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Arrhythmogenic right ventricular dysplasia 12(ARVD12; ARVC12)

MedGen UID:
409749
Concept ID:
C1969081
Disease or Syndrome
Synonyms: Arrhythmogenic right ventricular cardiomyopathy, type 12; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12
 
Gene (location): JUP (17q21.2)
 
Monarch Initiative: MONDO:0012684
OMIM®: 611528

Authors:
Elizabeth McNally  |  Heather MacLeod  |  Lisa Dellefave-Castillo   view full author information

Additional descriptions

From GeneReviews Overview
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).
From MedlinePlus Genetics
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.

ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.  https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Prolonged QRS complex
MedGen UID:
489828
Concept ID:
C0235475
Finding
Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.
T-wave inversion
MedGen UID:
105467
Concept ID:
C0520888
Finding
An inversion of the T-wave (which is normally positive).
Right ventricular cardiomyopathy
MedGen UID:
384481
Concept ID:
C2063326
Disease or Syndrome
Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding
The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Boonstra M, Kloosterman M, van der Schaaf I, Roudijk R, van Dam P, Loh P
J Electrocardiol 2023 Jan-Feb;76:55-60. Epub 2022 Nov 14 doi: 10.1016/j.jelectrocard.2022.10.013. PMID: 36436475
Moccia E, Papatheodorou E, Miles CJ, Merghani A, Malhotra A, Dhutia H, Bastiaenen R, Sheikh N, Zaidi A, Sanna GD, Homfray T, Bunce N, Anderson LJ, Tome M, Behr E, Moon J, Sharma S, Finocchiaro G, Papadakis M
Int J Cardiovasc Imaging 2022 Dec;38(12):2723-2732. Epub 2022 Jul 21 doi: 10.1007/s10554-022-02684-y. PMID: 36445664
Protonotarios A, Bariani R, Cappelletto C, Pavlou M, García-García A, Cipriani A, Protonotarios I, Rivas A, Wittenberg R, Graziosi M, Xylouri Z, Larrañaga-Moreira JM, de Luca A, Celeghin R, Pilichou K, Bakalakos A, Lopes LR, Savvatis K, Stolfo D, Dal Ferro M, Merlo M, Basso C, Freire JL, Rodriguez-Palomares JF, Kubo T, Ripoll-Vera T, Barriales-Villa R, Antoniades L, Mogensen J, Garcia-Pavia P, Wahbi K, Biagini E, Anastasakis A, Tsatsopoulou A, Zorio E, Gimeno JR, Garcia-Pinilla JM, Syrris P, Sinagra G, Bauce B, Elliott PM
Eur Heart J 2022 Aug 21;43(32):3053-3067. doi: 10.1093/eurheartj/ehac235. PMID: 35766183Free PMC Article

Recent clinical studies

Etiology

Roudijk RW, Verheul L, Bosman LP, Bourfiss M, Breur JMPJ, Slieker MG, Blank AC, Dooijes D, van der Heijden JF, van den Heuvel F, Clur SA, Udink Ten Cate FEA, van den Berg MP, Wilde AAM, Asselbergs FW, Peter van Tintelen J, Te Riele ASJM
JACC Clin Electrophysiol 2022 Mar;8(3):306-318. Epub 2021 Dec 22 doi: 10.1016/j.jacep.2021.09.001. PMID: 35331425
Bennett RG, Haqqani HM, Berruezo A, Della Bella P, Marchlinski FE, Hsu CJ, Kumar S
Heart Lung Circ 2019 Jan;28(1):164-177. Epub 2018 Oct 24 doi: 10.1016/j.hlc.2018.10.013. PMID: 30446243
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Hoorntje ET, Te Rijdt WP, James CA, Pilichou K, Basso C, Judge DP, Bezzina CR, van Tintelen JP
Cardiovasc Res 2017 Oct 1;113(12):1521-1531. doi: 10.1093/cvr/cvx150. PMID: 28957532
Azaouagh A, Churzidse S, Konorza T, Erbel R
Clin Res Cardiol 2011 May;100(5):383-94. Epub 2011 Mar 1 doi: 10.1007/s00392-011-0295-2. PMID: 21360243

Diagnosis

Moccia E, Papatheodorou E, Miles CJ, Merghani A, Malhotra A, Dhutia H, Bastiaenen R, Sheikh N, Zaidi A, Sanna GD, Homfray T, Bunce N, Anderson LJ, Tome M, Behr E, Moon J, Sharma S, Finocchiaro G, Papadakis M
Int J Cardiovasc Imaging 2022 Dec;38(12):2723-2732. Epub 2022 Jul 21 doi: 10.1007/s10554-022-02684-y. PMID: 36445664
Bourfiss M, van Vugt M, Alasiri AI, Ruijsink B, van Setten J, Schmidt AF, Dooijes D, Puyol-Antón E, Velthuis BK, van Tintelen JP, Te Riele ASJM, Baas AF, Asselbergs FW
Circ Genom Precis Med 2022 Dec;15(6):e003704. Epub 2022 Oct 20 doi: 10.1161/CIRCGEN.122.003704. PMID: 36264615Free PMC Article
Assis FR, Tandri H
Card Electrophysiol Clin 2020 Sep;12(3):329-343. Epub 2020 Jul 8 doi: 10.1016/j.ccep.2020.05.005. PMID: 32771187
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Khan AA, Safi L, Wood M
Methodist Debakey Cardiovasc J 2016 Apr-Jun;12(2):86-92. doi: 10.14797/mdcj-12-2-86. PMID: 27486490Free PMC Article

Therapy

Wang W, Gasperetti A, Sears SF, Tichnell C, Murray B, Tandri H, James CA, Calkins H
JACC Clin Electrophysiol 2023 Mar;9(3):394-402. Epub 2022 Oct 31 doi: 10.1016/j.jacep.2022.09.020. PMID: 36328892
Agbaedeng TA, Roberts KA, Colley L, Noubiap JJ, Oxborough D
Europace 2022 Oct 13;24(10):1665-1674. doi: 10.1093/europace/euac014. PMID: 35298614Free PMC Article
Woźniak O, Borowiec K, Konka M, Cicha-Mikołajczyk A, Przybylski A, Szumowski Ł, Hoffman P, Poślednik K, Biernacka EK
Heart 2022 Jan;108(1):22-28. Epub 2021 Mar 4 doi: 10.1136/heartjnl-2020-318415. PMID: 33674353
Assis FR, Sharma A, Daimee UA, Murray B, Tichnell C, Agafonova J, James CA, Calkins H, Tandri H
J Cardiovasc Electrophysiol 2021 Jun;32(6):1665-1674. Epub 2021 Apr 14 doi: 10.1111/jce.15025. PMID: 33783912
AbdelWahab A, Gardner M, Parkash R, Gray C, Sapp J
J Cardiovasc Electrophysiol 2018 Jan;29(1):90-97. Epub 2017 Oct 26 doi: 10.1111/jce.13353. PMID: 28960618

Prognosis

Moccia E, Papatheodorou E, Miles CJ, Merghani A, Malhotra A, Dhutia H, Bastiaenen R, Sheikh N, Zaidi A, Sanna GD, Homfray T, Bunce N, Anderson LJ, Tome M, Behr E, Moon J, Sharma S, Finocchiaro G, Papadakis M
Int J Cardiovasc Imaging 2022 Dec;38(12):2723-2732. Epub 2022 Jul 21 doi: 10.1007/s10554-022-02684-y. PMID: 36445664
Roudijk RW, Verheul L, Bosman LP, Bourfiss M, Breur JMPJ, Slieker MG, Blank AC, Dooijes D, van der Heijden JF, van den Heuvel F, Clur SA, Udink Ten Cate FEA, van den Berg MP, Wilde AAM, Asselbergs FW, Peter van Tintelen J, Te Riele ASJM
JACC Clin Electrophysiol 2022 Mar;8(3):306-318. Epub 2021 Dec 22 doi: 10.1016/j.jacep.2021.09.001. PMID: 35331425
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Frangogiannis NG
Cardiovasc Res 2017 Oct 1;113(12):1453-1464. doi: 10.1093/cvr/cvx146. PMID: 28957531Free PMC Article
Azaouagh A, Churzidse S, Konorza T, Erbel R
Clin Res Cardiol 2011 May;100(5):383-94. Epub 2011 Mar 1 doi: 10.1007/s00392-011-0295-2. PMID: 21360243

Clinical prediction guides

Roudijk RW, Verheul L, Bosman LP, Bourfiss M, Breur JMPJ, Slieker MG, Blank AC, Dooijes D, van der Heijden JF, van den Heuvel F, Clur SA, Udink Ten Cate FEA, van den Berg MP, Wilde AAM, Asselbergs FW, Peter van Tintelen J, Te Riele ASJM
JACC Clin Electrophysiol 2022 Mar;8(3):306-318. Epub 2021 Dec 22 doi: 10.1016/j.jacep.2021.09.001. PMID: 35331425
Donnelly D, Patrick D, Weir RA
Emerg Med J 2018 Dec;35(12):764-772. Epub 2018 Mar 5 doi: 10.1136/emermed-2017-207434. PMID: 29507049
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Frangogiannis NG
Cardiovasc Res 2017 Oct 1;113(12):1453-1464. doi: 10.1093/cvr/cvx146. PMID: 28957531Free PMC Article
Azaouagh A, Churzidse S, Konorza T, Erbel R
Clin Res Cardiol 2011 May;100(5):383-94. Epub 2011 Mar 1 doi: 10.1007/s00392-011-0295-2. PMID: 21360243

Recent systematic reviews

Bariani R, Rigato I, Cipriani A, Bueno Marinas M, Celeghin R, Basso C, Corrado D, Pilichou K, Bauce B
Biomolecules 2022 Sep 19;12(9) doi: 10.3390/biom12091324. PMID: 36139162Free PMC Article
Rujirachun P, Wattanachayakul P, Charoenngam N, Winijkul A, Ungprasert P
J Cardiovasc Med (Hagerstown) 2020 May;21(5):368-376. doi: 10.2459/JCM.0000000000000962. PMID: 32243340
Mu J, Zhang G, Xue D, Xi M, Qi J, Dong H
Medicine (Baltimore) 2017 Nov;96(47):e8808. doi: 10.1097/MD.0000000000008808. PMID: 29381985Free PMC Article

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