Skip to main content
PMC home page
British Heart Journal logoLink to British Heart Journal
. 1993 Feb;69(2):142–150. doi: 10.1136/hrt.69.2.142

Dysplastic conditions of the right ventricular myocardium: Uhl's anomaly vs arrhythmogenic right ventricular dysplasia.

L M Gerlis 1, S C Schmidt-Ott 1, S Y Ho 1, R H Anderson 1
PMCID: PMC1024941  PMID: 8435240

Abstract

OBJECTIVE--Since 1905 there have been many reports of cases in which the right ventricle was deficient in myocardium. Several terms have been used to describe this condition. Of these, "Uhl's anomaly" and "arrhythmogenic right ventricular dysplasia" are most often used. Our study investigates the relation between these entities. METHOD--Five cases with a primary deficiency of the right ventricular musculature were examined. The findings were compared with those published reports to evaluate the similarities and differences between Uhl's anomaly and arrhythmogenic dysplasia. RESULTS--The five cases showed two patterns of myocardial deficiency in the right ventricle. On the one hand, the parietal wall was paper thin with complete absence of musculature and apposition of the endocardial and epicardial layers. On the other hand, patchy, localised fibrofatty tissue replacement was found within the parietal musculature. Evidence from our cases, combined with analysis of other publications, showed different modes and timing of clinical presentation of the patients with these two anatomical conditions, congestive heart failure or arrhythmia. CONCLUSIONS--The conditions variously described as Uhl's anomaly and arrhythmogenic dysplasia are separate and distinct morphological entities.

Full text

PDF
144

Images in this article

143Image
on p.143
144Image
on p.144
145Image
on p.145
145Image
on p.145
146Image
on p.146

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ARCILLA R. A., GASUL B. M. Congenital aplasia or marked hypoplasia of the myocardium of the right ventricle (Uhl's anomaly). Clinical, angiocardiographic, and hemodynamic findings. J Pediatr. 1961 Mar;58:381–388. doi: 10.1016/s0022-3476(61)80269-2. [DOI] [PubMed] [Google Scholar]
  2. Abe T., Kuribayashi R., Sato M., Nieda S., Abe S. Congenital hypoplasia of the right ventricular myocardium (Uhl's anomaly). A case report and review of the literature. J Cardiovasc Surg (Torino) 1973 Jul-Aug;14(4):431–438. [PubMed] [Google Scholar]
  3. Aherne W. A. Uhl's anomaly. Arch Dis Child. 1973 Feb;48(2):160–160. doi: 10.1136/adc.48.2.160-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Alcasena M. S., González Maqueda I., Sotillo Martí J., Calvo Orbe L., Gamallo C., Martín Jadraque L. Displasia arritmogénica de ventrículo derecho y trisomía X. Presentación de un caso. Rev Esp Cardiol. 1985 Sep-Oct;38(5):357–360. [PubMed] [Google Scholar]
  5. Ando H., Yamamoto T., Tanimoto M., Ogami T., Yorifuji S. Echocardiographic features of Uhl's anomaly. A case report. Jpn Circ J. 1979 Dec;43(12):1121–1126. doi: 10.1253/jcj.43.1121. [DOI] [PubMed] [Google Scholar]
  6. Auzépy P., Papa F., Paillas J., Manigand G., Deparis M. Ventricule droit papyracé de l'adulte A propos d'un cas anatomo-clinique observé chez un homme atteint de dysplasie spondylo-épiphysaire. Arch Mal Coeur Vaiss. 1975 Jun;68(6):657–661. [PubMed] [Google Scholar]
  7. B-Lundqvist C., Eneström S., Edvardsson N., Olsson S. B. Arrhythmogenic right ventricular dysplasia presenting with ventricular tachycardia in a father and son. Clin Cardiol. 1987 Apr;10(4):277–283. doi: 10.1002/clc.4960100415. [DOI] [PubMed] [Google Scholar]
  8. Bens J. L., Quiret J. C., Duboisset M., Lesbre J. P., Bernasconi J. Ventricule droit papyracé: cause exceptionnelle d'adiastolie de l'adulte. A propos d'un cas. Lille Med. 1973 Feb;18(2):157–163. [PubMed] [Google Scholar]
  9. Bevilacqua G., Giusti C., Bargagna M. UHL's anomaly in young adult. Clinico-pathological data and review of the literature. Pathologica. 1980 May-Jun;72(1019):413–420. [PubMed] [Google Scholar]
  10. Bex J. P., Laborde F., Lecompte Y., Baillot F. U., Vernant P., Merrad K., Boussa L., Hazan E. Traitement chirurgical à coeur ouvert du ventricule droit papyracé. Principe et résultats à propos de deux cas opérés avec succès. Ann Chir. 1980 Oct;34(8):589–591. [PubMed] [Google Scholar]
  11. Bharati S., Ciraulo D. A., Bilitch M., Rosen K. M., Lev M. Inexcitable right ventricle and bilateral bundle branch block in Uhl's disease. Circulation. 1978 Mar;57(3):636–644. doi: 10.1161/01.cir.57.3.636. [DOI] [PubMed] [Google Scholar]
  12. Buonanno C., Nidasio G., Mancuso M., Salazzari G. C., Dander B., Poppi A. Ipoplasia del miocardio ventricolare destro (anomalia di Uhl) nell'adulto. G Ital Cardiol. 1974;4(2):200–210. [PubMed] [Google Scholar]
  13. CARPENTER H. M. Myocardial fat infiltration. Am Heart J. 1962 Apr;63:491–496. doi: 10.1016/0002-8703(62)90305-8. [DOI] [PubMed] [Google Scholar]
  14. CASE RECORDS of the Massachusetts General Hospital; weekly clinicopathological exercises; Case 40411. N Engl J Med. 1954 Oct 14;251(16):660–664. doi: 10.1056/NEJM195410142511608. [DOI] [PubMed] [Google Scholar]
  15. Castelli C., Aiazzi L., Caprioli G., Michelucci A., Arcangeli C., Dabizzi R. P. Su di un caso di anomalia di UHL. Boll Soc Ital Cardiol. 1977;22(4):417–424. [PubMed] [Google Scholar]
  16. Child J. S., Perloff J. K., Francoz R., Yeatman L. A., Henze E., Schelbert H. R., Laks H. Uhl's anomaly (parchment right ventricle): clinical, echocardiographic, radionuclear, hemodynamic and angiocardiographic features in 2 patients. Am J Cardiol. 1984 Feb 1;53(4):635–637. doi: 10.1016/0002-9149(84)90048-1. [DOI] [PubMed] [Google Scholar]
  17. Corrado D., Thiene G., Nava A., Rossi L., Pennelli N. Sudden death in young competitive athletes: clinicopathologic correlations in 22 cases. Am J Med. 1990 Nov;89(5):588–596. doi: 10.1016/0002-9343(90)90176-e. [DOI] [PubMed] [Google Scholar]
  18. Cumming G. R., Bowman J. M., Whytehead L. Congenital aplasia of the myocardium of the right ventricle (Uhl's anomaly). Am Heart J. 1965 Nov;70(5):671–676. doi: 10.1016/0002-8703(65)90396-0. [DOI] [PubMed] [Google Scholar]
  19. Côté M., Davignon A., Fouron J. C. Congenital hypoplasia of right ventricular myocardium (Uhl's anomaly) associated with pulmonary atresia in a newborn. Am J Cardiol. 1973 May;31(5):658–661. doi: 10.1016/0002-9149(73)90339-1. [DOI] [PubMed] [Google Scholar]
  20. Dalla Volta S. Arrhythmogenic cardiomyopathy of the right ventricle: thoughts on aetiology. Eur Heart J. 1989 Sep;10 (Suppl 500):2–6. doi: 10.1093/eurheartj/10.suppl_d.2. [DOI] [PubMed] [Google Scholar]
  21. Descalzo A., Cañadas M., Cintado C., Castillo J. A., Garcia E., Ariza S. Uhl's anomaly associated with pulmonary atresia. Hum Pathol. 1980 Sep;11(5 Suppl):575–576. [PubMed] [Google Scholar]
  22. Desser K. B., Promisloff S. D., Yellen L. G., Benchimol A. Stress electrocardiography in Uhl's anomaly with mitral valve prolapse. Chest. 1976 Oct;70(4):529–531. doi: 10.1378/chest.70.4.529. [DOI] [PubMed] [Google Scholar]
  23. Diggelmann U., Baur H. R. Familial Uhl's anomaly in the adult. Am J Cardiol. 1984 May 1;53(9):1402–1403. doi: 10.1016/0002-9149(84)90102-4. [DOI] [PubMed] [Google Scholar]
  24. Drory Y., Deutsch V., Shem-Tov A., Feldman S., Kariv I. L'ipoplasia del miocardio ventricolare destro (malattia di Uhl). Caso clinico e rivisione della letteratura. G Ital Cardiol. 1977;7(1):89–94. [PubMed] [Google Scholar]
  25. Esposito L., Nobili B. Considerazioni su un caso di progeria associato a sindrome di Uhl. Pediatria (Napoli) 1975 Jun 30;83(2):326–345. [PubMed] [Google Scholar]
  26. Fischer D. R., Zuberbuhler J. R. Familial Uhl's anomaly. Am J Cardiol. 1984 Oct 1;54(7):940–940. doi: 10.1016/s0002-9149(84)80265-9. [DOI] [PubMed] [Google Scholar]
  27. Fitchett D. H., Sugrue D. D., MacArthur C. G., Oakley C. M. Right ventricular dilated cardiomyopathy. Br Heart J. 1984 Jan;51(1):25–29. doi: 10.1136/hrt.51.1.25. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Forssman O., Björkman G. Absence of the solid part of the right ventricular musculature. Acta Pathol Microbiol Scand A. 1972;80(2):263–266. doi: 10.1111/j.1699-0463.1972.tb02175.x. [DOI] [PubMed] [Google Scholar]
  29. French J. W., Baum D., Popp R. L. Echocardiographic findings in Uhl's anomaly. Demonstration of diastolic pulmonary valve opening. Am J Cardiol. 1975 Sep;36(3):349–353. doi: 10.1016/0002-9149(75)90488-9. [DOI] [PubMed] [Google Scholar]
  30. Froment R., Perrin A., Loire R., Dalloz C. Ventricule droit papyracé du jeune adulte par dystrophie congénitale. A propos de 2 cas anatomo-cliniques et de 3 cas cliniques. Arch Mal Coeur Vaiss. 1968 Apr;61(4):477–503. [PubMed] [Google Scholar]
  31. Fuertes J., Salazar J., Mengual J., Carbone A., Lafarga M., Garcia M., Felipe J., Ferre A. Anomalie d'Uhl associée à une atrésie de la valvule pulmonaire. Pediatrie. 1984 Apr-May;39(3):213–217. [PubMed] [Google Scholar]
  32. Furlanello F., Bettini R., Bertoldi A., Vergara G., Visonà L., Durante G. B., Inama G., Frisanco L., Antolini R., Zanuttini D. Arrhythmia patterns in athletes with arrhythmogenic right ventricular dysplasia. Eur Heart J. 1989 Sep;10 (Suppl 500):16–19. doi: 10.1093/eurheartj/10.suppl_d.16. [DOI] [PubMed] [Google Scholar]
  33. Galal O., Hentrich F., Przybilla C., Donhuijsen K. Aortenatresie und Pulmonalarterienhypoplasie bei kongenital korrigierter Transposition der grossen Gefässe, Aortenisthmusstenose und Uhl'scher Anomalie des linksseitigen Ventrikels. Pathologe. 1987 May;8(3):168–171. [PubMed] [Google Scholar]
  34. Guiraudon G. M., Klein G. J., Gulamhusein S. S., Painvin G. A., Del Campo C., Gonzales J. C., Ko P. T. Total disconnection of the right ventricular free wall: surgical treatment of right ventricular tachycardia associated with right ventricular dysplasia. Circulation. 1983 Feb;67(2):463–470. doi: 10.1161/01.cir.67.2.463. [DOI] [PubMed] [Google Scholar]
  35. Haworth S. G., Shinebourne E. A., Miller G. A. Right-to-left interatrial shunting with normal right ventricular pressure. A puzzling haemodynamic picture associated with some rare congenital malformations of the right ventricle and tricuspid valve. Br Heart J. 1975 Apr;37(4):386–391. doi: 10.1136/hrt.37.4.386. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Hoback J., Adicoff A., From A. H., Smith M., Shafer R., Chesler E. A report of Uhl's disease in identical adult twins: evaluation of right ventricular dysfunction with echocardiography and nuclear angiography. Chest. 1981 Mar;79(3):306–310. doi: 10.1378/chest.79.3.306. [DOI] [PubMed] [Google Scholar]
  37. Ibsen H. H., Baandrup U., Simonsen E. E. Familial right ventricular dilated cardiomyopathy. Br Heart J. 1985 Aug;54(2):156–159. doi: 10.1136/hrt.54.2.156. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. Kaul U., Arora R., Rani S. Uhl's anomaly with rudimentary pulmonary valve leaflets: a clinical, hemodynamic, angiographic, and pathologic study. Am Heart J. 1980 Nov;100(5):673–677. doi: 10.1016/0002-8703(80)90234-3. [DOI] [PubMed] [Google Scholar]
  39. Kawamura O., Ohaki Y., Nakatani Y., Misugi K., Yoshimura H., Kobayashi H., Haraguchi S., Niimura I. Idiopathic right ventricular dilation. Special reference to "arrhythmogenic right ventricular dysplasia" and analogous lesions. Acta Pathol Jpn. 1986 Nov;36(11):1693–1705. [PubMed] [Google Scholar]
  40. Kinare S. G., Panday S. R., Deshmukh S. M. Congenital aplasia of the right ventricular myocardium (Uhl's anomaly). Dis Chest. 1969 May;55(5):429–431. doi: 10.1378/chest.55.5.429. [DOI] [PubMed] [Google Scholar]
  41. Laurenceau J. L., Liehnart J. F., Malergue M. C., Gilbert M., Dumesnil J. G. Données échocardiographiques dans le syndrome du ventricule droit papyracé. Arch Mal Coeur Vaiss. 1979 Mar;72(3):258–262. [PubMed] [Google Scholar]
  42. Laurent M., Descaves C., Biron Y., Deplace C., Almange C., Daubert J. C. Familial form of arrhythmogenic right ventricular dysplasia. Am Heart J. 1987 Mar;113(3):827–829. doi: 10.1016/0002-8703(87)90728-9. [DOI] [PubMed] [Google Scholar]
  43. Letac B., Tayot J., Barthes P. Infiltration graisseuse du coeur et maladie de Uhl. A propos d'une observatione de lipomatose cardiaque. Arch Mal Coeur Vaiss. 1977 Jan;70(1):107–113. [PubMed] [Google Scholar]
  44. Matsumoto Y., Yano K., Aoi W., Oku Y., Hashiba K. Echocardiographic evaluation of pulmonary flow pattern in Uhl's anomaly. Am Heart J. 1986 Feb;111(2):420–422. doi: 10.1016/0002-8703(86)90166-3. [DOI] [PubMed] [Google Scholar]
  45. Moene R. J., Sobotka M. A., Buis B., Bots G. T., Elzenga N. J. Unclassified familial cardiomyopathy with ventricular dysrhythmia. Pediatr Cardiol. 1987;8(3):177–180. doi: 10.1007/BF02263449. [DOI] [PubMed] [Google Scholar]
  46. Morand P., Lanfranchi J., Brehier J., Laine J. L., Langevin J., Raynaud R. Le syndrome de Uhl. Ventricule droit papyracé. A propos d'une observation clinique avec contrôle hémodynamique angiographique et isotopique. Sem Hop. 1972 Feb 14;48(8):571–580. [PubMed] [Google Scholar]
  47. NEIMANN N., PERNOT C., RAUBER G. APLASIE DU MYOCARDE DU VENTRICULE DROIT (VENTRICULE DROIT PAPYRAC'E CONG'ENITAL) Arch Mal Coeur Vaiss. 1965 Mar;58:421–430. [PubMed] [Google Scholar]
  48. Nakanishi T., Shiroyama T., Inoue D., Uno M., Kitamura K., Kooda M., Nakagawa H., Higami M., Yoshiga M., Sugihara H. [A family study of the two cases with arrhythmogenic right ventricular dysplasia with reference to genetic aspects]. Kokyu To Junkan. 1986 Sep;34(9):1009–1014. [PubMed] [Google Scholar]
  49. Nava A., Scognamiglio R., Thiene G., Canciani B., Daliento L., Buja G., Stritoni P., Fasoli G., Dalla Volta S. A polymorphic form of familial arrhythmogenic right ventricular dysplasia. Am J Cardiol. 1987 Jun 1;59(15):1405–1409. doi: 10.1016/0002-9149(87)90929-5. [DOI] [PubMed] [Google Scholar]
  50. Nava A., Thiene G., Canciani B., Martini B., Daliento L., Buja G., Fasoli G. Clinical profile of concealed form of arrhythmogenic right ventricular cardiomyopathy presenting with apparently idiopathic ventricular arrhythmias. Int J Cardiol. 1992 May;35(2):195–209. doi: 10.1016/0167-5273(92)90177-5. [DOI] [PubMed] [Google Scholar]
  51. Nava A., Thiene G., Canciani B., Scognamiglio R., Daliento L., Buja G., Martini B., Stritoni P., Fasoli G. Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol. 1988 Nov;12(5):1222–1228. doi: 10.1016/0735-1097(88)92603-4. [DOI] [PubMed] [Google Scholar]
  52. Obma R., Perry L. W., Scott L. P. Uhl's anomaly of the heart with atrial septal defect and valvular pulmonary stenosis. Med Ann Dist Columbia. 1974 Aug;43(8):413–418. [PubMed] [Google Scholar]
  53. Ostermeyer J. Uhl's disease: partial parchment right ventricle. Virchows Arch A Pathol Anat Histol. 1974;362(3):185–194. doi: 10.1007/BF00432193. [DOI] [PubMed] [Google Scholar]
  54. PERRIN E. V., MEHRIZI A. ISOLATED FREE-WALL HYPOPLASIA OF HE RIGHT VENTRICLE. Am J Dis Child. 1965 Jun;109:558–566. doi: 10.1001/archpedi.1965.02090020560011. [DOI] [PubMed] [Google Scholar]
  55. Pérez Díaz L., Quero Jiménez M., Moreno Granados F., Pérez Martínez V., Merino Batres G. Congenital absence of myocardium of right ventricle: Uhl's anomaly. Br Heart J. 1973 May;35(5):570–572. doi: 10.1136/hrt.35.5.570. [DOI] [PMC free article] [PubMed] [Google Scholar]
  56. REEVE R., MACDONALD D. PARTIAL ABSENCE OF THE RIGHT VENTRICULAR MUSCULATURE--PARTIAL PARCHMENT HEART. Am J Cardiol. 1964 Sep;14:415–419. doi: 10.1016/0002-9149(64)90087-6. [DOI] [PubMed] [Google Scholar]
  57. Rakovec P., Rossi L., Fontaine G., Sasel B., Markez J., Voncina D. Familial arrhythmogenic right ventricular disease. Am J Cardiol. 1986 Aug 1;58(3):377–378. doi: 10.1016/0002-9149(86)90089-5. [DOI] [PubMed] [Google Scholar]
  58. Ruder M. A., Winston S. A., Davis J. C., Abbott J. A., Eldar M., Scheinman M. M. Arrhythmogenic right ventricular dysplasia in a family. Am J Cardiol. 1985 Nov 1;56(12):799–800. doi: 10.1016/0002-9149(85)91144-0. [DOI] [PubMed] [Google Scholar]
  59. SEGALL H. N. Parchment heart (Osler). Am Heart J. 1950 Dec;40(6):948–950. doi: 10.1016/0002-8703(50)90192-x. [DOI] [PubMed] [Google Scholar]
  60. Sabel K. G., Blomström-Lundqvist C., Olsson S. B., Eneström S. Arrhythmogenic right ventricular dysplasia in brother and sister: is it related to myocarditis? Pediatr Cardiol. 1990 Apr;11(2):113–116. doi: 10.1007/BF02239576. [DOI] [PubMed] [Google Scholar]
  61. Santoli C., Palminiello A., Panzeri E., Binda G., Soresi V. L'anomalia di Uhl. Mal Cardiovasc. 1968;9(1):121–134. [PubMed] [Google Scholar]
  62. Smeeton W. M., Smith W. M. Sudden death due to a cardiomyopathy predominantly affecting the right ventricle--right ventricular dysplasia. Med Sci Law. 1987 Jul;27(3):207–212. doi: 10.1177/002580248702700313. [DOI] [PubMed] [Google Scholar]
  63. Sugiura M., Hayashi T., Ueno K. Partial absence of the right ventricular muscle in an aged. Jpn Heart J. 1970 Nov;11(6):582–585. doi: 10.1536/ihj.11.582. [DOI] [PubMed] [Google Scholar]
  64. Tatibouet L., Kervarec A., Balouet G. Oreillette droite et ventricule droit papyracés. A propos d'un cas anatomo-clinique. Sem Hop. 1977 Oct 9;53(34-35):1883–1888. [PubMed] [Google Scholar]
  65. Thiene G., Nava A., Corrado D., Rossi L., Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988 Jan 21;318(3):129–133. doi: 10.1056/NEJM198801213180301. [DOI] [PubMed] [Google Scholar]
  66. UHL H. S. M. A previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle. Bull Johns Hopkins Hosp. 1952 Sep;91(3):197–209. [PubMed] [Google Scholar]
  67. Vecht R. J., Carmichael D. J., Gopal R., Philip G. Uhl's anomaly. Br Heart J. 1979 Jun;41(6):676–682. doi: 10.1136/hrt.41.6.676. [DOI] [PMC free article] [PubMed] [Google Scholar]
  68. Vedel J., Frank R., Fontaine G., Drobinski G., Guiraudon G., Brocheriou C., Grosgogeat Y. Tachycardies ventriculaires récidivantes et ventricule droit papyracé de l'adulte. A propos de 2 observations anatomo-cliniques. Arch Mal Coeur Vaiss. 1978 Sep;71(9):973–981. [PubMed] [Google Scholar]
  69. Vernant P., Hazan E., Ducam H., Gaudeau S., de Langenhagen B., Nitenberg A., Geschwind H. Ventricule droit papyracé. Tentative de traitement chirurgical. Ann Med Interne (Paris) 1972 Oct;123(10):805–816. [PubMed] [Google Scholar]
  70. WEEKLY clinicopathological exercise: cardiac dilatation of right heart, extreme, congenital. N Engl J Med. 1952 May 15;246(20):785–790. doi: 10.1056/NEJM195205152462007. [DOI] [PubMed] [Google Scholar]
  71. Wager G. P., Couser R. J., Edwards O. P., Gmach C., Bessinger B., Jr Antenatal ultrasound findings in a case of Uhl's anomaly. Am J Perinatol. 1988 Apr;5(2):164–167. doi: 10.1055/s-2007-999678. [DOI] [PubMed] [Google Scholar]
  72. Wagner W. L., Gerckens U., Grube E. Zyanotische Patientin mit rechtsventrikulärer Dilatation und ventrikulären Herzrhythmusstörungen. Z Kardiol. 1987 May;76(5):303–308. [PubMed] [Google Scholar]
  73. Yutani C., Imakita M., Ishibashi-Ueda H., Nagata S., Sakakibara H., Nimura Y. Uhl's anomaly as a result of progression to ventricular dilation from hypertrophic cardiomyopathy. Acta Pathol Jpn. 1987 Sep;37(9):1477–1488. doi: 10.1111/j.1440-1827.1987.tb02269.x. [DOI] [PubMed] [Google Scholar]
  74. Zuberbuhler J. R., Blank E. Hypoplasia of right ventricular myocardium (Uhl's disease). Am J Roentgenol Radium Ther Nucl Med. 1970 Nov;110(3):491–496. doi: 10.2214/ajr.110.3.491. [DOI] [PubMed] [Google Scholar]

Articles from British Heart Journal are provided here courtesy of BMJ Publishing Group

RESOURCES