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Ventricular arrhythmia

MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome; Finding
Synonym: Ventricular arrhythmias
SNOMED CT: Ventricular arrhythmia (44103008)
 
HPO: HP:0004308

Definition

A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles. [from NCI]

Conditions with this feature

Kasabach-Merritt syndrome
MedGen UID:
65122
Concept ID:
C0221025
Disease or Syndrome
Although cutaneous hemangiomas are common benign tumors in neonates, they can be life-threatening when they are associated with thrombocytopenia, consumptive coagulopathy, microangiopathic hemolytic anemia, and rapid enlargement, a clinical presentation known as Kasabach-Merritt syndrome (KMS). Untreated, KMS has a 10 to 37% mortality rate (Szlachetka, 1998). With giant hemangiomas in small children, thrombocytopenia and red cell changes compatible with trauma ('microangiopathic hemolytic anemia') have been observed. The mechanism of the hematologic changes is obscure. No evidence of a simple genetic basis has been discovered. Reviews Szlachetka (1998) reviewed the approximately 205 reported cases of KMS and discussed the pathophysiology, clinical manifestations, differential diagnosis, and treatment modalities of the disorder.
Dilated cardiomyopathy 1A
MedGen UID:
258500
Concept ID:
C1449563
Disease or Syndrome
LMNA-related dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and/or reduced systolic function preceded (sometimes by many years) by or accompanied by 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.
Dilated cardiomyopathy 1C
MedGen UID:
316944
Concept ID:
C1832244
Disease or Syndrome
An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the LDB3 gene, encoding LIM domain-binding protein 3.
Naxos disease
MedGen UID:
321991
Concept ID:
C1832600
Disease or Syndrome
Naxos disease (NXD) is characterized by arrhythmogenic right ventricular cardiomyopathy associated with abnormalities of the skin, hair, and nails. The ectodermal features are evident from birth or early childhood, whereas the cardiac symptoms develop in young adulthood or later. Clinical variability of ectodermal features has been observed, with hair anomalies ranging from woolly hair to alopecia, and skin abnormalities ranging from mild focal palmoplantar keratoderma to generalized skin fragility or even lethal neonatal epidermolysis bullosa (Protonotarios et al., 1986; Cabral et al., 2010; Pigors et al., 2011; Erken et al., 2011; Sen-Chowdhry and McKenna, 2014). Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (DCWHK; 605676) is caused by mutation in the desmoplakin gene (DSP; 125647). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645).
Dilated cardiomyopathy 1S
MedGen UID:
371831
Concept ID:
C1834481
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
Dilated cardiomyopathy 1P
MedGen UID:
322782
Concept ID:
C1835928
Disease or Syndrome
An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the PLN gene, encoding cardiac phospholamban.
Arrhythmogenic right ventricular dysplasia 10
MedGen UID:
347543
Concept ID:
C1857777
Disease or Syndrome
Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).
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.
Arrhythmogenic right ventricular dysplasia 1
MedGen UID:
349530
Concept ID:
C1862511
Disease or Syndrome
Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).
Arrhythmogenic right ventricular dysplasia 11
MedGen UID:
351237
Concept ID:
C1864850
Disease or Syndrome
Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).
Arrhythmogenic right ventricular dysplasia 4
MedGen UID:
356107
Concept ID:
C1865881
Disease or Syndrome
Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).
Arrhythmogenic right ventricular dysplasia 3
MedGen UID:
356108
Concept ID:
C1865882
Disease or Syndrome
Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).
Arrhythmogenic right ventricular dysplasia 12
MedGen UID:
409749
Concept ID:
C1969081
Disease or Syndrome
Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).
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 EKG 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 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 9
MedGen UID:
395635
Concept ID:
C2678485
Disease or Syndrome
Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG 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.
Dilated cardiomyopathy 1R
MedGen UID:
462031
Concept ID:
C3150681
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
Multiple congenital anomalies-hypotonia-seizures syndrome 2
MedGen UID:
477139
Concept ID:
C3275508
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Dilated cardiomyopathy 1NN
MedGen UID:
863093
Concept ID:
C4014656
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.
Dilated cardiomyopathy 1B
MedGen UID:
1814491
Concept ID:
C5700078
Disease or Syndrome
A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.
Thrombocytopenia 8, with dysmorphic features and developmental delay
MedGen UID:
1851006
Concept ID:
C5882677
Disease or Syndrome
Thrombocytopenia-8 with dysmorphic features and developmental delay (THC8) is an autosomal dominant syndromic disorder characterized by early-childhood onset of chronic thrombocytopenia with anisotropy and immature enlarged platelets, usually without spontaneous bleeding episodes. Affected individuals have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development (Latham et al., 2018). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.

Professional guidelines

PubMed

Jentzer JC, Noseworthy PA, Kashou AH, May AM, Chrispin J, Kabra R, Arps K, Blumer V, Tisdale JE, Solomon MA; American College of Cardiology Critical Care Cardiology and Electrophysiology Sections
J Am Coll Cardiol 2023 Jun 6;81(22):2189-2206. doi: 10.1016/j.jacc.2023.03.424. PMID: 37257955Free PMC Article
Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, Charron P, Corrado D, Dagres N, de Chillou C, Eckardt L, Friede T, Haugaa KH, Hocini M, Lambiase PD, Marijon E, Merino JL, Peichl P, Priori SG, Reichlin T, Schulz-Menger J, Sticherling C, Tzeis S, Verstrael A, Volterrani M; ESC Scientific Document Group
Eur Heart J 2022 Oct 21;43(40):3997-4126. doi: 10.1093/eurheartj/ehac262. PMID: 36017572
Sabbag A, Essayagh B, Barrera JDR, Basso C, Berni A, Cosyns B, Deharo JC, Deneke T, Di Biase L, Enriquez-Sarano M, Donal E, Imai K, Lim HS, Marsan NA, Turagam MK, Peichl P, Po SS, Haugaa KH, Shah D, de Riva Silva M, Bertrand P, Saba M, Dweck M, Townsend SN, Ngarmukos T, Fenelon G, Santangeli P, Sade LE, Corrado D, Lambiase P, Sanders P, Delacrétaz E, Jahangir A, Kaufman ES, Saggu DK, Pierard L, Delgado V, Lancellotti P
Europace 2022 Dec 9;24(12):1981-2003. doi: 10.1093/europace/euac125. PMID: 35951656

Recent clinical studies

Etiology

Bai AD, Wilkinson A, Almufleh A, Rai M, Razak F, Verma AA, Srivastava S
JAMA Netw Open 2023 Oct 2;6(10):e2339893. doi: 10.1001/jamanetworkopen.2023.39893. PMID: 37883084Free PMC Article
Curtain JP, Docherty KF, Jhund PS, Petrie MC, Inzucchi SE, Køber L, Kosiborod MN, Martinez FA, Ponikowski P, Sabatine MS, Bengtsson O, Langkilde AM, Sjöstrand M, Solomon SD, McMurray JJV
Eur Heart J 2021 Sep 21;42(36):3727-3738. doi: 10.1093/eurheartj/ehab560. PMID: 34448003Free PMC Article
Essayagh B, Sabbag A, Antoine C, Benfari G, Yang LT, Maalouf J, Asirvatham S, Michelena H, Enriquez-Sarano M
J Am Coll Cardiol 2020 Aug 11;76(6):637-649. doi: 10.1016/j.jacc.2020.06.029. PMID: 32762897
Trohman RG, Sharma PS, McAninch EA, Bianco AC
Trends Cardiovasc Med 2019 Jul;29(5):285-295. Epub 2018 Sep 20 doi: 10.1016/j.tcm.2018.09.005. PMID: 30309693Free PMC Article
Guasch E, Mont L
Nat Rev Cardiol 2017 Feb;14(2):88-101. Epub 2016 Nov 10 doi: 10.1038/nrcardio.2016.173. PMID: 27830772

Diagnosis

Bai AD, Wilkinson A, Almufleh A, Rai M, Razak F, Verma AA, Srivastava S
JAMA Netw Open 2023 Oct 2;6(10):e2339893. doi: 10.1001/jamanetworkopen.2023.39893. PMID: 37883084Free PMC Article
Ray L, Geier C, DeWitt KM
Am J Health Syst Pharm 2023 Aug 18;80(17):1123-1136. doi: 10.1093/ajhp/zxad115. PMID: 37235971
Essayagh B, Sabbag A, Antoine C, Benfari G, Yang LT, Maalouf J, Asirvatham S, Michelena H, Enriquez-Sarano M
J Am Coll Cardiol 2020 Aug 11;76(6):637-649. doi: 10.1016/j.jacc.2020.06.029. PMID: 32762897
Trohman RG, Sharma PS, McAninch EA, Bianco AC
Trends Cardiovasc Med 2019 Jul;29(5):285-295. Epub 2018 Sep 20 doi: 10.1016/j.tcm.2018.09.005. PMID: 30309693Free PMC Article
Guasch E, Mont L
Nat Rev Cardiol 2017 Feb;14(2):88-101. Epub 2016 Nov 10 doi: 10.1038/nrcardio.2016.173. PMID: 27830772

Therapy

Bai AD, Wilkinson A, Almufleh A, Rai M, Razak F, Verma AA, Srivastava S
JAMA Netw Open 2023 Oct 2;6(10):e2339893. doi: 10.1001/jamanetworkopen.2023.39893. PMID: 37883084Free PMC Article
Perera D, Morgan HP, Ryan M, Dodd M, Clayton T, O'Kane PD, Greenwood JP, Walsh SJ, Weerackody R, McDiarmid A, Amin-Youssef G, Strange J, Modi B, Lockie T, Hogrefe K, Ahmed FZ, Behan M, Jenkins N, Abdelaal E, Anderson M, Watkins S, Evans R, Rinaldi CA, Petrie MC; REVIVED-BCIS2 Investigators
Circulation 2023 Sep 12;148(11):862-871. Epub 2023 Aug 9 doi: 10.1161/CIRCULATIONAHA.123.065300. PMID: 37555345Free PMC Article
Curtain JP, Docherty KF, Jhund PS, Petrie MC, Inzucchi SE, Køber L, Kosiborod MN, Martinez FA, Ponikowski P, Sabatine MS, Bengtsson O, Langkilde AM, Sjöstrand M, Solomon SD, McMurray JJV
Eur Heart J 2021 Sep 21;42(36):3727-3738. doi: 10.1093/eurheartj/ehab560. PMID: 34448003Free PMC Article
Ogata H, Fukagawa M, Hirakata H, Kagimura T, Fukushima M, Akizawa T; LANDMARK Investigators and Committees
JAMA 2021 May 18;325(19):1946-1954. doi: 10.1001/jama.2021.4807. PMID: 34003226Free PMC Article
Trohman RG, Sharma PS, McAninch EA, Bianco AC
Trends Cardiovasc Med 2019 Jul;29(5):285-295. Epub 2018 Sep 20 doi: 10.1016/j.tcm.2018.09.005. PMID: 30309693Free PMC Article

Prognosis

Fernandes GC, Fernandes A, Cardoso R, Penalver J, Knijnik L, Mitrani RD, Myerburg RJ, Goldberger JJ
Heart Rhythm 2021 Jul;18(7):1098-1105. Epub 2021 Mar 20 doi: 10.1016/j.hrthm.2021.03.028. PMID: 33757845
Stiles MK, Wilde AAM, Abrams DJ, Ackerman MJ, Albert CM, Behr ER, Chugh SS, Cornel MC, Gardner K, Ingles J, James CA, Jimmy Juang JM, Kääb S, Kaufman ES, Krahn AD, Lubitz SA, MacLeod H, Morillo CA, Nademanee K, Probst V, Saarel EV, Sacilotto L, Semsarian C, Sheppard MN, Shimizu W, Skinner JR, Tfelt-Hansen J, Wang DW
Heart Rhythm 2021 Jan;18(1):e1-e50. Epub 2020 Oct 19 doi: 10.1016/j.hrthm.2020.10.010. PMID: 33091602Free PMC Article
van der Ven JPG, van den Bosch E, Bogers AJCC, Helbing WA
F1000Res 2019;8 Epub 2019 Aug 29 doi: 10.12688/f1000research.17174.1. PMID: 31508203Free PMC Article
Wong CX, Brown A, Lau DH, Chugh SS, Albert CM, Kalman JM, Sanders P
Heart Lung Circ 2019 Jan;28(1):6-14. Epub 2018 Sep 24 doi: 10.1016/j.hlc.2018.08.026. PMID: 30482683
Dresen WF, Ferguson JD
Cardiol Clin 2018 Feb;36(1):129-139. Epub 2017 Oct 27 doi: 10.1016/j.ccl.2017.08.007. PMID: 29173673

Clinical prediction guides

Bai AD, Wilkinson A, Almufleh A, Rai M, Razak F, Verma AA, Srivastava S
JAMA Netw Open 2023 Oct 2;6(10):e2339893. doi: 10.1001/jamanetworkopen.2023.39893. PMID: 37883084Free PMC Article
Curtain JP, Docherty KF, Jhund PS, Petrie MC, Inzucchi SE, Køber L, Kosiborod MN, Martinez FA, Ponikowski P, Sabatine MS, Bengtsson O, Langkilde AM, Sjöstrand M, Solomon SD, McMurray JJV
Eur Heart J 2021 Sep 21;42(36):3727-3738. doi: 10.1093/eurheartj/ehab560. PMID: 34448003Free PMC Article
Essayagh B, Sabbag A, Antoine C, Benfari G, Batista R, Yang LT, Maalouf J, Thapa P, Asirvatham S, Michelena HI, Enriquez-Sarano M
JACC Cardiovasc Imaging 2021 Nov;14(11):2073-2087. Epub 2021 Jun 16 doi: 10.1016/j.jcmg.2021.04.029. PMID: 34147457
Trohman RG, Sharma PS, McAninch EA, Bianco AC
Trends Cardiovasc Med 2019 Jul;29(5):285-295. Epub 2018 Sep 20 doi: 10.1016/j.tcm.2018.09.005. PMID: 30309693Free PMC Article
Kalla M, Herring N, Paterson DJ
Auton Neurosci 2016 Aug;199:29-37. Epub 2016 Aug 26 doi: 10.1016/j.autneu.2016.08.016. PMID: 27590099Free PMC Article

Recent systematic reviews

Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Trohman RG, Sharma PS, McAninch EA, Bianco AC
Trends Cardiovasc Med 2019 Jul;29(5):285-295. Epub 2018 Sep 20 doi: 10.1016/j.tcm.2018.09.005. PMID: 30309693Free PMC Article
McIntyre WF, Um KJ, Alhazzani W, Lengyel AP, Hajjar L, Gordon AC, Lamontagne F, Healey JS, Whitlock RP, Belley-Côté EP
JAMA 2018 May 8;319(18):1889-1900. doi: 10.1001/jama.2018.4528. PMID: 29801010Free PMC Article
McKelvie RS
BMJ Clin Evid 2011 Aug 30;2011 PMID: 21878135Free PMC Article
McKelvie RS
BMJ Clin Evid 2010 Feb 25;2010 PMID: 21718583Free PMC Article

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