Phenotypic Expression, Natural History and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants

Circulation ◽  
2021 ◽  
Author(s):  
Marta Gigli ◽  
Davide Stolfo ◽  
Sharon Graw ◽  
Marco Merlo ◽  
Caterina Gregorio ◽  
...  
Keyword(s):  
Natural History ◽  
Risk Stratification ◽  
Right Ventricular ◽  
Tertiary Care ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Arrhythmic Death ◽  
Life Threatening ◽  
Filamin C

Background: Filamin C truncating variants ( FLNCtv ) cause a form of arrhythmogenic cardiomyopathy (ACM): the mode of presentation, natural history and risk stratification of FLNCtv remain incompletely explored. We sought to develop a risk profile for refractory heart failure and life-threatening arrhythmias in a multicenter cohort of FLNCtv carriers. Methods: FLNCtv carriers were identified from ten tertiary care centers for genetic cardiomyopathies. Clinical and outcome data were compiled. Composite outcomes were all-cause mortality/heart transplantation/left ventricle assist device (D/HT/LVAD), non-arrhythmic death/HT/LVAD and SCD/major ventricular arrhythmias (SCD/MVA). Previously established cohorts of 46 patients with LMNA and 60 with DSP -related ACM were used for prognostic comparison. Results: Eighty-five patients carrying FLNCtv were included (42±15 years, 53% males, 45% probands). Phenotypes were heterogeneous at presentation: 49% dilated cardiomyopathy, 25% arrhythmogenic left dominant cardiomyopathy, 3% arrhythmogenic right ventricular cardiomyopathy. Left ventricular ejection fraction (LVEF) was <50% in 64% of carriers and 34% had right ventricular fractional area changes (RVFAC=(right ventricular end-diastolic area - right ventricular end-systolic area)/ right ventricular end-diastolic area) <35%. During follow-up (median time 61 months), 19 (22%) carriers experienced D/HT/LVAD, 13 (15%) non-arrhythmic death/HT/LVAD and 23 (27%) SCD/MVA. The SCD/MVA incidence of FLNCtv carriers did not significantly differ from LMNA carriers and DSP carriers. In FLNCtv carriers, LVEF was associated with the risk of D/HT/LVAD and non-arrhythmic death/HT/LVAD. C Conclusions: Among patients referred to tertiary referral centers, FLNCtv ACM is phenotypically heterogeneous and characterized by high risk of life-threatening arrhythmias, which does not seem to be associated with the severity of LV dysfunction.

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.

Sudden Arrhythmic Death at the Higher End of the Heart Failure Spectrum

Angiology ◽  
2019 ◽  
Vol 71 (5) ◽  
pp. 389-396
Author(s):  
Apostolos Dimos ◽  
Andrew Xanthopoulos ◽  
Michail Papamichalis ◽  
Angeliki Bourazana ◽  
Dimitrios Tavoularis ◽  
...  
Keyword(s):  
Heart Failure ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Implantable Cardioverter Defibrillators ◽  
Ventricular Ejection Fraction ◽  
Arrhythmic Death ◽  
Normal Left Ventricular ◽  
Life Threatening ◽  
Cardioverter Defibrillators ◽  
Normal Lvef

The risk of sudden cardiac death (SCD) is high in heart failure (HF) patients. Sudden arrhythmic death (SAD) is a frequent cause of exit in HF patients at the lower end of the HF spectrum, and implantable cardioverter–defibrillators have been recommended to prevent these life-threatening rhythm disturbances in select patients. However, less is known regarding the cause of SCD in patients at the upper end of the HF spectrum, despite the fact that the majority of out-of-hospital SCD victims have unknown or near-normal/normal left ventricular ejection fraction (LVEF). In this review, we report the epidemiology, summarize the mechanisms, discuss the diagnostic challenges, and propose a stepwise approach for the prevention of SAD in HF with near-normal/normal LVEF.

scholarly journals The role of cardiac magnetic resonance for arrhythmic risk stratification in a patient with myocarditis

2021 ◽  
Author(s):  
Giuseppe Fede ◽  
◽  
Giuseppe Abate ◽  
Giovanni Tasca ◽  
Nicoletta Guccione ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Risk Stratification ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Left Ventricular ◽  
Myocardial Scar ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Life Threatening

Myocarditis is an inflammatory disease of cardiac muscle with a variable clinical presentation, ranging from asymptomatic cases to different degrees of left ventricular systolic dysfunction up to heart failure and dilated heart disease. Ventricular arrhythmias (VA) can occur in patients with myocarditis and implantable cardioverter defibrillator (ICD) may be indicated in patients with life-threatening VA who are not in the acute phase of myocarditis and who are receiving optimal medical therapy. Reduced left ventricular ejection fraction (LVEF) below 35%, which is used as the main criterion for stratifying the risk of sudden cardiac death (SCD), has low sensitivity and low specificity for arrhythmic risk stratification in patients with myocarditis. Myocardial scar is the main determinant for VA in these patients. Cardiac magnetic resonance imaging (CMR), using late gadolinium enhancement(LGE), has an excellent ability to determinate the extension and characterization of myocardial scar, indeed CMR can potentially improve SCD risk stratification and indication for ICD implantation in patients with myocarditis. We present a case of a 36 years-old male presenting to the Emergency Department with a monomorphic sustained ventricular tachycardia in whom MRI revealed myocardial-pericardial recurrent inflammatory involvement and worsening disease progression. ICD was implanted in consideration of the high risk of life-threatening arrhythmias.

ACCESSMENT OF RIGHT VENTRICULAR SYSTOLIC FUNCTION USING TAPSE

2011 ◽  
pp. 62-70
Author(s):  
Lien Nhut Nguyen ◽  
Anh Vu Nguyen
Keyword(s):  
Heart Failure ◽  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Right Ventricular ◽  
Systolic Function ◽  
Systolic Heart Failure ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction

Background: The prognostic importance of right ventricular (RV) dysfunction has been suggested in patients with systolic heart failure (due to primary or secondary dilated cardiomyopathy - DCM). Tricuspid annular plane systolic excursion (TAPSE) is a simple, feasible, reality, non-invasive measurement by transthoracic echocardiography for evaluating RV systolic function. Objectives: To evaluate TAPSE in patients with primary or secondary DCM who have left ventricular ejection fraction ≤ 40% and to find the relation between TAPSE and LVEF, LVDd, RVDd, RVDd/LVDd, RA size, severity of TR and PAPs. Materials and Methods: 61 patients (36 males, 59%) mean age 58.6 ± 14.4 years old with clinical signs and symtomps of chronic heart failure which caused by primary or secondary DCM and LVEF ≤ 40% and 30 healthy subject (15 males, 50%) mean age 57.1 ± 16.8 were included in this study. All patients and controls were underwent echocardiographic examination by M-mode, two dimentional, convensional Dopler and TAPSE. Results: TAPSE is significant low in patients compare with the controls (13.93±2.78 mm vs 23.57± 1.60mm, p<0.001). TAPSE is linearly positive correlate with echocardiographic left ventricular ejection fraction (r= 0,43; p<0,001) and linearly negative correlate with RVDd (r= -0.39; p<0.01), RVDd/LVDd (r=-0.33; p<0.01), RA size (r=-0.35; p<0.01), TR (r=-0.26; p<0.05); however, no correlation was found with LVDd and PAPs. Conclusions: 1. Decreased RV systolic function as estimated by TAPSE in patients with systolic heart failure primary and secondary DCM) compare with controls. 2. TAPSE is linearly positive correlate with LVEF (r= 0.43; p<0.001) and linearly negative correlate with RVDd (r= -0.39; p<0.01), RVDd/LVDd (r=-0.33; p<0.01), RA size (r=-0.35; p<0.01), TR (r=-0.26; p<0.05); however, no correlation is found with LVDd and PAPs. 3. TAPSE should be used routinely as a simple, feasible, reality method of estimating RV function in the patients systolic heart failure DCM (primary and secondary).

Risk stratification in hf with mid-range LVEF: the role of cardiopulmonary exercise testing

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
B.M.L Rocha ◽  
G.J Lopes Da Cunha ◽  
P.M.D Lopes ◽  
P.N Freitas ◽  
F Gama ◽  
...  
Keyword(s):  
Risk Stratification ◽  
Exercise Testing ◽  
Primary Endpoint ◽  
Prognostic Significance ◽  
Cardiopulmonary Exercise Testing ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Cardiopulmonary Exercise

Abstract Background Cardiopulmonary exercise testing (CPET) is recommended in the evaluation of selected patients with Heart Failure (HF). Notwithstanding, its prognostic significance has mainly been ascertained in those with left ventricular ejection fraction (LVEF) &lt;40% (i.e., HFrEF). The main goal of our study was to assess the role of CPET in risk stratification of HF with mid-range (40–49%) LVEF (i.e., HFmrEF) compared to HFrEF. Methods We conducted a single-center retrospective study of consecutive patients with HF and LVEF &lt;50% who underwent CPET from 2003–2018. The primary composite endpoint of death, heart transplant or HF hospitalization was assessed. Results Overall, 404 HF patients (mean age 57±11 years, 78.2% male, 55.4% ischemic HF) were included, of whom 321 (79.5%) had HFrEF and 83 (20.5%) HFmrEF. Compared to the former, those with HFmrEF had a significantly higher mean peak oxygen uptake (pVO2) (20.2±6.1 vs 16.1±5.0 mL/kg/min; p&lt;0.001), lower median minute ventilation/carbon dioxide production (VE/VCO2) [35.0 (IQR: 29.1–41.2) vs 39.0 (IQR: 32.0–47.0); p=0.002) and fewer patients with exercise oscillatory ventilation (EOV) (22.0 vs 46.3%; p&lt;0.001). Over a median follow-up of 28.7 (IQR: 13.0–92.3) months, 117 (28.9%) patients died, 53 (13.1%) underwent heart transplantation, and 134 (33.2%) had at least one HF hospitalization. In both HFmrEF and HFrEF, pVO2 &lt;12 mL/kg/min, VE/VCO2 &gt;35 and EOV identified patients at higher risk for events (all p&lt;0.05). In Cox regression multivariate analysis, pVO2 was predictive of the primary endpoint in both HFmrEF and HFrEF (HR per +1 mL/kg/min: 0.81; CI: 0.72–0.92; p=0.001; and HR per +1 mL/kg/min: 0.92; CI: 0.87–0.97; p=0.004), as was EOV (HR: 4.79; CI: 1.41–16.39; p=0.012; and HR: 2.15; CI: 1.51–3.07; p&lt;0.001). VE/VCO2, on the other hand, was predictive of events in HFrEF but not in HFmrEF (HR per unit: 1.03; CI: 1.02–1.05; p&lt;0.001; and HR per unit: 0.99; CI: 0.95–1.03; p=0.512, respectively). ROC curve analysis demonstrated that a pVO2 &gt;16.7 and &gt;15.8 mL/kg/min more accurately identified patients at lower risk for the primary endpoint (NPV: 91.2 and 60.5% for HFmrEF and HFrEF, respectively; both p&lt;0.001). Conclusions CPET is a useful tool in HFmrEF. Both pVO2 and EOV independently predicted the primary endpoint in HFmrEF and HFrEF, contrasting with VE/VCO2, which remained predictive only in latter group. Our findings strengthen the prognostic role of CPET in HF with either reduced or mid-range LVEF. Funding Acknowledgement Type of funding source: None

scholarly journals Evaluation of Cardiac Biomarkers in Dengue Myocarditis in a Tertiary Care Hospital in Eastern India

2020 ◽  
Author(s):  
Debojyoti Bhattacharjee ◽  
Jayati Roy Choudhury ◽  
Kasturi Mukherjee ◽  
Kheya Mukherjee
Keyword(s):  
Viral Infection ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Left Ventricular ◽  
Cardiac Biomarkers ◽  
Health Concern ◽  
Left Ventricular Ejection ◽  
Cardiac Complications ◽  
Care Hospital ◽  
Ventricular Ejection Fraction

Introduction: Dengue, a vector borne viral infection transmitted by Aedes mosquito has recently become a major public health concern in the tropical regions of the world. In addition to the two major life threatening complications- Dengue Haemorrhagic Fever (DHF) and Dengue Shock Syndrome (DSS), a variety of cardiac complications have been recognised, the most common being myocarditis. Aim: To study and compare the quantity of different cardiac biomarkers in patients of Dengue Fever with and without myocarditis. Materials and Methods: This was a hospital-based retrospective observational study done in a Tertiary Care Hospital, Kolkata, West Bengal, India from June 2019 to November 2019. Dengue patients with diagnosed myocarditis on day 7 of fever based on electro and echocardiogram changes of left ventricular ejection fraction less than 50% were considered as cases (n=41). Age and sex matched dengue patients with normal electro and echocardiogram changes were considered as control (n=43). After obtaining Institutional Ethics Committee Clearance, laboratory data were collected from samples coded and assayed for markers of acute cardiac myocyte damage such as total Creatine Kinase (CK), CK-Muscle Brain (CK-MB), Troponin T (Trop T) and cardiac failure biomarker N-Terminal pro Brain Natriuretic Peptide (NT-proBNP). Statistical analysis of the data was performed using Statistical Package for Social Sciences (SPSS 20). Results: Cardiac biomarkers CK, CK-MB, Trop T and NT-proBNP levels in cases were higher compared to controls (p-value <0.05). Trop T and NT-proBNP were positively correlated to each other (r-value: 0.44). Trop T changes could also predict significantly the rise in NT-proBNP in circulation (p<0.05). Conclusion: It reconfirmed the need of routine monitoring of cardiac biomarkers in conjunction with other cardiac function tests in early diagnosis and or management of myocarditis, a severe complication of Dengue Viral Infection (DENV).

Pacing: a new look. Don’t be deceived

Heart ◽  
2018 ◽  
Vol 104 (18) ◽  
pp. 1491-1528 ◽  
Author(s):  
Chee Loong Chow ◽  
Barveen Abu Baker ◽  
Uwais Mohamed
Keyword(s):  
Right Ventricular ◽  
Sinus Bradycardia ◽  
Biventricular Pacing ◽  
Sinus Node ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Supplementary File ◽  
Electrode Position ◽  
List Type ◽  
Ventricular Ejection Fraction

Clinical introductionA 78-year-old man presents following a syncopal episode in the setting of intermittent sinus bradycardia and left bundle branch block (LBBB). With symptoms likely due to documented intermittent sinus node dysfunction, and finding of a diseased left bundle, a pacemaker was inserted (online supplementary figure 1 shows the electrode position in a PA fluroscopy view). His baseline ECG is shown in figure 1A, with a QRS width of 160 ms, and his echocardiogram revealed a left ventricular ejection fraction of 45%. His ECG day 1 postdevice insertion is shown in figure 1B. His device check confirmed excellent function. His QRS width on ECG postdevice insertion is now normalised to 80 ms.Supplementary file 1QuestionWhat type of device therapy has this patient received?Biventricular pacing.Right ventricular outflow septal pacing.His bundle pacing.Right ventricular apical pacing.Figure 1(A) Baseline ECG and (B) day 1 postpacemaker implantation.

Beyond ejection fraction: Novel clinical approaches towards sudden cardiac death risk stratification in patients with dilated cardiomyopathy

2021 ◽  
Vol 17 ◽  
Author(s):  
Issa Pour-Ghaz ◽  
Mark Heckle ◽  
Ikechukwu Ifedili ◽  
Sharif Kayali ◽  
Christopher Nance ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Ejection Fraction ◽  
Risk Stratification ◽  
Cardiac Death ◽  
Ventricular Tachyarrhythmia ◽  
Total Mortality ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Icd Therapy

: Implantable cardioverter-defibrillator (ICD) therapy is indicated for patients at risk for sudden cardiac death due to ventricular tachyarrhythmia. The most commonly used risk stratification algorithms use left ventricular ejection fraction (LVEF) to determine which patients qualify for ICD therapy, even though LVEF is a better marker of total mortality than ventricular tachyarrhythmias mortality. This review evaluates imaging tools and novel biomarkers proposed for better risk stratifying arrhythmic substrate, thereby identifying optimal ICD therapy candidates.

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