilexetil 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

UniProtKB/Swiss-Prot : 75 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.

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.

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 all 19)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block 28.9 GJA5 SCN5A
2 atrial standstill 1 28.5 GJA5 SCN5A
3 right bundle branch block 12.8
4 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.4
5 cardiac conduction defect 12.4
6 bundle branch block, familial isolated complete right 12.3
7 progressive familial heart block, type ib 12.2
8 left bundle branch hemiblock 12.0
9 brugada syndrome 1 11.8
10 brugada syndrome 11.7
11 wolff-parkinson-white syndrome 11.6
12 ventricular fibrillation, paroxysmal familial, 1 11.5
13 familial progressive cardiac conduction defect 9.9
14 first-degree atrioventricular block 9.4 GJA5 SCN5A
15 atrial standstill 9.4 GJA5 SCN5A
16 sinoatrial node disease 9.3 GJA5 SCN5A
17 heart conduction disease 9.2 GJA5 SCN5A
18 familial atrial fibrillation 8.9 GJA5 SCN5A
19 atrial fibrillation 8.8 GJA5 PLAT SCN5A

Comorbidity relations with Progressive Familial Heart Block, Type Ia via Phenotypic Disease Network (PDN): (show all 24)


Acute Cystitis Aortic Valve Disease 1
Bronchitis Cardiac Arrest
Chronic Kidney Failure Chronic Myocardial Ischemia
Deficiency Anemia Familial Atrial Fibrillation
First-Degree Atrioventricular Block Generalized Atherosclerosis
Heart Disease Hypertension, Essential
Intermediate Coronary Syndrome Ischemic Heart Disease
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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 dyspnea 32 HP:0002094
3 syncope 32 HP:0001279
4 right bundle branch block 32 HP:0011712
5 complete heart block with broad qrs complexes 32 HP:0005170
6 left posterior fascicular block 32 HP:0005172
7 left anterior fascicular block 32 HP:0011711

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


chest pain, dyspnea, syncopal episode

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 GJA5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.6 GJA5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.6 SCN5A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.6 SCN5A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.6 GJA5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.6 SCN5A GJA5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.6 GJA5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.6 SCN5A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.6 SCN5A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.6 GJA5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 SCN5A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.6 GJA5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.6 SCN5A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.6 GJA5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 SCN5A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.6 SCN5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 SCN5A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.6 SCN5A

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 GJA5 PLAT SCN5A

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 216)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bisoprolol Approved Phase 4 66722-44-9 2405
2
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
3
Captopril Approved Phase 4 62571-86-2 44093
4
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
5
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
6
Enalaprilat Approved Phase 4 76420-72-9 6917719
7
Eplerenone Approved Phase 4 107724-20-9 150310 443872
8
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
9
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
10
Nebivolol Approved, Investigational Phase 4 152520-56-4, 99200-09-6, 118457-14-0 71301
11
Ramipril Approved Phase 4 87333-19-5 5362129
12
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
13
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
14
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-78-2 2244
15
Clopidogrel Approved Phase 4,Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
16
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
17
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
18
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
19
Chromium Approved Phase 4,Phase 3,Not Applicable 7440-47-3 27668
20
Everolimus Approved Phase 4,Phase 3,Not Applicable 159351-69-6 6442177
21
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 22916-47-8 4189
22
Sirolimus Approved, Investigational Phase 4,Phase 3,Not Applicable 53123-88-9 5284616 6436030 46835353
23
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
24
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
25
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
26
Iodine Approved, Investigational Phase 4 7553-56-2 807
27
Povidone Approved Phase 4 9003-39-8
28
Povidone-iodine Approved Phase 4 25655-41-8
29
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
30
Ticagrelor Approved Phase 4 274693-27-5 9871419
31
Amlodipine Approved Phase 4 88150-42-9 2162
32
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
33
Candesartan Experimental Phase 4 139481-59-7 2541
34 Adrenergic Agents Phase 4,Phase 2,Phase 3
35 Adrenergic Antagonists Phase 4
36 Adrenergic beta-Antagonists Phase 4
37 Angiotensin Receptor Antagonists Phase 4
38 Angiotensin-Converting Enzyme Inhibitors Phase 4
39 diuretics Phase 4
40 Diuretics, Potassium Sparing Phase 4,Phase 2
41 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
42 Hormone Antagonists Phase 4,Phase 2
43 Hormones Phase 4,Phase 3,Phase 2
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
45 Mineralocorticoid Receptor Antagonists Phase 4
46 Mineralocorticoids Phase 4
47 Natriuretic Agents Phase 4,Phase 3,Not Applicable
48 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
49
protease inhibitors Phase 4,Phase 3,Phase 2
50 Calcium, Dietary Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 118)
# 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 Implantable Cardioverter Defibrillator (ICD) Indication Unknown status NCT01415024 Phase 4
3 Systematic Withdrawal of Neurohumoral Blocker Therapy in Optimally Responding CRT Patients Unknown status NCT02200822 Phase 4 beta blockers;RAAS blockers
4 Effect of Cardiac Resynchronization Therapy (CRT) on Skeletal Muscle Histology, Neuroendocrine Activation and Inflammatory Response Completed NCT01019915 Phase 4
5 High-sensitivity Troponin in Cardiac Surgery Completed NCT01913873 Phase 4
6 A Study of Aripiprazole (Abilify) in Patients With Bipolar Mania Completed NCT00261443 Phase 4 Lithium or Valproate with placebo (PBO);Lithium or Valproate with Aripiprazole
7 A Phase IV Study of the Safety and Efficacy of Aripiprazole in Combination With Lamotrigine in the Long-Term Maintenance Treatment of Patients With Bipolar I Disorder With A Recent Manic or Mixed Episode Completed NCT00277212 Phase 4 Lamotrigine + Aripiprazole;Lamotrigine + Placebo
8 Comparison of Alcoholic Chlorhexidine 2% Versus Alcoholic Povidone Iodine for Infections Prevention With Cardiac Resynchronization Therapy Device Implantation Recruiting NCT01841242 Phase 4 alcoholic povidone iodine;alcoholic chlorhexidine
9 PROMUS Element Plus US Post-Approval Study Active, not recruiting NCT01589978 Phase 4 Aspirin;P2Y12 antagonist
10 Intervention for High-normal or Borderline-elevated Blood Pressure in Adults With Type 2 Diabetes Not yet recruiting NCT03264352 Phase 4 Allisartan Isoproxil;Amlodipine 5mg;Hydrochlorothiazide 25 mg;Allisartan Isoproxil placebo;Amlodipine placebo;Hydrochlorothiazide placebo
11 Cardiac Sarcoidosis Response To Steroids Trial Withdrawn NCT01210677 Phase 4 Prednisone
12 PCI With AXXESS Biolimus A9 Eluting Bifurcation Stent in Treating Coronary Artery Bifurcation Disease Withdrawn NCT02384629 Phase 4
13 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Unknown status NCT02644330 Phase 2, Phase 3
14 BENEFIT: Evaluation of the Use of Antiparasital Drug (Benznidazole) in the Treatment of Chronic Chagas' Disease Unknown status NCT00123916 Phase 3 Benznidazole;Placebo
15 Melatonin and Cardiac Outcome After Major Surgery Completed NCT00315926 Phase 2, Phase 3 Melatonin;Placebo
16 Levosimendan in Patients With Left Ventricular Systolic Dysfunction Undergoing Cardiac Surgery On Cardiopulmonary Bypass Completed NCT02025621 Phase 3 Levosimendan;Placebo
17 Effects of Titrated Oral Tolvaptan 15-60 mg Once Daily (QD) on Cognitive and Neurological Function in Elderly Hyponatremic Patients Completed NCT00550459 Phase 3 Tolvaptan;Placebo
18 The PLATINUM Clinical Trial to Assess the PROMUS Element Stent System for Treatment of De Novo Coronary Artery Lesions Completed NCT00823212 Phase 3 Aspirin;Thienopyridine
19 The PLATINUM Clinical Trial to Assess the PROMUS Element Stent System for Treatment of Long De Novo Coronary Artery Lesions (PLATINUM LL) Completed NCT01500434 Phase 3 Aspirin;Thienopyridine
20 Etiologic Treatment With Benznidazole in Adult Patients With Chronic Chagas Disease. A Randomized Clinical Trial Completed NCT02386358 Phase 3 Benznidazole;Placebo
21 Aripiprazole for Schizophrenia Outpatients Completing BMS Clinical Trials Completed NCT00239356 Phase 3 Aripiprazole
22 PROMUS Element Japan Small Vessel Trial Completed NCT01080261 Phase 3
23 A Prospective, Multi-center Trial to Assess an Everolimus-Eluting Coronary Stent System (PROMUS Element™) Completed NCT00824434 Phase 3
24 Study to Assess the Effect of Treatment With Bendamustine in Combination With Rituximab on QT Interval in Patients With Advanced Indolent Non-Hodgkin's Lymphoma (NHL) or Mantle Cell Lymphoma (MCL) Completed NCT01073163 Phase 3 Bendamustine;Rituximab
25 PLATINUM Trial to Assess the PROMUS Element Stent System for Treatment of De Novo Coronary Artery Lesions-Pharmacokinetics (PLATINUM PK) Completed NCT01510327 Phase 3 Aspirin;Thienopyridine
26 Long-term Safety Study for GSK573719 in Japanese Completed NCT01702363 Phase 3 GSK573719
27 Long-term Safety Study for GSK573719/GW642444 in Japanese Completed NCT01376388 Phase 3 GSK573719/GW642444 Inhalation Powder
28 Oral Aripiprazole Open-Label Rollover Study Completed NCT01001702 Phase 3 Aripiprazole
29 Prophylactic Topical Epinephrine to Reduce Bleeding in Transbronchial Lung Biopsies Recruiting NCT03126968 Phase 2, Phase 3 Topical epinephrine;Placebos
30 Triple-site Biventricular Stimulation in the Optimization of CRT Active, not recruiting NCT02350842 Phase 3
31 MADIT ASIA Cardiac Resynchronization Trial Terminated NCT01872234 Phase 3
32 Phase III Acute Coronary Syndrome Terminated NCT00831441 Phase 3 Apixaban;Placebo
33 Cardio‑Safety of Dihydroartemisinin‑Piperaquine and Pharmacokinetics of Piperaquine Amongst Pregnant Women in Tanzania Unknown status NCT02909712 Phase 2 sulfadoxine-pyrimethamine (SP);dihydroartemisinin-piperaquine (DHA-PQP)
34 Apixaban Versus Antiplatelet Drugs or no Antithrombotic Drugs After Anticoagulation-associated Intracerebral Haemorrhage in Patients With Atrial Fibrillation Unknown status NCT02565693 Phase 2 Apixaban;Aspirin;Carbasalate calcium;Clopidogrel;Dipyridamole
35 The Effects of Different Clonidine Concentrations on Axillary Brachial Plexus Block With 1,5% Lidocaine Completed NCT01620112 Phase 2 high Clonidine concentration;low clonidine concentration;Lidocaine;Lidocaine 40 ml
36 Washington Study of Hemofiltration After Out-of-Hospital Cardiac Arrest Completed NCT01509040 Phase 1, Phase 2
37 Antifibrotic Activity Of GI262570 In Chronic Hepatitis C Subjects Completed NCT00244751 Phase 2 GI262570 0.5 mg;GI262570 1.0 mg;Placebo
38 4 Week Switch Study in Hemodialysis-dependent Subjects With Anemia Associated With Chronic Kidney Disease Completed NCT01587924 Phase 2 GSK1278863;rhEPO
39 Study to Investigate the Effects of Orteronel on the QT/QTc Interval in Patients With Metastatic Castration-Resistant Prostate Cancer Completed NCT01549951 Phase 2 Orteronel+Prednisone
40 An Investigation Of The Interaction Of GSK961081 With Inhaled Beta-Agonist And Anti-Muscarinic Drugs. Completed NCT00674817 Phase 2 400 microgrammes GSK961081;1200 microgrammes GSK961081
41 A Long-Term, Placebo-Controlled X-Ray Study Investigating the Safety and Efficacy of SD-6010 in Subjects With Osteoarthritis of the Knee Completed NCT00565812 Phase 2 SD-6010;SD-6010;Placebo
42 Adenosine as an Adjunct to Blood Cardioplegia Recruiting NCT02681913 Phase 2 Adenosine
43 Trial to Evaluate the Effects of OPC-34712 on QT/QTc in Subjects With Schizophrenia or Schizoaffective Disorder Completed NCT01423916 Phase 1 OPC-34712 (4mg);Moxifloxacin;OPC-34712 (12mg);Placebo
44 Study to Assess the Effect of Macitentan on the Electrocardiogram (ECG) in Healthy Male and Female Subjects Completed NCT02050802 Phase 1 Moxifloxacin 400 mg;Macitentan 10 mg;Macitentan 30 mg
45 Congenital or Idiopathic Complete Right Bundle Branch Block: Physiological Significance and Molecular Characterization Unknown status NCT00173342
46 Management of Acute Myocardial Infarction in the Presence of Left Bundle Branch Block Unknown status NCT01494870 Not Applicable
47 HV Electrophysiology Study In Transcatheter Aortic Valve Implantation Patients Unknown status NCT02659137
48 Selective Coronary Vein Sampling in Left Bundle Branch Block and CRT Unknown status NCT02396875 Not Applicable
49 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241 Not Applicable
50 Effect of Bi-ventricular Pacing on Autonomous Nervous System Unknown status NCT00190138 Not Applicable

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 Bundle Branch Block 29

Anatomical Context for Progressive Familial Heart Block, Type Ia

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

41
Heart, Testes, Kidney, Lung, Liver, Bone, Prostate

Publications for Progressive Familial Heart Block, Type Ia

Articles related to Progressive Familial Heart Block, Type Ia:

(show top 50) (show all 757)
# 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
R-Wave Peak Time at Lead II in Adults With Ventricular Premature Beats, Bundle Branch Block and Left Anterior Fascicular Block. ( 29289261 )
2018
9
An interesting case of wide QRS tachycardia with right bundle branch block morphology: What is the mechanism? ( 29781518 )
2018
10
Right bundle branch block and conduction disturbances in Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. ( 29804172 )
2018
11
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction. ( 29349559 )
2018
12
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
13
The relevance of looking for right bundle branch block in catheter ablation of Ebstein's anomaly. ( 28666538 )
2017
14
Association between right ventricular systolic function and electromechanical delay in patients with right bundle branch block. ( 28238566 )
2017
15
Right bundle branch block and anterior wall ST elevation myocardial infarction. ( 28840315 )
2017
16
Managing chest pain in patients with concomitant left bundle-branch block. ( 28990972 )
2017
17
Wenckebach pattern in right bundle branch block - benign or not? ( 28340894 )
2017
18
Differentiating the QRS Morphology of Posterior Fascicular Ventricular Tachycardia From Right Bundle Branch Block and Left Anterior Hemiblock Aberrancy. ( 28899954 )
2017
19
Systemic inflammatory response syndrome (SIRS) and a left bundle branch block (LBBB) due to nitrofurantoin. ( 28536210 )
2017
20
Resolution of the functional retrograde right bundle branch block during antidromic atrioventricular reciprocating tachycardia. ( 29387543 )
2017
21
Recurrent extensive anterior myocardial infarction with left and right bundle branch block. ( 29034539 )
2017
22
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
23
Left bundle branch block: from cardiac mechanics to clinical and diagnostic challenges. ( 28444180 )
2017
24
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
25
AV nodal reentrant tachycardia with a 2:1 right bundle branch block missed as bidirectional ventricular tachycardia in the first superficial evaluation. ( 28125405 )
2017
26
Patients with right bundle branch block and concomitant delayed left ventricular activation respond to cardiac resynchronization therapy. ( 29294014 )
2017
27
Think beyond right bundle branch block in atrial septal defect. ( 28994692 )
2017
28
[Changes in electrocardiographic parameters in children with complete left bundle branch block early after transcatheter closure of ventricular septal defect]. ( 28606233 )
2017
29
Clinical Impact of Baseline Right Bundle Branch Block in Patients Undergoing Transcatheter Aortic Valve Replacement. ( 28734885 )
2017
30
Rate-related bundle branch block following anteroseptal myocardial infarction. ( 28965611 )
2017
31
Pre-Transcatheter Aortic Valve Replacement Right Bundle Branch Block: A Bundle of Trouble. ( 28734886 )
2017
32
Masquerading bundle branch block as a presenting manifestation of complete atrioventricular block that caused syncope. ( 28627977 )
2017
33
Aortic annulus to left coronary distance as a predictor for persistent left bundle branch block after TAVI. ( 27038099 )
2017
34
Transcatheter Heart Valve Selection and Permanent Pacemaker Implantation in Patients With Pre-Existent Right Bundle Branch Block. ( 28258051 )
2017
35
The electromechanical substrate for response to cardiac resynchronization therapy in patients with right bundle branch block. ( 29086988 )
2017
36
[Noninvasive Electrophysiological Mapping in Patients With Complete Left Bundle Branch Block and Different Modes of Biventricular Pacing]. ( 28762918 )
2017
37
Masquerading bundle branch block obscuring the diagnosis of Brugada syndrome: an electrocardiographic and vectorcardiographic study. ( 28781860 )
2017
38
Complete right bundle branch block and QRS-T discordance can be the initial clue to detect S-ICD ineligibility. ( 28034575 )
2016
39
Reversible left bundle branch block should be mentioned in cardiac resynchronization therapy; A clinical case report. ( 27752273 )
2016
40
Right ventricular failure predicted from right bundle branch block: cardiac magnetic resonance imaging validation. ( 27747166 )
2016
41
Rare Manifestation of Digoxin Toxicity: Right Bundle Branch Block. ( 28104974 )
2016
42
[Left Bundle Branch Block in Unstable Angina. Mortality and Rate of Myocardial Infarction]. ( 28290858 )
2016
43
[Supernormal and alternating conduction in intermittent bundle branch block and intermittent or concealed ventricular preexcitation. Electrophysiological study, mechanisms and clinical considerations]. ( 27310911 )
2016
44
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
45
New-Onset Left Bundle Branch Block Induced by Transcutaneous Aortic Valve Implantation. ( 26742470 )
2016
46
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
47
Transient complete right bundle branch block following right heart catheterization in children - a report of two cases. ( 27980554 )
2016
48
Left Bundle Branch Block and Complete Heart Block Complicating Inferior Myocardial Infarction. ( 27411891 )
2016
49
ECG Case of the Month: IRREGULARLY IRREGULAR CARDIAC RHYTHM IN AN 87-YEAR-OLD WOMAN. MULTIFOCAL ATRIAL TACHYCARDIA; RIGHT BUNDLE BRANCH BLOCK. ( 26986865 )
2016
50
Prognostic Significance of Right Bundle Branch Block for Patients with Acute Myocardial Infarction: A Systematic Review and Meta-Analysis. ( 27017617 )
2016

Variations for Progressive Familial Heart Block, Type Ia

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.3963+2T> C single nucleotide variant Pathogenic rs397514447 GRCh37 Chromosome 3, 38603904: 38603904
2 SCN5A NM_198056.2(SCN5A): c.3963+2T> C single nucleotide variant Pathogenic rs397514447 GRCh38 Chromosome 3, 38562413: 38562413
3 SCN5A NM_000335.4(SCN5A): c.5128delG (p.Ala1710Profs) deletion Pathogenic rs397514448 GRCh37 Chromosome 3, 38592732: 38592732
4 SCN5A NM_000335.4(SCN5A): c.5128delG (p.Ala1710Profs) deletion Pathogenic rs397514448 GRCh38 Chromosome 3, 38551241: 38551241
5 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
6 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh38 Chromosome 3, 38554309: 38554309

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 10.7 GJA5 SCN5A
2 9.88 GJA5 PLAT

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 intercalated disc GO:0014704 8.62 GJA5 SCN5A

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

# Name GO ID Score Top Affiliating Genes
1 cardiac conduction GO:0061337 9.43 GJA5 SCN5A
2 regulation of heart rate by cardiac conduction GO:0086091 9.4 GJA5 SCN5A
3 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.37 GJA5 SCN5A
4 ventricular cardiac muscle cell action potential GO:0086005 9.32 GJA5 SCN5A
5 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.26 GJA5 SCN5A
6 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.16 GJA5 SCN5A
7 SA node cell action potential GO:0086015 8.96 GJA5 SCN5A
8 AV node cell to bundle of His cell communication GO:0086067 8.62 GJA5 SCN5A

Sources for Progressive Familial Heart Block, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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