Asian Cardiovasc Thorac Ann 2003;11:342-343
© 2003 Asia Publishing EXchange Ltd
Total Cavopulmonary Connection in a Bedridden Patient With Sotos Syndrome
Takashi Miyamoto, MD,
Kazuo Kitahori, MD,
Kagami Miyaji, MD,
Nobuhiro Nagata, MD,
Seiyou Yasui, MD1
Department of Cardiovascular Surgery
1 Department of Cardiology, Kanagawa Children’s Medical Center, Yokohama, Japan
For reprint information contact: Takashi Miyamoto, MD Tel: 49 228 209 4938 Fax: 49 228 209 4938 email: tmiyamoto-cvs{at}umin.ac.jp Adenauerallee 11, 53111 Bonn, Germany.
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ABSTRACT
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Sotos syndrome is an overgrowth disorder of unknown etiology associated with a high incidence of congenital heart defects. Of 60 patients with Sotos syndrome treated in our hospital, 6 had congenital heart defects. We describe a case of successful total cavopulmonary connection at 30 months of age in a patient having pulmonary atresia with intact ventricular septum and a patent ductus arteriosus who had walking disability. The postoperative course was uneventful.
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INTRODUCTION
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Sotos syndrome, first described in 1964,1 is characterized by macrocephaly, frontal bossing, prominent pointed chin, high hairline, hypertelorism, down slanting palpebral fissures, high arched palate, flat nasal bridge, advanced bone age, and large hands and feet. Mild to moderate developmental delay is present, often associated with behavioral problems and emotional immaturity that persist into adulthood. The main clinical finding is pre- and postnatal overgrowth. Other complications are heterotopias and hydronephrosis.
A higher incidence of congenital heart defects (CHD) has been reported in patients with Sotos syndrome than in those without the disorder. We describe the case of a bedridden patient having pulmonary atresia with intact ventricular septum (PA/IVS) and a patent ductus arteriosus (PDA) who was treated by total cavopulmonary connection (TCPC).
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CASE REPORT
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The female patient, born after a full-term pregnancy, weighed 3.2 kg (50th centile), was 49.8 cm tall (70th centile), and had an occipitofrontal head circumference of 34 cm (60th centile). She was admitted because of increasing cyanosis. Echocardiography showed PA/IVS, an atrial septal defect, and a PDA. The patient was started on prostaglandin E1 to maintain ductus patency and underwent balloon atrial septectomy at 16 days of age. At 11 months of age, cardiac catheterization revealed PA/IVS and a large PDA. At age 26 months, a bidirectional Glenn shunt was created and the PDA ligated without cardiopulmonary bypass. Postoperative cardiac catheterization revealed mean superior and inferior vena caval pressure of 6 mm Hg and 2 mm Hg, respectively, mean pulmonary arterial pressure of 6 mm Hg, pulmonary to systemic flow ratio of 0.50, pulmonary vascular resistance index of 1.9 Wood units•m-2, and a Nakata index of 400 mm2•m-2. Therefore, extracardiac fenestrated TCPC was planned.
At age 30 months, septectomy and extracardiac TCPC between the inferior vena cava and the right pulmonary artery were performed to enable the offset flow of the vena cavae. Cardiopulmonary bypass was terminated without difficulty. Although the conduit was confirmed not obstructed, the patient’s hemodynamics were unstable (aortic pressure < 80 mm Hg, central venous pressure > 18 mm Hg). Therefore, a fenestra between the conduit and the right atrium was constructed with a 4-mm polytetrafluoroethylene graft. The patient was transferred to the intensive care unit with a central venous pressure of 15 mm Hg and an aortic pressure of 70 mm Hg.
The postoperative course was uneventful. The echocardiogram showed no significant gradient at the conduit site. At the 6-month follow-up, the child remained asymptomatic and showed improvement in walking exercises.
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DISCUSSION
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To date, the literature has reported approximately 300 cases of Sotos syndrome.1,2 These patients have CHD more frequently than those without the syndrome.3,4 Among 60 Sotos syndrome patients (26 females and 34 males) seen in our hospital, 6 (10%) had CHD (1 PDA, 1 atrial septal defect, 1 tetralogy of Fallot, 1 aortopulmonary window, 2 PA/IVS). The 2 cases of PA/IVS are of some interest because it is a very rare defect. Moreover, an exhaustive review of the literature indicates that Sotos syndrome has never been reported among successful cases of Fontan operation.
PA/IVS is characterized by varying degrees of right ventricular hypoplasia. This factor is critical in determining the most appropriate surgical approach for each patient. The 2 cases reported here had severe right ventricular hypoplasia, thus biventricular repair was contraindicated. We eventually decided to perform the Fontan operation5 in both patients.
In our first case (not presented), we delayed the Fontan operation because of high mean superior vena caval pressure (18 mm Hg) and mean pulmonary arterial pressure (17 mm Hg) and, especially, a high pulmonary vascular resistance index (6.0 Wood units•m-2). He underwent bidirectional Glenn operation at 32 months of age. At the time of writing, the child was 13 years old and in a stable condition except for moderate cyanosis (75% oxygen saturation). In our second case (the present patient), the patient was bedridden because of undeveloped walking ability. Sotos syndrome is also characterized by gait disorder. In our experience, all patients will have developed walking ability by 7 years of age. If the Fontan procedure is postponed, collateral vessels will develop. Therefore, we decided to perform extracardiac TCPC ahead of time so that the patient could start walking at an earlier age. She had been doing well in the 6 months since discharge. Because Sotos syndrome is associated with several disorders, we should perform the Fontan procedure in these patients, provided that they meet the indications for the operation.
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REFERENCES
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- Sotos J, Dodge P, Muirhead D, Crawford JD, Talbot NB. Cerebral gigantism in childhood: a syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder. N Engl J Med
1964;271:109–16.
- Marci M, Ziino O, D’Angelo P, Miranda G, Pappone C, Battaglia A. Fibroma of the left ventricle in a patient with Sotos syndrome. Echocardiography
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- Kaneko H, Tsukahara M, Tachibana H, Kurashige H, Kuwano A, Kajii T. Congenital heart defects in Sotos sequence. Am J Med Genet
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- Murthy KS, Coelho R, Naik SK, Punnoose A, Thomas W, Cherian KM. Novel techniques of bidirectional Glenn shunt without cardiopulmonary bypass. Ann Thorac Surg
1999;67:1771–4.[Abstract/Free Full Text]
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ABSTRACT
INTRODUCTION
