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Atrial fibrillation

MedGen UID:
445
Concept ID:
C0004238
Disease or Syndrome; Finding
Synonyms: Atrial Fibrillation; Atrial Fibrillations; Auricular Fibrillation; Auricular Fibrillations; Fibrillation, Atrial; Fibrillation, Auricular; Fibrillations, Atrial; Fibrillations, Auricular
SNOMED CT: AF - Atrial fibrillation (49436004); Atrial fibrillation (49436004)
 
Related genes: ABCC9, KCNE2, KCNQ1, KCNJ2, KCNA5, GJA5
 
HPO: HP:0005110

Definition

A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) [from NCI]

Conditions with this feature

Ebstein anomaly of the tricuspid valve
MedGen UID:
4435
Concept ID:
C0013481
Congenital Abnormality
Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011).
McLeod neuroacanthocytosis syndrome
MedGen UID:
140765
Concept ID:
C0398568
Disease or Syndrome
McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS manifestations are a neurodegenerative basal ganglia disease including movement disorders, cognitive alterations, and psychiatric symptoms. Neuromuscular manifestations include a (mostly subclinical) sensorimotor axonopathy and muscle weakness or atrophy of different degrees. Cardiac manifestations include dilated cardiomyopathy, atrial fibrillation, and tachyarrhythmia. Hematologically, MLS is defined as a specific blood group phenotype (named after the first proband, Hugh McLeod) that results from absent expression of the Kx erythrocyte antigen and weakened expression of Kell blood group antigens. The hematologic manifestations are red blood cell acanthocytosis and compensated hemolysis. Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. Females heterozygous for XK pathogenic variants have mosaicism for the Kell and Kx blood group antigens. Although they usually lack CNS and neuromuscular manifestations, some heterozygous females may develop clinical manifestations including chorea or late-onset cognitive decline.
Familial cutaneous collagenoma
MedGen UID:
96073
Concept ID:
C0406817
Neoplastic Process
Dilated cardiomyopathy 1A
MedGen UID:
258500
Concept ID:
C1449563
Disease or Syndrome
LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias. LMNA-related DCM usually presents in early to mid-adulthood with symptomatic conduction system disease or arrhythmias, or with symptomatic DCM including heart failure or embolus from a left ventricular mural thrombus. Sudden cardiac death can occur, and in some instances is the presenting manifestation; sudden cardiac death may occur with minimal or no systolic dysfunction.
Left ventricular noncompaction 6
MedGen UID:
316943
Concept ID:
C1832243
Disease or Syndrome
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.\n\nSome individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.
Dilated cardiomyopathy 1E
MedGen UID:
331341
Concept ID:
C1832680
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.
Long QT syndrome 4
MedGen UID:
331449
Concept ID:
C1833154
Disease or Syndrome
Familial hypertrophic cardiomyopathy 6
MedGen UID:
331466
Concept ID:
C1833236
Disease or Syndrome
Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005).
Sick sinus syndrome 2, autosomal dominant
MedGen UID:
320273
Concept ID:
C1834144
Disease or Syndrome
Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. "Sick sinus" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally. In some cases, it does not produce the right signals to trigger a regular heartbeat. In others, abnormalities disrupt the electrical impulses and prevent them from reaching the rest of the heart.\n\nSick sinus syndrome tends to cause the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia). In some cases, the heartbeat rapidly switches from being too fast to being too slow, a condition known as tachycardia-bradycardia syndrome. Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). Once symptoms of sick sinus syndrome appear, they usually worsen with time. However, some people with the condition never experience any related health problems.\n\nSick sinus syndrome occurs most commonly in older adults, although it can be diagnosed in people of any age. The condition increases the risk of several life-threatening problems involving the heart and blood vessels. These include a heart rhythm abnormality called atrial fibrillation, heart failure, cardiac arrest, and stroke.
Atrial fibrillation, familial, 3
MedGen UID:
373232
Concept ID:
C1837014
Disease or Syndrome
Atrial fibrillation (AF) 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.
Atrial fibrillation, familial, 1
MedGen UID:
334469
Concept ID:
C1843687
Disease or Syndrome
Atrial fibrillation (AF) 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). Genetic Heterogeneity of Familial Atrial Fibrillation ATFB1 shows linkage to chromosome 10q22-q24. ATFB2 (608988) maps to chromosome 6q. ATFB3 (607554) is caused by mutation in the KCNQ1 gene (607542) on chromosome 11. ATFB4 (611493) is caused by mutation in the KCNE2 gene (603796) on chromosome 21. Variants in a region of chromosome 4q25 are associated with ATFB5 (611494). ATFB6 (612201) is caused by mutation in the NPPA gene (108780) on chromosome 1p36. ATFB7 (612240) is caused by mutation in the KCNA5 gene (176267) on chromosome 12p13. ATFB8 (613055) maps to chromosome 16q22. ATFB9 (613980) is caused by mutation in the KCNJ2 gene (600681) on chromosome 17q24.3. ATFB10 (614022) is caused by mutation in the SCN5A gene (600163) on chromosome 3p21. ATFB11 (614049) is caused by mutation in the GJA5 (121013) gene on chromosome 1q21.1. ATFB12 (614050) is caused by mutation in the ABCC9 gene (601439) on chromosome 12p12.1. ATFB13 (615377) is caused by mutation in the SCN1B gene (600235) on chromosome 19q13. ATFB14 (615378) is caused by mutation in the SCN2B gene (601327) on chromosome 11q23. ATFB15 (615770) is caused by mutation in the NUP155 gene (606694) on chromosome 5p13. ATFB16 (see 613120) is caused by mutation in the SCN3B gene (608214) on chromosome 11q24. ATFB17 (see 611819) is caused by mutation in the SCN4B gene (608256) on chromosome 11q23. ATFB18 (617280) is caused by mutation in the MYL4 gene (160770) on chromosome 17q21. Olesen et al. (2014) analyzed 192 Danish Caucasian patients with onset of lone atrial fibrillation before the age of 40 years for the presence of rare variants in 14 AF-associated genes and found that 29 (7.6%) alleles harbored a very rare variant (minor allele frequency less than 1%), a significantly higher percentage than that found in 6,503 individuals in the NHLBI Exome Variant Server database (4.1%; p = 0.0012). Twenty-four of the 29 rare variants found in the lone AF patient cohort had previously been studied, with 23 (96%) showing abnormal ion channel function by patch-clamp analysis. Olesen et al. (2014) suggested that rare variants in AF susceptibility genes may play a role in the pathophysiology of AF.
Left ventricular noncompaction 1
MedGen UID:
349005
Concept ID:
C1858725
Disease or Syndrome
Left ventricular noncompaction (LVNC) is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle (Sasse-Klaassen et al., 2004). The mechanistic basis is thought to be an intrauterine arrest of myocardial development with lack of compaction of the loose myocardial meshwork. LVNC may occur in isolation or in association with congenital heart disease. Distinctive morphologic features can be recognized on 2-dimensional echocardiography (Kurosaki et al., 1999). Noncompaction of the ventricular myocardium is sometimes referred to as spongy myocardium. Stollberger et al. (2002) commented that the term 'isolated LVNC,' meaning LVNC without coexisting cardiac abnormalities, is misleading, because additional cardiac abnormalities are found in nearly all patients with LVNC. Genetic Heterogeneity of Left Ventricular Noncompaction A locus for autosomal dominant left ventricular noncompaction has been identified on chromosome 11p15 (LVNC2; 609470). LVNC3 (see 605906) is caused by mutation in the LDB3 gene (605906) on chromosome 10q23. LVNC4 (see 613424) is caused by mutation in the ACTC1 gene (102540) on chromosome 15q14. LVNC5 (see 613426) is caused by mutation in the MYH7 gene (160760) on chromosome 14q12. LVNC6 (see 601494) is caused by mutation in the TNNT2 gene (191045) on chromosome 1q32. LVNC7 (615092) is caused by mutation in the MIB1 gene (608677) on chromosome 18q11. LVNC8 (615373) is caused by mutation in the PRDM16 gene (605557) on chromosome 1p36. LVNC9 (see 611878) is caused by mutation in the TPM1 gene (191010) on chromosome 15q22. LVNC10 (615396) is caused by mutation in the MYBPC3 gene (600958) on chromosome 11p11. LVNC can also occur as part of an X-linked disorder, Barth syndrome (302060), caused by mutation in the TAZ gene (300394) on chromosome Xq28.
Dilated cardiomyopathy 1G
MedGen UID:
347714
Concept ID:
C1858763
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.
Familial hypertrophic cardiomyopathy 7
MedGen UID:
348695
Concept ID:
C1860752
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.
Atrial fibrillation, familial, 4
MedGen UID:
400041
Concept ID:
C1862394
Disease or Syndrome
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.
Short QT syndrome 2
MedGen UID:
355890
Concept ID:
C1865019
Disease or Syndrome
Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620).
Atrial fibrillation, familial, 5
MedGen UID:
369411
Concept ID:
C1969099
Disease or Syndrome
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.
Cardiac arrhythmia, ankyrin B-related
MedGen UID:
370181
Concept ID:
C1970119
Disease or Syndrome
Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.
Atrial fibrillation, familial, 6
MedGen UID:
394252
Concept ID:
C2677294
Disease or Syndrome
Atrial fibrillation (AF) 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.
Dilated cardiomyopathy 1AA
MedGen UID:
393713
Concept ID:
C2677338
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.
Brugada syndrome 4
MedGen UID:
395632
Concept ID:
C2678477
Disease or Syndrome
Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.
Brugada syndrome 3
MedGen UID:
395633
Concept ID:
C2678478
Disease or Syndrome
Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.
Long QT syndrome 10
MedGen UID:
394836
Concept ID:
C2678484
Disease or Syndrome
Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.
Lipodystrophy, congenital generalized, type 4
MedGen UID:
412871
Concept ID:
C2750069
Disease or Syndrome
Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (608594) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).
Familial hypertrophic cardiomyopathy 13
MedGen UID:
442487
Concept ID:
C2750472
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.
Atrial septal defect 6
MedGen UID:
414348
Concept ID:
C2751315
Disease or Syndrome
Long QT syndrome 13
MedGen UID:
462083
Concept ID:
C3150733
Disease or Syndrome
Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.
Loeys-Dietz syndrome 3
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Familial hypertrophic cardiomyopathy 16
MedGen UID:
462554
Concept ID:
C3151204
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.
Familial hypertrophic cardiomyopathy 18
MedGen UID:
462615
Concept ID:
C3151265
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.
Familial hypertrophic cardiomyopathy 20
MedGen UID:
462617
Concept ID:
C3151267
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
Steinert myotonic dystrophy syndrome
MedGen UID:
886881
Concept ID:
C3250443
Disease or Syndrome
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.
Atrial septal defect 7 with or without atrioventricular conduction defects
MedGen UID:
477726
Concept ID:
C3276096
Disease or Syndrome
An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
Atrial fibrillation, familial, 11
MedGen UID:
481323
Concept ID:
C3279693
Disease or Syndrome
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 familial atrial fibrillation, see ATFB1 (608583).
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
MedGen UID:
765974
Concept ID:
C3553060
Disease or Syndrome
Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011). For a discussion of genetic heterogeneity of EDMD, see 310300.
Cardiomyopathy, dilated, 2b
MedGen UID:
766323
Concept ID:
C3553409
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.
Congenital heart defects, multiple types, 3
MedGen UID:
767108
Concept ID:
C3554194
Disease or Syndrome
Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm (van de Meerakker et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Congenital heart defects, multiple types, 2
MedGen UID:
767193
Concept ID:
C3554279
Disease or Syndrome
Multiple types of congenital heart defects-2 (CHTD2) is characterized by variable congenital heart defects, primarily involving the valves, but also including septal defects or aneurysms, and complex defects such as tetralogy of Fallot. Dilated cardiomyopathy and myocardial noncompaction have been reported in some patients. In addition, some affected individuals exhibit facial dysmorphism and features of connective tissue disease (Thienpont et al., 2010; Ackerman et al., 2016; Ritelli et al., 2018). For a discussion of genetic heterogeneity of CHTD, see 306955.
Dilated cardiomyopathy 1KK
MedGen UID:
811544
Concept ID:
C3714995
Disease or Syndrome
Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.
Atrial fibrillation, familial, 15
MedGen UID:
862706
Concept ID:
C4014269
Disease or Syndrome
Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
Cardiac conduction disease with or without dilated cardiomyopathy
MedGen UID:
863722
Concept ID:
C4015285
Disease or Syndrome
Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted
Aortic aneurysm, familial thoracic 9
MedGen UID:
863805
Concept ID:
C4015368
Disease or Syndrome
Chronic atrial and intestinal dysrhythmia
MedGen UID:
863911
Concept ID:
C4015474
Disease or Syndrome
Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines.
Catecholaminergic polymorphic ventricular tachycardia type 1
MedGen UID:
885877
Concept ID:
C4053736
Disease or Syndrome
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion in individuals without structural cardiac abnormalities. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean age of onset of symptoms (usually a syncopal episode) is between age seven and twelve years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. Sudden death may be the first manifestation of the disease.
Cardiomyopathy, familial hypertrophic, 26
MedGen UID:
934716
Concept ID:
C4310749
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.
Brugada syndrome 1
MedGen UID:
1646402
Concept ID:
C4551804
Disease or Syndrome
Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.
Congenital heart defects, multiple types, 5
MedGen UID:
1636547
Concept ID:
C4693563
Disease or Syndrome

Professional guidelines

PubMed

Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS).; European Heart Rhythm Association (EHRA).
Europace 2011 Aug;13(8):1077-109. doi: 10.1093/europace/eur245. PMID: 21810866

Recent clinical studies

Etiology

Haeusler KG, Kirchhof P, Kunze C, Tütüncü S, Fiessler C, Malsch C, Olma MC, Jawad-Ul-Qamar M, Krämer M, Wachter R, Michalski D, Kraft A, Rizos T, Gröschel K, Thomalla G, Nabavi DG, Röther J, Laufs U, Veltkamp R, Heuschmann PU, Endres M; MonDAFIS Investigators.
Lancet Neurol 2021 Jun;20(6):426-436. doi: 10.1016/S1474-4422(21)00067-3. PMID: 34022169
Gibbs H, Freedman B, Rosenqvist M, Virdone S, Mahmeed WA, Ambrosio G, Camm AJ, Jacobson B, Jerjes-Sanchez C, Kayani G, Oto A, Panchenko E, Ragy H, Kakkar AK; GARFIELD-AF Investigators.
Am J Med 2021 Jul;134(7):893-901.e11. Epub 2021 Feb 16 doi: 10.1016/j.amjmed.2021.01.017. PMID: 33607088
Melis F, Guido M, Amellone C, Suppo M, Bonanno M, Bovio C, Pessia A, Savio K, Lucciola MT, Ebrille E, Guastamacchia G, Cassano D, Filippi P, Milano E, Giammaria M, Imperiale D
Neurol Sci 2021 Sep;42(9):3707-3714. Epub 2021 Jan 14 doi: 10.1007/s10072-020-04963-9. PMID: 33443664
Proietti M, Lip GYH, Laroche C, Fauchier L, Marin F, Nabauer M, Potpara T, Dan GA, Kalarus Z, Tavazzi L, Maggioni AP, Boriani G; ESC-EORP Atrial Fibrillation General Long-Term Registry Investigators Group.
Europace 2021 Feb 5;23(2):174-183. doi: 10.1093/europace/euaa274. PMID: 33006613
McCarthy PM, Szlapka M, Kruse J, Kislitsina ON, Thomas JD, Liu M, Andrei AC, Cox JL
J Thorac Cardiovasc Surg 2021 Jun;161(6):2030-2040.e3. Epub 2019 Dec 12 doi: 10.1016/j.jtcvs.2019.11.098. PMID: 31952828

Diagnosis

Haeusler KG, Kirchhof P, Kunze C, Tütüncü S, Fiessler C, Malsch C, Olma MC, Jawad-Ul-Qamar M, Krämer M, Wachter R, Michalski D, Kraft A, Rizos T, Gröschel K, Thomalla G, Nabavi DG, Röther J, Laufs U, Veltkamp R, Heuschmann PU, Endres M; MonDAFIS Investigators.
Lancet Neurol 2021 Jun;20(6):426-436. doi: 10.1016/S1474-4422(21)00067-3. PMID: 34022169
Rusnak J, Behnes M, Reiser L, Schupp T, Bollow A, Reichelt T, Borggrefe M, Ellguth D, Engelke N, El-Battrawy I, Ansari U, Barre M, Weidner K, Müller J, Barth C, Meininghaus DG, Akin M, Bertsch T, Taton G, Akin I
Arch Cardiovasc Dis 2021 Jun-Jul;114(6-7):443-454. Epub 2021 May 7 doi: 10.1016/j.acvd.2020.12.010. PMID: 33967015
Gibbs H, Freedman B, Rosenqvist M, Virdone S, Mahmeed WA, Ambrosio G, Camm AJ, Jacobson B, Jerjes-Sanchez C, Kayani G, Oto A, Panchenko E, Ragy H, Kakkar AK; GARFIELD-AF Investigators.
Am J Med 2021 Jul;134(7):893-901.e11. Epub 2021 Feb 16 doi: 10.1016/j.amjmed.2021.01.017. PMID: 33607088
Melis F, Guido M, Amellone C, Suppo M, Bonanno M, Bovio C, Pessia A, Savio K, Lucciola MT, Ebrille E, Guastamacchia G, Cassano D, Filippi P, Milano E, Giammaria M, Imperiale D
Neurol Sci 2021 Sep;42(9):3707-3714. Epub 2021 Jan 14 doi: 10.1007/s10072-020-04963-9. PMID: 33443664
Proietti M, Lip GYH, Laroche C, Fauchier L, Marin F, Nabauer M, Potpara T, Dan GA, Kalarus Z, Tavazzi L, Maggioni AP, Boriani G; ESC-EORP Atrial Fibrillation General Long-Term Registry Investigators Group.
Europace 2021 Feb 5;23(2):174-183. doi: 10.1093/europace/euaa274. PMID: 33006613

Therapy

Haeusler KG, Kirchhof P, Kunze C, Tütüncü S, Fiessler C, Malsch C, Olma MC, Jawad-Ul-Qamar M, Krämer M, Wachter R, Michalski D, Kraft A, Rizos T, Gröschel K, Thomalla G, Nabavi DG, Röther J, Laufs U, Veltkamp R, Heuschmann PU, Endres M; MonDAFIS Investigators.
Lancet Neurol 2021 Jun;20(6):426-436. doi: 10.1016/S1474-4422(21)00067-3. PMID: 34022169
Rusnak J, Behnes M, Reiser L, Schupp T, Bollow A, Reichelt T, Borggrefe M, Ellguth D, Engelke N, El-Battrawy I, Ansari U, Barre M, Weidner K, Müller J, Barth C, Meininghaus DG, Akin M, Bertsch T, Taton G, Akin I
Arch Cardiovasc Dis 2021 Jun-Jul;114(6-7):443-454. Epub 2021 May 7 doi: 10.1016/j.acvd.2020.12.010. PMID: 33967015
Gibbs H, Freedman B, Rosenqvist M, Virdone S, Mahmeed WA, Ambrosio G, Camm AJ, Jacobson B, Jerjes-Sanchez C, Kayani G, Oto A, Panchenko E, Ragy H, Kakkar AK; GARFIELD-AF Investigators.
Am J Med 2021 Jul;134(7):893-901.e11. Epub 2021 Feb 16 doi: 10.1016/j.amjmed.2021.01.017. PMID: 33607088
Naccarelli GV, Ruzieh M, Wolbrette DL, Sendra-Ferrer M, van Harskamp J, Bentz B, Caputo G, McConkey N, Mills K, Wasemiller S, Plamenac J, Leslie D, Glasser FD, Abendroth TW
Am J Med 2021 Jun;134(6):e366-e373. Epub 2020 Dec 24 doi: 10.1016/j.amjmed.2020.11.024. PMID: 33359273
Proietti M, Lip GYH, Laroche C, Fauchier L, Marin F, Nabauer M, Potpara T, Dan GA, Kalarus Z, Tavazzi L, Maggioni AP, Boriani G; ESC-EORP Atrial Fibrillation General Long-Term Registry Investigators Group.
Europace 2021 Feb 5;23(2):174-183. doi: 10.1093/europace/euaa274. PMID: 33006613

Prognosis

Rusnak J, Behnes M, Reiser L, Schupp T, Bollow A, Reichelt T, Borggrefe M, Ellguth D, Engelke N, El-Battrawy I, Ansari U, Barre M, Weidner K, Müller J, Barth C, Meininghaus DG, Akin M, Bertsch T, Taton G, Akin I
Arch Cardiovasc Dis 2021 Jun-Jul;114(6-7):443-454. Epub 2021 May 7 doi: 10.1016/j.acvd.2020.12.010. PMID: 33967015
Gibbs H, Freedman B, Rosenqvist M, Virdone S, Mahmeed WA, Ambrosio G, Camm AJ, Jacobson B, Jerjes-Sanchez C, Kayani G, Oto A, Panchenko E, Ragy H, Kakkar AK; GARFIELD-AF Investigators.
Am J Med 2021 Jul;134(7):893-901.e11. Epub 2021 Feb 16 doi: 10.1016/j.amjmed.2021.01.017. PMID: 33607088
Melis F, Guido M, Amellone C, Suppo M, Bonanno M, Bovio C, Pessia A, Savio K, Lucciola MT, Ebrille E, Guastamacchia G, Cassano D, Filippi P, Milano E, Giammaria M, Imperiale D
Neurol Sci 2021 Sep;42(9):3707-3714. Epub 2021 Jan 14 doi: 10.1007/s10072-020-04963-9. PMID: 33443664
Jiang J, He M, Xu Y
J Cardiothorac Vasc Anesth 2021 May;35(5):1424-1430. Epub 2020 Sep 17 doi: 10.1053/j.jvca.2020.09.107. PMID: 33041171
Petersen J, Vettorazzi E, Hakmi S, Alassar Y, Meyer C, Willems S, Wagner FM, Girdauskas E, Reichenspurner H, Pecha S
J Thorac Cardiovasc Surg 2021 May;161(5):1816-1823.e1. Epub 2019 Dec 2 doi: 10.1016/j.jtcvs.2019.10.186. PMID: 31932056

Clinical prediction guides

Rusnak J, Behnes M, Reiser L, Schupp T, Bollow A, Reichelt T, Borggrefe M, Ellguth D, Engelke N, El-Battrawy I, Ansari U, Barre M, Weidner K, Müller J, Barth C, Meininghaus DG, Akin M, Bertsch T, Taton G, Akin I
Arch Cardiovasc Dis 2021 Jun-Jul;114(6-7):443-454. Epub 2021 May 7 doi: 10.1016/j.acvd.2020.12.010. PMID: 33967015
Gibbs H, Freedman B, Rosenqvist M, Virdone S, Mahmeed WA, Ambrosio G, Camm AJ, Jacobson B, Jerjes-Sanchez C, Kayani G, Oto A, Panchenko E, Ragy H, Kakkar AK; GARFIELD-AF Investigators.
Am J Med 2021 Jul;134(7):893-901.e11. Epub 2021 Feb 16 doi: 10.1016/j.amjmed.2021.01.017. PMID: 33607088
Melis F, Guido M, Amellone C, Suppo M, Bonanno M, Bovio C, Pessia A, Savio K, Lucciola MT, Ebrille E, Guastamacchia G, Cassano D, Filippi P, Milano E, Giammaria M, Imperiale D
Neurol Sci 2021 Sep;42(9):3707-3714. Epub 2021 Jan 14 doi: 10.1007/s10072-020-04963-9. PMID: 33443664
Jiang J, He M, Xu Y
J Cardiothorac Vasc Anesth 2021 May;35(5):1424-1430. Epub 2020 Sep 17 doi: 10.1053/j.jvca.2020.09.107. PMID: 33041171
Proietti M, Lip GYH, Laroche C, Fauchier L, Marin F, Nabauer M, Potpara T, Dan GA, Kalarus Z, Tavazzi L, Maggioni AP, Boriani G; ESC-EORP Atrial Fibrillation General Long-Term Registry Investigators Group.
Europace 2021 Feb 5;23(2):174-183. doi: 10.1093/europace/euaa274. PMID: 33006613

Recent systematic reviews

Wang X, Hou Y, Wang X, Li Z, Wang X, Li H, Shang L, Zhou J, Zhang Y, Ren M, Zhang Y
Nutr Metab Cardiovasc Dis 2021 Sep 22;31(10):2756-2765. Epub 2021 Jun 18 doi: 10.1016/j.numecd.2021.05.034. PMID: 34348878
Desai A, Escamilla-Ocanas C, Dilip D, Saber H, Damani R
J Stroke Cerebrovasc Dis 2021 Apr;30(4):105654. Epub 2021 Feb 10 doi: 10.1016/j.jstrokecerebrovasdis.2021.105654. PMID: 33578352
Prasitlumkum N, Cheungpasitporn W, Chokesuwattanaskul A, Thangjui S, Thongprayoon C, Bathini T, Vallabhajosyula S, Kanitsoraphan C, Leesutipornchai T, Chokesuwattanaskul R
Arch Cardiovasc Dis 2021 Jan;114(1):4-16. Epub 2020 Sep 10 doi: 10.1016/j.acvd.2020.05.015. PMID: 32921618
Higgs M, Sim J, Traynor V
Intensive Crit Care Nurs 2020 Oct;60:102897. Epub 2020 Jun 26 doi: 10.1016/j.iccn.2020.102897. PMID: 32601010
Larsen RT, Gottliebsen CR, Wood KA, Risom SS
Eur J Cardiovasc Nurs 2020 Oct;19(7):564-579. Epub 2020 May 6 doi: 10.1177/1474515120919388. PMID: 32375493

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