Ref Number = PITIKA-ASPR0353
Dewi Rahmawati Syam, Denny Salverra Yosy, Ria Nova
Marfan syndrome is rare autosomal dominant, multisystem connective tissue disease. Cardiac manifestation is a major cause of increased morbidity and mortality. The aim of this study is to report a child with Marfan syndrome with aortic root dilatation.
A 12-year-old boy came to an endocrinologist with a chief complaint of tall stature. Other symptoms included abnormally shaped chest, back and hands. No clinical symptoms of cardiac anomaly were notable at presentation. On physical examination, vital signs were normal. Body weight was 51 kg (p50-p75), height 182 cm (> p97), with nutritional status of wasted (weight for height 71.8%). There were pectus carinatum, scoliosis thoracolumbal vertebrae, Steinberg thumb sign, Walker–Murdoch wrist sign and striae in back. No ectopia lentis, no murmur or any sign of heart failure. ECG and chest x-ray were normal. Echocardiography showed dilated LA-LV, trivia mitral regurgitation, redundant anterior mitral valve, prolapse anterior mitral valve, aortic root dilatation with diameter of 3.4 cm (normal range: 1.63 – 2.26 cm) Z score 6.58, sinus of valsava 3.44 cm (normal range: 2.5 – 2.96 cm) Z score 3.12, annulus of aorta 2.17 cm (normal range: 1.86 – 2.21 cm) Z score 1.48, sino-tubular junction 2.53 cm (normal range: 2.04 – 2.44 cm) Z score 1.97. The patient was given propranolol 10 mg three times a day. Patient was not indicated for corrective surgery yet.
In Marfan syndrome with aortic root dilatation, propranolol must be given even without any cardiac symptoms. We give propranolol to prevent complications. Routine echocardiography every 6 months should be done to evaluate the progression of aortic dilatation and to assess when surgical treatment is needed.
Keywords: Aortic root dilatation, Marfan syndrome, Children
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