Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance

被引：5

作者：

Choi, Sun Ah ^{[1
,2
]}

Cho, Anna ^{[3
]}

Kim, Soo Yeon ^{[1
]}

Kim, Woo Joong ^{[1
]}

Shim, Young Kyu ^{[1
]}

Lee, Jin Sook ^{[4
]}

Jang, Se Song ^{[1
]}

Lim, Byung Chan ^{[1
]}

Kim, Hunmin ^{[5
]}

Hwang, Hee ^{[5
]}

Choi, Ji Eun ^{[6
]}

Kim, Ki Joong ^{[1
]}

Kim, Man Jin ^{[7
]}

Seong, Moon-Woo ^{[7
]}

Chae, Jong-Hee ^{[1
]}

机构：

[1] Seoul Natl Univ, Coll Med, Childrens Hosp, Dept Pediat, Seoul, South Korea

[2] Dankook Univ Hosp, Dept Pediat, Cheonan, South Korea

[3] Ewha Womans Univ, Coll Med, Dept Pediat, 1071 Anyancheon Ro, Seoul 07985, South Korea

[4] Gachon Univ, Dept Pediat, Gil Med Ctr, Incheon, South Korea

[5] Seoul Natl Univ, Dept Pediat, Bundang Hosp, Seongnam, South Korea

[6] Seoul Natl Univ, Dept Pediat, Boramae Med Ctr, Seoul, South Korea

[7] Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp, Dept Lab Med, Seoul, South Korea

来源：

MUSCLE & NERVE | 2019年 / 60卷 / 06期

基金：

新加坡国家研究基金会;

关键词：

cardiac involvement; childhood-onset muscular dystrophy; dysrhythmia; lamin A/C; pediatric; LAMIN A/C GENE; CAUSE AUTOSOMAL-DOMINANT; CLINICAL CHARACTERISTICS; CONDUCTION-SYSTEM; SUDDEN-DEATH; MUTATIONS; IDENTIFICATION; INVOLVEMENT; RISK;

D O I：

10.1002/mus.26700

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Introduction The identification of LMNA-related muscular dystrophy is important because it poses life-threatening cardiac complications. However, diagnosis of LMNA-related muscular dystrophy based on clinical features is challenging. Methods We reviewed the clinical phenotypes of 14 children with LMNA variants, focusing on the cardiac function and genotypes. Results Most patients presented with motor developmental delay or gait abnormalities. Eight (57%) patients had prominent neck extensor weakness or contractures. All patients showed ankle contractures at an early stage. Regular cardiac surveillance allowed for the detection of dysrhythmias in 57% of patients at a mean age of 14 years (range, 5-26). All patients had missense variants; however, there were no clear phenotype-genotype correlations. Discussion Early diagnosis of LMNA-related muscular dystrophy provides an opportunity for cardiac surveillance, potentially leading to the prevention of cardiac mortality in children.

引用

页码：668 / 672

页数：5

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