Asia Pacific Journal of Pediatric and Child Health

Abstract Ref Number = APCP844

Poster Presentation

MULTIDISCIPLINARY APPROACH IN A CHILD WITH MARFAN SYNDROME

Mia Kantiasih Rajasa,Martinus Nuherwan Desyardi,Sukman Tulus Putra Eka Hospital BSD

Background : Marfan syndrome (MFS) is a multisystem connective tissue disorder on the fibrillin gene (FNB1) of chromosome 15, with clinical manifestations involving the cardiovascular, skeletal and ocular system. Cardiovascular complications remain the leading cause of morbidity and mortality, often requiring surgery. Early and continuous multidisciplinary team approach proves essential in management of the syndrome. Case Presentation Summary : A 10-year old girl was referred by a cardiologist, from Samarinda General Hospital with severe mitral regurgitation, and suspected MFS. There is history of dyspnea, abnormal spinal growth and episodes of palpitations exacerbated by moderate physical activity 6 months prior to hospitalization. She has since been treated with captopril, furosemide, and spironolactone with minimal progress. Genetic history was denied within the family. Physical examination revealed an arm-span-to-height ratio of > 1.05,with long and narrow thin face, and malar hypoplasia as craniofacial features. Pectus carinatum, positive wrist and thumb sign, and scoliosis were also present. A pansystolic murmur above the apex was heard on auscultation, and assessment with our ophthalmologist revealed severe myopia and ectopia lentis; findings consistent with the Ghent 2010 nosology for MFS diagnostic criteria. Chest x-ray and CT angiography performed featured severe scoliosis, and aortic root dilatation with Z-score >2 and sacral dural ectasia respectively. Multidisciplinary team collaboration led by pediatric cardiologist, and cardiovascular surgeons agreed to perform surgical repair of the mitral and tricuspid valve. Post-operative echocardiography revealed mild mitral regurgitation, and improved left ventricular function, thus previous drug regimen was continued. The patient was discharged 12 days post-surgery, able to conduct light physical activity with no episodes of dyspnea nor chest pain and was referred to Samarinda General Hospital for control work-up. Learning Points/Discussion : Cardiovascular complication of MFS should be detected early as soon as the diagnosis is established. Early and appropriate management is needed to prevent serious complications and mortality.

Keywords: marfan syndrome mitral valve regurgitation mitral valve repair multidisciplinary team