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Arrhythmogenic right ventricular dysplasia 8(ARVD8)

MedGen UID:
336069
•Concept ID:
C1843896
•
Disease or Syndrome
Synonyms: Arrhythmogenic right ventricular cardiomyopathy, type 8; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8; ARVD8
 
Gene (location): DSP (6p24.3)
 
Monarch Initiative: MONDO:0011831
OMIM®: 607450

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

Additional descriptions

From OMIM
ARVD8 is characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography (Rampazzo et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see 107970.  http://www.omim.org/entry/607450
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
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).
See: Feature record | Search on this feature
Congestive heart failure
MedGen UID:
9169
•Concept ID:
C0018802
•
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
See: Feature record | Search on this feature
Ventricular fibrillation
MedGen UID:
21844
•Concept ID:
C0042510
•
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Premature ventricular contraction
MedGen UID:
56236
•Concept ID:
C0151636
•
Disease or Syndrome
Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Wooly hair
MedGen UID:
87469
•Concept ID:
C0343073
•
Finding
The term wooly 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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

August 2019 at a glance: arrhythmogenic cardiomyopathy, biomarkers of inflammation, insulin treatment, initiation of sacubitril/valsartan, and pharmacy-based intervention to increase medication adherence.
Metra M
Eur J Heart Fail 2019 Aug;21(8):951-952. doi: 10.1002/ejhf.1268. PMID: 31389147
Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report.
Elliott PM, Anastasakis A, Asimaki A, Basso C, Bauce B, Brooke MA, Calkins H, Corrado D, Duru F, Green KJ, Judge DP, Kelsell D, Lambiase PD, McKenna WJ, Pilichou K, Protonotarios A, Saffitz JE, Syrris P, Tandri H, Te Riele A, Thiene G, Tsatsopoulou A, van Tintelen JP
Eur J Heart Fail 2019 Aug;21(8):955-964. Epub 2019 Jun 18 doi: 10.1002/ejhf.1534. PMID: 31210398Free PMC Article
MY APPROACH to the diagnosis and treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)(⁎).
Marcus FL
Trends Cardiovasc Med 2016 Nov;26(8):733-734. Epub 2016 Jul 1 doi: 10.1016/j.tcm.2015.10.013. PMID: 27553816

Recent clinical studies

Etiology

Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
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
Arrhythmogenic Right Ventricular Cardiomyopathy.
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS
Circulation 2020 Jun 9;141(23):1872-1884. Epub 2020 May 6 doi: 10.1161/CIRCULATIONAHA.119.044934. PMID: 32372669Free PMC Article
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
Lorenzon A, Pilichou K, Rigato I, Vazza G, De Bortoli M, Calore M, Occhi G, Carturan E, Lazzarini E, Cason M, Mazzotti E, Poloni G, Mostacciuolo ML, Daliento L, Thiene G, Corrado D, Basso C, Bauce B, Rampazzo A
Am J Cardiol 2015 Oct 15;116(8):1245-51. Epub 2015 Jul 28 doi: 10.1016/j.amjcard.2015.07.037. PMID: 26310507
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, Murray B, Wiesfeld AC, Sawant AC, Kassamali B, Atsma DE, Volders PG, de Groot NM, de Boer K, Zimmerman SL, Kamel IR, van der Heijden JF, Russell SD, Jan Cramer M, Tedford RJ, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Hauer RN, Calkins H
Circ Cardiovasc Genet 2015 Jun;8(3):437-46. Epub 2015 Mar 27 doi: 10.1161/CIRCGENETICS.114.001003. PMID: 25820315

Diagnosis

Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
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
Arrhythmogenic Right Ventricular Cardiomyopathy.
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS
Circulation 2020 Jun 9;141(23):1872-1884. Epub 2020 May 6 doi: 10.1161/CIRCULATIONAHA.119.044934. PMID: 32372669Free PMC Article
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, Murray B, Wiesfeld AC, Sawant AC, Kassamali B, Atsma DE, Volders PG, de Groot NM, de Boer K, Zimmerman SL, Kamel IR, van der Heijden JF, Russell SD, Jan Cramer M, Tedford RJ, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Hauer RN, Calkins H
Circ Cardiovasc Genet 2015 Jun;8(3):437-46. Epub 2015 Mar 27 doi: 10.1161/CIRCGENETICS.114.001003. PMID: 25820315
Isolated left ventricular arrhythmogenic dysplasia.
Galvão Braga C, Silva P, Salgado A, Magalhães S, Themudo R
Eur Heart J Cardiovasc Imaging 2014 Aug;15(8):907. Epub 2014 Feb 20 doi: 10.1093/ehjci/jeu023. PMID: 24562184

Therapy

Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe.
Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J
Eur Heart J 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. PMID: 38195003Free PMC Article
Arrhythmogenic Right Ventricular Cardiomyopathy.
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report.
Elliott PM, Anastasakis A, Asimaki A, Basso C, Bauce B, Brooke MA, Calkins H, Corrado D, Duru F, Green KJ, Judge DP, Kelsell D, Lambiase PD, McKenna WJ, Pilichou K, Protonotarios A, Saffitz JE, Syrris P, Tandri H, Te Riele A, Thiene G, Tsatsopoulou A, van Tintelen JP
Eur J Heart Fail 2019 Aug;21(8):955-964. Epub 2019 Jun 18 doi: 10.1002/ejhf.1534. PMID: 31210398Free PMC Article
Atypical complications encountered with epicardial electrophysiological procedures.
Killu AM, Friedman PA, Mulpuru SK, Munger TM, Packer DL, Asirvatham SJ
Heart Rhythm 2013 Nov;10(11):1613-21. Epub 2013 Aug 22 doi: 10.1016/j.hrthm.2013.08.019. PMID: 23973948
The year in clinical cardiac electrophysiology.
Marcus GM, Scheinman MM, Keung E
J Am Coll Cardiol 2010 Aug 17;56(8):667-76. doi: 10.1016/j.jacc.2010.05.017. PMID: 20705224

Prognosis

Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe.
Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J
Eur Heart J 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. PMID: 38195003Free PMC Article
Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy.
Muller SA, Gasperetti A, Bosman LP, Schmidt AF, Baas AF, Amin AS, Houweling AC, Wilde AAM, Compagnucci P, Targetti M, Casella M, Calò L, Tondo C, van der Harst P, Asselbergs FW, van Tintelen JP, Oerlemans MIFJ, Te Riele ASJM
J Am Coll Cardiol 2023 Jul 18;82(3):214-225. Epub 2023 May 18 doi: 10.1016/j.jacc.2023.05.005. PMID: 37210036
External Validation of a Risk Prediction Model for Ventricular Arrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy.
Baudinaud P, Laredo M, Badenco N, Rouanet S, Waintraub X, Duthoit G, Hidden-Lucet F, Redheuil A, Maupain C, Gandjbakhch E
Can J Cardiol 2021 Aug;37(8):1263-1266. Epub 2021 Mar 4 doi: 10.1016/j.cjca.2021.02.018. PMID: 33675936
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, Murray B, Wiesfeld AC, Sawant AC, Kassamali B, Atsma DE, Volders PG, de Groot NM, de Boer K, Zimmerman SL, Kamel IR, van der Heijden JF, Russell SD, Jan Cramer M, Tedford RJ, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Hauer RN, Calkins H
Circ Cardiovasc Genet 2015 Jun;8(3):437-46. Epub 2015 Mar 27 doi: 10.1161/CIRCGENETICS.114.001003. PMID: 25820315
Atypical complications encountered with epicardial electrophysiological procedures.
Killu AM, Friedman PA, Mulpuru SK, Munger TM, Packer DL, Asirvatham SJ
Heart Rhythm 2013 Nov;10(11):1613-21. Epub 2013 Aug 22 doi: 10.1016/j.hrthm.2013.08.019. PMID: 23973948

Clinical prediction guides

Clinical features and outcomes in carriers of pathogenic desmoplakin variants.
Gasperetti A, Carrick RT, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Lekanne RH, Syrris P, Cannie D, Tichnell C, Cappelletto C, Gigli M, Medo K, Saguner AM, Duru F, Gilotra NA, Zimmerman S, Hylind R, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Dittmann S, Schulze-Bahr E, Qureshi M, Young K, Carruth ED, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott PM, Calkins H, James CA
Eur Heart J 2025 Jan 21;46(4):362-376. doi: 10.1093/eurheartj/ehae571. PMID: 39288222Free PMC Article
Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe.
Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J
Eur Heart J 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. PMID: 38195003Free PMC Article
Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy.
Muller SA, Gasperetti A, Bosman LP, Schmidt AF, Baas AF, Amin AS, Houweling AC, Wilde AAM, Compagnucci P, Targetti M, Casella M, Calò L, Tondo C, van der Harst P, Asselbergs FW, van Tintelen JP, Oerlemans MIFJ, Te Riele ASJM
J Am Coll Cardiol 2023 Jul 18;82(3):214-225. Epub 2023 May 18 doi: 10.1016/j.jacc.2023.05.005. PMID: 37210036
Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy.
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
Modeling inherited cardiac disorders.
Sallam K, Kodo K, Wu JC
Circ J 2014;78(4):784-94. Epub 2014 Mar 17 doi: 10.1253/circj.cj-14-0182. PMID: 24632794Free PMC Article

Recent systematic reviews

Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.
Cianci V, Forzese E, Sapienza D, Cianci A, Ieni A, Germanà A, Guerrera MC, Omero F, Speranza D, Cracò A, Asmundo A, Gualniera P, Mondello C
Int J Mol Sci 2024 Feb 20;25(5) doi: 10.3390/ijms25052467. PMID: 38473714Free PMC Article
Electroanatomic voltage mapping for tissue characterization beyond arrhythmia definition: A systematic review.
Zoppo F, Gagno G, Perazza L, Cocciolo A, Mugnai G, Vaccari D, Calzolari V
Pacing Clin Electrophysiol 2021 Aug;44(8):1432-1448. Epub 2021 Jun 23 doi: 10.1111/pace.14288. PMID: 34096635
Endo-epicardial ablation vs endocardial ablation for the management of ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy: A systematic review and meta-analysis.
Romero J, Patel K, Briceno D, Alviz I, Gabr M, Diaz JC, Trivedi C, Mohanty S, Della Rocca D, Al-Ahmad A, Yang R, Rios S, Cerna L, Du X, Tarantino N, Zhang XD, Lakkireddy D, Natale A, Di Biase L
J Cardiovasc Electrophysiol 2020 Aug;31(8):2022-2031. Epub 2020 Jun 18 doi: 10.1111/jce.14593. PMID: 32478430
The efficacy and safety of electroanatomic mapping-guided endomyocardial biopsy: a systematic review.
Vaidya VR, Abudan AA, Vasudevan K, Shantha G, Cooper LT, Kapa S, Noseworthy PA, Cha YM, Asirvatham SJ, Deshmukh AJ
J Interv Card Electrophysiol 2018 Oct;53(1):63-71. Epub 2018 Jul 12 doi: 10.1007/s10840-018-0410-7. PMID: 30003460
Utility of SAECG in arrhythmogenic right ventricle dysplasia.
Nasir K, Rutberg J, Tandri H, Berger R, Tomaselli G, Calkins H
Ann Noninvasive Electrocardiol 2003 Apr;8(2):112-20. doi: 10.1046/j.1542-474x.2003.08204.x. PMID: 12848791Free PMC Article

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