scholarly journals Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

2020 ◽  
Vol 13 (10) ◽  
Author(s):  
Mohammed Majid Akhtar ◽  
Massimiliano Lorenzini ◽  
Marcos Cicerchia ◽  
Juan Pablo Ochoa ◽  
Thomas Morris Hey ◽  
...  
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Reverse Remodeling ◽  
Ventricular Ejection Fraction ◽  
End Point ◽  
Left Ventricular Reverse Remodeling ◽  
Malignant Ventricular Arrhythmia

Background: Truncating variants in the TTN gene (TTNtv) are the commonest cause of heritable dilated cardiomyopathy. This study aimed to study the phenotypes and outcomes of TTNtv carriers. Methods: Five hundred thirty-seven individuals (61% men; 317 probands) with TTNtv were recruited in 14 centers (372 [69%] with baseline left ventricular systolic dysfunction [LVSD]). Baseline and longitudinal clinical data were obtained. The primary end point was a composite of malignant ventricular arrhythmia and end-stage heart failure. The secondary end point was left ventricular reverse remodeling (left ventricular ejection fraction increase by ≥10% or normalization to ≥50%). Results: Median follow-up was 49 (18–105) months. Men developed LVSD more frequently and earlier than women (45±14 versus 49±16 years, respectively; P =0.04). By final evaluation, 31%, 45%, and 56% had atrial fibrillation, frequent ventricular ectopy, and nonsustained ventricular tachycardia, respectively. Seventy-six (14.2%) individuals reached the primary end point (52 [68%] end-stage heart failure events, 24 [32%] malignant ventricular arrhythmia events). Malignant ventricular arrhythmia end points most commonly occurred in patients with severe LVSD. Male sex (hazard ratio, 1.89 [95% CI, 1.04–3.44]; P =0.04) and left ventricular ejection fraction (per 10% decrement from left ventricular ejection fraction, 50%; hazard ratio, 1.63 [95% CI, 1.30–2.04]; P <0.001) were independent predictors of the primary end point. Two hundred seven of 300 (69%) patients with LVSD had evidence of left ventricular reverse remodeling. In a subgroup of 29 of 74 (39%) patients with initial left ventricular reverse remodeling, there was a subsequent left ventricular ejection fraction decrement. TTNtv location was not associated with statistically significant differences in baseline clinical characteristics, left ventricular reverse remodeling, or outcomes on multivariable analysis ( P =0.07). Conclusions: TTNtv is characterized by frequent arrhythmia, but malignant ventricular arrhythmias are most commonly associated with severe LVSD. Male sex and LVSD are independent predictors of outcomes. Mutation location does not impact clinical phenotype or outcomes.

P942Impact of left ventricular ejection fraction in patients with critical limb ischemia: from I-PAD registry

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
K Fujimori ◽  
A Nagae ◽  
T Miura ◽  
T Katoh ◽  
M Hirabayashi ◽  
...  
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Critical Limb Ischemia ◽  
Limb Ischemia ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
End Point

Abstract Introduction In patients with critical limb ischemia (CLI) it is known that malnutrition, low BMI, inflammation and so on are prognostic factors. But, it is unclear whether left ventricular ejection fraction (LVEF) affects prognosis of CLI patients. So we investigated that LVEF affects prognosis of CLI patients. Methods From July 2015 to July 2016, 371 consecutive peripheral artery disease patients who performed endovascular treatment (EVT) were enrolled in I-PAD registry. 179 of them were patients with CLI. We could conduct follow up survey about 126 (age 75.5±11.1, men 63.5%) and divided two groups according to their LVEF (group with LVEF≤40%, n=13, group without LVEF≤40%, n=113). The primary end point was major adverse limb events (MALE: TLR, TVR, major amputations) and secondary end point was all-cause death. Results The median follow-up period was 11.5±6.7 months. The 18 months MALE rate was significant higher in the group with low LVEF than group without low LVEF (76.9% vs 37.2% p<0.05). The 18months all-cause death tended to be higher in the group with low LVEF, however there was not statistical significance in the two groups (53.8% vs 24.8% p=0.09). Conclusion LVEF was associated with MALE in patients with CLI.

scholarly journals The prognostic value of the method for determining the estimated glomerular filtration rate in chronic heart failure with a preserved left ventricular ejection fraction: focus on cystatin C

Kardiologiia ◽  
2019 ◽  
Vol 59 (11S) ◽  
pp. 69-76
Author(s):  
T. A. Nikiforova ◽  
D. Yu. Shchekochikhin ◽  
H. Manaa ◽  
A. A. Lomonosova ◽  
N. L. Kozlovskaya ◽  
...  
Keyword(s):  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Cystatin C ◽  
Prognostic Value ◽  
Estimated Glomerular Filtration Rate ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
End Point

The aim of the present study is to determine the prognostic value of GFR reduction according to the CKD-EPI formula, taking into account blood creatinine and a formula that simultaneously takes into account creatinine and cystatin C in patients who were hospitalized for the first time due to decompensation of chronic heart failure with a preserved left ventricular ejection fraction (HFSA) observation within 24 months. Materials and methods. The study included 117 patients (women – 65.8%, mean age 71.6 ± 9.1 years) hospitalized due to debugging of CHF and having a preserved left ventricular ejection fraction according to echocardiography. The study was a prospective observation for 2 years after the inclusion of each patient. On the first day of hospitalization, all serum samples were taken to determine the level of cystatin C. The estimated glomerular filtration rate (eGFR) was determined using the CKD-EPI formula, taking into account blood creatinine and the combined formula, including creatinine and cystatin C. The combination was used as an end point death and re-hospitalization within two years of follow-up. To determine the effect of a decrease in eGFR on the forecast, the Kaplan–Maer method and the log-rank test were used. Differences were considered statistically significant at p<0.05. The study was approved by the local ethics committee. Results. During the observation period, the mortality rate was almost 12%. At the same time, every third patient was repeatedly hospitalized within two years. In order to determine the effect of reducing GFR on reaching the end points, all patients were divided into groups with eGFR values of more or less than 45 ml/min/1.73 sq.m according to both formulas. When separating patients using the CKD-EPI formula, which includes only creatinine, the groups did not differ in terms of the frequency of reaching the combined end point, as well as its components: death and re-hospitalization. However, patients with eGFR values less than 45 ml/min/1.73 sq. M according to the combined formula data significantly more often reached the combined end point, mainly due to an increase in mortality. Conclusion. The data obtained suggest that adding cystatin C to the CKD-EPI formula and appropriately identifying patients with reduced eGFR has a high prognostic value for stratifying the risk of an unfavorable outcome after the first decompensation of HFSSFV.

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