Isolated Hypoplasia of the right ventricle is a rare congenital cardiac anomaly which has been infrequently reported in the literature. Less than fifteen cases have so far been recorded. A description of the clinical, hemodynamic and angiographic findings in two cases is presented. Both the cases reported here presented with a clinical picture of tricuspid atresia. In both cases the correct diagnosis was suspected during cardiac catheterization from the characteristics of the pressure tracings. The angiocardiographical appearances in both cases excluded malposition of the tricuspid valve; the size of the cavity of the right ventricle was compatible with hypoplasia of the muscle wall rather than the total aplasia first described by UhI.peer-reviewe

Vassallo Agius, Paul

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36 HARVEY, M.B., DO:-lALD, K.W., ] ULIA:-I , D.G., and OL1VER, M.F. (1967) Lancet., 2, 109· Low:-I, B., FAKHRO, A.M., HOOD, \Y.B., and THoRx, G.\\'. (1967). ] .A.M.A., 199, 188. MATHER, M.G. (1970). Brit. med. ]., 2, 231. NcNE1LLY, R.H. and PEMBERTOX, ]. (1963). Brit. med. ]., 2, 139. McN1COL, M.\\'. (1966). Pracbt:oner, 196, 209. NACHLAS, M.M. and MILLER, D.L (I965). Am. Heart ]., 69, 448. NORR1S, R.M., BE:-ISLEY, K.E., CAUGHEY, D.E. and SCOTT, P.]. (1968). Brit. med. ]., 2, 143. PA:-;TRlDGE, ].F. (1970). Chest, 58, 229. RESTIEAUX, N., BRAY, C.,BuLLARD, H., MURRAY, M., ROB1XSO:-l, ]., BRIGDE:-I, \\'. and McDo:-;ALD, L. (1967). Lancet, I, 1285. STOCK, E., GOBLE, A. and SLOMA:-I, G. (J967). Bd. med. ]. 2, 719. SPIEKERMA:-;, R.E., BRA:-;DENBURG, ] .T., ARCHER, R.W.P. and EDwARDs, ].E. (1962). Circulation, 25, 57· STEMMLER, E.]. (1965). Ann. intern. Med., 63, 613. WEAVER, ].A., BHATIA, S.K., BOYLE, D., HADDEN, D.R., and MO:-;TGOMERY, D.A.D. (1970). Lancet, I, 783. W.H.O. (1969). Executive Board, Bulletin Interna-t:onal Society of Cardiology, No. II9, p. 1. ZAMMIT MAEMPEL, ].V. (1965). Lancet, 2, II57. ISOLATED RIGHT VENTRICULAR HYPOPLASIA WITH ATRIAL SEPTAL DEFECT P. V ASSALLO AGIUS * M.D., D.C.H., M.R.C.P. Registrar to the Pediatric Unit, Brompton Hospital. Isolated Hypoplasia of the right ven-tricle is a rare congenital cardiac ano-maly whioh has been infrequently report-ed in the literature. Less than fifteen cases have so far been recorded. We describe here the clinical, haemodynamic and an-giogmphic findings in two cases, and briefly review the literature. Case Reports Case 1 J.F. was the second child of healthy parents; she was a fuB term normal hos-pital de'livery, following a normal preg-nancy. There was no difficulty in onset of respiration. B.W. 5 lb. 13 oz. She had two cyanotic attacks on the first day and was noted to be cyanosed on crying dur-ing the firSlt week of Hfe. On generalexa-mination she was a peculiar looking baby with a small head (circumference 12t"), * At present Lecturer, The Medical School, Royal University of Malta. receding brow, and long thin limbs with long fingers and toes. There were no heart murmurs and the peripheral pulses were normal. X-ray of the chest was normal and the ECG showed left vent-ricular hypefltrophy. After the first day she had no further cyanotic attacks. She subsequentLy thrived, but show-ed slight cyanosis at rest and a heart mur-mur was first noted at 10 months of age. She was referred to the Brompton Hospital and at 2 years of age was admit-ted for further investigation. Her general condition was good. There was probable cyanosis at rest, which became obvious on crying; there was no differential cya-nosis. The peripheral pulses were normal. The blood pressure was 80 mm Hg by palpation in upper limbs. The fingers and toes were clubbed. There was no chest bulge and no thri1!l. The hea.rt was quiet with a grade of 1-2/6 ejection murmur best heard at the second left intercostal space. The second sound was single. The lungs were clear on auscultation and the liver was not palpable. Table 1. Haemodynamic data of Case 1 and Case 2 CASE 1 CASE 2 Pressure 02 S.tn. Pressure _.Kg. ~ _.Kg. ~ixed Venous - 58 Right Atriu. a=3 v=5 58 a=7 x=:4 v=5 y=4 Jilel1n=5 Right Ventricle 11/0-5 56 13/2-6 presystolic wavec6 pre.ystollc .ave=7 Pulmonary Artery 11/5 56 -rwedge Jlllellln=7 -Pulmonary Vein -96 -!Left Atrium .lMiU1=2 87 a=4 x=2 .,,=3 lill0an=3 !Left Ventricle 70/0-3 81~90 65/6-7 ~x1l1ary Artery 75/55 81 63/46 QP 2.4 L./ain./Sq.M. 1. 4!1 L. /min ./Sq .1L QS 3.3 L./e!n./Sq.M. 2.2 L./~in./8~.H. QP/QS 0.73 0.64 ~---.. -~---02 Satn. ~ 49 47 45 --98 -75-84 73-80 gO CJ,> -...1. 38 Investigation: Hb 14.6 g%, P.C.V. 53%. Chest X-ray showed slight to mode-rate cardiomegaly with some probable re-duction in lung vascularity. E.C.G. Axis + 100° and an adult R/S pattern, indica-tive of mild left ventricular hypertrophy. A clinical diagnosis of tricuspid atresia was made. Cardiac catheterization: (right axil-lary approach) was carried out under ge-neral anaesthesia, breathing 25% oxygen. Both right and left pulmonary arteries we,re entered. There was a presystolic wave in the R.V. pressure tracing equal to the right atrial 'a' wave and a narrow ejection peak of the right ventricular pres-sure curve. (Table 1) The presystolic wave was also seen in the pulmonary artery pressure curve. The left atrium was en-tered from the right atrium, and the left ventricle from the left atrium. Oxygen saturation data revealed systemic arterial desaturation (81%) and a right to left shunt at atrial level. Selective angiocardiography, with in-jection of 75% Triosil into ther'ight atrium showed opacification of both the left atrium and an anteriorly placed right ven-tricle from which arose a normally situ-ated pulmonary artery. The pulmonary valve was not well seen. (Fig. 1) Injection of contrast medium into the left ventricle showed no abnormality of this chamber or of the aorta, and no ventricular septal defect (Fig. 2). Case 2 P.M. The mother had taken Nit~aze­pam in the last 4 months of pregnancy, which had been otherwise normal. He was the second of diss'tmilar twins, deNvered by breech with forceps application to the after-coming head, at 39 weeks' gestation (pitocin drip for prolapse of cord). Birth weight 7 lb. His condition was poor at birth and he was placed in an incubator for three days. Cyanosis and a heart mur-mur were noted during the first few days. However, he subsequently thrived and de-velopment was normal. A brother aged 6 years, a sister aged 8 years, and another brother and sister both aged 9 years (twins), besides his twin brother are an normal. His parents are healthy. He was admitted to the Brompton Hospital for further assessment when aged 6 months. On examination he dooked well with height (64 cm) and weight 6.300 kg) both around the 10th percentile. He was mildly cyanosed at rest but there was no clubbing. His periphe:ral pulses were normal. There was no heart murmur and the second sound was single and of nor-mal intensity. The lungs were clear to auscu'ltation and the liver was not en-larged. There was no other abnormality on routine examination. Relevant investi-gations showed Hb 16.5g%, P.C.V. 54 %. Chest X-ray showed normal size heart with diminished pulmonary vasculature. E.C.G. showed an indeterminate axis with normal P waves; adult R/S pattern indi-cative of left ventricular hypertrophy. A clinical diagnosis of tricuspid 'atresia was made. A!t cardiac catheterization (Dr. G. A. B. Miller) the systemic saturation was 80%. The atrial septum was crossed by catheter and there was a :right to left shunt at atrial level. There was again a presystolic wave transmitted to the R.V. The pulmonary artery was not entered. (Table 1). Selective angiocardiography with in-jection of 75% Triosil into R.A. showed passage of contrast medium into a smooth-walled small anterior right ventricle, and thence into the pulmonary artery. The right outflow tract was not well seen. There was also some opacification of the left atrium. Injection of contrast medium into the left ventricle demonstrated no abnormality. Discussion Taussig (1936) drew attention to the association between defective develop-ment of the right ventride and anoma,lous tricuspid and pulmonary valves. However, isolated hypoplasia of the right ventricle in the absence of valve atresia is very rare. The condition may be associated with hypoplasia or stenosis of the tri:cus-pid valve, and an atrial septal defect or a patent foramen ovale is often present. Fig. 1 Case 1 Angiogram with injection of contrast medium in the right atrium. There is opacification of right and I,eft atrium, right ventricle, pulmonary artery and aorta. 39 40 Fig. 2 Case 1 Angiogram with injection of contrast medium in left ventricle. Nor-mal appearances. Cooley et al. (1950) diagnosed isolated hypoplasia of the right ventricle on angio-graphic appearances, which was confirm-ed at necropsy. Gasul et al. (1959) dia-gnosed a similar case at thoracotomy for a Glenn procedure on a child with sus-pected tricuspid stenosis. Medd et al. (1961) gave the detailed anatomical find-ings at necropsy in two siblings with iso-lated hypoplasia of the right ventricle and tricuspid valve. Sachner et al. (1961) des-cribed the clinical and haemodynamic fea-tures in three adults with this condition, all in the same pedigree,' and presenting with progressive right heart failure. They also gave the necropsy findings in a two month old 'infant. Fay and Lynn (1963) reported a six year old with hypoplastic right ventricle associated with atrial sep-tal defect and supravalvar pulmonary ar-tery stenosis; there was marked clinical improvement following anastomosis of the right pulmonary artery to the superior vena cava (Glenn procedure). Stoerner and Apitz (1965) gave the clinical, haemo-dynamic and angiographic findings in a 4 year old boy with this anomaly, a Blalock-Taussig anastomosis was performed but he died a few hours after operation. Raghib et al. (1965) reported a male infant with hypoplasia of the right ventricle and tricuspid valve, and Davachi et al. (1967) described this patient's sister who died with an identical malformation. Overy et al. (1966) recorded a case of anomalous systemic venous drainage with hypoplasia of the right ventricular myocardium and right to left shunt at atrial level. Aetiology The aetiology is obscure. A familial factor has been prominent in some report-ed cases (Sachner et aI., 1961; Medd et aI., 1961; Davachi et aI., 1967). Wood (1958) noted that congenital heart disease recur-ring in more than one member of a family is usually of the same type. The stblings and parents of the cases reported here have no clinical} evidence of congenital heart disease. A primary failure of deve-lopment of the muscle of the free wall of the right ventricle has been postulated (Medd et al., 1961). Overy et al. (1966) 41 suggested that deviation of blood from SVC which normally flows to the RV in foetal life (as in their case of anomalous systemic venous drainage to left atrium) might result in underdevelopment of the right ventricular myocardium. This is simi-lar to LV hypoplasia which occurs when premature narrowing or closure of the fora men ovale results in reduction of flow into the left ventricle (Lev et aI., 1963). The case reported by Cooley et al. (1950) was attributed to absence of the right coronary artery, though this was found to be normal in others. In UhI's case (Uhl, 1952) there was almost total absence of the mY0c:l.rdium from the right ventricu-lar wall, with marked dilation of the cham-ber, wh:ch contained a large ,laminated mural thrombus; microscopic examination of the right ventricular wall showed epi-cardium and endocardium adjacent to each other with no intervening cardiac muscle; the coronary arteries were normal. It is here suggested that the determing factor for deve!opment of the myocardium is the blood flow into the chamber during foetal life rather than the coronary artery supply. Clinical Features The clinical features resemble those of tricuspid atresia. Cyanosis is a constant feature and is often recorded as being pre-sent from birth. Heart murmurs are usual-ly absent in the straightforward case of hypoplasia of the right ventricle with a patent foramen ovale or ASD, and when present an associated anomaly such as pulmonary stenosis or frank tricuspid in-competence should be suspected. The E.c.G. typically shows left axis deviation but the axis was + 110° in one case of Medd et al. (1961). The praecotdiaI lead pattern is that of left ventricular domin-ance, and there is usually ,less positive deflection of the QRS complex over the right chest leads than one would expect. Indeed ,if in the presence of signs of pul-monary stenosis there is little or no evi-dence of RV activity in the ECG the dia-gnosis of hypoplasia of the right ventricle should be borne in mind. Bi-atrial or right atrial hypertrophy is a feature, and the 42 PR interval is usually prolonged due to right atrial dilatation. The chest X-ray shows a normal sized heart with under-filling of the lung fields. The presence of cardiomegaly, without other evidence of heart failure, would be in favour of a di'a-gnosis of Uhl's anomaly (Aplasia of the myocardium of the right ventricle) (Uhl, 1952). Catheterization and Angiocardiography At cardiac catheterization the passage of the catheter from RA to RV excludes tricuspid atresia. The tricuspid valve is normally situated. The pressure trace may be similar in pulmonary artery, right ven-tricle and right atrium, with a presystolic wave, possibly transmitted as fa·r as the pulmonary artery, and a narrow right ven-tricular ejection peak. A right to left shunt is demonstrable at atrial level. On angio-cardiography, injection of the contrast medium in the right ventricle shows this chamber to be normally situated but usually "Small and the pulmonary artery may be normal or hypoplastic. Injection of the contrast medium in the right atrium will demonstrate the right to left shunt at this level. The left ventricle is normal and the ventricular "Septum is intact. In Uhl's anomaly the right ventricular cavity is usually enormous, but it may be difficult to distinguish from hypoplasia of the right ventricle if a clot has formed in the right ventricle thus diminishing the size of this cavity. In Ebstein's malformation the RV wall is normal or thin but the ventri-cular cavity is diminished by a down-ward displacement of the tricuspid valve. Both the cases reported here present-ed with a clinical picture of tricuspid atresia. In both cases the correct diagno-sis was suspected during cardiac cathete--rization from the characteristics of the pressure tracings. The angiocardiographical appe~ran­ces in both cases excluded malposition of the tricuspid valve; the size of the cavity of the right ventricle was compatible with hypoplasia of the muscle wall rather than the total aplasia first described by UhI. Gasul et al. (1959) carried out suc-cessful palliative sur~ery in one case, who survived, anastomosing the superior vena cava to the right main pulmonary artery (Glenn operation). If there is a concomi-tant atrial septal defect, this should be closed at the same time (Gasul et al., 1966; Overy et al., 1966) but heart failure may supervene. On the whole, treatment of this anomaly has been disappointing. Ack.nowledgements I am grateful to Dr. T. P. Mann, who referred these cases for investigation; Dr. M. C. J oseph for encouragement and per-mission to publish and helpful criticism; and Dr. G. A. H. Miller for help with the haemodynamic data. References COOLEY, R.N. SLOAN, R.D., NANLON, C.R. and BANNSON, H.T. (1950) Radiology, 54, 848 . DAVACHI, F., McLEAN, R.H., MOLLER, T.H., and EDWARDS, J.E. Journal of Ped·at. 7I: 869, 1967. FAY, J.E. and LYNN, R.B Canada. M~d. Ass. J., (1963) 88; 812. GASUL, B.M., ARCILLA, R.A. and LEv, M. Heart D'sease in ChEdren. D:agnos's and Tl'eatment. (1966) p. 7°4· GASUL, B.M., \YEINBERG, M. Jr., LUAN, L.L., FELL, E.H., BrCOFF, J. and STInGER, Z. (1959) J.A.M.A. 17 I , 1797· LIlV, M., ARCILLA, R., RIMOLDI, H.J.A., LICATA, R.H. and GASUL, B.M. Am. Heart J. 65: 638, 1963. MrmD, \Y.E., NEUFIELD, H.N., \\'EIDMAN, \Y.H. ap.d EDWARDS, J.E. Br:t. Heart J. 23: 25. 1961. OVERY, H.R., STEINBICKER, P.G. and BLOUNT, S.G. Circu:ation. 33: 613, 1966 . PERRIN, E.V. and MEHRIZI, A. Am. J. Dis. Childr., 109: 558, 1965. RAGHIll, G., AMPLATZ, K., MOLLER, J.H., Jur" K.L. and EDWARDS, J .E. Am. Heart J. 70: 806, 1965. SACKNER, M.A., ROB1NSON, M.J., JAMISON, \\'.L. and LEWIS, D.H. C:rculation, 2';': 1388, 1961. STOERMER, J. and ApITz, J. Med. Kl'n. 60: 1777. 1965. TAUSSIG, lLB. Bu'!. Johns Hopkins Hosp., 59: 435, 1936. UHL, H.S.M. Bull. Johns Hopkins Hosp. 91: 197, 1952. 

Isolated right ventricular hypoplasia with atrial septal defect

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Isolated right ventricular hypoplasia with atrial septal defect

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