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Uhl's Anomaly Br Heart J: first published as 10.1136/hrt.41.6.676 on 1 June 1979. Downloaded from British Heart_Journal, 1979, 41, 676-682 Uhl's anomaly R. 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 presented with 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 undescribed et al., 1975; Haworth et al., 1975) and we wish to congenital malformation of the heart. This con- present another patient with this rare condition. sisted of an almost total absence of the myocardium of the right ventricle. In the same year, Castleman Case report and Towne (1952) described the case of a woman with a paper-thin right ventricle the volume of A 19-year-old Maltese man was admitted for cardiac which was estimated to be 5 times that of the left investigation. He was the youngest of a family of 9, ventricle. all of whom were healthy. At the time of pregnancy In both instances, the predominant feature was his mother was aged 40. Both pregnancy and the very thin-walled and enlarged right ventricle; parturition were uneventful. At 1 week he was this was unlike the case previously reported by cyanosed particularly on crying. At the age of 9 Osler as 'parchment heart' in which both ventricles years he was more cyanosed, clubbed, and of a were found to be extremely thin (Segall, 1950). gracile build. The heart was 'quiet' to palpation Few additional cases have since come to light and pulmonary closure was delayed. The haemo- (Taussig, 1960; Arcilla and Gasul, 1961; Reeve and globin was 15-4 g/dl. He grew to adult size, enjoying http://heart.bmj.com/ Macdonald, 1964; Cumming et al., 1965; Neimann normal schooling and playing football until the age et al., 1965; Perrin and Mehrizi, 1965; Froment of 15 years. From then onwards he complained of et al., 1968; Kinare et al., 1969; Aherne, 1973; dyspnoea and tiredness on exertion. He suffered C6t6 et al., 1973; Perez Diaz et al., 1973; French from occasional chest pains and lost consciousness three times during physical effort. His haemo- Received for publication 4 August 1978 globin had risen to 17 5 g/dl and ectopic rhythm II11lilaVR aVL aVF on September 26, 2021 by guest. Protected copyright. vi V3 V4 V6 -= ;-.: Tt-fi-. .=; 1.,:i .., .fHIMIlmli -:M 1% 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. 676 Br Heart J: first published as 10.1136/hrt.41.6.676 on 1 June 1979. Downloaded from Uhl's anomaly 677 EG '4~~~~~~~~~~~~~~%.;,s o' o '' ..... I<^? RA a13 - RV 20112 PA 20112 14 vlO 20 50 r 50 "I Pl\ '1 \ %\/;48 1 r Nl--Vl IX * r# I r% 0 mmHg mmHg mmHg is is is is is Fig. 2 Right-sided pressures showing the dominant a wave in the right atrium. This is transmitted to the low right ventricle and pulmonary artery pressures. activity was also noted. A chest x-ray film showed parison with the much smaller left ventricle. The an enlarged heart and the clinical diagnosis of pulmonary valve was clearly seen to open during Ebstein's disease was made (see Fig. 3a). diastole. On admission, the jugular venous pressure was Cardiac catheterisation disclosed arterial desatura- raised with a dominant a wave. The cyanosis and tion (73%) with right atrial, right ventricular, and clubbing were more evident and the haemoglobin pulmonary arterial saturations ranging between was 23 4 g/dl, with a packed cell volume of 73 52 and 60 per cent. The pressures (Fig. 2) showed per cent. similar contours in the three right-sided areas. The -- Electrocardiography (Fig. 1) showed right axis dominant right atrial a wave was transmitted into deviation and Qr complexes in V2 to V4. There the low pressure right ventricle and pulmonary were tall P waves in leads I, II, and V2 to V4, and artery. http://heart.bmj.com/ deep inverted P waves in Vl of greater amplitude Endocardial potentials showed a normal transi- than the ventricular complex. Echocardiography tion of ventricular to atrial complexes, thus ex- showed a dilated right ventricular cavity in com- cluding a displaced tricuspid valve. This was on September 26, 2021 by guest. Protected copyright. ............ (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. Br Heart J: first published as 10.1136/hrt.41.6.676 on 1 June 1979. Downloaded from 678 R. J. Vecht, D. J. S. Carmichael, R. Gopal, and G. Philip confirmed by angiography (Fig. 3b). Contrast was atrium was relatively thick-walled and enlarged. seen to enter a conspicuously dilated right ventricle Cardiopulmonary bypass with moderate hypo- during atrial contraction and to stagnate within thermia to 30°C was instituted and through a the right ventricle which did not appear to contract. posteriorly placed right atriotomy a 3 x 2 cm There was no visible contrast in the left atrium. secundum atrial septal defect was closed with a con- As a result of these findings and the gradual tinuous suture. Rewarming and right atrial closure deterioration of the patient it was felt that surgical were uneventful; total perfusion time was 40 closure of the presumed patent foramen ovale or minutes with aortic cross-clamping time of 10 atrial septal defect was indicated. minutes. Half an hour later, during closure of the At operation a grossly dilated right ventricle was chest wall, there was a sudden drop in arterial found showing paradoxical pulsation. The right systolic pressure from 110 to 50 mmHg, with a http://heart.bmj.com/ on September 26, 2021 by guest. Protected copyright. Fig. 4 The heart has been cut transversely through both ventricles and the upper part is seen from below. The left ventricle and part of the mitral valve are seen at the upper right. The remainder of the picture is occupied by the thin-walled and enormously dilated right ventricle, the cavity of which is crossed by a moderator band. The pulmonary outflow tract is seen in the centre left of the picture and the normally placed tricuspid valve leaflets and papillary muscles at the lower right. Br Heart J: first published as 10.1136/hrt.41.6.676 on 1 June 1979. Downloaded from Uhl's anomaly 679 change in rhythm to atrial fibrillation. Despite NECROPSY FINDINGS several attempts at DC conversion, the arrhythmia persisted and the left ventricle then fibrillated. The heart weighed 435 g. Its venous and arterial Further resuscitative measures failed. connections were normal and the ductus arteriosus E-m-Qe,XJ I._s| 1X S FE,. .t....... w<<z_tCX..s § os,§ ts...*..: s Fv la t-_-{ | . j r r > N N ! ,ll E n Ptaseiv [Z . ;.i |B .I ', 2n\g x8 S | .f _.- f '^ AW - _ § X*it--i_*! a__P._sX xgX'..5w _l 1w LiF' w w s { t<tsXmw w^fi.'sM wX Xi[dX - , i wd.# w - f &X,} .} -l .. 8 A :A. :9: 4 N | , w a. W}^61E ....... .W wr .:. [[email protected];s & 6 li.&.^u w t.t..... } i *a >z{* tss=- _e ap$|6s .xeil ti 'S. j *- §X-s __ m__ m s * %, B st w i '_^..@ _' T .{J\4 .-E IF} I is}jgi }1|' i.$Yt.vu s .Fsw l Xr Eus... \ w ::*.. .. .. :.+, I.ti %: ..st § i .................................................... .S" ' i NtMU). http://heart.bmj.com/ ,,4,!t.>. \ f on September 26, 2021 by guest. Protected copyright. Fig. 5 A section of the free wall of the right ventricle showing (from left to right) pericardium and fatty epicardial tissue with areas of operative haemorrhage and several thick-walled blood vessels. This is in direct contact with the thickened endocardium with no intervening muscular layer. The muscle bundles visible to the extreme right of the picture are hypertrophied endocardial smooth muscle and are not myocardialfibres. Br Heart J: first published as 10.1136/hrt.41.6.676 on 1 June 1979. Downloaded from 680 R. J. Vecht, D. J. S. Carmichael, R. Gopal, and G. Philip and were inserted into a fibrous and muscular ring 15 cm in circumference. Just below this, the right ventricle decreased abruptly in thickness and the greater part of its free wall measured only 2 mm in thickness, 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 and several narrower bands of fibrous tissue, but no mural thrombus was present. The pulmonary valve was normal. The chambers and valves of the left side of the heart were normal and the coronary arteries were normal in size and position, with the right 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 areas close to the interventricular septum and the tri- cuspid valve. The thin membrane which surrounded the greater part of the chamber contained no striated muscle and from within outwards consisted of (i) endothelium, (ii) a thickened fibrous endo- cardium containing numerous bundles of hyper- trophied smooth muscle cells and an increase in elastic tissue, (iii) fatty epicardial tissue, and (iv) visceral pericardium (Fig.
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