Ann Thorac Surg 1998;66:523-526
© 1998 The Society of Thoracic Surgeons
Original articles: cardiovascular
Total cavopulmonary anastomosis (Fontan) in children with Down’s syndrome
Rosalie M. Campbell, MB, BChc,
Ian Adatia, MB, ChBa,c,d,
Robert M. Gow, MDa,d,
Gary D. Webb, MDf,
William G. Williams, MDb,e,
Robert M. Freedom, MDa,d
a Division of Cardiology, The Hospital for Sick Children, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada
b Division of Cardiovascular Surgery, The Hospital for Sick Children, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada
c Department of Critical Care Medicine, The Hospital for Sick Children, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada
d Department of Pediatrics, The Hospital for Sick Children, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada
e Department of Surgery, The Hospital for Sick Children, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada
f Toronto Congenital Cardiac Centre for Adults, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada
Accepted for publication March 14, 1998.
Address reprint requests to Dr Adatia, Critical Care Medicine and Cardiology, The Hospital for Sick Children, 555 University Ave, Toronto, Ont, Canada M5G 1X8
e-mail: (iadatia{at}sickkids.on.ca)
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Abstract
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Background. There is a paucity of information to guide the management of the child with Down’s syndrome and congenital heart disease in whom biventricular repair is precluded.
Methods. Through the cardiology and cardiovascular surgery databases of The Hospital for Sick Children and Toronto Congenital Cardiac Centre for Adults, we identified patients with trisomy 21 and ventricular hypoplasia who had undergone a Fontan procedure (or modification).
Results. Of 533 patients who had undergone a Fontan operation between 1976 and 1997, 4 had trisomy 21. All 4 patients had unbalanced complete atrioventricular septal defect with right ventricular hypoplasia in 3 and left ventricular hypoplasia in 1. Three patients survived, and 1 died of endocarditis. The 3 survivors have done well in the short term and medium term without complications related to the pulmonary vasculature.
Conclusions. We suggest that in appropriately selected patients with trisomy 21 and ventricular hypoplasia who are unsuitable for two or one and a half ventricle repair, the Fontan procedure is not contraindicated and provides short-term and medium-term benefit.
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Introduction
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Refinements and modifications of the Fontan operation (total cavopulmonary anastomosis) provide definitive surgical palliation for children with congenital heart disease in whom biventricular repair is precluded [1–7]. Children with Down’s syndrome (trisomy 21) have a high incidence of congenital heart disease [8–10] and rarely hypoplasia of either ventricle [9, 11, 12]. However, despite an extensive worldwide experience with the Fontan procedure and several series containing more than 500 patients, there is a paucity of information to guide management of the patient with trisomy 21 and ventricular hypoplasia [2–7]. Although the results of bidirectional superior cavopulmonary shunts both in isolation [13–15] and as part of the so-called one and a half ventricle repair [16] have been reported in children with trisomy 21, we found description of the Fontan operation in only 3 patients with Down’s syndrome [13, 15]. Therefore, we report the results of total cavopulmonary anastomosis in 4 patients with trisomy 21 and unbalanced atrioventricular septal defect.
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Material and methods
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Through the cardiology and cardiovascular surgery databases of The Hospital for Sick Children and Toronto Congenital Cardiac Centre for Adults, we identified patients with trisomy 21 and ventricular hypoplasia severe enough to preclude biventricular repair. We reviewed in detail the case histories of patients who had undergone a Fontan procedure (or modification). We reviewed all available clinical and surgical reports and echocardiographic, cardiac catheterization, and angiographic data. The compiled information forms the basis of this report. In all patients, the diagnosis of trisomy 21 was made on clinical examination and was supported by karyotyping.
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Results
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We identified 4 patients with trisomy 21 out of 533 who had undergone a Fontan operation or a modification thereof between 1976 and 1997. All 4 patients had unbalanced complete atrioventricular septal defect with right ventricular hypoplasia in 3 and left ventricular hypoplasia in 1. Clinical details are given in Table 1. Of note, all 4 patients had had pulmonary artery banding, and patient 2 had had repair of an aortic coarctation in the first year of life. All patients were considered unsuitable for biventricular repair because of ventricular hypoplasia and, in particular, major commitment of the common atrioventricular valve to the dominant ventricle. No patient had hypercarbia, sleep apnea, or upper-airway obstruction. Only 1 patient (patient 3) was staged with a prior bidirectional superior vena cava–pulmonary artery anastomosis. The preoperative hemodynamics (see Table 1) fulfilled our institutional criteria for palliation with a Fontan procedure.
There was one postoperative death, which occurred 35 days after the Fontan operation and was due to aortic valve endocarditis with resultant severe valvular incompetence. The patient died after replacement of the aortic valve. There were no early deaths as a result of pulmonary vascular disease. The early postoperative period was marked by chylothorax in 3 patients and, for survivors, a prolonged hospital stay, although not a prolonged stay in the intensive care unit. The length of hospitalization ranged from 14 to 22 days and was determined by the need of pleural drainage. Postoperative data are summarized in Table 2.
Follow-up for the 3 survivors is 6 months, 8 years, and 9 years. Postoperative cardiac catheterization (12 months postoperatively) in patient 1 demonstrated a mean pulmonary artery pressure of 10 mm Hg and a left ventricular end-diastolic pressure of 6 mm Hg. The patient has a mild degree of subaortic stenosis and decreased ventricular function with an ejection fraction of 0.52. Her exercise tolerance is limited by chronic sequelae of congenital hip dysplasia. She experienced one episode of syncope recently, but the findings on a 24-hour Holter test were unremarkable. The other 2 survivors remain well. At the last assessment, all 3 patients had a high right atrial rhythm on resting electrocardiogram, preserved ventricular function, and mild or no atrioventricular valve regurgitation by echocardiography.
Between 1976 and 1997, 15 other patients with Down’s syndrome were seen with similar cardiac anatomy. Eight had left ventricular hypoplasia and 7, right ventricular hypoplasia with an atrioventricular septal defect in 14 of the 15. Four patients received no palliative surgical treatment; 3 died, and 1 is alive after 15 years. Eleven patients underwent palliative surgical intervention: stage-one Norwood in 1 patient; pulmonary artery banding in 6 patients; modified Blalock-Taussig shunt in 3; and right ventricular outflow tract patching in 1. Ten patients survived the initial operation, and 6 of them were considered unsuitable for further palliation with a cavopulmonary anastomosis because of elevated pulmonary vascular resistance (n = 6), severe atrioventricular valve regurgitation (n = 5), and severe ventricular hypertrophy with subaortic stenosis (n = 2). Five of the 6 patients have died, and 1 is alive after two modified Blalock-Taussig shunts. Four patients underwent a superior cavopulmonary anastomosis. One died postoperatively with an elevated pulmonary vascular resistance and subaortic stenosis; 1 had unfavorable hemodynamics for completion of the total cavopulmonary shunt and subsequently underwent successful cardiac transplantation; 1 with critical pulmonary stenosis and right ventricular hypoplasia has received successful palliation with a superior cavopulmonary anastomosis, a partial biventricular repair, and closure of the atrial septal defect; and 1 is awaiting completion of a total cavopulmonary connection.
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Comment
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There is a paucity of information to guide the management of the child with Down’s syndrome and congenital heart disease in whom biventricular repair is precluded. In part, this is related to the rarity with which severe ventricular hypoplasia occurs in trisomy 21 [9, 11, 12, 14] (between 2% and 10% of postmortem studies [9, 11]) and to concern about pulmonary vasoconstriction exacerbated by nighttime hypercarbia and hypoxia [14, 17, 18]. Indeed, reports of large series of patients undergoing Fontan procedures fail to mention the presence of trisomy 21 [2–7]. Similarly, our experience with 533 Fontan-type procedures is limited to 4 patients with trisomy 21. Knott-Craig and associates [13] described a patient with trisomy 21 who underwent a Fontan operation but died of the sequelae of an elevated pulmonary vascular resistance postoperatively, and Spicer and coworkers [15] reported completion of the total cavopulmonary anastomosis in only 2 of 5 patients who were staged with a superior cavopulmonary anastomosis. We have experience with superior cavopulmonary anastomosis in 5 patients with trisomy 21; 1 died early, 1 had unfavorable hemodynamics for a total cavopulmonary shunt. He underwent successful cardiac transplantation.
Children with Down’s syndrome and anatomy unsuited to biventricular repair have a number of inherent adverse factors that may mitigate enthusiasm for definitive single-ventricle palliation. Importantly, these factors include abnormalities of lung development (in particular hypoplasia), pulmonary immunocompetence, hypotonia and hypoventilation, and upper-airway obstruction with a propensity for nighttime hypercarbia, hypoxia, and consequent pulmonary vasoconstriction with a predisposition for the development of pulmonary vascular disease [18, 19]. In addition, most candidates for a Fontan-type procedure who have trisomy 21 will have undergone pulmonary artery banding, with subsequent ventricular hypertrophy, and will have a common atrioventricular valve, all of which have been reported to confer increased risk of an adverse outcome [7, 20, 21].
An alternative approach for some patients with trisomy 21 and right ventricular hypoplasia but without major commitment of the atrioventricular valve to the left ventricle is partial biventricular repair with a bidirectional superior cavopulmonary anastomosis (or so called one and a half ventricle repair). This was used successfully by us in 1 child and by Alvarado and colleagues [16] in 5 children with Down’s syndrome.
At any stage of palliation, cardiac transplantation may be a treatment option, but it remains relatively unexplored for the child with Down’s syndrome and congenital heart disease. This is especially pertinent, as the attrition rate on the route to the Fontan operation for the child born with trisomy 21 and ventricular hypoplasia is substantial. In our experience, only 5 of 19 patients achieved definitive palliation, 4 with a total cavopulmonary anastomosis and 1 with a one and a half ventricle repair. Nevertheless, this report suggests that in the rare child with trisomy 21 and ventricular hypoplasia, low mean pulmonary artery pressures, preserved atrioventricular valve, and ventricular function without upper airway obstruction or nighttime hypoventilation, a total cavopulmonary procedure can be undertaken with reasonable short-term and intermediate-term mortality and morbidity.
In summary, we describe use of the Fontan operation or a modification of it for palliation of patients with trisomy 21 and unbalanced atrioventricular septal defect. Three patients survived, and 1 died of endocarditis. Although 3 patients had prolonged pleural drainage with chylothorax, the 3 survivors have done well in the short term without complications related to the pulmonary vasculature. We suggest that in appropriately selected patients with trisomy 21 and ventricular hypoplasia who are unsuitable for two or one and a half ventricle repair, the Fontan procedure is not contraindicated and provides short-term benefit.
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References
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Abstract
Introduction
