Mucolipidosis is an autosomal recessive lysosomal storage disorder that demonstrates a clinical resemblance to mucopolysaccharidosis. Accumulation of glycoproteins throughout the body causes dysfunction of several organs, in particular, valvular heart diseases are an important cause of mortality, however, there is no consensus guideline regarding the indications and optimal timing of the surgical repair because of the unclear and short natural history. Here we present 12- and 15-year-old siblings diagnosed with mucolipidosis who underwent aortic valve replacement. The senior sibling received redo-aortic valve replacement for prosthetic valve dysfunction 11 years after the initial surgery. A few surgical valve replacements in patients with mucopolysaccharidosis have been reported, however, there is no published case of aortic valve replacements in two siblings with mucolipidosis.

A 71-year-old man presented to our hospital with sudden-onset epigastric pain. He reported a history of undergoing the following operations : aortic valve replacement for aortic regurgitation 11 years earlier and graft replacement of the ascending aorta for acute type A aortic dissection, 1 year earlier. His systolic blood pressure was 70 mmHg, and computed tomography revealed a pseudoaneurysm of the distal anastomosis of the ascending aorta with a connection to the right pulmonary artery. Cardiopulmonary bypass was established with cannulation of the right axillary artery and the right femoral vein, and systemic cooling was initiated before sternotomy. We identified an area showing 3 cm dehiscence at the distal aortic anastomosis after hypothermic circulatory arrest and selective cerebral perfusion. The ascending aorta was replaced as hemiarch replacement, and the defect in the right pulmonary artery was closed with bovine pericardium. The patient's postoperative course was uneventful, and he was transferred to a rehabilitation hospital on the 22nd postoperative day.