一例罕见的病例报告与普拉德-威利综合征的婴儿表现为扩张性心肌病和反复充血性心力衰竭

IF 0.8 Q4 PEDIATRICS

PROGRESS IN PEDIATRIC CARDIOLOGY Pub Date : 2025-06-06 DOI:10.1016/j.ppedcard.2025.101848

Naimisha Yenduri , Navaneetha Sasikumar , Hisham Ahamed , Dhanya Yesodharan , Raman Krishna Kumar

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引用次数: 0

摘要

一例7个月大的女婴因扩张型心肌病复发性心力衰竭住院。该婴儿有多种相关合并症，包括甲状腺功能减退、整体发育迟缓、发育迟缓、复发性下呼吸道感染和喂养困难。她被诊断为Prader-Willi综合征（PWS），原因是单体15q11.2q13.1。虽然扩张型心肌病（DCM）在成人PWS中有报道，但据我们所知，其在儿科人群中的发生，特别是在婴儿期，尚未有文献记载。本病例提示DCM可能与儿童PWS有关。它强调了DCM如何使PWS的管理复杂化，并说明了遗传、心脏、发育和代谢因素的相互作用，强调了多学科方法的必要性。

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A rare case report of an infant with Prader-Willi syndrome presenting with dilated cardiomyopathy and recurrent congestive heart failure

A seven-month-old baby girl presented with recurrent heart failure hospitalizations from dilated cardiomyopathy. The baby had multiple associated co-morbidities, including hypothyroidism, global developmental delay, failure to thrive, recurrent lower respiratory tract infections, and feeding difficulties. She was diagnosed with Prader-Willi syndrome (PWS) due to monosomy 15q11.2q13.1. While dilated cardiomyopathy (DCM) has been reported in adults with PWS, to our knowledge, its occurrence in the pediatric population, particularly during infancy, has not been documented. This case suggests that DCM could be associated with PWS in children. It highlights how DCM complicates the management of PWS and illustrates the interplay of genetic, cardiac, developmental, and metabolic factors, emphasizing the need for a multidisciplinary approach.

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来源期刊

PROGRESS IN PEDIATRIC CARDIOLOGY PEDIATRICS-

CiteScore

0.90

自引率

11.10%

发文量

审稿时长

75 days

期刊介绍： Progress in Pediatric Cardiology is an international journal of review presenting information and experienced opinion of importance in the understanding and management of cardiovascular diseases in children. Each issue is prepared by one or more Guest Editors and reviews a single subject, allowing for comprehensive presentations of complex, multifaceted or rapidly changing topics of clinical and investigative interest.