Thorax, 1977, 32, 365-369

Syndrome of congenital ventricular diverticulumand midline thoraco-abdominal defectsGIUSEPPE GULA AND MAGDI YACOUB

From the Cardiothoracic Surgical Unit, Harefield Hospital, Middlesex

Gula, G. and Yacoub, M. (1977). Thorax, 32, 365-369. Syndrome of congenital ventriculardiverticulum and midline thoraco-abdominal defects. The long-term follow-up of a 30-year-oldpatient who had a correction of the syndrome of left ventricular diverticulum andthoraco-abdominal defects is presented. The main features of the syndrome include adiverticulum of the left ventricle, a ventricular septal defect, and sometimes other cardiacanomalies. The thoraco-abdominal defects consist of foreshortened sternum, pericardial anddiaphragmatic defects, and umbilical hernia. The association of these anomalies is thought to bedue to a developmental failure of the primitive paramidline mesoderm.The diagnosis can be made clinically by the presence of a pulsatile, epigastric mass associated

with signs of cardiac septal defects and dextrocardia. The prognosis of patients with thissyndrome depends mainly on the associated abnormalities although rupture of the diverticulumcan be a fatal complication.The treatment of choice is resection of the diverticulum combined with repair of associated

anomalies which can give good early and late results.

The association of a congenital ventricular diverti-culum with -other cardiac abnormalities and mid-line thoraco-abdominal defects has been describedby Cantrell et al. (1958). Its recognition is essentialfor accurate identification of the different ano-malies and their proper treatment. The purpose ofthis paper is to describe the long-term result in apatient in whom complete correction of the syn-drome had been performed six years previouslyand to draw attention to the characteristic lesionsand their significance.

Case report

A 30-year-old woman was admitted to HarefieldHospital with a history of cyanosis and increasingdyspnoea which were first noted when she was4 years old after an operation for umbilical hernia.There was no family history of cardiac disease orcongenital anomalies. On admission the physicalsigns included clubbing of the fingers and moderatecyanosis. The jugular venous pressure was normaland the radial pulse regular at a rate of 90 perminute. The blood pressure was 120/80 mmHg.There was also a slight prominence of the rightchest with no definite evidence of ventricular

hypertrophy. A pulmonary systolic thrill was feltand a loud systolic murmur was heard in the rightparasternal area over the fourth interspace. Inthe abdomen there was the scar of an umbilicalherniorrhaphy but no masses were palpable.Laboratory tests showed a red cell count of 4-3 X

1012/1 with a haemoglobin of 18 g/dl and haema-tocrit of 44%. Serological tests for syphilis werenegative. The radiograph showed oligaemic lungfields and the heart was slightly enlarged andsituated to the right of the spine with the appear-ance of dextrocardia. However, the aortic knuckleand the stomach were on the left (Fig. 1). Thechest wall was asymmetrical with moderatescoliosis. The electrocardiogram showed sinusrhythm at 90 per minute, right axis deviation, anupright P wave in lead 1, and moderate rightventricular hypertrophy in the chest leads (includ-ing the right chest leads). A clinical diagnosis ofFallot's tetralogy with dextroversion was made.

Cardiac catheterisation showed a typical Fallotsituation with identical pressures in both ventriclesand an atrial septal defect. Angiocardiographyshowed an anterior ventricle markedly rotated tothe right and backwards, giving rise to a pul-monary artery and infundibular and pulmonary

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Fig. 1 Posteroanterior chest radiographshowing apparent dextrocardia andoligaemic lung fields. Aortic knuckleand stomach are left sided.

valve stenosis. A tubular diverticulum originatingfrom the posterior ventricle, which was morpho-logically a left ventricle, was also present. Thediverticulum extended downwards and anteriorlyin the midline and showed a paradoxical motion,its size increasing more than 100% during ven-

tricular systole. The contrast medium filled thediverticulum uniformly and there was no evidenceof thrombus formation in the sac (Fig. 2).At operation (August 1970) a foreshortened

sternum was found. There was a large conicaldiverticulum protruding through a defect of thepericardium and diaphragm into the extraperi-toneal tissue and extending down to the umbilicus.The diverticulum arose from the apex of the leftventricle and so had caused the dextrorotation ofthe ventricles. There were several pedicles originat-ing from the abdominal wall and internal mam-

mary vessels attached to the diverticulum (Fig. 3).The pedicles contained venous channels and whatlooked like nerves, but no large arteries were

found. Other findings were typical of Fallot'stetralogy with infundibular and pulmonary valvestenosis. The pulmonary and aortic valves were

normally related. Exploration of the right atriumconfirmed the presence of a small secundum atrialseptal defect. Total correction of the cardiacdefects with excision of the tubular diverticulumof the left ventricle was performed on cardio-

pulmonary bypass. The pericardial and diaphrag-matic defects were also repaired.The postoperative course was uneventful and

the patient was discharged after two weeks. Sixyears later she remained asymptomatic withevidence of satisfactory correction of the cardiacand chest wall defects.

PATHOLOGYThe diverticulum was muscular and measured8 cm in length with a diameter of 3 cm. The wallwas 4 mm thick, being thinner than the mainbody of the left ventricle. The internal surfacewas finely trabeculated, resembling the endocardialsurface of the left ventricle (Fig. 4). Histologicalexamination of the sac showed normal myo-cardial tissue with patchy fibrosis.

Discussion

True congenital muscular diverticulum of theventricle is a rare condition. Edgett et al. (1969)could find only 25 previously reported cases. Inthe syndrome described, the diverticulum isassociated with a group of typical cardiac andthoraco-abdominal defects. A constant feature ofthe syndrome is the presence of a ventricularseptal defect with or without pulmonary stenosis(Cantrell et al., 1958). Transposition of the great

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F.>si. s ..................................................... ..::.ILFig. 3 Intraoperative view of left ventriculardiverticulum.

Fig. 2 Selective left ventriculogram(lateral projection) showing a tubulardiverticulum filled uniformly by thecontrast medium.

arteries, atrial septal defect or atrioventricularcanal are very rare additional lesions (Albrecht,1972; Miller and Matthews, 1973). The diverti-culum usually arises from the apex of the leftventricle. The heart therefore rotates in an anti-clockwise direction and the apex comes to lietowards the right, thus simulating dextrocardia.However, the aortic knuckle and the other organsare normally situated. Usually the diverticulumleaves the chest through a pericardial and dia-phragmatic defect, although sometimes it appearsthat the pericardium continues to envelop thediverticulum as far as the umbilicus (Lowe et al.,1959; Mulder et a!., 1960; Miller and Matthews,1973). The pouch of the diverticulum is continuouswith the ventricular cavity. Histologically the wallof the diverticulum shows the three layers of theheart with a certain amount of connective tissue.In some cases the main ventricular cavity showsendocardial fibroelastosis (Galindo et a!., 1957;Albrecht, 1972). Deformity of the chest wallwith a foreshortened sternum can also be present.The defects of the abdominal wall vary from anisolated umbilical hernia to the absence of theanterior segment of the diaphragm, diastasis recti,and an omphalocoele. The association of theseanomalies is thought to be due to a developmentalfailure of the primitive paramidline mesoderm inboth its somatic and splanchnic portions. These

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Fig. 4 The resected diverticulum showingtrabeculated internal surface with some endocardialfibrosis near the tip.

give rise to the pericardium, heart, diaphragm,and anterior abdominal wall.A portion of the primitive ventricle may project

through the weakened membranous part of thediaphragm as a diverticulum (Cantrell et al.,1958; Treistman et al., 1973).The diagnosis can easily be made in childhood.

The clinical picture is characterised by the pres-ence of a pulsatile epigastric mass which dis-appears under the sternum, associated with thesigns of septal cardiac defects, dextrorotation ofthe heart, and thoraco-abdominal midline defects.Some patients are first referred to a generalsurgeon for treatment of an umbilical hernia. Thediverticulum can be discovered at that time as apulsating, epigastric mass situated in the midlineof the upper abdomen. In addition, the presenceof a scar in the epigastrium, due to previousherniorrhaphy, and situs solitus with dextroversionin a patient with signs of ventricular septal defector Fallot's tetralogy is diagnostic of the syndrome.Electrocardiographic findings are variable accord-ing to the type and severity of the associatedcardiac anomalies. A characteristic pattern is theanticlockwise frontal loop due to malrotation ofthe heart produced by the diverticulum (Mulder

et al., 1960; Miller and Matthews, 1973). Cardiaccatheterisation and angiography confirm thediagnosis of ventricular diverticulum and definethe associated anomalies as well as the haemo-dynamic state.The prognosis of patients with this syndrome

appears to be poor as most of the reported casesdied early in life (Edgett et al., 1969; Albrecht,1972). The causes of death include complicationsrelated to the associated cardiac anomalies andrupture of the diverticulum. In the more extremeforms of the syndrome ectopia cordis or ompha-locoele can be directly responsible for death be-cause of direct mechanical damage. In some casesrupture is related to increased pressure inside thesac. This haemodynamic finding has been docu-mented by Lowe et al. (1959) and is thought to bedue to an obstruction of the mouth of the diverti-culum early in systole with continued contractionof its muscular wall.We believe that whenever the syndrome is

diagnosed early assessment and surgical treatmentis advisable. The procedure of choice is resectionof the sac combined with repair of the associatedanomalies.The first recorded attempt at surgical treatment

was by Wieting (1912), who replaced the diverti-culum in the pericardial sac and closed the open-ing in the diaphragm. Edgett et al. (1969), in areview of the literature, found 13 cases in whichthe diverticulum had been resected, with threeoperative deaths. To our knowledge, resection ofthe diverticulum combined with correction of theassociated cardiac and thoraco-abdominal defectshas been described in two cases (Mulder et al.,1960; Treistman et al., 1973) apart from thepatient described in this paper.

Long-term prognosis after excision of thediverticulum depends on the feasibility andefficacy of the correction of the associated cardiacanomalies and the degree of pulmonary vasculardisease. Although diffuse fibroelastosis of the leftventricle in such patients has been reported themyocardium appears to be normal in the majorityof cases. Six years after the operation our patientis asymptomatic with evidence of anatomicallyand functionally complete repair of the lesions.

References

Albrecht, G. (1972). Beitrag zur Morphologie undformalen Genese kongenitaler Herzdivertikel.Zentralblatt fur allgemeine Pathologie undpathologische Anatomie, 116, 42-47.

Cantrell, J. R., Haller. J. A., and Ravitch, M. M.(1958). A syndrome of congenital defects involvingthe abdominal wall, sternum, diaphragm, peri-

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cardium, and heart. Surgery, Gynecology andObstetrics, 107, 602-614.

Edgett, J. W., Jr., Nelson, W. P., Hall, R. J., Fishback,M. E., and Jahnke, E. J. (1969). Diverticulum ofthe heart: part of the syndrome of congenitalcardiac and midline thoracic and abdominal defects.American Journal of Cardiology, 24, 580-583.

Galindo, L., Arean, V. M., Stevenson, D. S., andRivera, E. S. C. (1957). Congenital diverticulum ofthe heart. American Journal of Clinical Pathology,27, 84-88.

Lowe, J. B., Williams, J. C. P., Robb, D., and Cole,D. (1959). Congenital diverticulum of the leftventricle. British Heart Journal, 21, 101-106.

Miller, J. D. and Matthews, E. C. (1973). Congenitalcardiac diverticulum. American Journal of Diseasesof Children, 126, 814-816.

Mulder, D. G., Crittenden, I. H., and Adams, F. H.(1960). Complete repair of a syndrome of congenitaldefects involving the abdominal wall, sternum,diaphragm, pericardium and heart; excision of leftventricular diverticulum. A nnals of Surgery, 151,113-122.

Treistman, B., Cooley, D. A., Lufschanowski, R., andLeachman, R. D. (1973). Diverticulum or aneurysmof left ventricle. American Journal of Cardiology,32, 119-128.

Wieting, W. (1912). Eine operativ behandelte Herz-missbildung. Deutsche Zeitschrift fur Chirurgie,114, 293-295.

Requests for reprints to: M. H. Yacoub, FRCS,Harefield Hospital, Harefield, Uxbridge, Middlesex.

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