Nemaline Myopathy With Dilated Cardiomyopathy in Childhood

Gatayama, Ryohei; Ueno, Koichi; Nakamura, Hideaki; Yanagi, Sadamitsu; Ueda, Hideaki; Yamagishi, Hiroyuki; Yasui, Shin

doi:10.1542/peds.2012-1139

Cited by 35 publications

(31 citation statements)

References 15 publications

(29 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…An association of rods with cardiomyopathy has been reported in less than 20 patients, all presenting general skeletal muscle involvement as primary manifestations [20]. Ten patients developed cardiac failure in adulthood, and six manifested cardiac involvement in infancy or childhood.…”

Section: Discussionmentioning

confidence: 99%

“…A molecular diagnosis was available only for three pediatric patients [18–20], all carrying dominant de novo mutations in ACTA1 . Two of them manifested hypertrophic cardiomyopathy (HCM) [18, 19], and one childhood-onset dilated cardiomyopathy [20]. Intriguingly, HCM was the revealing symptom in the patient reported by D’Amico et al [18].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

Malfatti

Böhm

Lacène

et al. 2015

JND

View full text Add to dashboard Cite

Background: Nemaline myopathies (NM) are rare and severe muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Although ten genes have been implicated in the etiology of NM, an important number of patients remain without a molecular diagnosis. Objective: Here we describe the clinical and histopathological features of a sporadic case presenting with severe NM and cardiomyopathy. Using exome sequencing, we aimed to identify the causative gene. Results: We identified a homozygous nonsense mutation in the last exon of MYO18B, leading to a truncated protein lacking the most C-terminal part. MYO18B codes for an unconventional myosin protein and it is mainly expressed in skeletal and cardiac muscles, two tissues severely affected in the patient. We showed that the mutation does not impact on mRNA stability. Immunostaining and Western blot confirmed the absence of the full-length protein. Conclusion: We propose MYO18B as a novel gene associated with nemaline myopathy and cardiomyopathy.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

Malfatti

Böhm

Lacène

et al. 2015

JND

View full text Add to dashboard Cite

show abstract

“…100 In 143 cases of nemaline myopathy, 6 neonates developed transient HF and 1 infant developed LV dysfunction with congenital long-QT syndrome. 101 In another study with 66 patients with CM, no cardiac lesions were noted 102 ; however, hypertrophic, [103][104][105] dilated, [106][107][108][109][110] and LVNC cardiomyopathy phenotypes, 111,112 as well as sudden death, 113 have been described. Recessive mutations in TTN (encoding titin) and MYH7 (encoding myosin heavy chain-7) have been associated with minicore-like disease, with early development of dilated cardiomyopathy, ventricular arrhythmias, and sudden cardiac death.…”

Section: E208mentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

211

195

View full text Add to dashboard Cite

For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. N euromuscular diseases (NMDs) encompass a broad spectrum of diagnoses with overlapping but distinct phenotypes. Common to many NMDs is cardiac involvement. Although the past 3 decades have seen marked advances in our understanding of many NMDs, significant gaps in knowledge remain on how best to approach cardiac care in these patients. For example, survival in Duchenne muscular dystrophy (DMD) has been extended through the use of glucocorticoid use and respiratory support, yet cardiac complications remain a significant cause of morbidity and mortality.1-3 To achieve further gains in care, we will need to improve our understanding of the pathophysiologies driving cardiac involvement in NMDs and advance treatments aimed at preventing the progression of heart failure (HF) and sudden death in NMDs. The recently published findings of an expert working group on cardiac involvement in DMD, which outlined key gaps in knowledge and made specific recommendations aimed at improving diagnosis and management, are a step toward this goal. 4 In this statement, we include a comprehensive overview of the major categories of NMDs with cardiac involvement. For each, a brief background of the gene defect(s), common clinical manifestations (particularly cardiac findings), and current therapies is summarized. Gaps in knowledge are highlighted, and where possible, clinical treatment suggestions are made by the expert writing group appointed by the American Heart Association to review the available literature. Selection of the writing group was performed in accordance with the American Heart Association's conflict-of-interest management policy. Participants volunteered to write sections relevant to their expertise and experience. CLINICAL STATEMENTS AND GUIDELINESconducted a general search of the literature, restricted to human subjects research published between 1980 and 2016. Drafts of each section were written and sent to the chair of the writing group for incorporation into a single document, which was then edited. The edited document was discussed electron...

show abstract

“…NM is a clinically and genetically heterogeneous disorder (10) . Pathogenic variants in ten different genes have been identified, six of them encode protein components of the muscle thin filament, while three are involved in the protein turnover in the muscle sarcomere (1) .…”

Section: Discussionmentioning

confidence: 99%

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

Akbay¹,

Özer²,

İlhan³

et al. 2019

BUCH

View full text Add to dashboard Cite

The diagnosis of the hypotonia during neonatal period is difficult. In the neonatal period, acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism should be considered in the differential diagnosis of the patients. Congenital disorders that affect nervous system can be the reason of hypotonia. Nemaline myopathy (NM) is a rare congenital myopathy, characterized with slowly progressive or nonprogressive muscle weakness and the inclusions known as nemaline rods characterized by rod-shaped structures (nemaline bodies) in muscle biopsy specimens. The disease can be presented with hypotonia, feeding problems, repeated respiratory infections, and arthrogryposis. Also, agenesis of corpus callosum (ACC) can result in an interhemispheric disconnection , neurologic problems such as mental retardation, and seizures. Unfortunately, there is no curative treatment for both of them. Herein, we report an infant who was admitted with generalized muscle weakness at the neonatal period and diagnosed as ACC with NM.

show abstract

Nemaline Myopathy With Dilated Cardiomyopathy in Childhood

Cited by 35 publications

References 15 publications

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

Contact Info

Product

Resources

About