Br Heart J: first published as 10.1136/hrt.37.8.840 on 1 August 1975. Downloaded from British Heart journal, I975, 37, 84o-852. Syndromes of asplenia and polysplenia A review of cardiac and non-cardiac malformations in 6o cases with special reference to diagnosis and prognosis' Vera Rose, T. Izukawa, and C. A. F. Moes From the Departments of Cardiology and Radiology and Research Institute of the Hospital for Sick Children, Toronto, Ontario, Canada This reviw presents the cardiac and non-cardiac malformations in 6o cases with asplenia and polysplenia with special reference to distinguishing factors which may be helpful in the clinical recognition of these syn- dromes. The asplenia cases were predominantly male andpresented with cyanosis. Theyfrequently had transposttion of the great arteries (72%) with pulmonary stenosis or atresia (88%) and total anomalous pulmonary venous drainage (72%). Deaths were caused by cardiacfailure and anoxia in 57per cent of cases. Most of thepatients died in thefirstyear oflife (79%), but longer survival ispossible in the asplenia syndrome. The polysplenia cases were predominantly female and survived longer. The characteristic clinicalfindings were the relatively more benign presenting signs and the leftward or superiorly orientated P wave axis on the electrocardiogram. Conotrumcal abnormalities were less comnon and total anomalous pulmonary venous http://heart.bmj.com/ drainage did not occur. On angiography the inferior vena caval drainage via the azygos system was clearly identified and this was present in all cases at surgery. Our study indicated that the cardiac anomalies in polysplenia were less severe than they were in asplenia and therefore the prognosis in the former syndrome is likely to be more favourable. Three families had two affected sibs but no single geneticfactor could be identified. The aetiology of these syndromes remains undeter- mined. on September 30, 2021 by guest. Protected copyright. The association of splenic anomalies with malposi- difficulties which may be encountered during cardiac tions and malformations of other organ systems, in catheterization procedures and to be able to predict particular, the cardiovascular system, have been the cardiac lesions which could be surgically re- well documented in the past 20 years (Polhemus and paired or palliated. Schafer, 1952, 1955; Ivemark, I955; Putschar and A review of the cases with splenic abnormalities Manion, I956; Ruttenberg et al., I964; Campbell from the necropsy series of the Cardiology Division, and Deuchar, I967; Moller et al., I967; Landing Hospital for Sick Children, Toronto, revealed 39 et al., 197I; Van Mierop, Gessner, and Schiebler, cases of asplenia and 13 cases of polysplenia. The I972; Freedom, I972). The complexityofthe cardiac heart was available for review in 32 cases of the malformation determines the clinical course and former and all of the latter. In addition, there are 6 prognosis and frequently precludes correction by surviving patients with asplenia syndrome and 2 surgical techniques. It is important, therefore, to with polysplenia in whom the splenic abnormalities recognize the patient who has the asplenia or poly- were suspected because of the presence of Howell- splenia syndrome, in order to anticipate potential Jolly bodies in the peripheral blood smear in the Received 20 December 1974. former and multiple spleens documented by radio- 2This work was supported by a grant from the Ontario Heart isotope spleen scan in the latter. It is suspected that Foundation, Toronto, Canada. more surviving cases with polysplenia may be Br Heart J: first published as 10.1136/hrt.37.8.840 on 1 August 1975. Downloaded from Syndromes of asplenia and polysplenia 84I presently unidentified since spleen scan has only TABLE 3 Associated non-cardiovascular malfor- recently been used for the identification of this con- mations in 52 necropsy cases dition. The necropsied group included cases in which the spleen was either entirely absent (cases of Abnormality Asplenia Polysplenia fimctional hyposplenia were excluded) or in which 39 cases I3 cases 4 to Io splenunculi were present (cases with one accessory spleen were not included). At necropsy, clinical and radiological findings Pulmonary Bilateral trilobed lungs 27 0 were reviewed, with particular reference to points Bilateral bilobed lungs 0 4 of difference between the two syndromes and their Bilobed (R) trilobed (L) I 2 clinical recognition. Lobation unknown I I 7 Gastrointestinal Heterotaxy I'5 Results Situs inversus 6 69% 6 54% Partial sitUs inversus 6 I Asplenia Normal visceral sitUs 12 6 Age at death and cause of death (Tables i and 2) Imperforate anus 2 The was in In this Annular pancreas I mortality high asplenia. necropsy Ectopic liver (in adrenal) I series 36 per cent of cases did not survive the first Hiatus hernia I week of life and 79 per cent were dead by the end of Absent gallbladder I the first year. Cardiac failure and anoxia were the predominant causes of death, followed by surgery. Genitourinary Infection was a relatively infrequent cause of death. Horseshoe kidney I Double collecting system I o5 Hydroureter 3 Cystic kidney I I \ o Pathological features: non-cardiac malfor- Absent right kidney and ureter - I mations (Table 3) The recognized tendency for bilateral symmetry of organs in asplenia syndrome Endocrine (Van Mierop et al., I972) was noted to be present. Fused or horseshoe adrenal 4 Absent L adrenal I Bicornuate uterus I Ovarian cysts I http://heart.bmj.com/ TABLE I Age at death CNS Age Asplenia Polyspknia Arteriovenous malformation of x No. % No. % midbrain Birth-i week I4 36 2 15 Musculoskeletal I-4 weeks 8 20 2 15 Scoliosis 2 1-3 months 6 I5 3 23 2 3-5 months 5 I 8 on September 30, 2021 by guest. Protected copyright. 6-i2 months I 3 0 0 There tended to be duplication of right-sided struc- Total under I year 3I 79 8 6i Total over I year 8 21 5 39 tures, with absence of those normally on the left. Other features, such as the symmetrical liver and abdominal heterotaxy, indicated a retention of the undifferentiated early embryonic state. Among the TABLE 2 Cause of death cases in which lung lobation was recorded 27 out of 28 had symmetrically trilobed lungs: I2 of these cases has visceral heterotaxy, 5 had abdominal situs Asplenia Polysplenia solitus, 4 had situs inversus, and 6 had partial situs Cardiac failure II I inversus. One case had thoracic situs inversus with Anoxia IO I partial abdominal situs inversus with the venae Complications of surgery 8 8 cavae as well as the pulmonary veins entering a Infection 4 I Haemorrhage 3 0 common atrium on the right side. The bronchial Sudden unexpected death 3 2 (late postoperative) anatomy could not be ascertained radiologically from the air bronchograms and was not recorded in the 39 I3 necropsy reports in this retrospective study. Abnormal visceral situs was present in 69 per Br Heart J: first published as 10.1136/hrt.37.8.840 on 1 August 1975. Downloaded from 842 Rose, Izukawa, and Moes cent of cases. Abdominal heterotaxy occurred in I5 ASPLENIA (32 PM.CASES) patients, situs inversus in 6, and partial situs in- POSITIONS OF APEX AND AORTIC ARCH versus in 6. Among the I2 cases with normal vis- ceral situs, 5 had bilateral trilobed lungs and in 7 others the lung lobation was not recorded in the necropsy report. There were 2 cases with imperfor- ate anus. Three others with asplenia had annular pancreas, ectopic liver, and hiatus hernia. Fifteen per cent of cases with asplenia had renal abnormalities which included horseshoe kidney, double collecting system, hydroureter, and cystic kidney. There were 4 instances of fused or horseshoe adrenal glands. Three patients had an unusual physical appearance, with webbing of the neck, and were thought to be a Tumer phenotype. Chromo- APEX Left-18(569b) Right-13(410/o) some studies were not done on these cases. Midline-I (3%) ARCH OF AORTA Left-18 (560o) Riqht-12(380/6) Cardiovascular abnormalities (Tables 4 and 5, U ncertain- 2 (6%) Fig. I) Positional abnormalities of the heart were frequent, I3 of 32 hearts (4I%) having the apex FIG. I. on the right. cava drained was the right atrium. There was no Venous system (Fig. 2) Bilateral superior venae instance in our series in which we were able to cavae were present in I7 of 32 hearts (53 per cent). A document that the inferior vena cava returned to a single superior vena cava was located on the right in morphological left atrium. Among those cases with II (34 per cent) and on the left in 3 (io per cent) the inferior vena cava on the right, 8 had abdominal cases. The inferior vena cava in its supradiaphrag- situs solitus, 8 had visceral heterotaxy, and 3 had matic course was on the right in I9 (60%) and on partial situs inversus. In i case with partial situs the left in 9 (28%) cases, which suggests that the inversus, a right-sided inferior vena cava crossed to systemic venous atrium was located in the corres- enter the systemic venous atrium which was situ- http://heart.bmj.com/ ponding position in cases in which the atrial mor- ated on the left. Of the 9 cases with a left-sided phology was not clearly defined (Van Praagh, inferior vena cava, 6 also had abdominal and atrial 1972; de la Cruz, Polansky, and Navarro-Lopez, situs inversus. I962). We accept the suggestion that the chamber Total anomalous pulmonary venous drainage into which the supradiaphragmatic inferior vena occurred in 23 or 72 per cent and partial anomalous ASPLENIA (32 PM.CASES) on September 30, 2021 by guest. Protected copyright. VENOUS SYSTEM 1) SUPERIOR VENA CAVA 3) PULMONARY VEINS Bi IateraI - 17 ( 53%) Anomalous drain.