LMNA-related dilated cardiomyopathy

Vaikhanskaya, T; Sivitskaya, L. N.; Даниленко, Н. Г.; Давыденко, О. Г.; Kurushka, T V; Sidorenko, Irina

doi:10.1093/omcr/omu040

Cited by 11 publications

(4 citation statements)

References 8 publications

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“…In the heart, LMNA mutations cause up to 10% of dilated cardiomyopathies (DCM), [24] many coupled with progressive cardiac conduction system disease (CCD) or supraventricular arrhythmias. Prior studies indicate that conduction system disease commonly precedes DCM development by a few years to a decade or more [25] . In our study family, we found that the left and right atria of the proband were enlarged and the EF value was decreased slightly at age 53.…”

Section: Discussionsupporting

confidence: 57%

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A novel LMNA indel mutation identified in a family with atrioventricular block and atrial fibrillation

Jia

Zhang

Deng³

et al. 2021

Medicine

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It is well known that many genetic factors are involved in the occurrence and progression of atrioventricular block (AV block) and atrial fibrillation (AF). However, the genetic variants discovered so far have only explained parts of these processes. More genes and variants remain to be identified. In the present study, a three-generation family with an autosomal dominant form of AV block and AF was enrolled. Whole exome sequencing was conducted in three affected and one unaffected family member. A total of 64 nonsynonymous variants was shared by three affected individuals and not present in the unaffected individual. By selection of variants absent in the known databases and were predicted to be deleterious, 4 novel variants were identified. Only one novel frameshift insertion in the LMNA gene (c.825_826insCAGG) was identified in another affected family member and not detected in other non-affected family members and the 100 controls. Our finding expanded the spectrum of variants associated with AV block and AF, and was valuable in the genetic diagnosis of AV block and AF.

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Section: Discussionsupporting

confidence: 57%

“…Prior studies indicate that conduction system disease commonly precedes DCM development by a few years to a decade or more. [ 25 ] In our study family, we found that the left and right atria of the proband were enlarged and the EF value was decreased slightly at age 53.…”

Section: Discussionmentioning

confidence: 62%

A novel LMNA indel mutation identified in a family with atrioventricular block and atrial fibrillation

Jia

Zhang

Deng³

et al. 2021

Medicine

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“…This would lead to molecular changes in the lamin A/C structure that can decrease the mechanical stability of the muscle, which is critical during muscle contraction. Several mutations were described at this position, most associated with DCM: p.Arg190Gln, p.Arg190Trp, p.Arg190fsX22 and p.Arg190Pro [19].…”

Section: Discussionmentioning

confidence: 99%

Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort

Lorca

Junco-Vicente²,

Gómez

2022

Cardiogenetics

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In this study we performed a next generation sequencing of 210 genes in 140 patients with cardiac failure requiring a heart transplantation. We identified a total of 48 candidate variants in 47 patients. Forty-three patients (90%) presented a single variant, and fourpatients (10%) were carriers of two variants. After refining the classification, we identified a pathogenic or likely pathogenic variant in 13 patients (10% of our cohort). In 34 additional cases (25%) the variants were classified as of unknown significance (VUS). In reference to the cause of cardiac failure in the 13 carriers of pathogenic variants, 5 were of dilated non-ischemic cause, 4 hypertrophic and 1 restrictive cardiomyopathy. In the ischemic cases (n = 3) no family history of cardiac disease was recorded, while nineof the non-ischemic had other relatives who were also diagnosed. In conclusion, the NGS of a cardiac transplanted cohort identified a definite or very likely genetic cause in 10% of the cases. Most of them had a family history of cardiac disease, and were thus previously studied as part of a routine screening by a genetic counselor. Pathogenic variants in cases without a family history of cardiac disease were mainly of ischemic origin.

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“…For example, common chronic heart failure and heart failure due to a rare genetic mutation (e.g. LMNA related dilated cardiomyopathy [ 23 ]) both share symptoms including fatigue, exercise intolerance, and limitation of activities of daily life [ 24 , 25 ]. Therefore, if physical activity measured by an actigraphy device has shown to be clinically relevant to disease progression for a common chronic heart failure, it is reasonable to generate such digital endpoints to rare cardiomyopathy.…”

Section: A Road Map To Dctmentioning

confidence: 99%

Decentralized clinical trials and rare diseases: a Drug Information Association Innovative Design Scientific Working Group (DIA-IDSWG) perspective

Ghadessi

Wang

et al. 2023

Orphanet J Rare Dis

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Background Traditional clinical trials require tests and procedures that are administered in centralized clinical research sites, which are beyond the standard of care that patients receive for their rare and chronic diseases. The limited number of rare disease patients scattered around the world makes it particularly challenging to recruit participants and conduct these traditional clinical trials. Main body Participating in clinical research can be burdensome, especially for children, the elderly, physically and cognitively impaired individuals who require transportation and caregiver assistance, or patients who live in remote locations or cannot afford transportation. In recent years, there is an increasing need to consider Decentralized Clinical Trials (DCT) as a participant-centric approach that uses new technologies and innovative procedures for interaction with participants in the comfort of their home. Conclusion This paper discusses the planning and conduct of DCTs, which can increase the quality of trials with a specific focus on rare diseases.

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LMNA-related dilated cardiomyopathy

Cited by 11 publications

References 8 publications

A novel LMNA indel mutation identified in a family with atrioventricular block and atrial fibrillation

A novel LMNA indel mutation identified in a family with atrioventricular block and atrial fibrillation

Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort

Decentralized clinical trials and rare diseases: a Drug Information Association Innovative Design Scientific Working Group (DIA-IDSWG) perspective

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