Case Report
Spondylocostal Dysostosis and Complex Congenital Heart Disease Giridhar Santhanam1, Johannes du Plessis 1, Omar Tamimi1 and Neerod Kumar Jha2 Departments of Pediatric Cardiology1 and Cardiac Surgery2, King Abdulaziz Cardiac Center, King Fahad National Guard Hospital, Riyadh, Saudi Arabia
ABSTRACT Spondylocostal dysostosis is a rare genetic disorder characterised by multiple morphological abnormalities of the vertebrae and the ribs. The association of this disorder with congenital heart disease is extremely rare and very few cases have been reported so far. We report herein, a case of autosomal recessive form of spondylocostal dysostosis in association with complex congenital heart diseases, who underwent cardiac surgery successfully. [Indian J Chest Dis Allied Sci 2007; 49: 163-164] Key words: Dysostosis, Spondylocostal, Congenital, Surgery, Genetic.
INTRODUCTION Spondylocostal dysostosis (SCD) is a rare heterogeneous group of disorders, characterised by typical morphological abnormalities coupled with characteristic clinical picture and radiological features. The term spondylocostal dysostosis has been recommended in the revised international nomenclature of constitutional diseases of bone. 1 Only few cases of SCD have been reported to be associated with congenital heart disease.25 We report herein, a rare case of autosomal recessive form of SCD in association with complex congenital cyanotic heart disease in an infant.
CASE REPORT An 11-month-old Saudi girl, who was the first child of her parents, presented with a history of cyanosis while crying since one month of age and a failure to thrive. Her parents were first cousins. The birth weight and head circumference were 2.5 kg and 32 cm, respectively. There was no family history of congenital spinal abnormality. On examination, the baby had dysmorphic features particularly a short neck with a low posterior hairline, short trunk and thick curly hair (Figure 1). In addition, she had a depressed nasal bridge, and puffiness of the dorsum of the feet. The length, weight and head circumference of the infant were less than 5th percentile on standard growth charts. The inter nipple distance was 10 cm (5-50th percentile). The child also exhibited a mild developmental delay. Central cyanosis
Figure 1. Photograph of the patient showing dysmorphic features of spondylocostal dystosis, namely, a short neck, posterior hairline, thick curly hair and short trunk.
was noted with an oxygen saturation of 80% on room air. A 2-dimensional echocardiogram and angiocardiogram revealed double outlet right ventricle, an unbalanced complete atrioventricular septal defect, mild hypoplasia of the left ventricle, mild hypoplasia of
[Received: March 14, 2006; accepted: May 15, 2006]
Correspondence and reprint requests: Dr Giridhar Santhanam, Departments of Pediatric Cardiology, Mail Code-1413, King Fahad Hospital, PO Box-22490, Riyadh, Saudi Arabia; Phone: 966-1-2520088; Extn 6771; Fax: 966-1-2520088; Extn 6700; E-mail:
[email protected].
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the main and branch pulmonary arteries, and a small patent ductus arteriosus. The skeletal survey showed hemi-vertebrae in the lower dorsal spine and fusion of the posterior portion of lower ribs with scoliosis (Figure 2). However, abdominal ultrasonography, chromosomal karyotyping, FISH studies for chromosome 22q micro deletions, magnetic resonance imaging (MRI) brain and biochemical studies were normal. The child underwent a successful bi-directional cavo-pulmonary shunt operation on cardiopulmonary bypass. The patient is being followed up for her long-term medical and surgical management in a satisfactory condition.
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fused vertebrae and absent, bifid or fused ribs. The mode of inheritance may be autosomal dominant or recessive with varying levels of severity.7, 8 The presence of first-degree parental consanguinity in the present case suggests an autosomal recessive inheritance. The association between SCD and congenital heart disease has been reported only in a few case studies, which were mostly cardiac positional anomalies.2-5 The most severe form of autosomal recessive type of SCD, Jarcho-Levin syndrome has been reported to be associated double outlet right ventricle or atrioventricular septal defect.2, 4 The heart in our patient had similar defects, in addition to the presence of pulmonary valvular and subvalvular stenosis and hypoplasia. The surgical implications and long-term outcome of management of such patients is not clear and the presence of spinal or genetic abnormalities might have a bearing on patient selection, surgical procedure and outcomes especially in view of the possible altered dynamics of the chest wall and remains a challenge.
ACKNOWLEDGEMENTS The authors are thankful to Dr Stefan Sandstrom, former Consultant in the Department of Radiology, King Fahad Hospital, Riyadh, Saudi Arabia for his contribution in getting the images and preparation of the munuscript.
REFERENCES 1.
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Figure 2. Radiograph of thoracolumbar region (PA view) showing fused, hemi vertebrae and fused or bifid ribs.
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DISCUSSION 5.
Spondylocostal dysostosis is characterised by multiple morphological abnormalities of the vertebrae and ribs due to the mal-segmentation of the axial skeleton, probably before the 20th day of gestation. 6 As in our patient, affected individuals present with a short, immobile neck, short trunk, dwarfism and spinal deformity including kyphoscoliosis. Other features described in association with this disorder include protuberant abdomen, muscular hypotonia, lumbar lordosis or inguinal hernia. Radiological features of SCD comprise mainly, hemi or
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7. 8.
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