日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

A 19-year-old male presented with a history of mild muscle weakness, hypoacusis, cleft lip plate, and delayed development since birth. However, a chromosomal analysis had been refrained. At the age of 16 years, a heart murmur was identified for the first time during a school checkup, and aortic valve regurgitation was identified by echocardiography. At that time, he was diagnosed with partial trisomy and monosomy 18 based on G-banding analysis and was then referred to our hospital for comprehensive management of the chromosomal disease and aortic valve insufficiency. The regurgitation gradually progressed, and we performed aortic valve replacement with a mechanical valve. The postoperative course was uneventful, and pathological examination revealed that each leaflet of the aortic valve was thickened and hyalinized mainly around the Arantius body. Alcian blue and periodic acid-Schiff staining also confirmed the myxomatous change around the aortic valve and wall. Hematoxylin–eosin staining confirmed the lengthening, disruption, and effacement of the collagen fiber in aortic media. However, we found no significant macroscopic findings on the aortic wall. Single nucleotide polymorphism and comparative genomic hybridization microarray analysis revealed a deletion only at the long arm of chromosome 18, and the patient was diagnosed with 18q-syndrome. We report the first case of partial monosomy 18 during adolescence requiring cardiovascular surgery and discuss the cardiovascular features of this chromosomal abnormality.