C10. An ultra-rare case of Hutchinson–Gilford progeria syndrome with severe aortic regurgitation due to bicuspid aortic valve in a 9-year-old girl

Hutchinson-Gilford progeria syndrome (HGPS) is an ultra-rare autosomal dominant that result in progressive premature aging syndrome. Cardiovascular diseases become the main cause of mortality including myocardial infarction, interstitial myocardial fibrosis, hypertension and calcification of the mitral and aortic valves. However, the relationship between HGPS and bicuspid aortic valve (BAV) has not been documented yet.

A 9-year-old girl with HGPS presented to the outpatient clinic with a complaint of shortness of breath since 5 years ago, especially when she did moderate physical activity. Chest pain and palpitation were denied. Her physical examination revealed short stature, thin, wrinkled skin, craniofacial disproportion with alopecia, shrunken facies and prominent scalp veins. There was failure to thrive and diastolic murmur grade 2/4 is heard on the aortic area. Laboratory test showed leukocytosis. Transthoracic echocardiogram showed severe aortic regurgitation due to calcified bicuspid aortic valve and mild mitral regurgitation. She was managed by conservative therapy because her parents were still considering the aortic valve repair procedure.

The HGPS patient with severe aortic regurgitation due to BAV should be managed to reduce cardiovascular complications. Aortic valve repair is an interesting alternative to replacement managing aortic regurgitation due to BAV in young adults. Recently, advanced science about BAV disease and refinement of surgical techniques improved standardization of BAV repair procedure.