Nakano Satoshi, Saiki Hirofumi, Saito Kanchi, Sato Akira, Takizawa Yurie, Kuwata Seiko, Oyama Kotaro
Pediatric Cardiology, Iwate Medical University, Shiwa, JPN.
Pediatrics, Michinoku Medical Center on Disability and Health, Shiwa, JPN.
Cureus. 2025 Jun 12;17(6):e85871. doi: 10.7759/cureus.85871. eCollection 2025 Jun.
Infectious endocarditis (IE) in patients with Williams syndrome is usually associated with left-sided heart lesions, whereas right-sided endocarditis is rarely observed. This can be explained by the natural course of congenital heart lesions in Williams syndrome, in which right-sided heart lesions are likely to spontaneously regress with patient growth. We encountered a 29-year-old patient diagnosed with right-sided infective endocarditis. His diagnosis was supported by the modified Duke criteria, one major criterion of positive blood culture twice with , a type of gram-positive , and three minor criteria of the presence of congenital heart disease, persistent fever higher than 38.0℃, and spatial and temporal dissemination of septic pulmonary emboli. Although his supravalvular aortic stenosis remained mild, peripheral pulmonary stenosis was progressive even after adulthood, which might have been attributed to the development of right-sided infectious endocarditis, based on the biased distribution of septic emboli. Severely advanced caries with extensive tooth decay were not diagnosed until the development of IE because of intellectual disability and inability to report subjective symptoms. The subsequent development of diverticulitis after the treatment of infectious endocarditis was difficult to diagnose, and the management of this patient became more complicated. As the disease-specific pathophysiology progresses with age and adult Williams syndrome patients are less likely to express subjective symptoms, a multidisciplinary approach by the medical team comprised of cardiologists, nephrologists, gastroenterologists, dentists, and psychologists is needed in the management of Williams syndrome, particularly in adults in the process of becoming independent.
威廉姆斯综合征患者的感染性心内膜炎（IE）通常与左侧心脏病变相关，而右侧心内膜炎很少见。这可以通过威廉姆斯综合征先天性心脏病变的自然病程来解释，在该病程中，右侧心脏病变可能会随着患者生长而自发消退。我们遇到一名29岁诊断为右侧感染性心内膜炎的患者。他的诊断符合改良的杜克标准，一项主要标准是两次血培养阳性，培养出一种革兰氏阳性菌，以及三项次要标准，即存在先天性心脏病、持续发热高于38.0℃，以及脓毒性肺栓塞的时空播散。尽管他的主动脉瓣上狭窄仍较轻，但即使成年后外周肺动脉狭窄仍在进展，基于脓毒性栓子的偏向分布，这可能归因于右侧感染性心内膜炎的发展。由于智力残疾且无法报告主观症状，严重进展的龋齿伴广泛蛀牙直到发生IE才被诊断出来。感染性心内膜炎治疗后随后发生的憩室炎难以诊断，该患者的管理变得更加复杂。随着疾病特异性病理生理学随年龄进展，成年威廉姆斯综合征患者不太可能表达主观症状，在威廉姆斯综合征的管理中，尤其是在成年且处于独立过程中的患者中，需要由心脏病专家、肾病专家、胃肠病专家、牙医和心理学家组成的医疗团队采取多学科方法。
