ArticleAnnals of pediatric cardiology
Giant ascending aortic aneurysm in a 2-year-old child with Kabuki syndrome: A rare cardiovascular pathology and successful surgical repair.
Article in Annals of pediatric cardiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Kabuki syndrome (KS) is a rare genetic disorder characterized by multisystemic involvement, craniofacial dysmorphism, and congenital heart defects. We present a 2.5-year-old boy with genetically confirmed KS who was admitted with a giant ascending aortic aneurysm and critical aortic coarctation. The patient underwent successful surgical repair with resection of the aneurysm and conduit placement between the mid-descending aorta and the region above the coronary ostia. In addition, the presence of significant aortic pathology in a sibling highlights the need for family screening in KS. This case emphasizes the broad spectrum of cardiovascular involvement in KS and the importance of early diagnosis and multidisciplinary management.
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