Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dilated cardiomyopathy caused by lamin A/C gene (LMNA) mutation is complicated with atrioventricular (AV) conduction disturbances, malignant ventricular arrhythmias, and progressive severe heart failure.
|
31060954 |
2019 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sudden death and heart failure because of left ventricular dysfunction are important causes of mortality, particularly in those patients that have the LMNA mutation.
|
30518714 |
2019 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Thus, global errors in chromosomal compartmentation are not the primary pathogenic mechanism in heart failure due to lamin A/C haploinsufficiency.
|
31395619 |
2019 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Lamin A/C gene mutations can be associated with cardiac diseases, usually referred to as 'cardiolaminopathies' characterized by arrhythmic disorders and/or left ventricular or biventricular dysfunction up to an overt picture of heart failure.
|
30130999 |
2018 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The novel LMNA nonsense mutation c.544C>T causes a severe arrhythmogenic phenotype manifesting with high incidence of SCD in most patients; and in one sub-family, a distinct phenotype with fast progressing heart failure, indicating the need for early consideration of ICD-implantation and listing for heart-transplantation.
|
29947763 |
2018 |
Congestive heart failure
|
0.200 |
Biomarker
|
disease |
BEFREE |
Given the clinical impact of LMNA cardiomyopathies, understanding lamin function will fulfill a clinical need and will lead to advancement in the treatment of heart failure.
|
29432544 |
2018 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscular and electrical dysfunction of the heart, often leading to heart failure-related disability.
|
29982513 |
2018 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene are a common cause (6-8%) of dilated cardiomyopathy (DCM) leading to heart failure, a growing health care problem worldwide.
|
29702688 |
2018 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscle and electrical dysfunction of the heart, often leading to heart failure-related disability.
|
30053027 |
2018 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness.
|
29741282 |
2018 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is characterized by cardiac conduction abnormalities and left ventricular systolic dysfunction predisposing to heart failure.
|
28069793 |
2017 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cardiomyopathy caused by lamin A/C gene mutations (LMNA cardiomyopathy) is characterized by increased myocardial fibrosis, which impairs left ventricular relaxation and predisposes to heart failure, and cardiac conduction abnormalities.
|
27131347 |
2016 |
Congestive heart failure
|
0.200 |
Biomarker
|
disease |
BEFREE |
LMNA cardiomyopathy has an aggressive clinical course with higher rates of deadly arrhythmias and heart failure than most other heart diseases.
|
21810905 |
2011 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances.
|
20041886 |
2010 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
They further provide proof of principle for ERK inhibition as a therapeutic option to prevent or delay heart failure in humans with Emery-Dreifuss muscular dystrophy and related disorders caused by mutations in LMNA.
|
18927124 |
2009 |
Congestive heart failure
|
0.200 |
Biomarker
|
disease |
BEFREE |
Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation.
|
18926329 |
2008 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our in vivo and in vitro results question the relationship of causality between LMNA mutations and the development of heart failure in some DCM patients and therefore, the reliability of genetic counselling.
|
16061563 |
2005 |
Congestive heart failure
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Congestive heart failure
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|