Laminopathy presenting as familial atrial fibrillation

Beckmann, Britt Maria; Holinski‐Feder, Elke; Walter, Maggie C.; Haserück, Nadine; Reithmann, Christopher; Hinterseer, Martin; Wilde, Arthur A.M.; Kääb, Stefan

doi:10.1016/j.ijcard.2010.04.024

Cited by 16 publications

(9 citation statements)

References 7 publications

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“…Mutations in this gene have been associated with many diseases such as dilated cardiomyopathy and muscular dystrophy. 89 Beckmann et al 90 identified a heterozygous missense mutation in LMNA in a family with AF as well as SVT, VF, muscle weakness and sudden cardiac death. Just recently, Saj et al 91 found two variants in two unrelated probands with AF, one of them with episodes of AV-block, the other with reduced left ventricular contractile function (ejection fraction of 30%), left bundle branch block and family history of heart disease.…”

Section: Non-ion Channel Mutationsmentioning

confidence: 99%

Atrial fibrillation: the role of common and rare genetic variants

Olesen

Nielsen

Haunsø³

et al. 2013

Eur J Hum Genet

102

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Atrial fibrillation (AF) is the most common cardiac arrhythmia affecting 1-2% of the general population. A number of studies have demonstrated that AF, and in particular lone AF, has a substantial genetic component. Monogenic mutations in lone and familial AF, although rare, have been recognized for many years. Presently, mutations in 25 genes have been associated with AF. However, the complexity of monogenic AF is illustrated by the recent finding that both gain-and loss-of-function mutations in the same gene can cause AF. Genome-wide association studies (GWAS) have indicated that common single-nucleotide polymorphisms (SNPs) have a role in the development of AF. Following the first GWAS discovering the association between PITX2 and AF, several new GWAS reports have identified SNPs associated with susceptibility of AF. To date, nine SNPs have been associated with AF. The exact biological pathways involving these SNPs and the development of AF are now starting to be elucidated. Since the first GWAS, the number of papers concerning the genetic basis of AF has increased drastically and the majority of these papers are for the first time included in a review. In this review, we discuss the genetic basis of AF and the role of both common and rare genetic variants in the susceptibility of developing AF. Furthermore, all rare variants reported to be associated with AF were systematically searched for in the Exome Sequencing Project Exome Variant Server.

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Section: Non-ion Channel Mutationsmentioning

confidence: 99%

Atrial fibrillation: the role of common and rare genetic variants

Olesen

Nielsen

Haunsø³

et al. 2013

Eur J Hum Genet

102

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show abstract

“…The LMNA gene, mentioned above in conjunction with PCCD, encodes lamin A/C, an intermediate filament protein associated with inner nuclear membrane. A heterozygous missense mutation in LMNA have been seen in a family with AF as well as SVT, VE, muscle weakness and SCD (146). Two further variants have been identified in 2 probands with AF, one with episodes of AV block, the other with reduced LV function, LBBB and a family history of heart disease (147).…”

Section: Non-ion Channel Mutationsmentioning

confidence: 99%

Inherited Conduction Disease and Atrial Fibrillation

Martin

Lambiase

2018

Cardiovascular Genetics and Genomics

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“…So ist eine maligne Arrhythmie wahrscheinlicher, wenn eine LMNA-Mutation (Kardiolaminopathie) vorliegt, auch ▶ Abb. 2 EKG einer 33-jährigen Patientin mit ausgeprägte Familienanamnese für plötzlichen Herztod und Vorhofflimmern und grenzwertiger Ejektionsfraktion: Laminopathie [10]. ▶ Tab.…”

Section: Genetische Diagnostikunclassified