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阿尔斯特伦综合征中的婴儿扩张型心肌病

Infantile Dilated Cardiomyopathy in Alström Syndrome.

作者信息

Van Huffel Julien, Derycke Emilien, Detaille Thierry, Moniotte Stéphane, Hubrechts Jelena

机构信息

Congenital and Pediatric Cardiology, Department of Pediatrics, University Hospital Saint-Luc, Brussels, BEL.

Pediatric Intensive Care Unit, University Hospital Saint-Luc, Brussels, BEL.

出版信息

Cureus. 2024 Dec 1;16(12):e74895. doi: 10.7759/cureus.74895. eCollection 2024 Dec.

DOI:10.7759/cureus.74895
PMID:39742192
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11686418/
Abstract

We report two cases of end-stage dilated cardiomyopathy as the initial manifestation of Alström syndrome (ALMS), in infants aged two and five months. This rare monogenic, autosomal, and recessive genetic condition is a multisystem disorder characterized by visual and hearing impairment, cardiomyopathy childhood obesity, and other anomalies. These cases highlight the importance of genetic testing targeting the ALMS1 gene in the assessment of apparently isolated dilated cardiomyopathy. We review the cardiac features of ALMS. To our knowledge, we also describe the first case of successful surgical pulmonary artery banding in ALMS.

摘要

我们报告了两例终末期扩张型心肌病作为阿尔斯特伦综合征（ALMS）初始表现的病例，患儿分别为2个月和5个月大的婴儿。这种罕见的单基因、常染色体隐性遗传病是一种多系统疾病，其特征为视力和听力障碍、心肌病、儿童肥胖及其他异常。这些病例凸显了在评估明显孤立的扩张型心肌病时针对ALMS1基因进行基因检测的重要性。我们回顾了ALMS的心脏特征。据我们所知，我们还描述了首例成功进行手术肺动脉环扎术的ALMS病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/52dd81f30404/cureus-0016-00000074895-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/867865d5bbaf/cureus-0016-00000074895-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/b17ce06f58fa/cureus-0016-00000074895-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/65bac64f380d/cureus-0016-00000074895-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/042fff730abc/cureus-0016-00000074895-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/52dd81f30404/cureus-0016-00000074895-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/867865d5bbaf/cureus-0016-00000074895-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/b17ce06f58fa/cureus-0016-00000074895-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/65bac64f380d/cureus-0016-00000074895-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/042fff730abc/cureus-0016-00000074895-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f043/11686418/52dd81f30404/cureus-0016-00000074895-i05.jpg

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Mutations in Alström protein impair terminal differentiation of cardiomyocytes.阿尔斯特伦蛋白的突变会损害心肌细胞的终末分化。
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