Abstract:
Spina bifida is a neural tube defect that occurs due to a fault in the formation of the spinal cord during embryonic life. Jarcho-Levin syndrome (JLS) is a rare syndrome with a prevalence of 0.25/10,000. The syndrome has two subtypes: spondylocostal dysostosis (SCDO) and spondylothoracic dysostosis (STD).
Spondylocostal dysostosis (SCDO) can be classified into six categories according to the OMIM classification: Type 1 (602768), Type 2 (605195), Type 3 (602576), Type 4 (608059), Type 5 (602427), and Type 6 (609891). SCDO type 4 is associated with cardiovascular anomalies such as dextrocardia and unilateral vertebral artery hypoplasia, as well as neurological conditions like spina bifida occulta and myelomeningocele.
Objective: The aim is to compare the echocardiographic findings of patients with spina bifida diagnosed with Jarcho-Levin syndrome and those diagnosed solely with spina bifida.
Methods: A total of 115 patients with spina bifida anomalies, aged between 0 and 18 years, were included in the study from a spina bifida application and research center. Of this patient group, 44 were diagnosed with Jarcho-Levin syndrome, while 71 had spina bifida anomalies without Jarcho-Levin syndrome. The entire JLS patient group belonged to the spondylocostal (SCDO) subtype.
Results: Of the 44 patients with Jarcho-Levin syndrome, echocardiographic findings were completely normal in 25 cases, while 17 had a patent foramen ovale (PFO), 1 had moderate mitral insufficiency and mitral valve prolapse, and 1 had mild aortic insufficiency with a bicuspid aortic valve. Among the patients with PFO, 3 had concomitant cardiac pathologies.
Among the 71 patients with spina bifida anomalies but without Jarcho-Levin syndrome, 25 had completely normal cardiac anatomy and function, 38 had a PFO, 5 had an atrial septal defect (ASD), 1 had tricuspid insufficiency, 1 had Fallot tetralogy, and 1 had mild aortic root and ascending aorta dilation. Of the patients with PFO, 3 had an aneurysmal interatrial septum, and 1 had mild IVS hypertrophy.
The prevalence of PFO, which can be observed without causing pathology in 20% of the population, was 38.6% in Jarcho-Levin Syndrome, and 53.5% in SB patients without JLS diagnosis. In the included JLS patients, 56.8% had spina bifida patients, while 35.2% had completely normal echocardiography.
Discussions: In both patient groups included in our study, the rates of detecting congenital heart anomalies are much higher compared to the normal population. Patients with spina bifida anomalies in JLS have a lower incidence of congenital heart anomalies compared to spina bifida patients not included in the syndrome. Our study emphasizes the importance of proper examination and echocardiography screening in this patient group.
Audience Take Away
- Understanding of Spina Bifida and Jarcho-Levin Syndrome: They will gain insight into the nature of Spina Bifida as a neural tube defect and Jarcho-Levin Syndrome, a rare condition characterized by specific subtypes affecting spinal and thoracic development
- They will understand the aim of the study, which is to compare echocardiographic findings between patients diagnosed with Spina Bifida and those diagnosed with Jarcho-Levin Syndrome
- Analysis and interpretation of the results, comparing the rates of congenital heart anomalies between the two patient groups, will help the audience understand the implications of the study findings.
- They will gain insights into the importance of proper examination and echocardiography screening in patients with Spina Bifida and Jarcho-Levin Syndrome
