Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations.

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2024-03-12 eCollection Date: 2023-12-01 DOI:10.2478/bjmg-2023-0015
M Milojković, M Jarić, V Stojanović, N Barišić, I Kavečan
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引用次数: 0

Abstract

Salih myopathy is autosomal recessive hereditary early-onset myopathy with fatal cardiomyopathy. It is a rare and heterogeneous form of congenital titinopathies (TTN). Affected children have delayed motor development, normal mental development, and in further course dilated cardiomyopathy. Motor functions have a tendency to improve, but death occurs most often before 20 years of age due to arrhythmias. Our patient is a 2-year-old girl, born in severe perinatal asphyxia, with global hypotonia and poor spontaneous movements. She required immediate endotracheal intubation and mechanical ventilation was initiated without the possibility of cessation. Improvement in her neurological status was not observed. Due to her clinical presentation, we performed genetic testing and a diagnosis of Salih myopathy caused by combination of two heterozygous TTN mutations was confirmed. This case illustrates that Salih myopathy may have severe presentation from birth, with continuous necessity for mechanical ventilation, without any motor improvement.

两种杂合子 TTN 基因突变组合导致的严重萨利赫肌病
萨利赫肌病是一种常染色体隐性遗传性早发型肌病,伴有致命的心肌病。它是先天性钛核病(TTN)中一种罕见的异质性疾病。患儿运动发育迟缓,智力发育正常,进一步发展为扩张型心肌病。运动功能有改善的趋势,但多在 20 岁前因心律失常而死亡。我们的患者是一名两岁女童,出生时围产期严重窒息,全身肌张力低下,自主运动能力差。她需要立即进行气管插管,并开始机械通气,但不能停止。她的神经系统状况未见好转。鉴于她的临床表现,我们对她进行了基因检测,结果确诊她患有由两个杂合 TTN 突变组合引起的萨利赫肌病。本病例说明,萨利赫肌病可能从出生开始就有严重的表现,需要持续进行机械通气,但运动状况没有任何改善。
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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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