SCN5A gene related symptoms and diseases

All the information presented here about the SCN5A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to SCN5A gene

Symptoms // Phenotype	% Cases
Syncope	Very Common - Between 80% and 100% cases
Arrhythmia	Common - Between 50% and 80% cases
Sudden cardiac death	Common - Between 50% and 80% cases
Atrioventricular block	Common - Between 50% and 80% cases
Prolonged QT interval	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SCN5A gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Palpitations
Tachycardia
Ventricular arrhythmia
Atrial flutter
Ventricular fibrillation
Right bundle branch block
Bradycardia
Atrial arrhythmia

And 117 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SCN5A gene

Here you will find a list of rare diseases related to the SCN5A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Alternate names

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT Is also known as familial lev disease, familial lenÈgre disease, familial lev-lenÈgre disease, pfhbib, hereditary bundle branch defect, familial pccd, familial progressive heart block

Description

Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

Most common symptoms of FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Arrhythmia
Abnormal heart morphology
Abdominal pain
Dyspnea
Vertigo

More info about FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

SOURCES: OMIM ORPHANET

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

Alternate names

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A Is also known as bundle branch block, hbbd, pccd, pfhbia, heart block, progressive familial, type i, pfhbi, lenegre-lev disease, cardiac conduction defect, progressive, hereditary bundle branch system defect

Description

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). Genetic Heterogeneity of Progressive Familial Heart Block Type IProgressive familial heart block type IB (PFHB1B ) is caused by mutation in the TRPM4 gene (OMIM ) on chromosome 19q13.32.

Most common symptoms of PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

Seizures
Arrhythmia
Dyspnea
Sudden cardiac death
Syncope

More info about PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

SOURCES: OMIM

SUDDEN INFANT DEATH SYNDROME

Alternate names

SUDDEN INFANT DEATH SYNDROME Is also known as sids

Description

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004).Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways.

Most common symptoms of SUDDEN INFANT DEATH SYNDROME

Fever
Respiratory distress
Abnormal heart morphology
Pneumonia
Acidosis

More info about SUDDEN INFANT DEATH SYNDROME

SOURCES: OMIM MESH

BRUGADA SYNDROME

Alternate names

BRUGADA SYNDROME Is also known as dream disease, idiopathic ventricular fibrillation, brugada type, sudden unexplained nocturnal death syndrome, bangungut, pokkuri death syndrome, sunds

Description

Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.

Most common symptoms of BRUGADA SYNDROME

Seizures
Pain
Arrhythmia
Vertigo
Tachycardia

More info about BRUGADA SYNDROME

SOURCES: ORPHANET OMIM

BRUGADA SYNDROME 1; BRGDA1

Alternate names

BRUGADA SYNDROME 1; BRGDA1 Is also known as right bundle branch block, st segment elevation, and sudden death syndrome, sudden unexplained nocturnal death syndrome, sunds

Description

Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). Genetic Heterogeneity of Brugada SyndromeBrugada syndrome-2 (OMIM ) is caused by mutation in the GPD1L gene (OMIM ) on chromosome 3p22. Brugada syndrome-3 (OMIM ) and Brugada syndrome-4 (OMIM ), the phenotypes of which include a shortened QT interval on ECG, are caused by mutation in the CACNA1C gene (OMIM ) on chromosome 12p13 and CACNB2 gene (OMIM ) on chromosome 10p12, respectively. Brugada syndrome-5 (OMIM ) is caused by mutation in the SCN1B gene (OMIM ) on chromosome 19q13. Brugada syndrome-6 (OMIM ) is caused by mutation in the KCNE3 gene (OMIM ) on chromosome 11q13. Brugada syndrome-7 (OMIM ) is caused by mutation in the SCN3B gene (OMIM ) on chromosome 11q24. Brugada syndrome-8 (OMIM ) is caused by mutation in the HCN4 gene (OMIM ) on chromosome 15q24. Brugada syndrome-9 (OMIM ) is caused by mutation in the KCND3 gene (OMIM ) on chromosome 1p13.Antzelevitch et al. (2007) screened 82 consecutive probands with a clinical diagnosis of Brugada syndrome for mutations in 16 ion channel genes. Seven probands were found to have mutations in the CACNA1C (OMIM ) or CACNB2 (OMIM ) genes, including 3 Brugada probands with shortened QTc intervals (see {611875} and {611876}). Fifteen percent of probands harbored a pathogenic mutation in the SCN5A gene.Delpon et al. (2008) screened 14 ion channel genes in 105 probands with Brugada syndrome and detected SCN5A mutations in 14.3%, CACNA1C mutations in 6.7%, and CACNB2 mutations in 4.8% of the probands.Hu et al. (2009) analyzed 9 'Brugada susceptibility' genes, including SCN5A, GPD1L (OMIM ), CACNB2, CACNA1C, SCN1B (OMIM ), KCNE2 (OMIM ), KCNE3 (OMIM ), KCNE4 (OMIM ), and IRX5 (OMIM ), as well as the sodium channel beta subunit SCN3B (OMIM ), in 179 probands with Brugada syndrome; they noted that 129 (72.07%) of the probands were negative for mutation in all of the genes tested.Crotti et al. (2012) analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome and identified SCN5A mutations in 21 (16.3%) of the patients; only 6 (4.6%) of the patients carried a mutation in 1 of the other 11 genes.In a cohort of 91 SCN5A-negative Brugada syndrome patients and 91 European controls from the 1000 Genomes Project database, Di Resta et al. (2015) analyzed 158 arrhythmia- and cardiac defect-associated genes. A significant enrichment in Brugada syndrome samples was found only for the DSG2 gene (OMIM ), with 6 (6%) of 91 patients having a rare functional variant compared to none of the 91 controls (p = 0.029). In addition, borderline significance was detected for the MYH7 gene (OMIM ) (5 patients versus 0 controls; p = 0.059). Analysis of phenotype correlations yielded statistical significance only between the presence of a DSG2 variant and syncope, documented ventricular tachycardia/fibrillation, and/or cardiac arrest (p = 0.034). Di Resta et al. (2015) noted the possible genetic overlap between different cardiac disorders, suggesting common pathogenetic pathways.

Most common symptoms of BRUGADA SYNDROME 1; BRGDA1

Fever
Respiratory distress
Arrhythmia
Abnormal heart morphology
Tachycardia

More info about BRUGADA SYNDROME 1; BRGDA1

SOURCES: OMIM

CARDIOMYOPATHY, DILATED, 1E; CMD1E

Alternate names

CARDIOMYOPATHY, DILATED, 1E; CMD1E Is also known as cdcd2, cardiomyopathy, dilated, with conduction defect 2, cardiomyopathy, dilated, with conduction disorder and arrhythmia

Most common symptoms of CARDIOMYOPATHY, DILATED, 1E; CMD1E

Cardiomyopathy
Congestive heart failure
Arrhythmia
Dyspnea
Stroke

More info about CARDIOMYOPATHY, DILATED, 1E; CMD1E

SOURCES: MESH OMIM

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Alternate names

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc

Description

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Sensorineural hearing impairment
Feeding difficulties
Fatigue
Ventriculomegaly
Cardiomyopathy

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

SOURCES: OMIM ORPHANET

ROMANO-WARD SYNDROME

Alternate names

ROMANO-WARD SYNDROME Is also known as romano-ward long qt syndrome

Description

Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).

Most common symptoms of ROMANO-WARD SYNDROME

Seizures
Arrhythmia
Sudden cardiac death
Syncope
Bradycardia

More info about ROMANO-WARD SYNDROME

SOURCES: ORPHANET OMIM

LONG QT SYNDROME 3; LQT3

Description

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (OMIM ).

Most common symptoms of LONG QT SYNDROME 3; LQT3

Seizures
Arrhythmia
Sudden cardiac death
Syncope
Cardiac arrest

More info about LONG QT SYNDROME 3; LQT3

SOURCES: OMIM

IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE

Alternate names

IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE Is also known as vf, familial paroxysmal ventricular fibrillation, non brugada type, ivf

Description

Ventricular fibrillation (VF) is said to cause more than 300,000 sudden deaths each year in the US alone. In approximately 5 to 12% of cases, there are no demonstrable cardiac or noncardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF). Patients with a distinct form of VF called Brugada syndrome (see {601144}) present with a characteristic electrocardiographic pattern, with right bundle branch block (RBBB) and elevation of ST segment in leads V1 to V3 and may account for 40 to 60% of all IVF cases (review by Chen et al., 1998). Mutations in the SCN5A gene were identified in patients with Brugada syndrome-1 (OMIM ). Genetic Heterogeneity of Paroxysmal Familial Ventricular FibrillationAnother familial form of VF (VF2 ) is caused by mutation in the DPP6 gene (OMIM ) on chromosome 7q26.

Most common symptoms of IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE

Arrhythmia
Tachycardia
Sudden cardiac death
Syncope
Ventricular fibrillation

More info about IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE

SOURCES: ORPHANET OMIM

FAMILIAL ATRIAL FIBRILLATION

Alternate names

FAMILIAL ATRIAL FIBRILLATION Is also known as atrial fibrillation, autosomal dominant

Description

Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.

Most common symptoms of FAMILIAL ATRIAL FIBRILLATION

Pain
Respiratory distress
Arrhythmia
Stroke
Dilated cardiomyopathy

More info about FAMILIAL ATRIAL FIBRILLATION

SOURCES: OMIM MESH ORPHANET

ATRIAL STANDSTILL

Alternate names

ATRIAL STANDSTILL Is also known as cardiomyopathy, familial, with conduction disturbance, atrial cardiomyopathy with heart block

Description

Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.

Most common symptoms of ATRIAL STANDSTILL

Congestive heart failure
Dyspnea
Sudden cardiac death
Syncope
Atrial fibrillation

More info about ATRIAL STANDSTILL

SOURCES: ORPHANET OMIM

ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10

Description

Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Most common symptoms of ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10

Arrhythmia
Stroke
Tachycardia
Syncope
Atrial fibrillation

More info about ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10

SOURCES: OMIM

FAMILIAL SICK SINUS SYNDROME

Alternate names

FAMILIAL SICK SINUS SYNDROME Is also known as sinus node disease, familial, autosomal recessive, sinus bradycardia syndrome, familial, sick sinus syndrome, congenital, familial sinus node dysfunction, sinus rhythm, congenital absence of

Description

Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.

Most common symptoms of FAMILIAL SICK SINUS SYNDROME

Tremor
Fatigue
Headache
Vertigo
Tachycardia

More info about FAMILIAL SICK SINUS SYNDROME

SOURCES: ORPHANET OMIM

Search interest in SCN5A

Potential gene panels for SCN5A gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

SCN5A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SCN5A gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to SCN5A gene

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Alternate names

Description

Most common symptoms of FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

Alternate names

Description

Most common symptoms of PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A

SUDDEN INFANT DEATH SYNDROME

Alternate names

Description

Most common symptoms of SUDDEN INFANT DEATH SYNDROME

BRUGADA SYNDROME

Alternate names

Description

Most common symptoms of BRUGADA SYNDROME

BRUGADA SYNDROME 1; BRGDA1

Alternate names

Description

Most common symptoms of BRUGADA SYNDROME 1; BRGDA1

CARDIOMYOPATHY, DILATED, 1E; CMD1E

Alternate names

Most common symptoms of CARDIOMYOPATHY, DILATED, 1E; CMD1E

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Alternate names

Description

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

ROMANO-WARD SYNDROME

Alternate names

Description

Most common symptoms of ROMANO-WARD SYNDROME

LONG QT SYNDROME 3; LQT3

Description

Most common symptoms of LONG QT SYNDROME 3; LQT3

IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE

Alternate names

Description

Most common symptoms of IDIOPATHIC VENTRICULAR FIBRILLATION, NON BRUGADA TYPE

FAMILIAL ATRIAL FIBRILLATION

Alternate names

Description

Most common symptoms of FAMILIAL ATRIAL FIBRILLATION

ATRIAL STANDSTILL

Alternate names

Description

Most common symptoms of ATRIAL STANDSTILL

ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10

Description

Most common symptoms of ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10

FAMILIAL SICK SINUS SYNDROME

Alternate names

Description

Most common symptoms of FAMILIAL SICK SINUS SYNDROME

Search interest in SCN5A

Potential gene panels for SCN5A gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

NGS Epilepsy/Seizure Panel Panel

Brugada Syndrome Panel Panel

Comprehensive Cardiac Panel Panel

Dilated & Arrhythmogenic Cardiomyopathies Panel Panel

Long QT Syndrome Panel Panel

Cardiomyopathy Panel Panel

Dilated Cardiomyopathy Panel Panel

Brugada Syndrome Panel

Comprehensive Arrhythmias Panel Panel

Long QT Syndrome and Short QT Syndrome Panel

Atrioventricular Block Panel Panel

Long QT Syndrome Panel Panel

Dilated Cardiomyopathy Panel (30 genes) Panel

Comprehensive Cardiomyopathy Panel (37 genes) Panel

DCM and DMD related Cardiomyopathy Panel

Atrial Fibrillation Panel Panel

Brugada Syndrome Panel Panel

Cardiac Channelopathy Panel Panel