Congenital myopathies are mainly associated with a mild cardiac phenotype

Petri, Helle; Wahbi, Karim; Witting, Nanna; Køber, Lars; Bundgaard, Henning; Kamoun, Emna; Vellieux, Geoffroy; Stojkovic, Tanya; Béhin, Anthony; Laforêt, Pascal; Vissing, John

doi:10.1007/s00415-019-09267-3

Cited by 11 publications

(15 citation statements)

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“…Respiratory support was needed in 1 out of 3 patients and highly dependent on the causative gene: it was needed by all patients with MTM1 mutations and by roughly 70% of those with SELENON mutations. Although it should be noted that cardiac assessment in our cohort were mostly performed at children s age, a very low prevalence of cardiac involvement was found, in accordance with a recently published cohort of Danish patients with CM (Petri et al, 2019). None of our patients was diagnosed with dilated or hypertrophic cardiomyopathy or had symptoms and/or signs of heart failure.…”

Section: Discussionsupporting

confidence: 88%

The phenotype and genotype of congenital myopathies based on a large pediatric cohort

Benito

Ortez

Jou

et al. 2020

Preprint

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We report the clinical, histopathological and molecular characterization of 104 patients with congenital myopathy (CM) managed at a single center. The most common histopathological subtype was core myopathy (42%). Patients with severe endomysial fibrosis were more commonly unable to walk than patients with only a mild grade (56% vs 16%). Inability to walk was also more prevalent in patients with severe fatty replacement (44% vs 19%). The genetic etiology was more frequently identified among those patients with "specific" histologic findings (74% vs 62%). A definite molecular diagnosis was reached in 65/104 patients (62%), with RYR1 (24/104) and TTN (8/104) as the most frequent causative genes. Neonatal onset occurred in 56%. Independent ambulation was achieved by 74%. Patients who walked late were more likely to become wheelchair-dependent. Respiratory support was needed in 1/3 patients. Gastrostomy placement was required in 15%. Cardiac involvement was observed in 3%, scoliosis in 43%, and intellectual disability in 6%. This study provides an updated picture of the clinical, histopathological and molecular landscape of CMs. Independently of the causative gene, fibrosis and fatty replacement in muscle biopsy is significantly associated with clinical severity. Mutations in TTN are responsible for a higher proportion of cases than previously thought.

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Section: Discussionsupporting

confidence: 88%

The phenotype and genotype of congenital myopathies based on a large pediatric cohort

Benito

Ortez

Jou

et al. 2020

Preprint

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“…For the adult RYR1 -RM population a report of HCM and conduction/arrhythmias was provided by Petri in 2019 [ 64 ]. To the best of our knowledge, myocardial involvement in children is not discussed.…”

Section: Resultsmentioning

confidence: 99%

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Baban¹,

Lodato²,

Parlapiano

et al. 2021

Biomolecules

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Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement. In fact, childhood onset forms can predispose a person to various progressive cardiac abnormalities including cardiomyopathies (CMPs), valvulopathies, atrioventricular conduction defects (AVCD), supraventricular tachycardia (SVT) and ventricular arrhythmias (VA). In this review, we selected and described five specific NMDs: Friedreich’s Ataxia (FRDA), congenital and childhood forms of Myotonic Dystrophy type 1 (DM1), Kearns Sayre Syndrome (KSS), Ryanodine receptor type 1-related myopathies (RYR1-RM) and Laminopathies. These changes are widely investigated in adults but less researched in children. We focused on these specific topics due their relative frequency and their potential unexpected cardiac manifestations in children. Moreover these conditions present different inheritance patterns and mechanisms of action. We decided not to discuss Duchenne and Becker muscular dystrophies due to extensive work regarding the cardiac aspects in children. For each described NMD, we focused on the possible cardiac manifestations such as different types of CMPs (dilated-DCM, hypertrophic-HCM, restrictive-RCM or left ventricular non compaction-LVNC), structural heart abnormalities (including valvulopathies), and progressive heart rhythm changes (AVCD, SVT, VA). We describe the current management strategies for these conditions. We underline the importance, especially for children, of a serial multidisciplinary personalized approach and the need for periodic surveillance by a dedicated heart team. This is largely due to the fact that in children, the diagnosis of certain NMDs might be overlooked and the cardiac aspect can provide signs of their presence even prior to overt neurological diagnosis.

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“…A distal phenotype in NEB-associated nemaline myopathy and DNM2-associated centronuclear myopathy seems to be more common in late-onset CMs [133,225,226], and similarly a scapuloperoneal pattern may be also observed in late onset ACTA-1-related nemaline myopathy [142]. Cardiac involvement is generally not a great concern, as CMs are associated with a low risk of heart abnormalities, with the possible exception of some few forms, such as the MYH7and TTN-related CMs, where a regular cardiac follow-up is highly recommended [46,227]. According to AHA recommendations, a cardiac assessment should be initially performed at the time of presentation, with a follow-up depending on the presence of any abnormal finding or any suspicious symptom [228].…”

Section: Discussionmentioning

confidence: 99%

Update on Congenital Myopathies in Adulthood

Papadimas

Xirou

Kararizou

et al. 2020

IJMS

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Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood.

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Congenital myopathies are mainly associated with a mild cardiac phenotype

Cited by 11 publications

References 50 publications

The phenotype and genotype of congenital myopathies based on a large pediatric cohort

The phenotype and genotype of congenital myopathies based on a large pediatric cohort

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Update on Congenital Myopathies in Adulthood

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