Unknown

Dataset Information

0

Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study.

ABSTRACT: In a five-generation family carrying a novel frameshift LMNA variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities, supraventricular and ventricular arrythmias, dilated cardiomyopathy with non-infarct pattern midwall septal fibrosis, heart failure and thromboembolic complications.

SUBMITTER: Alfarih M 

PROVIDER: S-EPMC6859410 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Familial cardiomyopathy caused by a novel heterozygous mutation in the gene <i>LMNA</i> (c.1434dupG): a cardiac MRI-augmented segregation study.

Alfarih Mashael M   Syrris Petros P   Arbustini Eloisa E   Augusto João B JB   Hughes Alun A   Lloyd Guy G   Lopes Luis R LR   Moon James C JC   Mohiddin Saidi S   Captur Gabriella G  

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20190901 3

In a five-generation family carrying a novel frameshift <i>LMNA</i> variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities, supraventricular and ventricular arrythmias, dilated cardiomyopathy with non-infarct pattern midwall septal fibrosis, heart failure and thromboembolic complications. ...[more]

Similar Datasets

Unknown Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease.
| S-EPMC7447464 | biostudies-literature
Unknown Dual specificity phosphatase 4 mediates cardiomyopathy caused by lamin A/C (LMNA) gene mutation.
| S-EPMC3504766 | biostudies-literature
Unknown Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.
| S-EPMC6102856 | biostudies-literature
Unknown Cardiac inflammation in genetic dilated cardiomyopathy caused by MYBPC3 mutation.
| S-EPMC5316303 | biostudies-literature
Unknown Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
| S-EPMC3000630 | biostudies-literature
Unknown Familial hypertrophic cardiomyopathy related E180G mutation increases flexibility of human cardiac ?-tropomyosin.
| S-EPMC3455129 | biostudies-literature
Unknown Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.
| S-EPMC6779479 | biostudies-literature
Unknown Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation.
| S-EPMC2965560 | biostudies-literature
Unknown Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy.
| S-EPMC7788725 | biostudies-literature
Unknown Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.
| S-EPMC5953234 | biostudies-literature