scholarly journals 2069 Assessment of genetic dilated cardiomyopathy in LMNA-mutation carriers by cardiac MRI

2008 ◽  
Vol 10 (S1) ◽  
Author(s):  
Kristel M Antila ◽  
Juha R Koikkalainen ◽  
Jyrki MP Lötjönen ◽  
Tiina Heliö ◽  
Sari M Kivistö ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Cardiac Mri ◽  
Lmna Mutation ◽  
Mutation Carriers

LMNA mutation in a patient with progeroid features and dilated cardiomyopathy

2021 ◽  
Vol 132 ◽  
pp. S108-S109
Author(s):  
Katherine Mascia ◽  
Kirstin Smith ◽  
Maria Descartes
Keyword(s):  
Dilated Cardiomyopathy ◽  
Lmna Mutation

scholarly journals Correlation between Echocardiography and MRI in Volumetric Analysis of Dilated Cardiomyopathy - A Cross-Sectional Study from Puttaparthi, Andhra Pradesh

2021 ◽  
Vol 8 (19) ◽  
pp. 1391-1396
Author(s):  
Kushal Singh ◽  
Anshita Singh ◽  
Piyush Piyush
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Stroke Volume ◽  
Dilated Cardiomyopathy ◽  
Cardiac Mri ◽  
Andhra Pradesh ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Resonance Imaging ◽  
Cross Sectional

BACKGROUND Echocardiography is considered as a traditional approach to clinically study dilated cardiomyopathy. Because of poor apical visibility, however, volumetric calculations are difficult to ascertain. In calculating left ventricle volumes and ejection fractions, magnetic resonance (MR) imaging has shown to be more accurate than echocardiography. Due to conflicting literature, the present study was conducted to diagnose dilated cardiomyopathy using 2 D - echocardiography and correlate these echocardiographic findings with magnetic resonance imaging (MRI). METHODS This observational cross-sectional study was conducted in the Department of Radio-diagnosis and Imaging, Sri Sathya Sai Institute of Higher Medical sciences, Puttaparthi, Andhra Pradesh, Pin 515134. The study group consisted of consecutive patients who had clinical suspicion of dilated cardiomyopathy. A total of 40 patients underwent both 2 D - echo and cardiac MRI on the same day. All patients underwent 2 - D echo which was performed at the frame rate of 40 - 80 frames per second in the left lateral decubitus position to obtain standard 2, 3, and 4 chambers as well as short axis views (GE Vingmed Vivid 7 Dimensions, Horton, Norway: 2.5 MHz transducer). MRI was performed on a 1.5 T scanner (Mangnetom Aera, Siemens, Erlangen, Germany). For patient monitoring and cardiac synchronization, 3 - lead electrocardiography was used. RESULTS In the present study, in comparison to reference standard (cardiac MRI), 2 D - echocardiography showed significant and systematic underestimation of enddiastolic volume (EDV), end-systolic volume (ESV) and stroke volume (SV). Good correlation between 2 D - echo and cardiac MRI was noted for end-diastolic volume (r = 0.89), stroke volume (r = 0.60) and ejection fraction (r = 0.75). CONCLUSIONS In summary, magnetic resonance imaging is an accurate, non-invasive, safe and advanced modality for evaluation of global left ventricular function and myocardial scarring. 2 D - echocardiography can be used for screening of the patients with clinically suspected dilated cardiac myopathy (DCM) and their follow up. KEYWORDS Echocardiography, MRI, Cardiomyopathy

scholarly journals Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

2020 ◽  
Vol 9 (5) ◽  
pp. 1443 ◽  
Author(s):  
Przemyslaw Chmielewski ◽  
Ewa Michalak ◽  
Ilona Kowalik ◽  
Maria Franaszczyk ◽  
Malgorzata Sobieszczanska-Malek ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Laboratory ◽  
Troponin T ◽  
Multivariable Analysis ◽  
High Sensitivity ◽  
Cardiac Biomarkers ◽  
Lamin A ◽  
Lmna Mutation ◽  
Mutation Carriers

Mutations in the lamin A/C gene are variably phenotypically expressed; however, it is unclear whether circulating cardiac biomarkers are helpful in the detection and risk assessment of cardiolaminopathies. We sought to assess (1) clinical characteristics including serum biomarkers: high sensitivity troponin T (hsTnT) and N-terminal prohormone brain natriuretic peptide (NT-proBNP) in clinically stable cardiolaminopathy patients, and (2) outcome among pathogenic/likely pathogenic lamin A/C gene (LMNA) mutation carriers. Our single-centre cohort included 53 patients from 21 families. Clinical, laboratory, follow-up data were analysed. Median follow-up was 1522 days. The earliest abnormality, emerging in the second and third decades of life, was elevated hsTnT (in 12% and in 27% of patients, respectively), followed by the presence of atrioventricular block, heart failure, and malignant ventricular arrhythmia (MVA). In patients with missense vs. other mutations, we found no difference in MVA occurrence and, surprisingly, worse transplant-free survival. Increased levels of both hsTnT and NT-proBNP were strongly associated with MVA occurrence (HR > 13, p ≤ 0.02 in both) in univariable analysis. In multivariable analysis, NT-proBNP level > 150 pg/mL was the only independent indicator of MVA. We conclude that assessment of circulating cardiac biomarkers may help in the detection and risk assessment of cardiolaminopathies.

scholarly journals The LMNA Mutation R321X Associated with Dilated Cardiomyopathy Leads to Reorganization of the Endoplasmic Reticulum and Aberrant Ca 2+ Signaling in HEK 293 Cells

2015 ◽  
Vol 29 (S1) ◽  
Author(s):  
Andrea Gerbino ◽  
Monica Carmosino ◽  
Francesca Del Vecchio ◽  
Silvia Torretta ◽  
Giorgia Schena ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Dilated Cardiomyopathy ◽  
Hek 293 ◽  
Hek 293 Cells ◽  
Lmna Mutation ◽  
293 Cells

Abstract 11990: LMNA Cardiomyopathy Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Koichi Kato ◽  
Seiko Ohno ◽  
Takeru Makiyama ◽  
Minoru Horie
Keyword(s):  
Right Ventricular ◽  
Genetic Screening ◽  
Clinical Characteristics ◽  
Age Of Onset ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Study Cohort ◽  
Inherited Disease ◽  
Ventricular Cardiomyopathy ◽  
Lmna Mutation ◽  
Mutation Carriers

Background and Objectives: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by RV dilatation and ventricular arrhythmias. Desmosomal gene mutations are the major cause of ARVC. LMNA mutations have been known to lead dilated cardiomyopathy, other systemic diseases, and more recently, ARVC. In this study, we performed extensive genetic screening for LMNA in ARVC patients and assessed the clinical characteristics of patients with LMNA mutations. Methods: Study cohort consisted of 57 ARVC probands (definite; 45). Coding exons of LMNA, 4 desmosomal protein genes (PKP2, DSP, DSG2, DSC), and also 3 long QT syndrome related genes (KCNQ1, KCNH2, SCN5A) were amplified and sequenced by using illumina next generation sequencer. Clinical characteristics of LMNA mutation carriers and those of desmosomal mutation carriers were compared by using student t test. Results: Among 57 clinically-diagnosed ARVC probands, we identified desmosomal mutations in 32 probands (56.1%) and two LMNA mutations in two probands. The first LMNA mutation, p.M1K was detected in 62-year-old male, and the second one, p.W514X was in 70-year-old male. Both patients showed RV dilatation, non-sustained ventricular tachycardia, and complete atrioventricular block. His younger brother also died from ARVC. The proband’s daughter and son, who are currently in their 30s, have the same M1K mutation, however, have not had any signs of ARVC yet. In the family member with W514X mutant, the proband’s father suddenly died in his 40s and 45-year-old daughter who had the same W514X mutation, showed RV dilatation and brady-AF. In probands with LMNA mutations compared to those with desmosomal mutations, the age of onset was significantly older (38.6±18.1 vs 60.0±2.8), and their heart rate was significantly slower (61.1±12.5 vs 47±1.4). Both probands with LMNA mutations underwent pacemaker therapy, which is rare in patients with desmosomal mutations (2/2 vs 1/32 ). In family members with LMNA mutations, none of mutation carriers had showed ARVC until their 50s. Conclusion: Our patients with LMNA mutations developed ARVC with bradyarrhythmia after age of 50. Genetic screening for LMNA gene is important for ARVC, especially in cases with bradycardia.

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