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Arrhythmogenic right ventricular dysplasia 11(ARVC11; ARVD11)

MedGen UID:
351237
Concept ID:
C1864850
Disease or Syndrome
Synonyms: Arrhythmogenic right ventricular cardiomyopathy, type 11; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11
 
Gene (location): DSC2 (18q12.1)
 
Monarch Initiative: MONDO:0012506
OMIM®: 610476

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
Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.

Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.

Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.  https://medlineplus.gov/genetics/condition/keratoderma-with-woolly-hair
From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
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.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
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 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.
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.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
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

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
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C
Int J Cardiol 2020 Nov 15;319:106-114. Epub 2020 Jun 16 doi: 10.1016/j.ijcard.2020.06.005. PMID: 32561223
Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM 3rd, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Tintelen JP, Wilde AAM, Zareba W
Heart Rhythm 2019 Nov;16(11):e301-e372. Epub 2019 May 9 doi: 10.1016/j.hrthm.2019.05.007. PMID: 31078652

Recent clinical studies

Etiology

Lota AS, Hazebroek MR, Theotokis P, Wassall R, Salmi S, Halliday BP, Tayal U, Verdonschot J, Meena D, Owen R, de Marvao A, Iacob A, Yazdani M, Hammersley DJ, Jones RE, Wage R, Buchan R, Vivian F, Hafouda Y, Noseda M, Gregson J, Mittal T, Wong J, Robertus JL, Baksi AJ, Vassiliou V, Tzoulaki I, Pantazis A, Cleland JGF, Barton PJR, Cook SA, Pennell DJ, Garcia-Pavia P, Cooper LT Jr, Heymans S, Ware JS, Prasad SK
Circulation 2022 Oct 11;146(15):1123-1134. Epub 2022 Sep 26 doi: 10.1161/CIRCULATIONAHA.121.058457. PMID: 36154167Free PMC Article
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
Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM 3rd, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Tintelen JP, Wilde AAM, Zareba W
Heart Rhythm 2019 Nov;16(11):e301-e372. Epub 2019 May 9 doi: 10.1016/j.hrthm.2019.05.007. PMID: 31078652
Liang E, Wu L, Fan S, Li X, Hu F, Zheng L, Fan X, Chen G, Ding L, Yao Y
Am J Cardiol 2019 May 15;123(10):1690-1695. Epub 2019 Feb 23 doi: 10.1016/j.amjcard.2019.02.032. PMID: 30885416
Müssigbrodt A, Bertagnolli L, Efimova E, Kosiuk J, Dinov B, Bode K, Kircher S, Dagres N, Döring M, Richter S, Sommer P, Husser D, Bollmann A, Hindricks G, Arya A
Herzschrittmacherther Elektrophysiol 2017 Jun;28(2):219-224. Epub 2017 May 23 doi: 10.1007/s00399-017-0508-0. PMID: 28536891

Diagnosis

Lota AS, Hazebroek MR, Theotokis P, Wassall R, Salmi S, Halliday BP, Tayal U, Verdonschot J, Meena D, Owen R, de Marvao A, Iacob A, Yazdani M, Hammersley DJ, Jones RE, Wage R, Buchan R, Vivian F, Hafouda Y, Noseda M, Gregson J, Mittal T, Wong J, Robertus JL, Baksi AJ, Vassiliou V, Tzoulaki I, Pantazis A, Cleland JGF, Barton PJR, Cook SA, Pennell DJ, Garcia-Pavia P, Cooper LT Jr, Heymans S, Ware JS, Prasad SK
Circulation 2022 Oct 11;146(15):1123-1134. Epub 2022 Sep 26 doi: 10.1161/CIRCULATIONAHA.121.058457. PMID: 36154167Free PMC Article
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
James CA, Jongbloed JDH, Hershberger RE, Morales A, Judge DP, Syrris P, Pilichou K, Domingo AM, Murray B, Cadrin-Tourigny J, Lekanne Deprez R, Celeghin R, Protonotarios A, Asatryan B, Brown E, Jordan E, McGlaughon J, Thaxton C, Kurtz CL, van Tintelen JP
Circ Genom Precis Med 2021 Jun;14(3):e003273. Epub 2021 Apr 8 doi: 10.1161/CIRCGEN.120.003273. PMID: 33831308Free PMC Article
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C
Int J Cardiol 2020 Nov 15;319:106-114. Epub 2020 Jun 16 doi: 10.1016/j.ijcard.2020.06.005. PMID: 32561223
Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM 3rd, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Tintelen JP, Wilde AAM, Zareba W
Heart Rhythm 2019 Nov;16(11):e301-e372. Epub 2019 May 9 doi: 10.1016/j.hrthm.2019.05.007. PMID: 31078652

Therapy

James CA, Jongbloed JDH, Hershberger RE, Morales A, Judge DP, Syrris P, Pilichou K, Domingo AM, Murray B, Cadrin-Tourigny J, Lekanne Deprez R, Celeghin R, Protonotarios A, Asatryan B, Brown E, Jordan E, McGlaughon J, Thaxton C, Kurtz CL, van Tintelen JP
Circ Genom Precis Med 2021 Jun;14(3):e003273. Epub 2021 Apr 8 doi: 10.1161/CIRCGEN.120.003273. PMID: 33831308Free PMC Article
Cardona-Guarache R, Åström-Aneq M, Oesterle A, Asirvatham R, Svetlichnaya J, Marcus GM, Gerstenfeld EP, Klein L, Scheinman MM
J Cardiovasc Electrophysiol 2019 Oct;30(10):1801-1810. Epub 2019 Jul 24 doi: 10.1111/jce.14069. PMID: 31310380
Mathew S, Saguner AM, Schenker N, Kaiser L, Zhang P, Yashuiro Y, Lemes C, Fink T, Maurer T, Santoro F, Wohlmuth P, Reißmann B, Heeger CH, Tilz R, Wissner E, Rillig A, Metzner A, Kuck KH, Ouyang F
J Am Heart Assoc 2019 Mar 5;8(5):e010365. doi: 10.1161/JAHA.118.010365. PMID: 30813830Free PMC Article
Hodes AR, Tichnell C, Te Riele AS, Murray B, Groeneweg JA, Sawant AC, Russell SD, van Spaendonck-Zwarts KY, van den Berg MP, Wilde AA, Tandri H, Judge DP, Hauer RN, Calkins H, van Tintelen JP, James CA
Heart 2016 Feb 15;102(4):303-12. Epub 2015 Dec 30 doi: 10.1136/heartjnl-2015-308624. PMID: 26719359Free PMC Article
Al-Ghamdi B, Shafquat A, Mallawi Y
Ann Saudi Med 2014 Sep-Oct;34(5):415-26. doi: 10.5144/0256-4947.2014.415. PMID: 25827699Free PMC Article

Prognosis

Leopoulou M, Mattsson G, LeQuang JA, Pergolizzi JV, Varrassi G, Wallhagen M, Magnusson P
Expert Rev Cardiovasc Ther 2020 Nov;18(11):801-808. Epub 2020 Oct 8 doi: 10.1080/14779072.2020.1828064. PMID: 32966140
Reza N, Musunuru K, Owens AT
Curr Heart Fail Rep 2019 Oct;16(5):157-167. doi: 10.1007/s11897-019-00435-0. PMID: 31243690Free PMC Article
Liang E, Wu L, Fan S, Li X, Hu F, Zheng L, Fan X, Chen G, Ding L, Yao Y
Am J Cardiol 2019 May 15;123(10):1690-1695. Epub 2019 Feb 23 doi: 10.1016/j.amjcard.2019.02.032. PMID: 30885416
Oomen AWGJ, Semsarian C, Puranik R, Sy RW
Heart Lung Circ 2018 Nov;27(11):1310-1317. Epub 2018 Apr 4 doi: 10.1016/j.hlc.2018.03.023. PMID: 29705385
Müssigbrodt A, Bertagnolli L, Efimova E, Kosiuk J, Dinov B, Bode K, Kircher S, Dagres N, Döring M, Richter S, Sommer P, Husser D, Bollmann A, Hindricks G, Arya A
Herzschrittmacherther Elektrophysiol 2017 Jun;28(2):219-224. Epub 2017 May 23 doi: 10.1007/s00399-017-0508-0. PMID: 28536891

Clinical prediction guides

Carrick RT, Te Riele ASJM, Gasperetti A, Bosman L, Muller SA, Pendleton C, Tichnell C, Murray B, Yap SC, van den Berg MP, Wilde A, Zeppenfeld K, Hays A, Zimmerman SL, Tandri H, Cadrin-Tourigny J, van Tintelen P, Calkins H, James CA, Wu KC
Circ Arrhythm Electrophysiol 2022 Nov;15(11):e011207. Epub 2022 Oct 31 doi: 10.1161/CIRCEP.122.011207. PMID: 36315818Free PMC Article
Monaco C, Galli A, Pannone L, Bisignani A, Miraglia V, Gauthey A, Al Housari M, Mojica J, Del Monte A, Lipartiti F, Rizzi S, Mouram S, Calburean PA, Ramark R, Pappaert G, Eltsov I, Bala G, Sorgente A, Overeinder I, Almorad A, Stroker E, Sieira J, Brugada P, Chierchia GB, La Meir M, de Asmundis C
Am J Cardiol 2022 Oct 15;181:45-54. Epub 2022 Aug 13 doi: 10.1016/j.amjcard.2022.07.011. PMID: 35973836
Pérez-Hernández M, van Opbergen CJM, Bagwan N, Vissing CR, Marrón-Liñares GM, Zhang M, Torres Vega E, Sorrentino A, Drici L, Sulek K, Zhai R, Hansen FB, Christensen AH, Boesgaard S, Gustafsson F, Rossing K, Small EM, Davies MJ, Rothenberg E, Sato PY, Cerrone M, Jensen THL, Qvortrup K, Bundgaard H, Delmar M, Lundby A
Circulation 2022 Sep 13;146(11):851-867. Epub 2022 Aug 12 doi: 10.1161/CIRCULATIONAHA.122.060454. PMID: 35959657Free PMC Article
Fujino M, Miyazaki A, Furukawa O, Somura J, Yoshida Y, Hayama Y, Kamakura S, Negishi J, Wada M, Kusano K, Ohuchi H
Heart Vessels 2021 Jun;36(6):863-873. Epub 2021 Jan 29 doi: 10.1007/s00380-020-01754-2. PMID: 33511492
Zghaib T, Bourfiss M, van der Heijden JF, Loh P, Hauer RN, Tandri H, Calkins H, Nazarian S, Te Riele ASJM, Zimmerman SL, Velthuis BK
Circ Cardiovasc Imaging 2018 Sep;11(9):e007344. doi: 10.1161/CIRCIMAGING.117.007344. PMID: 30354672

Recent systematic reviews

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