scholarly journals Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report

2021 ◽  
Vol 73 (1) ◽  
Author(s):  
Soumi Das ◽  
Sandeep Seth
Keyword(s):  
Ejection Fraction ◽  
Dilated Cardiomyopathy ◽  
Age Of Onset ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Early Age ◽  
Indian Patient ◽  
Ventricular Ejection Fraction ◽  
First Case

Abstract Background Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilation and a left ventricular ejection fraction of less than 40%. Unlike hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC), DCM-causing mutations are present in a large number of genes. In the present study, we report a case of the early age of onset of DCM associated with a pathogenic variant in the RBM20 gene in a patient from India. Case presentation A 19-year-old Indian male diagnosed with DCM was suggested for heart transplantation. His ECG showed LBBB and echocardiography showed an ejection fraction of 14%. He had a sudden cardiac death. A detailed family history revealed it to be a case of familial DCM. Genetic screening identified the c.1900C>T variant in the RBM20 gene which led to a missense variant of amino acid 634 (p.Arg634Trp). Conclusion To the best of our knowledge, the variant p.Arg634Trp has been earlier reported in the Western population, but this is the first case of p.Arg634Trp in an Indian patient. The variant has been reported to be pathogenic at an early age of onset; therefore, close clinical follow-up should be done for the family members caring for the variant.

scholarly journals Analysis of the incidence and baseline predictors of the left ventricular ejection fraction returning to normal after dilated cardiomyopathy in postmenopausal women: a retrospective, observational study

2020 ◽  
Vol 48 (5) ◽  
pp. 030006052092247
Author(s):  
Xiaopin Yuan ◽  
Shuai Mao ◽  
Qizhu Tang
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Dilated Cardiomyopathy ◽  
Postmenopausal Women ◽  
Systolic Pressure ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
History Of

Objective To analyse the incidence and baseline predictors of the left ventricular ejection fraction (LVEF) returning to normal after dilated cardiomyopathy (DCM) following intervention with standard anti-heart failure (HF) medication in postmenopausal women. Methods Data from consecutive postmenopausal women who were first diagnosed with DCM and received anti-HF treatment during 2011 to 2018 were prospectively retrieved. The study population was divided into the LVEF recovery (LVR) group and the LVEF unrecovered (LVU) group according to whether LVEF was > 50%. The primary endpoint was baseline predictors of LVEF returning to normal. Results LVEF returned to normal in 49.3% (210/426) of patients with DCM. LVEF was significantly higher in the LVR group than in the LVU group (57.4% ± 6.9% vs 44.2% ± 5.3%; hazard ratio 1.312, 95% confidence interval 1.015–1.726) at the final follow-up. High systolic pressure, a short history of HF, a short QRS interval, a small left ventricular end-diastolic diameter (LVEDd), and high LVEF at admission were independent predictors of LVEF returning to normal. Conclusions LVEF returning to normal in postmenopausal women with DCM who receive standard anti-HF treatment is associated with systolic pressure, a history of HF, QRS interval, LVEDd, LVEF at admission, and favourable outcome.

P370Added value changes in signal sonr in patients with = <30% left ventricular ejection fraction

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
J J Garcia Guerrero ◽  
J Fernandez De La Concha Castaneda ◽  
A Chacon Pinero ◽  
J Garcia Fernandez ◽  
I Fernandez Lozano ◽  
...  
Keyword(s):  
Ejection Fraction ◽  
Hospital Admission ◽  
Dilated Cardiomyopathy ◽  
Interim Analysis ◽  
Cardiac Contractility ◽  
Inverse Correlation ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Lv Ejection Fraction

Abstract Abstract/Introduction Decompensated congestive heart failure (CHF) is a main and increasing health problem worldwide, which leads to patients’ bad outcomes and high money expenditure. Direct relationship between Brain Natriuretic Peptides (NT-proBNP) increasing levels and adverse clinical outcomes have been demonstrated in patients with CHF.  SonR signal sensor, a micro-accelerometer embedded in the tip of the atrial lead in patients implanted with devices, picks up cardiac muscle vibration. Its amplitude is a surrogate for cardiac contractility, which is found to be further reduced in patients with decompensated CHF. Purpose We sought to find a significant inverse correlation between SonR signal and NT-proBNP levels, in order to use SonR as a surrogate of NT-proBNP to anticipate worsening CHF leading to hospital admission. Methods AVCs SONR trial is a pilot, prospective, observational, multicentre study, in which patients with dilated cardiomyopathy, any aetiology, LV ejection fraction ≤ 30%, at least one recent (&lt; 1 year) hospital admission due to CHF, and implanted with CRT-D devices (used as dual-chamber, no left ventricular (LV) lead implanted) with SonR sensor feature, were enrolled. During a year, NT-proBNP and SonR values were obtained every month, and both levels compared (Pearson’s test) Results This an interim analysis of our data, 18 months after the first patient was enrolled. Twenty two patients and 116 data pairs were analysed. Most patients were men (91%) and had ischemic dilated cardiomyopathy (59%). Mean age was 61 (range 34-82) and mean LV ejection fraction was 27% (range 15-30). The mean Pearson’s correlation coefficient of the NT-proBNP values and the SonR signal was r = - 0.36 (95% CI -0.51 to -0.19), p &lt; 0.00006 (Figure) Conclusions The interim analysis of this study shows an inverse and very significant relationship between SonR signal and NT-proBNP values. This suggests SonR signal might be used as predictor of worsening CHF. Abstract Figure

Arrhythmic risk stratification in non-ischaemic dilated cardiomyopathy beyond ejection fraction

Heart ◽  
2020 ◽  
Vol 106 (9) ◽  
pp. 656-664 ◽  
Author(s):  
Antonio Cannatà ◽  
Giulia De Angelis ◽  
Andrea Boscutti ◽  
Camilla Normand ◽  
Jessica Artico ◽  
...  
Keyword(s):  
Ejection Fraction ◽  
Risk Stratification ◽  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Novel Approach ◽  
Magnetic Resonance Parameters ◽  
Reverse Remodelling ◽  
Life Threatening

Sudden cardiac death and arrhythmia-related events in patients with non-ischaemic dilated cardiomyopathy (NICM) have been significantly reduced over the last couple of decades as a result of evidence-based pharmacological and non-pharmacological therapeutic strategies. Nevertheless, the arrhythmic stratification in patients with NICM remains extremely challenging, and the simple indication based on left ventricular ejection fraction appears to be insufficient. Therefore, clinicians need to go beyond the current criteria for implantable cardioverter-defibrillator implantation in the direction of a multiparametric evaluation of arrhythmic risk. Several parameters for arrhythmic risk stratification, ranging from electrocardiographic, echocardiographic, imaging-derived and genetic markers, are crucial for proper arrhythmic risk stratification and a multiparametric evaluation of risk in patients with NICM. In particular, integration of cardiac magnetic resonance parameters (mostly late gadolinium enhancement) and specific genetic information (ie, presence of LMNA, PLN, FLNC mutations) appears fundamental for proper implementation of the current arrhythmic risk stratification. Finally, a novel approach focused on both arrhythmic risk and prediction of left ventricular reverse remodelling during follow-up might be useful for effective multiparametric and dynamic arrhythmic risk stratification in NICM. In the future, a complete and integrated evaluation might be mandatory to implement arrhythmic risk prediction in patients with NICM and to discriminate the competing risk between heart failure-related events and life-threatening arrhythmias.

Intramyocardial Angiogenic Cell Precursors in Nonischemic Dilated Cardiomyopathy

2009 ◽  
Vol 17 (4) ◽  
pp. 382-388 ◽  
Author(s):  
Kitipan V Arom ◽  
Permyos Ruengsakulrach ◽  
Michael Belkin ◽  
Montip Tiensuwan
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Cell Group ◽  
Control Group ◽  
Ventricular Ejection Fraction ◽  
Nonischemic Dilated Cardiomyopathy

To determine the efficacy of intramyocardial injection of angiogenic cell precursors in nonischemic dilated cardiomyopathy, 35 patients with nonischemic dilated cardiomyopathy underwent injections of angiogenic cell precursors into the left ventricle (cell group). Seventeen patients with nonischemic dilated cardiomyopathy were matched from the heart failure database to form a control group that was treated medically. Angiogenic cell precursors were obtained from autologous blood, cultured in vitro, and injected into all free-wall areas of the left ventricle in the cell group. After these injections, New York Heart Association functional class improved significantly by 1.1 ± 0.7 classes at 284.7 ± 136.2 days, and left ventricular ejection fraction improved in 71.4% of patients (25/35); the mean increase in left ventricular ejection fraction was 4.4% ± 10.6% at 192.7 ± 135.1 days. Improved quality of life was demonstrated by better physical function, role-physical, general health, and vitality domains in a short-form health survey at the 3-month follow-up. In the control group, there were no significant improvements in left ventricular ejection fraction or New York Heart Association class which increased by 0.6 ± 0.8 classes. It was concluded that intramyocardial angiogenic cell precursor injection is probably effective in the treatment of nonischemic dilated cardiomyopathy. Disclosures and Freedom of Investigation Professor Michael Belkin is an advisory board member, a minor shareholder, and receives a consulting fee from TheraVitae Co. Ltd. However, the authors had full control of the study, methods used, outcome measurements, data analysis, and production of the written report.

Sign in / Sign up

Export Citation Format

Share Document