Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant

Paller, Mark S.; Martin, Cindy M.

doi:10.1002/ehf2.12294

Cited by 12 publications

(8 citation statements)

References 18 publications

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Section: Lamin A/c (Lmna)mentioning

confidence: 99%

“…Recently, Paller et al found a 1 bp deletion in exon 5 of the LMNA gene (c.835delG, p.E279RfsX201) in a RCM patient who developed additionally skeletal muscle weakness and atrial fibrillation [41]. Histology analysis revealed hypertrophy and cardiac fibrosis in the explanted myocardial tissue [41]. Beside RCM, LMNA mutations cause DCM [187], ACM [188], LVNC [189], Emery-Dreifuss muscular dystrophy (MIM, #181350) [190], familial lipodystrophy (MIM #151660) [191] and Hutchinson-Gilford progeria syndrome (HGPS, MIM #176670) [192].…”

Section: Lamin A/c (Lmna)mentioning

confidence: 99%

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Genetic Insights into Primary Restrictive Cardiomyopathy

Brodehl

Gerull²

2022

JCM

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Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction, ventricular stiffness and dilated atria. In consequence, it induces heart failure often with preserved ejection fraction and is associated with a high mortality. Since it is a poor clinical prognosis, patients with restrictive cardiomyopathy frequently require heart transplantation. Genetic as well as non-genetic factors contribute to restrictive cardiomyopathy and a significant portion of cases are of unknown etiology. However, the genetic forms of restrictive cardiomyopathy and the involved molecular pathomechanisms are only partially understood. In this review, we summarize the current knowledge about primary genetic restrictive cardiomyopathy and describe its genetic landscape, which might be of interest for geneticists as well as for cardiologists.

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Section: Lamin A/c (Lmna)mentioning

confidence: 99%

Section: Lamin A/c (Lmna)mentioning

confidence: 99%

Genetic Insights into Primary Restrictive Cardiomyopathy

Brodehl

Gerull²

2022

JCM

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“…Thus, pacemakers are much more frequently implanted than implantable cardioverter-defibrillator (ICD) in desminopathic patients. Cardiomyopathy is usually dilated, but can be sometimes hypertrophic (HCM) or restrictive (RCM) in desminopathy [ 61 ], while these forms are very rare in cardiac laminopathies [ 46 , 54 , 62 ]. In addition, desmin mutations have recently been found in a subset of patients suffering from arrhythmogenic right ventricular cardiomyopathy (ARVC) [ 63 ].…”

Section: Desminopathiesmentioning

confidence: 99%

Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins

Maggi

Mavroidis

Psarras

et al. 2021

IJMS

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Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the DES gene (OMIM *125660) and A-type lamins by the LMNA gene (OMIM *150330), have been involved in striated muscle disorders. Diseases include desmin-related myopathy and cardiomyopathy (desminopathy), which can be manifested with dilated, restrictive, hypertrophic, arrhythmogenic, or even left ventricular non-compaction cardiomyopathy, Emery–Dreifuss Muscular Dystrophy (EDMD2 and EDMD3, due to LMNA mutations), LMNA-related congenital Muscular Dystrophy (L-CMD) and LMNA-linked dilated cardiomyopathy with conduction system defects (CMD1A). Recently, mutations in synemin (SYNM gene, OMIM *606087) have been linked to cardiomyopathy. This review will summarize clinical and molecular aspects of desmin-, lamin- and synemin-related striated muscle disorders with focus on LMNA and DES-associated clinical entities and will suggest pathogenetic hypotheses based on the interplay of desmin and lamin A/C. In healthy muscle, such interplay is responsible for the involvement of this network in mechanosignaling, nuclear positioning and mitochondrial homeostasis, while in disease it is disturbed, leading to myocyte death and activation of inflammation and the associated secretome alterations.

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“…146 Mutations in all these genes are involved in DCM as well as in rare cases of ACM. [148][149][150][151] Other cytoskeletal proteins involved in DCM are desmin (DES), dystrophin (DMD), alpha-dystroglycan (DAG1), dystrobrevin (DTNA), sarcoglycan (SGCD), syntrophin (SNTA1), phospholamban (PLN), caveolin (CAV3).…”

Section: Dilated Cardiomyopathymentioning

confidence: 99%

Sudden Cardiac Death in Young Athletes: Literature Review of Molecular Basis

et al. 2020

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Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue among medical personnel, sports communities and laypersons alike, and generates significant media attention. The most frequent cause of SCD is a hidden inherited cardiomyopathy, the athletes may not even be aware of. Predictive medicine, by searching the presence of pathogenic alterations in cardiac genes, may be an integrative tool, besides the conventional ones used in cardiology (mainly electro and echocardiogram), to reach a definitive diagnosis in athletes showing signs/symptoms, even borderline, of inherited cardiomyopathy/ channelopathy, and in athletes presenting family history of SCD and/or of hereditary cardiac disease. In this review, we revised the molecular basis of the major cardiac diseases associated to sudden cardiac death and the clinical molecular biology approach that can be used to perform risk assessment at DNA level of sudden cardiac death, contributing to the early implementation of adequate therapy. Alterations can occur in ion channel genes, in genes encoding desmosomal and junctional proteins, sarcomeric and Z-disc proteins, proteins for the cytoskeleton and the nuclear envelope. The advent of next generation sequencing (NGS) technology has provided the means to search for mutations in all these genes, at the same time. Therefore, this molecular approach should be the preferred methodology for the aforementioned purpose.

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Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant

Cited by 12 publications

References 18 publications

Genetic Insights into Primary Restrictive Cardiomyopathy

Genetic Insights into Primary Restrictive Cardiomyopathy

Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins

Sudden Cardiac Death in Young Athletes: Literature Review of Molecular Basis

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