scholarly journals Genetic risk factors for dilated cardiomyopathy

2021 ◽  
Vol 26 (10) ◽  
pp. 4628
Author(s):  
T. G. Vaikhanskaya ◽  
L. N. Sivitskaya ◽  
O. D. Levdansky ◽  
T. V. Kurushko ◽  
N. G. Danilenko
Keyword(s):  
Risk Factors ◽  
Ventricular Tachycardia ◽  
Ventricular Fibrillation ◽  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Sustained Ventricular Tachycardia ◽  
Cardiac Resynchronization ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Life Threatening

Aim. To study the diagnostic significance of genetic testing in patients with dilated cardiomyopathy (DCM), identify predictors of life-threatening ventricular tachyarrhythmias (VTAs) and assess adverse clinical outcomes in different genetic groups.Material and methods. The study included 126 unrelated patients with verified DCM as follows: 70 (55,6%) probands with criteria for familial DCM and 56 (44,4%) individuals with a probable hereditary component. All patients (age, 43,1±11,3 years; men, 92 (73%); left ventricular ejection fraction, 30,6±8,43%; left ventricular enddiastolic diameter, 68,3±8,36 mm; follow-up period — median, 49 months) receive a complex of diagnostic investigations, including genetic screening using nextgeneration sequencing, followed by verification of variants by the Sanger method.Results. Pathogenic and likely pathogenic genetic variants were found in 61 (48,4%) of 126 patients with DCM. The dominant mutations were titin-truncating variants (TTNtvs), identified in 16 individuals (12,7%), and variants of lamin A/C (LMNA), identified in 13 probands (10,3%). Mutations in the other 19 genes were found in 32 (25,4%) patients. The following primary endpoints were assessed: sudden cardiac death (SCD), episodes of VTA (sustained ventricular tachycardia/ventricular fibrillation) and appropriate shocks of implanted cardiac resynchronization therapy (CRT)/cardioverter defibrillators (CVD) devices. As a result of ROC analysis, the following independent risk factors for SCD were identified: mutations in the LMNA gene (AUC, 0,760; p=0,0001) and non-sustained ventricular tachycardia (cut-off heart rate ≥161 bpm: AUC, 0,788; p=0,0001). When comparing the phenotypes and genotypes of DCM, TTNtv genotype was associated with a lower prevalence of complete left bundle branch block (χ2=7,46; p=0,024), a lower need for CRT/CVD implantation (χ2=5,70; p=0,017) and more rare episodes of sustained ventricular tachycardia/ventricular fibrillation (χ2=30,1; p=0,0001) compared with LMNA carriers. Kaplan-Meier analysis showed the worst prognosis in carriers of LMNA mutations both in relation to life-threatening VTA (log rang χ2=88,5; p=0,0001) and in achieving all unfavorable outcomes (χ2=27,8; p=0,0001) compared with groups of genenegative individuals, carriers of TTNtv and other genotypes.Conclusion. The phenotypes of DCM with TTNtv did not significantly differ in the incidence of VTAs and adverse outcomes compared with the gene-negative group and other genotypes (with the exception of LMNA). The contribution of the associations of LMNA mutations with VTAs on prognosis was confirmed, which shows the important role of LMNA genotype diagnosis for SCD risk stratification in patients with DCM.

Abstract 5935: Influence of Recent Advances in the Management of Heart Failure and Ventricular Arrhythmias on Survival in Patients with Cardiac Sarcoidosis

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Yoshikazu Yazaki ◽  
Mitsuaki Horigome ◽  
Kazunori Aizawa ◽  
Takeshi Tomita ◽  
Hiroki Kasai ◽  
...  
Keyword(s):  
Heart Failure ◽  
Ventricular Tachycardia ◽  
Cardiac Sarcoidosis ◽  
Severe Heart Failure ◽  
Left Ventricular ◽  
Cardiac Resynchronization ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Predictors Of Mortality ◽  
Recent Advances

Background : We previously described severity of heart failure and ventricular tachycardia (VT) as independent predictors of mortality in patients with cardiac sarcoidosis (CS). Medical treatment for chronic heart failure has been established over the last few decades. Prophylactic use of implantable cardioverter defibrillator (ICD) and cardiac resynchronization therapy (CRT or CRT-D) have been introduced in patients with severe heart failure. We therefore hypothesized that the prognosis of CS improves due to such advances in the management of heart failure and VT. Methods : To confirm our hypothesis, we analyzed 43 CS patients diagnosed between 1988 and 2006 and treated with corticosteroids. We classified two sequential referral patients diagnosed between 1988 and 1997 (n=19) and between 1998 and 2006 (n=24), and compared treatment and prognosis between the two cohorts. Results : Left ventricular ejection fraction (LVEF) and dimensions were similar between the two cohorts. Although age in the 1988–1997 referral cohort was significantly younger than that in the 1998–2006 referral cohort (54±14years versus 62±10years, p<0.05), survival in the earlier cohort was significantly worse (log-rank=4.41, p<0.05). The 1- and 5-year mortality rates were 88% and 71% in the 1988–1997 referral cohort, and 96% and 92% in the 1998–2006 referral cohort, respectively. The 1998–2006 referral cohort showed significantly higher incidence of ICD or CRT-D implantation (29% versus 6%, p<0.05), β-blocker use (46% versus 6%, p<0.01) and addition of methotrexate (21% versus 0%, p<0.05), and increased maintenance dose (7.0±1.9mg/day versus 5.0±0.9mg/day, p<0.01) compared to the 1988–1997 referral cohort. Multivariate analysis including age, LVEF, and sustained ventricular tachycardia (sVT) identified diagnosis between 1988 and 1997 (hazard ratio [HR]: 19.8, p<0.01) and LVEF (HR: 0.83/1% increase, p<0.01) as independent predictors of mortality. Conclusions : Survival in the recent CS patients is significantly better than previously described. Recent advances in the device therapies and medical treatments including modified immunosuppression alter the clinical outcome in patients with CS.

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.

scholarly journals Brugada syndrome: A brand new case

2009 ◽  
Vol 66 (8) ◽  
pp. 667-670
Author(s):  
Ruzica Jurcevic ◽  
Lazar Angelkov ◽  
Dejan Vukajlovic ◽  
Velibor Ristic ◽  
Milosav Tomovic ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Ventricular Fibrillation ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Structural Heart Disease ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Type I ◽  
Ventricular Ejection Fraction ◽  
St Segment Elevation

Background: Brugada syndrome (BS) is a disorder characterized by syncope or sudden death associated with one of several electrocardiographic (ECG) patterns characterized by incomplete right bundle branch block and ST elevation in the anterior precordial leads. Patients with BS are prone to develop ventricular tachyarrhythmias that may lead to syncope, cardiac arrest, or sudden cardiac death. Case report. A 58-year-old woman is the first described case of Brugada syndrome in Serbia with intermittent typical changes in basic electrocardiography (ECG): ST segment elevation in the precordial chest leads like dome or coved - major form or type I. For the last 27 years the patient had suffered of palpitations and dizziness, without syncopal events. Her sister had died suddenly during the night in sleep. During 24-hour Holter monitoring the patient had ventricular premature beats during the night with R/T phenomenon and during the recovery phase of exercise testing had rare premature ventricular beats as the consequence of parasympatethic stimulation. Late potentials were positive. Echocardiography revealed left ventricular ejection fraction of 60%. We performed coronary angiography and epicardial coronary arteries were without significant stenosis and structural heart disease was excluded. In the bigining of the electrophysiological study ECG was normal, and after administration of Propaphenon i.v. Brugada syndrome unmasked with appearance of type I ECG pattern. A programed ventricular stimulation induced non sustained ventricular tachycardia. One-chamber implantable cardioverter defibrillator was implanted and the patient was treated with a combination od amiodarone and metoprolol per os. After one-year follow-up, there were no episodes of ventricular tachycardia and ventricular fibrillation. Conclusion. Brugada syndrome is a myocardial disorder which prognosis and therapy are related to presence of ventricular fibrillation or ventricular tachycardia. Electrophysiologicaly induced malignant ventricular disorders class I are indication for implantation of cardioverter defibrilator, as also occurred in presented patient.

scholarly journals P52 Two pathologies one heart: life-threatening lupus myocarditis in a patient with pre-existing dilated cardiomyopathy

Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Harold Wilson-Morkeh ◽  
Taryn Youngstein ◽  
Shabnam Shabbir ◽  
Jyoti Bakshi ◽  
Tomi Pihlajavaara ◽  
...  
Keyword(s):  
Ejection Fraction ◽  
Dilated Cardiomyopathy ◽  
Immunosuppressive Treatment ◽  
Left Ventricular ◽  
Delayed Enhancement ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Life Threatening ◽  
Lupus Myocarditis ◽  
Cmr Imaging

Abstract Background Acute myocarditis is a life-threatening complication of systemic lupus erythematosus (SLE) often indicative of severe multisystem disease. Treatment of lupus myocarditis (LM) is well described in the literature with high-dose corticosteroids and cyclophosphamide providing the backbone of induction therapy. Less commonly reported are outcomes of patients with SLE and pre-existing structural heart disease. Methods We present a case of acute LM occurring in the context of established non-ischaemic dilated cardiomyopathy (DCM) presenting a significant diagnostic challenge. Results A 45-year-old woman from Afghanistan with known SLE presented with acute chest pain and dyspnoea. She had a previous mild SLE disease course limited to her skin and joints and was historically non-compliant with immunosuppressive treatment. She also had non-ischaemic DCM diagnosed six years prior to presentation with non-progressive imaging over this time. Upon acute assessment at the referring centre a widespread livedoid rash and cool peripheries were noted. Initial investigations revealed an elevated Troponin-I of 111ng/L and Brain Natriuretic Peptide (BNP) of 4497ng/L. An electrocardiogram revealed no acute ischaemic changes whilst her chest radiograph revealed features in keeping with pulmonary oedema. Transthoracic echocardiogram (TTE) demonstrated a dilated left ventricle with severe global systolic impairment. Her left ventricular ejection fraction (LVEF) was visually estimated at 10-15%, significantly reduced from her last recorded LVEF of 52% on a cardiovascular magnetic resonance (CMR) scan 18-months previously. Intravenous (iv) methylprednisolone, iv diuresis and B-cell depletion therapy were commenced prior to transfer to our department. Once transferred, a CMR scan confirmed an ejection fraction of only 12%. Septal mid-wall delayed enhancement was seen consistent with a non-ischaemic DCM, however, subepicardial delayed enhancement was visualised inferolaterally on native T1-mapping in keeping with perimyocarditis. Additional results on admission were supportive of a multisystem SLE flare. She was lymphopaenic (1.0x109/L), thrombocytopaenic (66x109/L), hypocomplimentaemic (C3 0.33g/L, C4 &lt;0.03g/L), and had elevated dsDNA antibodies (83unit/mL). Serum creatinine had risen from a baseline of 47µmol/L to 110µmol/L and her urine protein: creatinine ratio (414mg/mmol) raised the suspicion of lupus nephritis (LN). Renal biopsy was not performed due to thrombocytopaenia. An MDT discussion with the cardiology, CMR imaging and renal teams took place with CMR imaging proving pivotal in establishing new LM on a background of established DCM. The decision to treat with intravenous (iv) cyclophosphamide was made and repeat TTE at 14 days revealed a significant improvement in LVEF to 25-30%. Conclusion CMR imaging was crucial in delineating acute and potentially reversible myocarditis on a background of chronic cardiomyopathy. This finding supported the escalation in immunosuppressive treatment to a cyclophosphamide-based regimen and led to the rapid improvement in ejection fraction in this young patient. She received 6 fortnightly doses of iv cyclophosphamide and is now maintained on hydroxychloroquine, mycophenolate mofetil and rituximab. Disclosures H. Wilson-Morkeh: None. T. Youngstein: None. S. Shabbir: None. J. Bakshi: None. T. Pihlajavaara: None. M. Bellamy: None. T. Cairns: None.

scholarly journals Clinical history of acute myocarditis in patients with preserved left ventricular ejection fraction

2019 ◽  
Vol 26 (3) ◽  
pp. 62-68
Author(s):  
V. M. Kovalenko ◽  
E. G. Nesukay ◽  
S. V. Cherniuk ◽  
R. M. Kirichenko ◽  
N. S. Titova ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Cardiac Rhythm ◽  
Acute Myocarditis ◽  
Left Ventricular ◽  
Sustained Ventricular Tachycardia ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction

The aim – to investigate the dynamic changes of the structural and functional state of the heart and the persistence of cardiac rhythm disorders in patients with acute myocarditis with preserved left ventricular ejection fraction (LV EF) during 6 months of follow-up. Materials and methods. 54 patients with acute myocarditis and preserved LV EF (> 40 %) of the left ventricle (LV) were screened. The examination was performed twice: in the first month from the debut of myocarditis and in 6 months of follow-up. Results and discussion. According to data obtained by CMR, in the 1st month from the disease onset, the early contrast on T1-weighted images and/or the high intensity of the signal on T2 images were detected in all patients, with their percentage being 66.6 % and 62.9 % respectively, and late enhancement was observed in 14.8 % of cases. After 6 months of observation, edema and myocardial hyperemia were detected only in 7.4 and 9.2 % of cases, and fibrotic changes were in 37.0 % of patients, while 59.2 % of patients had no pathological changes on CMR at all. The average number of affected by inflammatory changes LV segments in the 1st month was 2.33±0.23, and after 6 months it decreased to 1.43±0.17 segments (р<0.01). The value of LV EF increased from 47.3±2.3 % in the 1st month to 56.2±2.5 % after 6 months (р<0.05) of follow-up, and detection of non-sustained ventricular tachycardia (NSVT) episodes decreased from 20.4 % cases in the 1st month to 7.4 % of cases after 6 months. According to the results of the correlation analysis, a strong direct correlation was established between the number of LV segments involved in the inflammatory process in the 1st month from the myocarditis onset (r=0.81, р<0.01) as also after 6 months (r=0.72; р<0.01) and the presence of NSVT episodes, that was also confirmed by determining the exact Fisher criterion (p=0.019), statistically reliable correlations of the same direction were also established between the presence of NSVT episodes and fibrotic changes on cardiac MRI. Conclusions. For patients with acute myocarditis with a preserved LV EF, the absence of severe violations of the LV contractile function is characterized by a small amount of inflammatory lesions of myocardium. Clinically significant cardiac rhythm disorders, in particular episodes of non-sustained ventricular tachycardia, can be observed in these patients in the absence of significant violations of the structural and functional heart state and are associated with a greater number of LV segments affected by inflammatory and fibrotic changes.

scholarly journals Spontaneous Non-Sustained Ventricular Tachycardia and Premature Ventricular Contractions and Their Prognostic Relevance in Patients with Cancer in Routine Care

Cancers ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 2303
Author(s):  
Annemarie Albrecht ◽  
Jan Porthun ◽  
Jan Eucker ◽  
Andrew J.S. Coats ◽  
Stephan von Haehling ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Cancer Patients ◽  
Routine Care ◽  
Left Ventricular ◽  
Sustained Ventricular Tachycardia ◽  
Left Ventricular Ejection ◽  
Premature Ventricular Contractions ◽  
Ventricular Ejection Fraction ◽  
Patients With Cancer ◽  
Prognostic Relevance

Aims: It is largely unknown whether cancer patients seen in routine care show ventricular arrhythmias in 24 h electrocardiograms (ECGs), and whether when they are detected they carry prognostic relevance. Methods and Results: We included 261 consecutive cancer patients that were referred to the department of cardiology for 24 h ECG examination and 35 healthy controls of similar age and sex in the analysis. To reduce selection bias, cancer patients with known left ventricular ejection fraction <45% were not included in the analysis. Non–sustained ventricular tachycardia (NSVT) episodes of either ≥3 and ≥4 beats duration were more frequent in cancer patients than controls (17% vs. 0%, p = 0.0008; 10% vs. 0%, p = 0.016). Premature ventricular contractions (PVCs)/24 h were not more frequent in cancer patients compared to controls (median (IQR), 26 (2–360) vs. 9 (1–43), p = 0.06; ≥20 PVCs 53% vs. 37%, p = 0.07). During follow-up, (up to 7.2 years, median 15 months) of the cancer patients, 158 (61%) died (1-/3-/5-year mortality rates: 45% [95%CI 39–51%], 66% [95%CI 59–73%], 73% [95%CI 64–82%]). Both non-sustained ventricular tachycardia of ≥4 beats and ≥20 PVCs/24 h independently predicted mortality in univariate and multivariate survival analyses, adjusted for all other univariate predictors of mortality as well as relevant clinical factors, including cancer stage and type, performance status (ECOG), prior potentially cardiotoxic anti-cancer drug therapy, coronary artery disease, potassium concentration, and haemoglobin (multivariate adjusted hazard ratios: NSVT ≥4 beats [HR 1.76, p = 0.022], ≥20 PVCs/24 h [HR 1.63, p < 0.0064]). Conclusions: NSVT ≥4 beats and ≥20 PVCs/day seen in routine 24 h ECGs of patients with cancer carry prognostic relevance.

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