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Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation.

ABSTRACT: Coarctation of the aorta is a leading cause of morbidity and mortality among adults with congenital heart disease (ACHD). Lifelong surveillance is mandatory to screen for possible long-term cardiovascular events. Left ventricular systolic dysfunction has been reported in association with recoarctation, and association with dilated cardiomyopathy (DCMP) is very rare. Herein, we report the case of a 19-year-old boy with coarctation of the aorta who complained of mild exertional dyspnea. Cardiac magnetic resonance revealed a moderately dilated, hypokinetic left ventricle (LV), with mildly reduced EF (45%), and residual isthmic coarctation was excluded. Genetic tests revealed a heterozygous missense variant in TNNT2 (NM_001001430.2): c.518G>A (p. Arg173Gln). This case highlights the role of careful history taking: a family history of cardiomyopathy should not be overlooked even when the clinical setting seems to suggest a predisposition to hemodynamic factors for LVSD.

SUBMITTER: Caiazza M

PROVIDER: S-EPMC8148585 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Quantitative assessment of systolic left ventricular function with speckle-tracking echocardiography in adult patients with repaired aortic coarctation.

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

Perioperative changes in left ventricular systolic function following surgical revascularization.

Project description:BackgroundNearly 1/3rd of patients undergoing coronary artery bypass graft surgery (CABG) have left ventricular systolic dysfunction. However, the extent, direction and implications of perioperative changes in left ventricular ejection fraction (LVEF) have not been well characterized in these patients.MethodsWe studied the changes in LVEF among 549 patients with left ventricular systolic dysfunction (LVEF <50%) who underwent CABG as part of the Surgical Treatment for Ischemic Heart Failure (STICH) trial. Patients had pre- and post-CABG (4 month) LVEF assessments using identical cardiac imaging modality, interpreted at a core laboratory. An absolute change of >10% in LVEF was considered clinically significant.ResultsOf the 549 patients (mean age 61.4±9.55 years, and 72 [13.1%] women), 145 (26.4%) had a >10% improvement in LVEF, 369 (67.2%) had no change and 35 (6.4%) had >10% worsening of LVEF following CABG. Patients with lower preoperative LVEF were more likely to experience an improvement after CABG (odds ratio 1.36; 95% CI 1.21-1.53; per 5% lower preoperative LVEF; p <0.001). Notably, incidence of postoperative improvement in LVEF was not influenced by presence, nor absence, of myocardial viability (25.5% vs. 28.3% respectively, p = 0.67). After adjusting for age, sex, baseline LVEF, and NYHA Class, a >10% improvement in LVEF after CABG was associated with a 57% lower risk of all-cause mortality (HR: 0.43, 95% CI: 0.26-0.71).ConclusionsAmong patients with ischemic cardiomyopathy undergoing CABG, 26.4% had >10% improvement in LVEF. An improvement in LVEF was more likely in patients with lower preoperative LVEF and was associated with improved long-term survival.

| S-EPMC9648779 | biostudies-literature

Persistent fifth aortic arch associated with aortic coarctation: a case of surgical correction without artificial material.

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

Left Ventricular Remodeling After Transcatheter Versus Surgical Therapy in Adults With Coarctation of Aorta.

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

Doppler-Derived Arterial Load Indices Better Reflect Left Ventricular Afterload Than Systolic Blood Pressure in Coarctation of Aorta.

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

Moderate Aortic Valve Stenosis with Left Ventricular Systolic Dysfunction: Potential Role of Early Aortic Valve Replacement.

Project description: Not available

| S-EPMC7440998 | biostudies-literature

The challenge of co-existent moderate aortic stenosis and left ventricular systolic impairment.

Project description: Not available

| S-EPMC5723777 | biostudies-literature

Left Ventricular Systolic Dysfunction in Aortic Stenosis: Pathophysiology, Diagnosis, Management, and Future Directions.

Project description:Degenerative calcific aortic stenosis (AS) is the most common valvular heart disease and often co-exists with left ventricular (LV) systolic dysfunction at the time of diagnosis. Impaired LV systolic function has been associated with worse outcomes in the setting of AS, even after successful aortic valve replacement (AVR). Myocyte apoptosis and myocardial fibrosis are the 2 key mechanisms responsible for the transition from the initial adaptation phase of LV hypertrophy to the phase of heart failure with reduced ejection fraction. Novel advanced imaging methods, based on echocardiography and cardiac magnetic resonance imaging, can detect LV dysfunction and remodeling at an early and reversible stage, with important implications for the optimal timing of AVR especially in patients with asymptomatic severe AS. Furthermore, the advent of transcatheter AVR as a first-line treatment for AS with excellent procedural outcomes, and evidence that even moderate AS portends worse prognosis in heart failure with reduced ejection fraction patients, has raised the question of early valve intervention in this patient population. With this review, we describe the pathophysiology and outcomes of LV systolic dysfunction in the setting of AS, present imaging predictors of LV recovery after AVR, and discuss future directions in the treatment of AS extending beyond the traditional indications defined in the current guidelines.

| S-EPMC10242576 | biostudies-literature

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

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

Correlations of left ventricular systolic function indices with aortic root systolic excursion (ARSE): A cross-sectional echocardiographic study.

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

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