Uhl's anomaly - HeartBr Heart J: first published as 10.1136/hrt.41.6.676 on 1 June 1979. Downloaded...

British Heart_Journal, 1979, 41, 676-682

Uhl's anomalyR. J. VECHT, D. J. S. CARMICHAEL, R. GOPAL, AND G. PHILIP

From the Departments of Cardiology and Pathology, St Mary's Hospital, London

suMMARY Uhl's anomaly of the heart is a rare condition. Another well-documented case is presentedwith a review ofthe published reports outlining the main clinical features and the bad overall prognosis.Right atriotomy should be avoided if closure of the atrial septal defect is attempted.

In 1952, Uhl reported a previously undescribedcongenital malformation of the heart. This con-sisted of an almost total absence of the myocardiumof the right ventricle. In the same year, Castlemanand Towne (1952) described the case of a womanwith a paper-thin right ventricle the volume ofwhich was estimated to be 5 times that of the leftventricle.

In both instances, the predominant feature wasthe very thin-walled and enlarged right ventricle;this was unlike the case previously reported byOsler as 'parchment heart' in which both ventricleswere found to be extremely thin (Segall, 1950).Few additional cases have since come to light

(Taussig, 1960; Arcilla and Gasul, 1961; Reeve andMacdonald, 1964; Cumming et al., 1965; Neimannet al., 1965; Perrin and Mehrizi, 1965; Fromentet al., 1968; Kinare et al., 1969; Aherne, 1973;C6t6 et al., 1973; Perez Diaz et al., 1973; French

Received for publication 4 August 1978

et al., 1975; Haworth et al., 1975) and we wish topresent another patient with this rare condition.

Case report

A 19-year-old Maltese man was admitted for cardiacinvestigation. He was the youngest of a family of 9,all of whom were healthy. At the time of pregnancyhis mother was aged 40. Both pregnancy andparturition were uneventful. At 1 week he wascyanosed particularly on crying. At the age of 9years he was more cyanosed, clubbed, and of agracile build. The heart was 'quiet' to palpationand pulmonary closure was delayed. The haemo-globin was 15-4 g/dl. He grew to adult size, enjoyingnormal schooling and playing football until the ageof 15 years. From then onwards he complained ofdyspnoea and tiredness on exertion. He sufferedfrom occasional chest pains and lost consciousnessthree times during physical effort. His haemo-globin had risen to 17 5 g/dl and ectopic rhythm

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Fig. 1 Electrocardiogram showing right axis deviation, prominent P waves in leads I, 11,and V2 to V4, large negative P waves in VI, and Q waves in VI to V4.

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Fig. 2 Right-sided pressures showing the dominant a wave in the right atrium. This is transmitted tothe low right ventricle and pulmonary artery pressures.

activity was also noted. A chest x-ray film showedan enlarged heart and the clinical diagnosis ofEbstein's disease was made (see Fig. 3a).On admission, the jugular venous pressure was

raised with a dominant a wave. The cyanosis andclubbing were more evident and the haemoglobinwas 23 4 g/dl, with a packed cell volume of 73per cent.-- Electrocardiography (Fig. 1) showed right axisdeviation and Qr complexes in V2 to V4. Therewere tall P waves in leads I, II, and V2 to V4, anddeep inverted P waves in Vl of greater amplitudethan the ventricular complex. Echocardiographyshowed a dilated right ventricular cavity in com-

parison with the much smaller left ventricle. Thepulmonary valve was clearly seen to open duringdiastole.

Cardiac catheterisation disclosed arterial desatura-tion (73%) with right atrial, right ventricular, andpulmonary arterial saturations ranging between52 and 60 per cent. The pressures (Fig. 2) showedsimilar contours in the three right-sided areas. Thedominant right atrial a wave was transmitted intothe low pressure right ventricle and pulmonaryartery.

Endocardial potentials showed a normal transi-tion of ventricular to atrial complexes, thus ex-

cluding a displaced tricuspid valve. This was

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(a) (b)Fig. 3 (a) Plain chest x-ray film on the left. There is obvious cardiomegaly with pulmonary oligaemia.(b) On the right, contrast materialfilling the enlarged right atrium with normally placed tricuspid valve.

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R. J. Vecht, D. J. S. Carmichael, R. Gopal, and G. Philip

confirmed by angiography (Fig. 3b). Contrast wasseen to enter a conspicuously dilated right ventricleduring atrial contraction and to stagnate withinthe right ventricle which did not appear to contract.There was no visible contrast in the left atrium.As a result of these findings and the gradual

deterioration of the patient it was felt that surgicalclosure of the presumed patent foramen ovale oratrial septal defect was indicated.At operation a grossly dilated right ventricle was

found showing paradoxical pulsation. The right

atrium was relatively thick-walled and enlarged.Cardiopulmonary bypass with moderate hypo-thermia to 30°C was instituted and through aposteriorly placed right atriotomy a 3 x 2 cmsecundum atrial septal defect was closed with a con-tinuous suture. Rewarming and right atrial closurewere uneventful; total perfusion time was 40minutes with aortic cross-clamping time of 10minutes. Half an hour later, during closure of thechest wall, there was a sudden drop in arterialsystolic pressure from 110 to 50 mmHg, with a

Fig. 4 The heart has been cut transversely through both ventricles and the upperpart is seen from below. The left ventricle and part of the mitral valve are seen atthe upper right. The remainder of the picture is occupied by the thin-walled andenormously dilated right ventricle, the cavity of which is crossed by a moderatorband. The pulmonary outflow tract is seen in the centre left of the picture and thenormally placed tricuspid valve leaflets and papillary muscles at the lower right.

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Uhl's anomaly

change in rhythm to atrial fibrillation. Despiteseveral attempts at DC conversion, the arrhythmiapersisted and the left ventricle then fibrillated.Further resuscitative measures failed.

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The heart weighed 435 g. Its venous and arterialconnections were normal and the ductus arteriosusE , X . _ , .w<<z os, t s s Fv l - | . jC X . . . . . * _ - {-m-Qe J I s | 1X S FE .t.......sei . . | . ' ,_ts § § ..: a tr r > N N ! , ll E nPta v [Z ; i B I

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Fig. 5 A section of the free wall of the right ventricle showing (from left to right) pericardium andfatty epicardial tissue with areas of operative haemorrhage and several thick-walled blood vessels. Thisis in direct contact with the thickened endocardium with no intervening muscular layer. The musclebundles visible to the extreme right of the picture are hypertrophied endocardial smooth muscle and are notmyocardialfibres.

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R. J. Vecht, D. J. S. Carmichael, R. Gopal, and G. Philip

Fig. 6 A section through the tricuspid valve ring showingthegreatly hypertrophied right atrium (RA) above andthe thin right ventricular wall (RV) below. The tricuspidvalve (TV) is normally sited.

was closed. The right atrium was a large chamber(7 x 6 x 5 cm) with a hypertrophied and trabecu-lated wall which measured up to 5 mm in thickness.The tricuspid valve leaflets were normally positioned

and were inserted into a fibrous and muscular ring15 cm in circumference. Just below this, the rightventricle decreased abruptly in thickness and thegreater part of its free wall measured only 2 mm inthickness, though the areas adjacent to the inter-ventricular septum were thicker. The right ventri-cular cavity was enormously dilated (11 x 8 x 7 cm)and was lined by thickened endocardium (Fig. 4).Its cavity was crossed by a moderator band andseveral narrower bands of fibrous tissue, but nomural thrombus was present. The pulmonary valvewas normal. The chambers and valves of the leftside of the heart were normal and the coronaryarteries were normal in size and position, with theright coronary artery slightly smaller than the left.The sutures were all intact.Microscopy of the free wall of the right ventricle

showed cardiac muscle to be limited to small areasclose to the interventricular septum and the tri-cuspid valve. The thin membrane which surroundedthe greater part of the chamber contained nostriated muscle and from within outwards consistedof (i) endothelium, (ii) a thickened fibrous endo-cardium containing numerous bundles of hyper-trophied smooth muscle cells and an increase inelastic tissue, (iii) fatty epicardial tissue, and (iv)visceral pericardium (Fig. 5). The epicardial layercontained prominent thick-walled blood vessels.Sections from the right atrium showed hypertrophyof the myocardium (Fig. 6) but no alteration in theendocardium. Sections from the left heart showedno special features.The endocardial changes were of the type associa-

ted with long-standing cardiac dilatation (Fisherand Davies, 1958). The muscular thickening of theepicardial vessels can probably be attributed to thesame cause since similar vessels have been describedin the adventitial layer of thoracic aortic aneurysms(Pomerance et al., 1977).

Discussion

Uhl's anomaly is rarely encountered and shouldnot be confused with isolated right ventricularhypoplasia (Sackner et al., 1961; Van der Hauwaertand Michaelson, 1971; Haworth et al., 1975).Common to all cases of Uhl's anomaly describedis the extremely thin and enlarged right ventricularwall which contains little if any myocardium. Thisis in contrast with the small right ventricular cavityand normal wall thickness found in cases of rightventricular hypoplasia. From the Table reviewingthe published cases of Uhl's anomaly it can beseen that the sex incidence was equal and that agesat presentation ranged from 1 day to 57 years. Ofthe18 cases reviewed here cyanosis was noticeable in

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able Salient features in patients with Uhl's anomaly: review of published reports

sthor Year of Agel Presenting Other signs Age and cause Post RV RA LV Coronary ASD/ Surgerypublication sex features ofdeath mortem arteries FO

1952 7/12 Tachypnoea Cyanosis, 8/12F oedema, CCF

cardiomegaly1952 24y Dyspnoea, Raised JVP, 25y

F ectopic beats, oedema, CCFatrial flutter, cardiomegalyAV block,chest pain

1960 6y Dyspnoea, CCF, 6yM reduced cyanosis, postop

exercise cardiomegaly,tolerance 1° AV block

1961 5/12 Tachypnoea Cardiomegaly 12/12M CCF

1964 47y Dyspnoea, Cyanosis, 47yF SVT, cardiomegaly subarachnoid

chest pain haemorrhage1965 7/12 Dyspnoea Cyanosis, 7/12

F cardiomegaly postop1965 4d Tachypnoea Cyanosis, 5 d

F cardiomegaly, hypothermiahepatomegaly

1965 10/12 Oedema Cyanosis, 13/12M raised JVP, CCF

cardiomegaly1967 57y Chest pain Hepatomegaly, 66y

M no cardio- leukaemia,megaly renal failure

1968 19y Dyspnoea Cardiomegaly 19yM postop

,, 26y VTM

.inare et al. 1969

herne 1973

ote et al. 1973

erez Diaz et al. 1973

rench et al. 1975

Cardiomegaly 26yarrhythmia

5y Dyspnoea Cyanosis 5yF cardiomegaly postop7/52 Oedema CCF, 10/12F cardiomegaly CCF19h Tachypnoca Cyanosis, 2idF gallop, respiratory

cardiomegaly, distresshepatomegaly

4/12 Dyspnoea Cyanosis, 4/12M CCF, CCF

cardiomegaly14y Diminished Cyanosis, AliveF exercise cardiomegaly

tolerance,AV dissocia-tion, nodalrhythm

laworth et ai. 1975 Id Cyanosis, 4 daysM cardiomegaly, not known

hepatomegalylecht et al. present 19y Dyspnoea, Cyanosis, 19y

report M chest pain, cardiomegaly postopectopics

Yes Thin, Large N Nlargethrombus

Yes Thin, Large N Nlarge Thinthrombus

Yes Normal Large N Nsize

Yes Large Large Large ?paper-thin

Yes Large Large N N

Yes Large

Yes Largethin

Large N N

Large LVH N

Yes Large Large N Npaper-thin Thin

Yes Large N LVH Npaper-thin

Yes Large Large N Nthin 2 cuspsthrombus

Yes Large Large ? ?thin 2 cuspsthrombus

Yes Large Large N Npaper-thin

Yes Large Large N Nthin

Yes Large Large N Nthin thin

Yes Largethin

Large N N

- Large Large Large ?

Yes Largethin

Large ? ?

Yes Large Large N Npaper-thin

None None

None None

ASD Pott's,later closed

FO None

FO None

FO Glenn

ASD None

None None

None None

None Exploratory

? None

None Exploratory

None None

ASD None

None None

ASD ASD closed

FO None

ASD ASD closed

{V, right ventricle; RA, right atrium; LV, left ventricle; ASD, atrial septal defect; FO, foramen ovale; CCF, congestive cardiac failure; N, normal; JVP,ugular venous pressure; SVT, supraventricular tachycardia; LVH, left ventricular hypertrophy; VT, ventricular tachycardia.

12 cases. Four patients had patent foramen ovales murmurs were frequently audible. Seventeen of theand 5 others had atrial septal defects. In some cases patients succumbed and only 1 survived operationcyanosis was present without an obvious intra- (closure of atrial septal defect).cardiac shunt. Electrocardiography characteristically showed

Right ventricular thrombus was found in 4 cases large P waves in lead IIT with diminished rightand arrhythmias were described in 6 patients. Four ventricular potentials. Chest radiography invariablypatients complained of chest pain and effort syncope demonstrated an enlarged cardiac shadow. Specificwas encountered in 2 cases. Non-specific systolic echocardiographic features consisted of an enlarged

hil

istlemanand Towne

aussig

rcilla andGasuleeve andMacdonald

ummning et al.

eimann et al.

!rrin andMebrizi

ould et al.

roment et al.

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right ventricular cavity, delayed tricuspid valveclosure, and diastolic pulmonary valve opening,allowing differentiation from Ebstein's anomalywhich closely resembles this condition.

Additional defects have been described in associa-tion with Uhl's anomaly. They include dysplasia ofthe tricuspid valve, pulmonary atresia, and persis-tent ductus arteriosus (Neimann et al., 1965;Cote et al., 1973; Haworth et al., 1975). These raredefects were seen infrequently.The pulmonary circulation in Uhl's anomaly is

entirely maintained by right atrial contraction. Thisis recognisable at angiography and from the similarpressure contours seen in the right-sided chambers.The tricuspid valve is not displaced as in Ebstein'ssyndrome; the left ventricle and the left atrium areusually normal as are the coronary arteries. Fibro-elastosis was seen in a few cases. Surgical manage-ment has included Glenn and Potts procedureswith unacceptable results. It has been suggestedthat before operation right heart function should beassessed by temporary balloon occlusion of thedefect (Van der Hauwaert and Michaelson, 1971)though this is not always possible (Haworth et al.,1975) and was not attempted in our case. Closure ofan atrial septal defect may offer some benefit andwas performed in our case, though death ensuedafter the onset of atrial fibrillation. It is assumedthat this was related to the right atrial incisionand we suggest that the surgical approach might bevia a right ventricular incision with closure of theatrial septal defect through the tricuspid valve. Thusan atrial incision would be avoided.

We wish to thank Dr E. M. M. Besterman and MrL. L. Bromley for allowing us to study their patient.

References

Aherne, W. A. (1973). Uhl's anomaly (abstract). Archives ofDisease in Childhood, 48, 160.

Arcilla, R. A., and Gasul, B. M. (1961). Congenital aplasia ormarked hypoplasia of the myocardium of the right ventricle(Uhl's anomaly). Journal of Pediatrics, 58, 381-388.

Castleman, B., and Towne, V. W. (1952). Case record of theMassachusetts General Hospital No. 38201. New EnglandJ'ournal of Medicine, 246, 785-790.

Cote, M., Davignon, A., and Fouron, J. C. (1973). Congenitalhypoplasia of right ventricular myocardium (Uhl's anomaly)associated with pulmonary atresia in a newborn. AmericanJ7ournal ofCardiology, 31, 658-661.

Cumming, G. R., Bowman, J. M., and Whytehead, L. (1965).Congenital aplasia of the myocardium of the right ventricle(Uhl's anomaly). American Heart_Journal, 70, 671-676.

Fisher, E. R., and Davies, E. R. (1958). Observations con-cerning the pathogenesis of endocardial thickening.American HeartJournal, 56, 553-561.

French, J. W., Baum, D., and Popp, R. J. (1975). Echo-cardiographic findings in Uhl's anomaly. Demonstrationof diastolic pulmonary valve opening. American Journal ofCardiology, 36, 349-353.

Froment, R., Perrin, A., Loire, R., and Dalloz, C. J. (1968).Ventricule droit papyrac du jeune adulte par dystrophiecongenitale. Archives des Maladies du Coeur et des Vaisseaux,61,477-503.

Gould, L., Guttman, A. B., Carrasco, J., and Lyon, A. F.(1967). Partial absence of right ventricular musculature. Acongenital lesion. AmericanJournal of Medicine, 42, 636-641.

Haworth, S. G., Shinebourne, E. A., and Miller, G. A. H.(1975). Right to left interatrial shunting with normal rightventricular pressure. British Heart Journal, 37, 386-391.

Kinare, S. G., Panday, S. R., and Deshmukh, S. M. (1969).Congenital aplasia of the right ventricular myocardium(Uhl's anomaly). Diseases of the Chest, 55, 429-431.

Neimann, N., Pernot, C., and Rauber, G. (1965). Aplasie dumyocarde du ventricule droit (venrricule droit papyracecong6nitale). Archives des Maladies du Coeur et des Vaisseaux,58,421-430.

Perez Diaz, L., Quero Jimenez, M., Moreno Granados, F.,Perez Martinez, V., and MerinoBatres, G. (1973). Congenitalabsence of myocardium of right ventricle: Uhl's anomaly.British Heart Journal, 35, 570-572.

Perrin, E. V., and Mehrizi, A. (1965). Isolated free wallhypoplasia of the right ventricle. American J7ournal ofDiseases of Children, 109, 558-566.

Pomerance, A., Yacoub, M. H., and Gula, G. (1977). Thesurgical pathology of thoracic aortic aneurysms. Histo-pathology, 1, 257.

Reeve, R., and Macdonald, D. (1964). Partial absence of theright ventricular musculature-partial parchment heart.American Journal of Cardiology, 14, 415-419.

Sackner, M. A., Robinson, M. J., Jamison, W. L., andLewis, D. H. (1961). Isolated right ventricular hypoplasiawith atrial septal defect or patent foramen ovale. Circulation,24, 1388.

Segall, H. N. (1950). Parchment heart (Osler). AmericanHeartJournal, 40, 948-950.

Taussig, H. (1960). Congenital Malformation of the Heart:II, Specific Malformations, pp. 138-145. CommonwealthFund, Harvard University Press, Cambridge, Massachu-setts.

Uhl, H. S. M. (1952). Previously undescribed congenitalmalformation of the heart: almost total absence of themyocardium of the right ventricle. Bulletin of the J3ohnsHopkins Hospital, 91, 197-205.

Van der Hauwaert, L. G., and Michaelson, M. (1971).Isolatedrightventricularhypoplasia.Circulation,44,466-474.

Requests for reprints to Dr R. J. Vecht, CardiacDepartment, St Mary's Hospital, Praed Street,LondonW2 iNY.

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