Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-02-01 DOI:10.1159/000526221

Yavuz Özer, Hande Turan, Aydilek Dağdeviren Çakır, Selman Gökalp, Zeynep Ocak, Oya Ercan, Olcay Evliyaoğlu

{"title":"Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant.","authors":"Yavuz Özer, Hande Turan, Aydilek Dağdeviren Çakır, Selman Gökalp, Zeynep Ocak, Oya Ercan, Olcay Evliyaoğlu","doi":"10.1159/000526221","DOIUrl":null,"url":null,"abstract":"Introduction: Primary adrenal insufficiency associated with cardiomyopathy has been rarely reported in children. We report a case of left ventricular (LV) systolic dysfunction related to adrenal insufficiency with autoimmune polyendocrine syndrome type 1 (APS1).Case presentation: A 7-year-old girl presented with a loss of consciousness. She had hyperpigmentation over joints and enamel hypoplasia. Laboratory tests showed hypoglycemia, hyponatremia, hypocalcemia, and hyperphosphatemia. Endocrine evaluations revealed low serum parathyroid hormone, low cortisol, and high ACTH. Echocardiography showed moderate to severe mitral regurgitation and LV systolic dysfunction. Serum pro-brain natriuretic peptide (pro-BNP) level was high (2,348 pg/mL). Adrenal insufficiency, hypoparathyroidism, and enamel dysplasia suggested APS1. A novel homozygous variant in the AIRE gene, NM_000383, p.Cys322Arg (c.964T>C) confirmed the diagnosis. Calcium, calcitriol, and hydrocortisone treatments were started. Serum pro-BNP level returned to normal, and LV systolic function improved.Conclusion: Here, we present a case of adrenal insufficiency and hypoparathyroidism associated with LV systolic dysfunction whose cardiac findings improved completely with hydrocortisone and calcitriol treatments. Our case is the second reported case of APS1 presenting with LV dysfunction.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 1","pages":"65-70"},"PeriodicalIF":0.9000,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911995/pdf/msy-0014-0065.pdf","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000526221","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 1

Abstract

Introduction: Primary adrenal insufficiency associated with cardiomyopathy has been rarely reported in children. We report a case of left ventricular (LV) systolic dysfunction related to adrenal insufficiency with autoimmune polyendocrine syndrome type 1 (APS1).

Case presentation: A 7-year-old girl presented with a loss of consciousness. She had hyperpigmentation over joints and enamel hypoplasia. Laboratory tests showed hypoglycemia, hyponatremia, hypocalcemia, and hyperphosphatemia. Endocrine evaluations revealed low serum parathyroid hormone, low cortisol, and high ACTH. Echocardiography showed moderate to severe mitral regurgitation and LV systolic dysfunction. Serum pro-brain natriuretic peptide (pro-BNP) level was high (2,348 pg/mL). Adrenal insufficiency, hypoparathyroidism, and enamel dysplasia suggested APS1. A novel homozygous variant in the AIRE gene, NM_000383, p.Cys322Arg (c.964T>C) confirmed the diagnosis. Calcium, calcitriol, and hydrocortisone treatments were started. Serum pro-BNP level returned to normal, and LV systolic function improved.

Conclusion: Here, we present a case of adrenal insufficiency and hypoparathyroidism associated with LV systolic dysfunction whose cardiac findings improved completely with hydrocortisone and calcitriol treatments. Our case is the second reported case of APS1 presenting with LV dysfunction.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

自身免疫性多内分泌综合征1型伴新变异左心室收缩功能障碍与肾上腺功能不全相关1例

儿童原发性肾上腺功能不全合并心肌病的报道很少。我们报告一例左心室(LV)收缩功能障碍与肾上腺功能不全相关的自身免疫性多内分泌综合征1型(APS1)。病例介绍:一名七岁女童表现为意识丧失。关节色素沉着，牙釉质发育不全。实验室检查显示有低血糖、低钠血症、低钙血症和高磷血症。内分泌评估显示低血清甲状旁腺激素，低皮质醇，高ACTH。超声心动图显示中度至重度二尖瓣反流和左室收缩功能障碍。血清前脑利钠肽(前bnp)水平高(2,348 pg/mL)。肾上腺功能不全、甲状旁腺功能减退和牙釉质发育不良提示APS1。AIRE基因NM_000383, p.Cys322Arg (C . 964t >C)的新纯合变异证实了该诊断。开始钙、骨化三醇和氢化可的松治疗。血清bnp原水平恢复正常，左室收缩功能改善。结论:在这里，我们报告了一例肾上腺功能不全和甲状旁腺功能低下合并左室收缩功能障碍的病例，其心脏症状在氢化可的松和骨化三醇治疗后完全改善。我们的病例是第二例报告的APS1表现为左室功能障碍的病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.