Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation.
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SUBMITTER: Caiazza M
PROVIDER: S-EPMC8148585 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Despite successful aortic coarctation (CoA) repair, systemic hypertension often recurs which may influence left ventricular (LV) function. We aimed to detect early LV dysfunction using LV global longitudinal strain (GLS) in adults with repaired CoA, and to identify associations with patient and echocardiographic characteristics. In this cross-sectional study, patients with repaired CoA and healthy controls were recruited prospectively. All subjects underwent echocardiography, ECG and blood sampling within 1 day. With speckle-tracking echocardiography, we assessed LV GLS on the apical four-, three- and two-chamber views. We included 150 subjects: 75 patients (57 % male, age 33.4 ± 12.8 years, age at repair 2.5 [IQR: 0.1-11.1] years) and 75 healthy controls of similar sex and age. LV GLS was lower in patients than in controls (-17.1 ± 2.3 vs. -20.2 ± 1.6 %, P < 0.001). Eighty percent of the patients had a normal LV ejection fraction, but GLS was still lower than in controls (P < 0.001). In patients, GLS correlated with systolic and diastolic blood pressure (r = 0.32, P = 0.009; r = 0.31, P = 0.009), QRS duration (r = 0.34, P = 0.005), left atrial dimension (r = 0.27, P = 0.029), LV mass (r = 0.30, P = 0.014) and LV ejection fraction (r = -0.48, P < 0.001). Patients with either associated cardiac lesions, multiple cardiac interventions or aortic valve replacement had lower GLS than patients without. Although the majority of adults with repaired CoA seem to have a normal systolic LV function, LV GLS was decreased. Higher blood pressure, associated cardiac lesions, and larger left atrial dimension are related with lower GLS. Therefore, LV GLS may be used as objective criterion for early detection of ventricular dysfunction.
| S-EPMC4853451 | biostudies-literature
Project description:BackgroundPersistent fifth aortic arch (PFAA) is a rare anomaly often associated with aortic coarctation or interruption, and various surgical techniques for this anomaly have been reported. Herein, we show a case of an infant with PFAA and severe aortic coarctation.Case presentationA 41-day-old female infant was admitted for sustained fever. Initially, the patient was diagnosed with bacterial meningitis, and echocardiography showed PFAA with severe aortic coarctation. Because the patient presented progressive oliguria and metabolic acidosis, she was transferred for emergency cardiac surgical intervention. The aortic arch was reconstructed using end-to-side anastomosis between the fifth aortic arch and the descending aorta without any artificial conduit or patching material.ConclusionsPFAA with aortic coarctation can be repaired by various surgical methods. Among them, our surgical approach is easy and effective, has growth potential, and an additional surgery is not needed.
| S-EPMC8480090 | biostudies-literature
Project description:ObjectivesThe purpose of this retrospective cohort study was to compare remodeling of left ventricular (LV) structure and function after transcatheter stent therapy with remodeling of LV structure and function after surgical therapy for COA.BackgroundTranscatheter stent therapy is as effective as surgery in producing acute hemodynamic improvement in patients with coarctation of aorta (COA). However, LV remodeling after transcatheter COA intervention has not been systematically investigated.MethodsLV remodeling was assessed at 1, 3, and 5 years post-intervention by using LV mass index (LVMI), LV end-diastolic dimension, LV ejection fraction, LV global longitudinal strain (LVGLS), LV mitral annular tissue Doppler early velocity (LVe'), and ratio of mitral inflow pulsed wave Doppler early velocity and e' (E/e') ratio.ResultsThere were 44 patients in the transcatheter group and 128 patients in the surgical group. Compared to the surgical group, the transcatheter group had less regression of LVMI (-4.6; 95% confidence interval [CI]: -5.5 to -3.7 vs. -7.3; 95% CI: -8.4 to -6.6 g/m2; p < 0.001), less improvement in LVGLS (2.1; 95% CI: 1.8 to 2.4 vs. 2.9; 95% CI: 2.6 to 3.2%; p = 0.024), and in e' (1.0 ; 95% CI: 0.7 to 1.2 vs. 1.5 ; 95% CI: 1.3 to 1.7 cm/s; p = 0.009) at 5 years post-intervention. Exploratory analysis showed a correlation between change in LVMI and LVGLS, and between change in LVMI and mitral annular tissue Doppler early velocity (e'), and this correlations were independent of the type of intervention received.ConclusionsTranscatheter stent therapy was associated with less remodeling of LV structure and function during mid-term follow-up. As transcatheter stent therapy becomes more widely used in the adult COA population, there is a need for ongoing clinical monitoring to determine if these observed differences in LV remodeling translate to differences in clinical outcomes.
| S-EPMC7486991 | biostudies-literature
Project description:BackgroundPatients with vascular stiffening may display increased arterial afterload that is out of proportion to systolic blood pressure (SBP). Since vascular and endothelial dysfunction develop in patients with coarctation of aorta (COA), we hypothesized that for any SBP, patients with mild COA (COA peak velocity <2 m/s) will have a higher arterial afterload and increased left ventricular mass index (LVMI) compared with controls, and that Doppler-derived arterial load indices would be a better predictor of LVMI compared with SBP alone.MethodsWe studied 204 COA patients (age 35±12 y) and 204 matched controls. Doppler-derived arterial afterload was assessed using effective arterial elastance index and total arterial compliance index.ResultsDespite similar SBP, the mild COA group displayed higher arterial afterload as evidenced by a higher elastance index (3.3±0.9 versus 2.9±0.7 mm Hg/mL·m2; P<0.001) and lower total arterial compliance index (0.8±0.3 versus 1.2±0.5 mL/mm Hg·m2; P<0.001). This was associated with higher LVMI in COA (109±35 versus 93±32, g/m2; P<0.001). Compared with SBP (?=0.24 [95% CI, 0.02-0.45]), elastance index (?=20.2 [95% CI, 15.8-44.1]) and total arterial compliance index (?=-32.5 [95% CI, -43.8 to -123.6]) were better predictors of LVMI. Elastance index (but not SBP) was predictive of longitudinal increases in LVMI (r=0.43, P<0.001).ConclusionsCOA patients had higher arterial afterload compared with controls with similar SBP. In comparison to SBP, Doppler-derived arterial load indices correlate more strongly with LV hypertrophy. These data suggest that SBP may underestimate LV afterload in this population. This has important clinical implications since titration of antihypertensive therapy is currently based on SBP.
| S-EPMC7034620 | biostudies-literature
Project description: Not available
| S-EPMC5723777 | biostudies-literature
Project description:The left ventricular outflow tract (LVOT) malformations aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) are significant causes of infant mortality. These three malformations are thought to share developmental pathogenetic mechanisms. A strong genetic component has been demonstrated earlier, but the underlying genetic etiologies are unknown. Our objective was to identify genetic susceptibility loci for the broad phenotype of LVOT malformations. We genotyped 411 microsatellites spaced at an average of 10 cM in 43 families constituting 289 individuals, with an additional 5 cM spaced markers for fine mapping. A non-parametric linkage (NPL) analysis of the combined LVOT malformations gave three suggestive linkage peaks on chromosomes 16p12 (NPL score (NPLS)=2.52), 2p23 (NPLS=2.41), and 10q21 (NPLS=2.14). Individually, suggestive peaks for AVS families occurred on chromosomes 16p12 (NPLS=2.64), 7q36 (NPLS=2.31), and 2p25 (NPLS=2.14); and for CoA families on chromosome 1q24 (NPLS=2.61), 6p23 (NPLS=2.29), 7p14 (NPLS=2.27), 10q11 (NPLS=1.98), and 2p15 (NPLS=2.02). Significant NPLS in HLHS families were noted for chromosome 2p15 (NPLS=3.23), with additional suggestive peaks on 19q13 (NPLS=2.16) and 10q21 (NPLS=2.07). Overlapping linkage signals on 10q11 (AVS and CoA) and 16p12 (AVS, CoA, and HLHS) led to higher NPL scores when all malformations were analyzed together. In conclusion, we report suggestive evidence for linkage to chromosomes 2p23, 10q21, and 16p12 for the LVOT malformations of AVS, CoA, and HLHS individually and in a combined analysis, with a significant peak on 2p15 for HLHS. Overlapping linkage peaks provide evidence for a common genetic etiology.
| S-EPMC2916734 | biostudies-literature
Project description:BackgroundHeart failure (HF), is a major public health issue globally. Echocardiography is cost-effective in the diagnosis in expert hands. This study was conducted to estimate the usefulness of Aortic Root Systolic Excursion (ARSE) as a simple and accurate measure to estimate Left Ventricular (LV) function.MethodsThis was a cross-sectional echocardiographic study among adults aged ? 18 years, with or without heart failure, in sinus rhythm, and with no LV out-let obstruction. We studied the correlations of ARSE with some selected indices of LV Systolic Functions. We determined optimal cut-offs of ARSE in detecting LV dysfunction. We generated a simple regression equation to best estimate LV ejection fraction according to the modified Simpson method.ResultsOverall 213 echocardiograms were included from 106 males (49.8%), with mean age of the participants being 52.4 (SD: 18.3) years. The rate of LV systolic dysfunction was highest with Teicholz method (17.4%) and lowest with MAPSE method (5.2%). ARSE correlated with the LV functions. This was highest for the Simpson method (r = 0.619, p<0.001), and lowest for the ITV method (r = 0.319, p<0.001). Optimal cut-offs to detect LV systolic dysfunction was ? 6.6 mm. For an LV ejection fraction < 55%, the sensitivity was 82.9%, and the specificity was 97.2%, with an AUROC of 91.6%.The logarithmic regression equation was best in predicting LV ejection fraction (AUC: 60.2%), followed by the power model (AUC: 56.7%), and the linear model (AUC: 53.6%).ConclusionARSE correlated well with LV systolic function. The cut-off ? 6.5 mm suggest LV systolic dysfunction. LV Ejection Fraction was best estimated with the generic equation: LVEF (%) = 29 x In [ARSE].
| S-EPMC6219773 | biostudies-literature
Project description:ImportanceDiagnosis of low-gradient severe aortic stenosis (AS) is challenging. We hypothesized that the time between left ventricular (LV) and aortic systolic pressure peaks (TLV-Ao) is associated with aortic stenosis (AS) severity and may have additive value in diagnosing severe AS, especially in patients with low-gradient AS.ObjectiveTo investigate the diagnostic utility of measuring catheter-based TLV-Ao in patients with severe AS.Design, setting, and participantsWe studied 123 patients with severe AS at the Cleveland Clinic Foundation, a tertiary referral center, who underwent transcatheter aortic valve replacement (TAVR) via femoral access and had pre-TAVR cardiac computed tomography assessment and hemodynamic measurements recorded during a TAVR procedure. All patients received hemodynamic evaluation, echocardiographic assessment, and quantification of aortic valve calcification (AVC) by multidetector computed tomography. Hemodynamic data were collected via left heart catheterization done just before TAVR, and TLV-Ao was calculated offline. Data were analyzed between October 5, 2015, and July 20, 2016.Main outcomes and measuresThe association between TLV-Ao and AVC or other conventional imaging parameters was analyzed.ResultsOf the included patients, the mean (SD) age was 81 (9) years, and 65 (54%) were men (54%). Among 123 patients, 48 patients (39%) had low-gradient AS (<40 mm Hg) and mean (SD) TLV-Ao was 69 (39) milliseconds. In multivariable logistic regression analyses, higher TLV-Ao (odds ratio [OR], 1.02; 95% CI, 1.01-1.04; P = .002) and higher peak aortic valve (AV) velocity (OR, 1.01; 95% CI, 1.00-1.02; P = .008) were independently associated with severe AVC (AVC >1000 AU). Adding TLV-Ao to the peak AV velocity and AV area showed significant incremental value to be associated with AVC, with a net reclassification improvement of 0.61 (95% CI, 0.23-0.99; P = .002) and integrated discriminatory improvement of 0.09 (95% CI, 0.03-0.16; P = .003). In a subgroup of patients with low-grade AS, higher TLV-Ao was the only parameter associated with severe AVC (OR, 1.02; 95% CI, 1.001-1.04; P = .03).Conclusions and relevanceProlonged TLV-Ao was associated with severe AVC. This catheter-based hemodynamic index may be an additional surrogate to differentiate low-gradient true severe AS. Larger, prospective studies investigating the role of TLV-Ao as a marker of clinical outcomes in patients undergoing TAVR are required.
| S-EPMC6495352 | biostudies-literature
Project description:Importance:Cardiac troponin is associated with incident heart failure and greater left ventricular (LV) mass. Its association with LV systolic and diastolic functions is unclear. Objectives:To define the association of high-sensitivity cardiac troponin T (hs-cTnT) with LV systolic and diastolic functions in the general population, and to evaluate the extent to which that association accounts for the correlation between hs-cTnT concentration and incident heart failure overall, heart failure with preserved LV ejection fraction (LVEF; HFpEF), and heart failure with LVEF less than 50%. Design, Setting, and Participants:This analysis of the Atherosclerosis Risk in Communities (ARIC) Study, an ongoing epidemiologic cohort study in US communities, included participants without cardiovascular disease (n = 4111). Available hs-cTnT measurements for participants who attended ARIC Study visits 2 (1990 to 1992), 4 (1996 to 1998), and 5 (2011 to 2013) were assessed cross-sectionally against echocardiographic measurements taken at visit 5 and against incident health failure after visit 5. Changes in hs-cTnT concentrations from visits 2 and 4 were also examined. Data analyses were performed from August 2017 to July 2018. Main Outcomes and Measures:Cardiac structure and function by echocardiography at visit 5, and incident heart failure during a median 4½ years follow-up after visit 5. Results:Of the 6538 eligible participants, 4111 (62.9%) without cardiovascular disease were included. Among these participants, 2586 (62.9%) were female, and the mean (SD) age was 75 (5) years. Median (interquartile range) hs-cTnT concentration at visit 5 was 9 (7-14) ng/L and was detectable in 3946 participants (96.0%). After adjustment for demographic and clinical covariates, higher hs-cTnT levels were associated with greater LV mass index (adjusted mean [SE] for group 1: 33.8 [0.5] vs group 5: 40.1 [0.4]; P?for trend <?.001) and with worse diastolic function, including lower tissue Doppler imaging e' (6.00 [0.07] vs 5.54 [0.06]; P?for trend <?.001), higher E/e' ratio (11.4 [0.2] vs 12.9 [0.1]; P?for trend <?.001), and greater left atrial volume index (23.4 [0.4] vs 26.4 [0.3]; P?for trend <?.001), independent of LV mass index; hs-cTnT level was not associated with measures of LV systolic function. Accounting for diastolic function attenuated the association of hs-cTnT concentration with incident HFpEF by 41% and the association with combined heart failure with midrange and reduced ejection fraction combined (LVEF <50) by 17%. Elevated hs-cTnT concentration and diastolic dysfunction were additive risk factors for incident heart failure. For any value of late-life hs-cTnT levels, longer duration of detectable hs-cTnT from midlife to late life was associated with greater LV mass in late life but not with worse LV systolic or diastolic function. Conclusions and Relevance:This study shows that higher hs-cTnT concentrations were associated with worse diastolic function, irrespective of LV mass, but not with systolic function; these findings suggest that high levels of hs-cTnT may serve as an early marker of subclinical alterations in diastolic function that may lead to a predisposition to heart failure.
| S-EPMC6727783 | biostudies-literature
Project description:BACKGROUND AND OBJECTIVES:Severe aortic stenosis (AS) with left ventricular systolic dysfunction (LVSD) is a class I indication for aortic valve replacement (AVR) but this recommendation is not well established in those at the stage of moderate AS. We investigate the clinical impact of AVR among patients with moderate AS and LVSD. METHODS:From 2001 to 2017, we consecutively identified patients with moderate AS and LVSD, defined as aortic valve area 1.0-1.5 cm² and left ventricular ejection fraction <50%. The primary outcome was all-cause death. The outcomes were compared between those who underwent early surgical AVR (within 2 years of index echocardiography) at the stage of moderate AS versus those who were followed medically without AVR at the outpatient clinic. RESULTS:Among 255 patients (70.1±11.3 years, male 62%), 37 patients received early AVR. The early AVR group was younger than the medical observation group (63.1±7.9 vs. 71.3±11.4) with a lower prevalence of hypertension and chronic kidney disease. During a median 1.8-year follow up, 121 patients (47.5%) died, and the early AVR group showed a significantly lower all-cause death rate than the medical observation group (5.03PY vs. 18.80PY, p<0.001). After multivariable Cox-proportional hazard regression adjusting for age, sex, comorbidities, and laboratory data, early AVR at the stage of moderate AS significantly reduced the risk of death (hazard ratio, 0.43; 95% confidence interval 0.20-0.91; p=0.028). CONCLUSIONS:In patients with moderate AS and LVSD, AVR reduces the risk of all-cause death. A prospective randomized trial is warranted to confirm our findings.
| S-EPMC7441005 | biostudies-literature