scholarly journals Fully penetrant genetic mutation results in wide familial variability: a cardiac magnetic resonance focused report

2021 ◽  
Vol 31 (1) ◽  
pp. 129-135
Author(s):  
Maria Livia Iovanescu ◽  
Andreea Sorina Marcu ◽  
Cristian Militaru ◽  
Octavian Istratoaie ◽  
Ioana Gheonea ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Genetic Testing ◽  
Magnetic Resonance ◽  
Ejection Fraction ◽  
Systolic Dysfunction ◽  
Interventricular Septum ◽  
Genetic Mutation ◽  
Left Ventricular ◽  
Cine Imaging ◽  
Lv Ejection Fraction

Dilated cardiomyopathy (DCM) is a myocardial disorder characterized by ventricular dilation (LV or biventricular) and systolic dysfunction, with a broad etiological spectrum, comprising numerous genetic and non-genetic causes. Cardiac magnetic resonance (CMR) has become an important tool in guiding the etiological diagnosis in DCM. We present the case of a 37-years old man admitted to our department in order to investigate the diagnosis of DCM using CMR. Cine imaging showed mild left ventricular (LV) dilatation and moderate systolic (LV ejection fraction = 42%) dysfunction, but also apical hypertrabeculation meeting the criteria for non-compaction and late gadolinium enhancement (LGE) images revealed mid-wall fibrosis in the basal and midventricular segments of the inferior interventricular septum (IVS) – typical of non-ischemic DCM. Complete family history revealed the diagnosis of DCM in the mother of the patient and in the maternal grandfather, who had died at 87. After genetic testing of the index patient showed a pathogenic mutation in the TTN (titin) gene (c.79273A>T), cascade genetic testing followed, for his mother, sister, uncle and two cousins who all came back positive for the same mutation. CMR examination of the mother done 6 years prior demonstrated severe LV dilatation and systolic dysfunction (LV ejection fraction = 23%), LV non-compaction and mid-wall IVS fi brosis. CMR examination was performed for the other members of the family and discovered pathological findings in the uncle (normal LV volume and function, but focal mid-wall fi brosis in the inferior IVS) and the male cousin (LV non- compaction), while the female cousin had a normal exam. Using CMR and genetic testing, this case report proves the phenotypic heterogenicity of a completely penetrant titin mutation in the same family. Moreover, CMR is shown to be essential in DCM evaluation, having the ability to guide etiologic diagnosis and to detect alterations such as fibrosis and non-compaction in the absence of LV dilation or dysfunction.

scholarly journals Left Ventricular Magnetic Resonance Imaging Strain Predicts the Onset of Duchenne Muscular Dystrophy–Associated Cardiomyopathy

2020 ◽  
Vol 13 (11) ◽  
Author(s):  
Saira Siddiqui ◽  
Tarek Alsaied ◽  
Sarah E. Henson ◽  
Janvi Gandhi ◽  
Priyal Patel ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Ejection Fraction ◽  
Radial Strain ◽  
Left Ventricular ◽  
3 Dimensional ◽  
Lv Dysfunction ◽  
Lv Ejection Fraction

Background: Early detection of left ventricular (LV) dysfunction before the onset of overt Duchenne muscular dystrophy–associated cardiomyopathy (DMDAC) may direct clinical management to slow onset of dysfunction. We aimed to assess whether LV strain will predict those who develop DMDAC. Methods: We performed a single center retrospective case control study of patients with Duchenne muscular dystrophy who underwent serial cardiac magnetic resonance between 2006 and 2019. Patients with Duchenne muscular dystrophy with an LV ejection fraction ≥55% on ≥1 cardiac magnetic resonance were identified and grouped into age-matched +DMDAC and –DMDAC. Within 3 years, +DMDAC had a subsequent cardiac magnetic resonance with a decline in LV ejection fraction ≥10% and absolute LV ejection fraction ≤50%. −DMDAC maintained an LV ejection fraction ≥55% on serial cardiac magnetic resonances. Two-dimensional and 3-dimensional global radial strain, global circumferential strain (GCS), and global longitudinal strain were measured using tissue tracking software and their ability to predict DMDAC onset was assessed. Multivariable analysis adjusted for late gadolinium enhancement. Results: Thirty +DMDAC and 30 age-matched −DMDAC patients were included with a total of 164 studies analyzed. Before DMDAC onset, 2-dimensional global radial strain and GCS were significantly worse in +DMDAC compared with −DMDAC (25.1±6.0 versus 29.0±6.3, P =0.011; −15.4%±2.4 versus −17.3%±2.6, P =0.003). Three-dimensional GCS and global radial strain had similar findings. Among strain measures, 3-dimensional GCS had the highest area under the curve to predict DMDAC in our cohort. These findings persisted after adjusting for the presence of late gadolinium enhancement. Conclusions: Reduced global radial strain and GCS may predict those at risk for developing DMDAC before onset of LV dysfunction and its clinical utility warrants further exploration.

scholarly journals Left Ventricular Deformation in Patients with Connective Tissue Disease: Evaluated by 3.0T Cardiac Magnetic Resonance Tissue Tracking

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Jin Wang ◽  
Ke Shi ◽  
Hua-yan Xu ◽  
Qin Zhao ◽  
Xi Liu ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Connective Tissue ◽  
Ejection Fraction ◽  
Connective Tissue Disease ◽  
Left Ventricular ◽  
Lv Function ◽  
Peak Strain ◽  
Apical Slice ◽  
Lv Ejection Fraction

AbstractThe aim of this study was to assess left ventricular (LV) myocardial strain in patients with connective tissue disease (CTD) and compare LV deformation between subgroups of idiopathic inflammatory myopathy (IIM) and non-IIM. Ninety-eight patients with CTD, comprising 56 with IIM and 42 with non-IIM, and 30 healthy subjects were enrolled and underwent 3.0T cardiac magnetic resonance imaging (MRI) scanning. The LV function and strain parameters were measured and assessed. Our result revealed that CTD patients had preserved LV ejection fraction (60.85%) and had significantly decreased global and regional peak strain (PS) in radial, circumferential, and longitudinal directions (all p < 0.05). IIM patients showed significantly reduced global longitudinal PS (GLPS) and longitudinal PS at apical slice, whereas all strain parameters decreased in non-IIM patients. Except GLPS and longitudinal PS at apical slice, all strain parameters in non-IIM patients were lower than those in IIM patients. By Pearson’s correlation analysis, the LV global radial and circumferential PS were correlated to N-terminal pro-brain natriuretic peptide level and LV ejection fraction in both IIM and non-IIM patients. This study indicated that CTD patients showed abnormal LV deformation despite with preserved LVEF. The impairment of LV deformation differed between IIM and non-IIM patients.

scholarly journals Cardiac Abnormalities in Acromegaly Patients: A Cardiac Magnetic Resonance Study

2020 ◽  
Vol 2020 ◽  
pp. 1-10
Author(s):  
Xiaopeng Guo ◽  
Jian Cao ◽  
Peijun Liu ◽  
Yihan Cao ◽  
Xiao Li ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Ventricular Hypertrophy ◽  
Disease Duration ◽  
Systolic Dysfunction ◽  
Interventricular Septum ◽  
Left Ventricular ◽  
Cardiac Abnormalities ◽  
Lv Mass ◽  
Male Patients

Cardiac abnormalities are the most common and deadly comorbidities of acromegaly. Assessments using cardiac magnetic resonance (CMR) imaging in acromegaly patients are rare. We aimed to evaluate the frequencies of left ventricular hypertrophy (LVH), interventricular septum hypertrophy (IVSH), LV systolic dysfunction (LVSD), right ventricular systolic dysfunction (RVSD), and myocardial fibrosis (MCF) and detailed quantitative parameters in acromegaly patients using CMR and analyze their correlations with clinical features. Sixty-one patients were enrolled in this study. The rates of LVH, IVSH, LVSD, RVSD, and MCF were 26.2%, 27.9%, 8.2%, 9.8%, and 14.8%, respectively. The average LV mass, LV mass index, IVS thickness, LV and RV free wall thickness, and LV and RV ejection fractions were 114.4 g, 60.0 g/m2, 9.6 mm, 7.2 mm, 2.9 mm, 59.9%, and 56.6%, respectively. The LV mass index was larger (68.9 ± 26.0 vs. 48.8 ± 10.6 g/m2), the IVS was thicker (10.3 ± 2.8 vs. 8.8 ± 1.8 mm), and the LV (57.6 ± 12.3% vs. 62.8 ± 4.8%) and RV ejection fractions (54.6 ± 8.7% vs. 59.2 ± 5.9%) were lower in male patients than in female patients (all p<0.05). Age, body mass index (BMI), disease duration, and hypertension were associated with cardiac abnormalities (all p<0.05). In conclusion, structural and functional cardiac abnormalities can be comprehensively evaluated by CMR in acromegaly patients. Gender greatly affects the presence of cardiac abnormalities. Age, BMI, disease duration, and hypertension but not GH or IGF-1 levels are associated clinical factors.

P5266Renal denervation improves diastolic dysfunction in patients with HFpEF - initial results of a multicenter CMR study

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
S Zamani ◽  
F Mahfoud ◽  
L Stoiber ◽  
M Boehm ◽  
B Pieske ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Ejection Fraction ◽  
Resistant Hypertension ◽  
Renal Denervation ◽  
Myocardial Function ◽  
Left Ventricular ◽  
Cine Mri ◽  
Preserved Ejection Fraction

Abstract Introduction Renal denervation (RDN) significantly reduces blood pressure (BP) and improves myocardial function in patients with resistant hypertension. Purpose This multicenter study aimed to investigate the intermediate term effect of RDN on left ventricular global longitudinal strain (GLS), a surrogate for diastolic myocardial function in RDN patients with proven heart failure with preserved ejection fraction (HFpEF), assessed by cardiac magnetic resonance imaging (CMR). Methods We analyzed data from 22 patients with resistant hypertension (mean age 68±6 years). 16 patients underwent renal denervation (RDN) and 6 matched control patients received optimal medical therapy (OMT). Both groups had diastolic dysfunction defined by preserved ejection fraction (EF ≥50%) and pathologically elevated GLS at baseline (GLS >−18%) quantified by cardiac magnetic resonance (CMR). A standardized CMR protocol was performed at baseline (BL) and 6 months follow-up (FU). Left ventricular mass index (LVMI) was quantified in end-diastolic and end-systolic endo- and epicardial contouring in short axis cine-MRI images. GLS was measured by end-diastolic and end-systolic endocardial contouring in 2-, 3- and 4-chamber view cine-MRI images. MRI-Images have been analyzed with Medis, Netherlands. Results GLS following RDN patients significantly improved after 6 months by 21% (−14.21% ±3.19 vs. −17.17%± 3.1; p=0.007). In control patients with OMT, no significant change in GLS was detected (−14.77% ±3.05 vs. −17.39% ± 4.49; p=0.327). LVMI was numerically reduced in the RDN group at follow-up but did not reach statistical significance (58.55 g/m2±11.37 vs. 55.46 g/m2±12.76; p=0.085). There was no such effect in control patients with OMT (49.25 g/m2±8.2 vs. 50.18 g/m2±7.27; p=0.665). (See also: Figure A and B). Conclusions We found significantly improved diastolic function (GLS) in patients with HFpEF and resistant hypertension undergoing RDN. Future studies are needed to determine whether RDN represents a treatment option in patients with HFpEF.

scholarly journals Measurement of Ejection Fraction by Cardiac Magnetic Resonance Imaging and Echocardiography to Monitor Doxorubicin-Induced Cardiotoxicity

2019 ◽  
Vol 29 (01) ◽  
pp. 045-051 ◽  
Author(s):  
Tahir Tak ◽  
Camilla M. Jaekel ◽  
Shahyar M. Gharacholou ◽  
Marshall W. Dworak ◽  
Scott A. Marshall
Keyword(s):  
Breast Cancer ◽  
Magnetic Resonance Imaging ◽  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Ejection Fraction ◽  
Cardiac Magnetic Resonance Imaging ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Resonance Imaging ◽  
Significant Difference

AbstractDoxorubicin is a standard treatment option for breast cancer, lymphoma, and leukemia, but its benefits are limited by its potential for cardiotoxicity. The primary objective of this study was to compare cardiac magnetic resonance imaging (CMRI) versus echocardiography (ECHO) to detect a reduction in left ventricular ejection function, suggestive of doxorubicin cardiotoxicity. We studied eligible patients who were 18 years or older, who had breast cancer or lymphoma, and who were offered treatment with doxorubicin with curative intent dosing of 240 to 300 mg/m2 body surface area between March 1, 2009 and October 31, 2013. Patients underwent baseline CMRI and ECHO. Both imaging studies were repeated after four cycles of treatment. Ejection fraction (EF) calculated by both methods was compared and analyzed with the inferential statistical Student's t test. Twenty-eight eligible patients were enrolled. Two patients stopped participating in the study before undergoing baseline CMRI; 26 patients underwent baseline ECHO and CMRI. Eight of those 26 patients declined posttreatment studies, so the final study population was 18 patients. There was a significant difference in EF pre- and posttreatment in the CMRI group (p = 0.009) versus the ECHO group that showed no significant differences in EF (p = NS). It appears that CMRI is superior to ECHO for detecting doxorubicin-induced reductions in cardiac systolic function. However, ECHO is less expensive and more convenient for patients because of its noninvasive character and bedside practicality. A larger study is needed to confirm these findings.

Sign in / Sign up

Export Citation Format

Share Document