scholarly journals Serum autotaxin level predicts future cardiac events in patients with dilated cardiomyopathy

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
T Araki ◽  
T Okumura ◽  
T Mizutani ◽  
Y Kimura ◽  
S Kazama ◽  
...  
Keyword(s):  
Survival Analysis ◽  
Dilated Cardiomyopathy ◽  
Volume Fraction ◽  
Left Ventricular ◽  
Cox Proportional Hazards ◽  
Left Ventricular Ejection ◽  
Myocardial Inflammation ◽  
Prognostic Impact ◽  
Cardiac Events ◽  
Ventricular Ejection Fraction

Abstract Background Autotaxin (ATX) has been reported to promote myocardial inflammation and subsequent cardiac remodeling through lysophosphatidic acid (LPA) production. However, the prognostic impact of ATX has not been clarified in dilated cardiomyopathy (DCM). Purpose We aimed to investigate the prognostic impact of ATX in patients with DCM. Methods We enrolled 104 DCM patients (49.8 years, 76 males). The subjects underwent blood sampling, echocardiography, cardiac catheterization, and endomyocardial biopsy. Gender differences in serum ATX levels have been reported, thus we divided the subjects into two groups using median serum ATX levels for men and women: High-ATX group and Low-ATX group. All patients were followed up by expert cardiologists. The cardiac event was defined as a composite of cardiac death and hospitalization for worsening heart failure. Results Eighty-nine percent of the subjects were classified as New York Heart Association functional class I or II. Female patients had higher serum ATX levels than male patients, with median values of 257.0 ng/mL and 203.5 ng/mL, respectively (Figure A). The average left ventricular ejection fraction and brain natriuretic peptide levels were 30.6% and 122.5 pg/mL. In survival analysis, cumulative event-free probability was significantly lower in High ATX group (p=0.007, Figure B). In Cox proportional hazards analysis, High-ATX was one of the independent predictors of composite cardiac events (Hazards Ratio, 2.575; p=0.043). On the other hand, high sensitive C-reactive protein and collagen volume fraction in myocardial samples were not significant predictors. Conclusion High serum ATX level was associated with poor prognosis in patients with DCM. FUNDunding Acknowledgement Type of funding sources: None. Gender difference in autotaxin levels Survival analysis of cardiac events

Abstract 14515: The Prognostic Impact of Human Epididymis Protein 4 Levels in Patients With Dilated Cardiomyopathy

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Takahiro OKUMURA ◽  
Hideo Oishi ◽  
Yuki Kimura ◽  
Takashi Araki ◽  
Takashi Mizutani ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Volume Fraction ◽  
Interstitial Fibrosis ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Prognostic Impact ◽  
Cardiac Events ◽  
Body Protein ◽  
Ventricular Ejection Fraction ◽  
Activated Fibroblasts

Introduction: Interstitial fibrosis of myocardium is an important component of cardiac dysfunction. Myofibroblasts, which are activated fibroblasts, contribute to interstitial fibrosis in dilated cardiomyopathy (DCM). Recently, human epididymal body protein 4 (HE4) has attracted attention as a marker specific to myofibroblasts. Hypothesis: We hypothesized that the circulating serum HE4 levels were associated with future cardiac events in DCM. Methods: We enrolled 44 DCM patients with stable heart failure (HF) condition. Patients with cancer were excluded. We collected blood samples from peripheral vain (PV), ascending aorta (Ao), and coronary sinus (CS) during cardiac catheterization. They were divided into two groups at the median of PV HE4 levels: High PV group (>69 pmol/L); n=22, Low PV group (<69 pmol/L); n=22. Furthermore, they were also divided into groups with median of CS-Ao HE4 levels: High CS-Ao group (>-0.15 pmol/L); n=22, Low CS-Ao group (<-0.15 pmol/L); n=22. Cardiac events were defined as composite of cardiac deaths and hospitalization for worsening HF. Results: The mean age, left ventricular ejection fraction (LVEF), and plasma BNP level were 56 years, 32%, and 205 pg/mL. Between two groups, there were no significant differences in age, gender, LVEF, left ventricular end-diastolic diameter, cardiac index, and pulmonary capillary wedge pressure. However, estimated glomerular filtration rate was significantly lower in the High PV group (p=0.025). Survival analysis revealed that the High PV group had a higher rate of cardiac events ( Figure ). However, there was no difference between two CS-Ao groups. As for the pathological analysis, not only the peripheral HE4 level but CS-Ao HE4 level did not significantly correlate with collagen volume fraction in biopsy samples. Conclusion: Elevated circulating HE4 is associcated with poor prognosis in ambulatory patients with NIDCM. However, transcardiac gradient of plasma HE4 level might not be associated.

Prognostic impact of multiple fragmented QRS on cardiac events in idiopathic dilated cardiomyopathy

EP Europace ◽  
2020 ◽  
Author(s):  
Kyohei Marume ◽  
Teruo Noguchi ◽  
Tsukasa Kamakura ◽  
Emi Tateishi ◽  
Yoshiaki Morita ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Cox Regression ◽  
Left Ventricular ◽  
Idiopathic Dilated Cardiomyopathy ◽  
Left Ventricular Ejection ◽  
Prognostic Impact ◽  
Cardiac Events ◽  
Ventricular Ejection Fraction ◽  
Fragmented Qrs ◽  
Kaplan Meier

Abstract Aims  To evaluate the prognostic impact of fragmented QRS (fQRS) on idiopathic dilated cardiomyopathy (DCM). Methods and results  We conducted a prospective observational study of 290 consecutive patients with DCM (left ventricular ejection fraction ≤ 40%) and narrow QRS who underwent cardiac magnetic resonance. We defined fQRS as the presence of various RSR′ patterns in ≥2 contiguous leads representing the anterior (V1–V5), inferior (II, III, and aVF), or lateral (I, aVL, and V6) myocardial segments. Multiple fQRS was defined as the presence of fQRS in ≥2 myocardial segments. Patients were divided into three groups: no fQRS, single fQRS, or multiple fQRS. The primary endpoint was a composite of hard cardiac events consisting of heart failure death, sudden cardiac death (SCD), or aborted SCD. The secondary endpoints were all-cause death and arrhythmic event. During a median follow-up of 3.8 years (interquartile range, 1.8–6.2), 31 (11%) patients experienced hard cardiac events. Kaplan–Meier analysis showed that the rates of hard cardiac events and all-cause death were similar in the single-fQRS and no-fQRS groups and higher in the multiple-fQRS group (P = 0.004 and P = 0.017, respectively). Multivariable Cox regression identified that multiple fQRS is a significant predictor of hard cardiac events (hazard ratio, 2.23; 95% confidence interval, 1.07–4.62; P = 0.032). The multiple-fQRS group had the highest prevalence of a diffuse late gadolinium enhancement pattern (no fQRS, 21%; single fQRS, 22%; multiple fQRS, 39%; P &lt; 0.001). Conclusion  Multiple fQRS, but not single fQRS, is associated with future hard cardiac events in patients with DCM.

Abstract 13785: Left Ventricular Contractile Entropy in 99mTc-Sestamibi SPECT is a Novel Prognostic Predictor in Patients with Non-ischemic Dilated Cardiomyopathy

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Naoaki Kano ◽  
Takahiro Okumura ◽  
Akinori Sawamura ◽  
Naoki Watanabe ◽  
Hiroaki Mori ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Sampling Point ◽  
Cardiac Events ◽  
Ventricular Ejection Fraction ◽  
Qrs Duration ◽  
Non Ischemic Dilated Cardiomyopathy ◽  
The Mean ◽  
99Mtc Sestamibi

Background: It has been reported that mechanical dispersion of myocardial contraction is increased in failing myocardium. However little is known about the association between contractile entropy evaluated by myocardial scintigraphy and prognosis in patients with non-ischemic dilated cardiomyopathy (NIDCM). Purpose: We aimed to investigate the prognostic value of contractile entropy in patients with NIDCM. Methods: Forty-seven patients (38 male, 55.1 years) with NIDCM were performed gated 99mTc-sestamibi myocardial perfusion SPECT (GMPS) and endomyocardial biopsy. Entropy was automatically calculated as a result of contractile phase analysis for each myocardial sampling point from GMPS, and it reflects a dispersion of global mechanical contraction. All patients were allocated into two groups based on the median of entropy; HE-group: entropy≥0.61 and LE-group: entropy<0.61. All patients were followed up at the mean of 2.8 years. Results: The mean QRS duration, left ventricular ejection fraction (LVEF) and plasma brain natriuretic peptide (BNP) levels were 114 msec, 35% and 225 pg/mL, respectively. Although there were no significant differences in QRS duration and plasma BNP levels between the two groups, LVEF was lower in the HE-group than in the LE-group (31.1% vs 39.8%, p=0.002). In Kaplan-Meier survival analysis, cardiac event rate was significantly higher in the HE-group (Figure). Cox proportional hazard analysis revealed that the HE-group was a significant determinant of cardiac events (Hazard Ratio: 7.66; 95%CI: 0.070-2.532; p=0.033). The mRNA expression level of sarcoplasmic endoplasmic reticulum Ca2+ ATPase (SERCA2a) in biopsy specimens was significantly lower in the LE-group (p=0.015). Conclusion: Contractile entropy, reflecting an impairment of global left ventricular contraction, might be useful to predict a poor prognosis in patients with NIDCM.

Myocarditis and pericarditis

2017 ◽  
Author(s):  
Michel Noutsias ◽  
Bernhard Maisch
Keyword(s):  
Dilated Cardiomyopathy ◽  
Clinical Management ◽  
Acute Myocarditis ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Histological Evaluation ◽  
Prognostic Impact ◽  
Inflammatory Cardiomyopathy ◽  
Ventricular Ejection Fraction ◽  
Cardioverter Defibrillator

Transition of acute myocarditis to dilated cardiomyopathy occurs in approximately 20% of patients within a follow-up period of 33 months. Recent research has revealed the adverse prognostic impact of several clinical parameters for this scenario. Acute myocarditis and its sequelae dilated cardiomyopathy and inflammatory cardiomyopathy are often caused by viral infections. Histological evaluation of endomyocardial biopsies is critical for the diagnosis of the cardiomyopathy entity and for the clinical management of around 20% of the patients. Additionally, contemporary diagnostic procedures of endomyocardial biopsies are indispensable for the selection of inflammatory cardiomyopathy patients who will likely benefit from immunosuppression or antiviral (interferon) treatment. Immunoadsorption, with subsequent immunoglobulin substitution, is a further promising immunomodulatory treatment option for dilated cardiomyopathy patients, targeting primarily the anticardiac autoantibodies. Cardiac magnetic resonance has emerged as a valuable diagnostic approach for myocarditis and pericarditis. Myocardial late gadolinium enhancement has been associated with adverse outcome and sudden cardiac death. Bridging of the first 3 months with a wearable cardioverter–defibrillator, until a definitive decision on the implantation of an implantable cardioverter–defibrillator, is a growingly recognized cornerstone in the clinical management of patients with acute myocarditis with depressed left ventricular ejection fraction of <40% and new-onset dilated cardiomyopathy, respectively. Acute pericarditis is labelled idiopathic or suspected viral without adequate proof of the respective aetiology. Non-steroidal anti-inflammatory drugs and colchicine are proven and safe therapeutic mainstays for pericarditis, including the first attack. Pericardiocentesis is a lifesaving treatment of cardiac tamponade. Pericardioscopy and epicardial biopsies can contribute to the aetiological differentiation of pericardial effusions.

scholarly journals 418 Titin mutations and female sex characterize dilated cardiomyopathy in the elderly

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Antonio Cannata ◽  
Marco Merlo ◽  
Matteo Dal Ferro ◽  
Paolo Manca ◽  
Alessia Paldino ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Dilated Cardiomyopathy ◽  
Rare Variants ◽  
Late Onset ◽  
The Elderly ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Prognostic Impact ◽  
Ventricular Ejection Fraction ◽  
Female Sex

Abstract Aims Dilated cardiomyopathy (DCM) is frequently caused by genetic factors. Studies identifying deleterious rare variants have predominantly focused on early-onset cases, and little is known about the genetic underpinnings of the growing numbers of patients with DCM who are diagnosed after 60 years of age (i.e. late-onset DCM). The aim is to investigate the prevalence, type, and prognostic impact of disease-associated rare variants in late-onset DCM patients. Methods and results We analysed a population of late-onset DCM patients who had undergone genetic testing in seven international tertiary referral centres worldwide. A positive genotype was defined as the presence of ‘pathogenic’ or ‘likely pathogenic’ (P/LP) variants. The study outcome was all-cause mortality. 184 patients over age 60 years (56% females, mean age 67 ± 6 years, mean left ventricular ejection fraction 32 ± 10%) were studied. Sixty-six patients (36%) were carriers of a P/LP variant. Titin truncating variants (TTNtv) were the most prevalent (present in 25% of the total population and accounting for 69% of all genotype-positive patients). During a median follow-up of 42 months (interquartile range: 10–115), 23 patients (13%) died; 17 of these (25%) were carriers of P/LP variants while six patients (5.1%) were genotype-negative (P &lt; 0.001). Conclusions In the largest series worldwide, to date, of patients with late-onset DCM, we found a high prevalence of female sex and a high genetic mutation burden, largely due to TTNtv. Patients with a positive genetic test had higher mortality than genotype-negative patients. These findings support the extended use of genetic testing also in the elderly.

Myocarditis and pericarditis

2015 ◽  
Author(s):  
Michel Noutsias ◽  
Bernhard Maisch
Keyword(s):  
Dilated Cardiomyopathy ◽  
Clinical Management ◽  
Acute Myocarditis ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Histological Evaluation ◽  
Prognostic Impact ◽  
Inflammatory Cardiomyopathy ◽  
Ventricular Ejection Fraction ◽  
Cardioverter Defibrillator

Transition of acute myocarditis to dilated cardiomyopathy occurs in approximately 20% of patients within a follow-up period of 33 months. Recent research has revealed the adverse prognostic impact of several clinical parameters for this scenario. Acute myocarditis and its sequelae dilated cardiomyopathy and inflammatory cardiomyopathy are often caused by viral infections. Histological evaluation of endomyocardial biopsies is critical for the diagnosis of the cardiomyopathy entity and for the clinical management of around 20% of the patients. Additionally, contemporary diagnostic procedures of endomyocardial biopsies are indispensable for the selection of inflammatory cardiomyopathy patients who will likely benefit from immunosuppression or antiviral (interferon) treatment. Immunoadsorption, with subsequent immunoglobulin substitution, is a further promising immunomodulatory treatment option for dilated cardiomyopathy patients, targeting primarily the anticardiac autoantibodies. Cardiac magnetic resonance has emerged as a valuable diagnostic approach for myocarditis and pericarditis. Myocardial late gadolinium enhancement has been associated with adverse outcome and sudden cardiac death. Bridging of the first 3–6 months with a wearable cardioverter–defibrillator, until a definitive decision on the implantation of an implantable cardioverter–defibrillator, is a growingly recognized cornerstone in the clinical management of patients with acute myocarditis with depressed left ventricular ejection fraction of <40% and new-onset dilated cardiomyopathy, respectively. Acute pericarditis is labelled idiopathic or suspected viral without adequate proof of the respective aetiology. Non-steroidal anti-inflammatory drugs and colchicine are proven and safe therapeutic mainstays for pericarditis, including the first attack. Pericardiocentesis is a lifesaving treatment of cardiac tamponade. Pericardioscopy and epicardial biopsies can contribute to the aetiological differentiation of pericardial effusions.

Abstract 15519: The Prognostic Impact of Transcardiac Gradient of Follistatin-like 1 in Patients With Non-ischemic Dilated Cardiomyopathy

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Hideo Oishi ◽  
TAKAHIRO OKUMURA ◽  
Koji Ohashi ◽  
Yuki Kimura ◽  
Shingo Kazama ◽  
...  
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Right Atrial ◽  
Left Ventricular Ejection ◽  
Prognostic Impact ◽  
Ventricular Ejection Fraction ◽  
Median Plasma ◽  
Non Ischemic Dilated Cardiomyopathy ◽  
The Difference

Introduction: Follistatin-like 1 (FSTL1) is secreted from various tissues including myocardium and could play a cardioprotective role against harmful stimuli. It has been shown that the expression of FSTL1 protein in patients with heart failure is higher than that in healthy subjects. However, little is known about the association between serum FSTL1 levels and the cardiac prognosis. Hypothesis: We hypothesized that the transcardiac gradient of FSTL1 reflect myocardial FSTL1 and is useful for predicting prognosis in patients with non-ischemic dilated cardiomyopathy (NIDCM). Methods: Thirty-two NIDCM patients were enrolled. Blood samples were simultaneously collected from the aortic root (Ao), coronary sinus (CS) as well as peripheral vein during cardiac catheterization. The transcardiac gradient of FSTL1 was calculated by the difference between serum FSTL1 levels of CS and Ao (FSTL1 CS-Ao ). Patients were divided into two groups at the median of FSTL1 CS-Ao : Low FSTL1 CS-Ao group, <0 ng/mL; High- FSTL1 CS-Ao group, > 0 ng/mL. The primary endpoint of this study was the occurrence of a cardiac event, which was defined as a composite of cardiac deaths and unexpected hospitalizations for worsening heart failure. Results: The median plasma B type natriuretic levels and mean left ventricular ejection fraction in the Low and High FSTL1 CS-Ao groups were 91.9 (21.7 - 277.5) vs. 94.1 (59.1 - 236.5) pg/mL (P = 1.000) and 31.4 ± 6.5 vs. 30.5 ± 7.3 % (P = 0.714), respectively. FSTL1 CS-Ao was negatively correlated with pulmonary capillary wedge pressure (R = -0.400, P = 0.023), mean pulmonary artery pressure (R = -0.40, P = 0.023) and right atrial pressure (R = -0.41, P = 0.019). Kaplan-Meier analysis showed that event-free survival rate was significantly lower in the Low FSTL1 CS-Ao group (p=0.0126). Conclusions: Transcardiac gradient of FSTL1 is associated with hemodynamics and low transcardiac gradient of FSTL1 might be associated with poor prognosis in NIDCM patients.

scholarly journals Higher Serum Lysophosphatidic Acids Predict Left Ventricular Reverse Remodeling in Pediatric Dilated Cardiomyopathy

2021 ◽  
Vol 9 ◽  
Author(s):  
Haichu Wen ◽  
Hongzhao You ◽  
Yulin Li ◽  
Ke Ma ◽  
Meng Jiao ◽  
...  
Keyword(s):  
Cardiac Function ◽  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Cox Proportional Hazards ◽  
Left Ventricular Ejection ◽  
Reverse Remodeling ◽  
Z Score ◽  
Ventricular Ejection Fraction ◽  
Left Ventricular Reverse Remodeling ◽  
Validation Set

Background: The prognosis of pediatric dilated cardiomyopathy (PDCM) is highly variable, ranging from death to cardiac function recovery. Left ventricular reverse remodeling (LVRR) represents a favorable prognosis in PDCM. Disturbance of lipid metabolism is associated with the change of cardiac function, but no studies have examined lipidomics data and LVRR.Methods: Discovery analyses were based on 540 targeted lipids in an observational, prospective China—AOCC (An Integrative-Omics Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China) study. The OPLS-DA and random forest (RF) analysis were used to screen the candidate lipids. Associations of the candidate lipids were examined in Cox proportional hazards regression models. Furthermore, we developed a risk score comprising the significant lipids, with each attributed a score of 1 when the concentration was above the median. All significant findings were replicated in a validation set of the China-AOCC study.Results: There were 59 patients in the discovery set and 24 patients in the validation set. LVRR was observed in 27 patients (32.5%). After adjusting for age, left ventricular ejection fraction (LVEF), and left ventricular end-diastolic dimension (LVEDD) z-score, lysophosphatidic acids (LysoPA) 16:0, LysoPA 18:2, LysoPA 18:1, and LysoPA 18:0 were significantly associated with LVRR in the discovery set, and hazard ratios (HRs) were 2.793 (95% CI, 1.545–5.048), 2.812 (95% CI, 1.542–5.128), 2.831 (95% CI, 1.555–5.154), and 2.782 (95% CI, 1.548-5.002), respectively. We developed a LysoPA score comprising the four LysoPA. When the LysoPA score reached 4, LVRR was more likely to be observed in both sets. The AUC increased with the addition of the LysoPA score to the LVEDD z-score (from 0.693 to 0.875 in the discovery set, from 0.708 to 0.854 in the validation set) for prediction of LVRR.Conclusions: Serum LysoPA can predict LVRR in PDCM patients. When the LysoPA score was combined with the LVEDD z-score, it may help in ascertaining the prognosis and monitoring effects of anti-heart failure pharmacotherapy.

scholarly journals Clinical Determinants and Prognosis of Left Ventricular Reverse Remodelling in Non-Ischemic Dilated Cardiomyopathy

2022 ◽  
Vol 9 (1) ◽  
pp. 20
Author(s):  
Carles Díez-López ◽  
Joel Salazar-Mendiguchía ◽  
Elena García-Romero ◽  
Lara Fuentes ◽  
Josep Lupón ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Systolic Dysfunction ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Prognostic Impact ◽  
Clinical Predictors ◽  
Treatment Optimization ◽  
Ventricular Ejection Fraction ◽  
Reverse Remodelling

Aims: Non-ischaemic dilated cardiomyopathy (NIDCM) is characterized by left ventricular (LV) chamber enlargement and systolic dysfunction in the absence of coronary artery disease. Left ventricular reverse remodelling (LVRR) is the ability of a dilated ventricle to restore its normal size, shape and function. We sought to determine the frequency, clinical predictors and prognostic implications of LVRR, in a cohort of heart failure (HF) patients with NIDCM. Methods: We conducted a multicentre observational, retrospective cohort study of patients with NIDCM, with prospective serial echocardiography evaluations. LVRR was defined as an increase of ≥15% in left ventricular ejection fraction (LVEF) or as a LVEF increase ≥ 10% plus reduction of LV end-systolic diameter index ≥ 20%. We used multivariable logistic regression analyses to identify the baseline clinical predictors of LVRR and evaluate the prognostic impact of LVRR. Results: LVRR was achieved in 42.5% of 527 patients with NIDCM during the first year of follow-up (median LVEF 49%, median change +22%), Alcoholic aetiology, HF duration, baseline LVEF and the absence of LBBB (plus NT-proBNP levels when in the model), were the strongest predictors of LVRR. During a median follow-up of 47 months, 134 patients died (25.4%) and 7 patients (1.3%) received a heart transplant. Patients with LVRR presented better outcomes, regardless of other clinical conditions. Conclusions: In patients with NIDCM, LVRR was frequent and was associated with improved prognosis. Major clinical predictors of LVRR were alcoholic cardiomyopathy, absence of LBBB, shorter HF duration, and lower baseline LVEF and NT-proBNP levels. Our study advocates for clinical phenotyping of non-ischaemic dilated cardiomyopathy and intense gold-standard treatment optimization of patients according to current guidelines and recommendations in specialized HF units.

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.

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