Improving a Deep Learning Model to Accurately Diagnose LVNC.

Accurate diagnosis of Left Ventricular Noncompaction Cardiomyopathy (LVNC) is critical for proper patient treatment but remains challenging. This work improves LVNC detection by improving left ventricle segmentation in cardiac MR images. Trabeculated left ventricle indicates LVNC, but automatic segmentation is difficult. We present techniques to improve segmentation and evaluate their impact on LVNC diagnosis. Three main methods are introduced: (1) using full 800 × 800 MR images rather than 512 × 512; (2) a clustering algorithm to eliminate neural network hallucinations; (3) advanced network architectures including Attention U-Net, MSA-UNet, and U-Net++.Experiments utilize cardiac MR datasets from three different hospitals. U-Net++ achieves the best segmentation performance using 800 × 800 images, and it improves the mean segmentation Dice score by 0.02 over the baseline U-Net, the clustering algorithm improves the mean Dice score by 0.06 on the images it affected, and the U-Net++ provides an additional 0.02 mean Dice score over the baseline U-Net. For LVNC diagnosis, U-Net++ achieves 0.896 accuracy, 0.907 precision, and 0.912 F1-score outperforming the baseline U-Net. Proposed techniques enhance LVNC detection, but differences between hospitals reveal problems in improving generalization. This work provides validated methods for precise LVNC diagnosis.

Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation.

AIMS: Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to describe LGE patterns according to genotypes and to analyse the risk of major ventricular arrhythmias (MVA) according to patterns. METHODS AND RESULTS: Cardiac magnetic resonance findings and LGE distribution according to genetics were performed in a cohort of 600 DCM patients followed at 20 Spanish centres. After exclusion of individuals with multiple causative gene variants or with variants in infrequent DCM-causing genes, 577 patients (34% females, mean age 53.5 years, left ventricular ejection fraction 36.9 ± 13.9%) conformed to the final cohort. A causative genetic variant was identified in 219 (38%) patients, and 147 (25.5%) had LGE. Significant differences were found comparing LGE patterns between genes (P < 0.001). LGE was absent or rare in patients with variants in TNNT2, RBM20, and MYH7 (0, 5, and 20%, respectively). Patients with variants in DMD, DSP, and FLNC showed a predominance of LGE subepicardial patterns (50, 41, and 18%, respectively), whereas patients with variants in TTN, BAG3, LMNA, and MYBPC3 showed unspecific LGE patterns. The genetic yield differed according to LGE patterns. Patients with subepicardial, lineal midwall, transmural, and right ventricular insertion points or with combinations of LGE patterns showed an increased risk of MVA compared with patients without LGE. CONCLUSION: LGE patterns in DCM have a specific distribution according to the affected gene. Certain LGE patterns are associated with an increased risk of MVA and with an increased yield of genetic testing.

Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy.

AIMS: Genotype and left ventricular scar on cardiac magnetic resonance (CMR) are increasingly recognized as risk markers for adverse outcomes in non-ischaemic dilated cardiomyopathy (DCM). We investigated the combined influence of genotype and late gadolinium enhancement (LGE) in assessing prognosis in a large cohort of patients with DCM. METHODS AND RESULTS: Outcomes of 600 patients with DCM (53.3 ± 14.1 years, 66% male) who underwent clinical CMR and genetic testing were retrospectively analysed. The primary endpoints were end-stage heart failure (ESHF) and malignant ventricular arrhythmias (MVA). During a median follow-up of 2.7 years (interquartile range 1.3-4.9), 24 (4.00%) and 48 (8.00%) patients had ESHF and MVA, respectively. In total, 242 (40.3%) patients had pathogenic/likely pathogenic variants (positive genotype) and 151 (25.2%) had LGE. In survival analysis, positive LGE was associated with MVA and ESHF (both, p < 0.001) while positive genotype was associated with ESHF (p = 0.034) but not with MVA (p = 0.102). Classification of patients according to genotype (G+/G-) and LGE presence (L+/L-) revealed progressively increasing events across L-/G-, L-/G+, L+/G- and L+/G+ groups and resulted in optimized MVA and ESHF prediction (p < 0.001 and p = 0.001, respectively). Hazard ratios for MVA and ESHF in patients with either L+ or G+ compared with those with L-/G- were 4.71 (95% confidence interval: 2.11-10.50, p < 0.001) and 7.92 (95% confidence interval: 1.86-33.78, p < 0.001), respectively. CONCLUSION: Classification of patients with DCM according to genotype and LGE improves MVA and ESHF prediction. Scar assessment with CMR and genotyping should be considered to select patients for primary prevention implantable cardioverter-defibrillator placement.

Left ventricular non-compaction cardiomyopathy automatic diagnosis using a deep learning approach.

BACKGROUND AND OBJECTIVE: Left ventricular non-compaction (LVNC) is an uncommon cardiomyopathy characterised by a thick and spongy left ventricle wall caused by the high presence of trabeculae (hyper-trabeculation). Recently, the percentage of the trabecular volume to the total volume of the external wall of the left ventricle (VT%) has been proposed to diagnose this illness. METHODS: This paper presents the use of a deep learning-based method to measure the (VT%) value and diagnose this rare cardiomyopathy. The population used in this research was composed of 277 patients suffering from hypertrophic cardiomyopathy. 134 patients only suffered hypertrophic cardiomyopathy, and 143 also suffered left ventricular non-compaction. Our deep learning solution is based on a 2D U-Net. This artificial neural network (ANN) was trained on short-axis magnetic resonance imaging to segment the left ventricle's internal cavity, external wall, and trabecular tissue. 5-fold cross-validation was performed to ensure the robustness of the results. The Dice coefficient of the three classes was computed as a measure of the precision of the segmentation. Based on this segmentation, the percentage of the trabecular volume (VT%) was computed. Two specialist cardiologists rated the segmentation produced by the neural network for 25 patients to evaluate the clinical validity of the outputs. The computed VT% was used to automatically diagnose the 277 patients depending on whether or not a given threshold was exceeded. A receiver operating characteristic analysis was also performed. RESULTS: According to the cross-validation results, the average and standard deviation of the Dice coefficient for the internal cavity, external wall, and trabeculae were 0.96±0.00, 0.89±0.00, and 0.84±0.00, respectively. The cardiologists rated 99.5% of the evaluated segmentations as clinically valid for diagnosis, outperforming existing automatic traditional tools. The area under the ROC curve was 0.94 (95% confidence interval, 0.91-0.96). The accuracy, sensitivity, and specificity values of diagnosis using a threshold of 25% were 0.87, 0.93, and 0.80, respectively. CONCLUSIONS: The U-Net neural network can achieve excellent results in the delineation of different cardiac structures of short-axis cardiac MRI. The high-quality segmentation allows for the correct measurement of left ventricular hyper-trabeculation and a definitive diagnosis of LVNC illness. Using this kind of solution could lead to more objective and faster analysis, reducing human error and time spent by cardiologists.

Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.

BACKGROUND: Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis. OBJECTIVES: This study sought to develop and validate a prediction model of major adverse cardiovascular events (MACE) and to identify LVNC cases without events during long-term follow-up. METHODS: This is a retrospective longitudinal multicenter cohort study of consecutive patients fulfilling LVNC criteria by echocardiography or cardiovascular magnetic resonance. MACE were defined as heart failure (HF), ventricular arrhythmias (VAs), systemic embolisms, or all-cause mortality. RESULTS: A total of 585 patients were included (45 ± 20 years of age, 57% male). LV ejection fraction (LVEF) was 48% ± 17%, and 18% presented late gadolinium enhancement (LGE). After a median follow-up of 5.1 years, MACE occurred in 223 (38%) patients: HF in 110 (19%), VAs in 87 (15%), systemic embolisms in 18 (3%), and 34 (6%) died. LVEF was the main variable independently associated with MACE (P < 0.05). LGE was associated with HF and VAs in patients with LVEF >35% (P < 0.05). A prediction model of MACE was developed using Cox regression, composed by age, sex, electrocardiography, cardiovascular risk factors, LVEF, and family aggregation. C-index was 0.72 (95% confidence interval: 0.67-0.75) in the derivation cohort and 0.72 (95% confidence interval: 0.71-0.73) in an external validation cohort. Patients with no electrocardiogram abnormalities, LVEF ≥50%, no LGE, and negative family screening presented no MACE at follow-up. CONCLUSIONS: LVNC is associated with an increased risk of heart failure and ventricular arrhythmias. LVEF is the variable most strongly associated with MACE; however, LGE confers additional risk in patients without severe systolic dysfunction. A risk prediction model is developed and validated to guide management.

Towards an Enhanced Tool for Quantifying the Degree of LV Hyper-Trabeculation.

Left ventricular non-compaction (LVNC) is defined by an increase of trabeculations in left ventricular (LV) endomyocardium. Although LVNC can be in isolation, an increase in hypertrabeculation often accompanies genetic cardiomyopathies. Current methods for quantification of LV trabeculae have limitations. Several improvements are proposed and implemented to enhance a software tool to quantify the trabeculae degree in the LV myocardium in an accurate and automatic way for a population of patients with genetic cardiomyopathies (QLVTHCI). The software tool is developed and evaluated for a population of 59 patients (470 end-diastole cardiac magnetic resonance images). This tool produces volumes of the compact sector and the trabecular area, the proportion between these volumes, and the left ventricular and trabeculated masses. Substantial enhancements are obtained over the manual process performed by cardiologists, so saving important diagnosis time. The parallelization of the detection of the external layer is proposed to ensure real-time processing of a patient, obtaining speed-ups from 7.5 to 1500 with regard to QLVTHCI and the manual process used traditionally by cardiologists. Comparing the method proposed with the fractal proposal to differentiate LVNC and non-LVNC patients among 27 subjects with previously diagnosed cardiomyopathies, QLVTHCI presents a full diagnostic accuracy, while the fractal criteria achieve 78%. Moreover, QLTVHCI can be installed and integrated in hospitals on request, whereas the high cost of the license of the fractal method per year of this tool has prevented reproducibility by other medical centers.

Rendimiento de un nuevo software para la cuantificación automática de trabeculaciones en el ventrículo izquierdo / Performance of a new software tool for automatic quantification of left ventricular trabeculations

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Nueva mutación fundadora en MYBPC3: comparación fenotípica con la mutación de MYBPC3 más frecuente en España / A novel founder mutation in MYBPC3: Phenotypic comparison with the most prevalent MYBPC3 mutation in Spain

Introducción y objetivos: Las mutaciones en MYBPC3 son causa de miocardiopatía hipertrófica (MCH). A pesar de que la mayoría de ellas producen una proteína truncada, la gravedad del fenotipo es diversa. Se describe el fenotipo clínico de una nueva mutación en MYBPC3, p.Pro108Alafs*9, presente en 13 familias del sur de España, y se compara con la mutación de MYBPC3 con mayor prevalencia en dicha región (c.2308 + 1 G > A). Métodos: Se estudió a 107 familiares de 13 casos índice que tenían diagnóstico de MCH y portaban la mutación p.Pro108Alafs*9. Se realizó un análisis del árbol genealógico, junto con una evaluación clínica y determinación del genotipo. Resultados: Se identificó en total a 54 portadores de la mutación p.Pro108Alafs*9, de los que 39 tenían MCH. Hubo 5 casos de muerte súbita en las 13 familias. La penetrancia de la enfermedad aumentaba a medida que se incrementaba la edad, y los pacientes con MCH fueron con más frecuencia varones, y estos contrajeron la enfermedad más precozmente que las mujeres. El fenotipo fue similar en la p.Pro108Alafs*9 y la c.2308 + 1 G > A, pero se observaron diferencias en varios factores de riesgo y en la supervivencia. Hubo tendencia a mayor masa ventricular izquierda en la p.Pro108Alafs*9 que en la c.2308 + 1G > A. La resonancia magnética cardiaca reveló una extensión y un patrón de fibrosis similares en ambas. Conclusiones: La mutación p.Pro108Alafs*9 se asoció a MCH, alta penetrancia y aparición de la enfermedad a mediana edad (AU)

Introduction and objectives: Mutations in MYBPC3 are the cause of hypertrophic cardiomyopathy (HCM). Although most lead to a truncating protein, the severity of the phenotype differs. We describe the clinical phenotype of a novel MYBPC3 mutation, p.Pro108Alafs*9, present in 13 families from southern Spain and compare it with the most prevalent MYBPC3 mutation in this region (c.2308 + 1 G > A). Methods: We studied 107 relatives of 13 index cases diagnosed as HCM carriers of the p.Pro108Alafs*9 mutation. Pedigree analysis, clinical evaluation, and genotyping were performed. Results: A total of 54 carriers of p.Pro108Alafs*9 were identified, of whom 39 had HCM. There were 5 cases of sudden death in the 13 families. Disease penetrance was greater as age increased and HCM patients were more frequently male and developed disease earlier than female patients. The phenotype was similar in p.Pro108Alafs*9 and in c.2308 + 1 G > A, but differences were found in several risk factors and in survival. There was a trend toward a higher left ventricular mass in p.Pro108Alafs*9 vs c.2308 + 1G > A. Cardiac magnetic resonance revealed a similar extent and pattern of fibrosis. Conclusions: The p.Pro108Alafs*9 mutation is associated with HCM, high penetrance, and disease onset in middle age (AU)

A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.

INTRODUCTION AND OBJECTIVES: Mutations in MYBPC3 are the cause of hypertrophic cardiomyopathy (HCM). Although most lead to a truncating protein, the severity of the phenotype differs. We describe the clinical phenotype of a novel MYBPC3 mutation, p.Pro108Alafs*9, present in 13 families from southern Spain and compare it with the most prevalent MYBPC3 mutation in this region (c.2308+1 G>A). METHODS: We studied 107 relatives of 13 index cases diagnosed as HCM carriers of the p.Pro108Alafs*9 mutation. Pedigree analysis, clinical evaluation, and genotyping were performed. RESULTS: A total of 54 carriers of p.Pro108Alafs*9 were identified, of whom 39 had HCM. There were 5 cases of sudden death in the 13 families. Disease penetrance was greater as age increased and HCM patients were more frequently male and developed disease earlier than female patients. The phenotype was similar in p.Pro108Alafs*9 and in c.2308+1 G>A, but differences were found in several risk factors and in survival. There was a trend toward a higher left ventricular mass in p.Pro108Alafs*9 vs c.2308+1G>A. Cardiac magnetic resonance revealed a similar extent and pattern of fibrosis. CONCLUSIONS: The p.Pro108Alafs*9 mutation is associated with HCM, high penetrance, and disease onset in middle age.

Three-Dimensional Morphology of the Left Ventricular Outflow Tract: Impact on Grading Aortic Stenosis Severity.

BACKGROUND: Left ventricular outflow tract (LVOT) measurement is a critical step in the quantification of aortic valve area. The assumption of a circular morphology of the LVOT may induce some errors. The aim of this study was to assess the three-dimensional (3D) morphology of the LVOT and its impact on grading aortic stenosis severity. METHODS: Fifty-eight patients with aortic stenosis were studied retrospectively. LVOT dimensions were measured using 3D transesophageal echocardiography at three levels: at the hinge points (HP) of the aortic valve and at 4 and 8 mm proximal to the annular plane. Results were compared with standard two-dimensional echocardiographic measurements. RESULTS: Three-dimensional transesophageal echocardiography showed a funnel shape that was more circular at the HP and more elliptical at 4 and 8 mm proximal to the annular plane (circularity index = 0.92 vs 0.83 vs 0.76, P < .001). Cross-sectional area was smaller at the HP and larger at 4 and 8 mm from the annular plane (3.6 vs 3.9 vs 4.1 cm2, P = .001). The best correlation between two-dimensional and 3D transesophageal echocardiographic dimensions was at the HP (intraclass correlation coefficient = 0.75; 95% CI, 0.59-0.86). When the HP approach was selected, there was a reduction in the percentage of patients with low flow (from 41% to 29%). CONCLUSIONS: A large portion of patients with aortic stenosis have funnel-shaped and elliptical LVOTs, a morphology that is more pronounced in the region farther from the annular plane. Two-dimensional LVOT measurement closer to the annular plane has the best correlation with 3D measurements. Measurement of the LVOT closer to the annular plane should be encouraged to reduce measurement errors.

Genetics of myocarditis in arrhythmogenic right ventricular dysplasia.

BACKGROUND: Myocarditis occasionally is related to arrhythmogenic right ventricular dysplasia (ARVD) and sometimes overlaps during the early stages, which may lead to misdiagnosis. Acute myocarditis may reflect an active phase of ARVD. OBJECTIVE: The purpose of this study was to evaluate the genetic basis of myocarditis in ARVD and to investigate the association with a poorer prognosis and a higher risk of ventricular arrhythmias. METHODS: Two groups were analyzed: group A, which consisted of 131 affected patients-84 with ARVD (62% male, age 45 years [range 33-55 years]) and 47 with left-sided forms (arrhythmogenic left ventricular dysplasia [ALVD]) (47% male, age 45 years [range 25-61 years]); and group B, which consisted of 64 nonaffected mutation-carrying relatives (36% male, age 42 years [range 22-56 years]; 23 from classic ARVD families and 41 from ALVD families). RESULTS: Seven patients (3.5%) presented with a clinical diagnosis of acute myocarditis over median follow-up of 34 months. Myocarditis was the first clinical presentation in 6 of 7 cases. In 2 patients, acute myocarditis preceded worsening of left ventricular systolic function. In 1 case, myocarditis was associated with an increased gadolinium pattern in cardiac magnetic resonance. Two patients presented with ECG changes weeks after myocarditis resolution. Myocarditis preceded the development of ventricular tachycardia in 2 other patients. Myocarditis clustered in families bearing DSP Q447* and LDB3 c.1051A>G. CONCLUSION: Acute myocarditis reflects an active phase of ARVD that leads to changes in phenotype and abrupt progression of the disease. An active phase should be suspected in a patient with myocarditis associated with a family history of ARVD. Certain mutations may increase the susceptibility to superimposed myocarditis in ARVD.

Aortic valve stenosis planimetry by means of three-dimensional transesophageal echocardiography in the real clinical setting: feasibility, reliability and systematic deviations.

AIMS: To assess the feasibility and reliability of aortic valve area (AVA) planimetry by means of three-dimensional transesophageal echocardiography (3DTEE) as compared with the transthoracic echocardiogram (TTE) calculation of AVA, to determine the systematic deviations between measurements, and to describe the distribution of mean systolic in relation with 3DTEE anatomical AVA. METHODS AND RESULTS: Three hundred seven patients with aortic valve stenosis (AVS) underwent both TTE and 3DTEE for AVA measurement by means of the continuity equation and direct anatomical planimetry, respectively. AVA planimetry was achieved in 282 (91.9%) of patients. Severity of the aortic valve calcification was independently associated with a poorer performance of planimetry. Intraclass correlation coefficient yielded a 0.848 (95% CI: 0.807-0.879) value. 3DTEE rendered a mild constant underestimation of AVA in comparison with TTE. Severe aortic stenosis according to the area criterion (<1 cm(2) ) despite mean systolic gradient below 40 mm Hg was detected in 37.6% of the study population, and in 33.7% of the subset of patients with preserved left ventricular ejection fraction. CONCLUSIONS: Reliability of AVA planimetry by 3DTEE in comparison with the calculation by TTE is good, but 3DTEE underestimates slightly the measurement. Feasibility of the technique is good but independently affected by valvular calcification. Inconsistent classification of AVS severity as graded by AVA or mean systolic gradient is observed in the overall population and in patients with preserved systolic function.

Influence of aortic regurgitation after TAVI on left ventricular filling pattern.

BACKGROUND: Paravalvular aortic regurgitation after transcatheter aortic valve implantation is associated with a hemodynamic deterioration and a poor outcome. We aim to determine the early hemodynamic effect of paravalvular aortic regurgitation in relation with the change in the left ventricle filling pattern and to assess their clinical outcome. MATERIAL AND METHODS: Eighty-two consecutive patients referred for transcatheter aortic valve implantation were included. Patients were classified according to the change in the left ventricular filling pattern, and significant paravalvular aortic regurgitation (grade ≥ 2) was reported. Follow-up and incidence of death and hospitalization for heart failure were reported. RESULTS: Sixteen patients (19·5%) presented a worsening of left ventricular filling pattern. The incidence of significant paravalvular aortic regurgitation was higher in the group with a worsening of left ventricular filling pattern (56·3% vs. 19·7%; P = 0·009). In the multivariate analysis, the only variable significantly associated with the worsening of left ventricular filling pattern was the significant paravalvular aortic regurgitation (OR 4·84; 95% CI 1·23 - 19·1; P = 0·024). During the follow-up (642·5 days), there was a higher incidence of the endpoint of death or hospitalization for heart failure in the group with a worsening of left ventricular filling pattern (62·5% vs. 31·8%; P = 0·042) and a lower event-free survival rate (long rank test = 0·013). CONCLUSIONS: The presence of a significant paravalvular aortic regurgitation is associated with a worsening in parameters of diastolic function. This finding should alert the cardiologist as patients with a worsening of left ventricular filling pattern present a higher incidence of paravalvular aortic regurgitation and a less favourable outcome.

Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.

AIMS: Risk stratification for sudden death in arrhythmogenic right ventricular cardiomyopathy (ARVC) is challenging in clinical practice. We lack recommendations for the risk stratification of exclusive left-sided phenotypes. The aim of this study was to investigate genotype-phenotype correlations in patients carrying a novel DSP c.1339C>T, and to review the literature on the clinical expression and the outcomes in patients with DSP truncating mutations. METHODS AND RESULTS: Genetic screening of the DSP gene was performed in 47 consecutive patients with a phenotype of either an ARVC (n = 24) or an idiopathic dilated cardiomyopathy (DCM), who presented with ventricular arrhythmias or a family history of sudden death (n = 23) (aged 40 ± 19 years, 62% males). Three unrelated probands with DCM were found to be carriers of a novel mutation (c.1339C>T). Cascade family screening led to the identification of 15 relatives who are carriers. Penetrance in c.1339C>T carriers was 83%. Sustained ventricular tachycardia was the first clinical manifestation in six patients and nine patients were diagnosed with left ventricular impairment (two had overt severe disease and seven had a mild dysfunction). Cardiac magnetic resonance revealed left ventricular involvement in nine cases and biventricular disease in three patients. Extensive fibrotic patterns in six and non-compaction phenotype in five patients were the hallmark in imaging. CONCLUSION: DSP c.1339C>T is associated with an aggressive clinical phenotype of left-dominant arrhythmogenic cardiomyopathy and left ventricular non-compaction. Truncating mutations in desmoplakin are consistently associated with aggressive phenotypes and must be considered as a risk factor of sudden death. Since ventricular tachycardia occurs even in the absence of severe systolic dysfunction, an implantable cardioverter-defibrillator should be indicated promptly.

Estenosis aórtica grave con bajo gradiente y fracción de eyección normal: una cuestión de mala clasificación / Severe aortic valve stenosis with low-gradient and preserved ejection fraction: a misclassification issue

Introducción y objetivos. La estenosis aórtica grave con gradientes bajos y fracción de eyección normal es una entidad discutida. Las discrepancias sobre su pronóstico indican que podría tratarse de una incorrecta clasificación de su gravedad. La planimetría del área aórtica mediante ecografía transesofágica tridimensional podría esclarecer estas dudas. Los objetivos de este trabajo son valorar la concordancia de la medida del área valvular aórtica obtenida mediante ecuación de continuidad en ecocardiografía transtorácica y la obtenida por planimetría mediante ecocardiografía transesofágica tridimensional en pacientes con estenosis aórtica grave y bajo gradiente paradójico. Métodos. Estudio transversal descriptivo de pacientes consecutivos remitidos por estenosis aórtica grave, a los que se practicó ecocardiografía transtorácica y transesofágica tridimensional. Se consideró estenosis aórtica con bajo gradiente paradójico la presencia de un área efectiva < 1 cm2, gradiente ventricular medio < 40 mmHg y fracción de eyección >= 50%. Se estudió la concordancia entre las dos técnicas. Resultados. Estudiamos a 212 pacientes consecutivos con estenosis aórtica grave. De ellos, 63 casos (29,7%) satisfacían los criterios de bajo gradiente paradójico y en 61 se obtuvieron imágenes adecuadas para la comparación de los métodos. La planimetría tridimensional confirmó un área valvular < 1 cm2 en 52 pacientes (85,2%). El coeficiente de correlación intraclase entre las técnicas fue 0,505 (intervalo de confianza del 95%, 0,290-0,671; p < 0,001). Conclusiones. La estenosis aórtica grave con bajo gradiente paradójico es una entidad real que se confirma en el 85% de los pacientes evaluados mediante ecocardiografía transesofágica tridimensional (AU)

Introduction and objectives. Low-gradient severe aortic stenosis with preserved ejection fraction is a controversial entity. Misclassification of valvulopathy severity could explain the inconsistencies reported in the prognosis of these patients. Planimetry of the aortic area using three-dimensional transesophageal echocardiography could clear up these doubts. The objectives were to assess the agreement between measurements of the valvular aortic area by continuity equation in transthoracic echocardiography and that obtained through planimetry with three-dimensional transesophageal echocardiography in low-gradient severe aortic stenosis patients. Methods. Cross-sectional descriptive study of consecutive patients referred due to severe aortic stenosis. Patients underwent transthoracic echocardiography and three-dimensional transesophageal echocardiography. Paradoxical low-gradient severe aortic stenosis was defined by the presence in the transthoracic echocardiography of aortic valve area<1 cm2, mean ventricular gradient<40mmHg, and ejection fraction >=50%. Concordance between the two techniques was evaluated. Results. Of 212 consecutive severe aortic stenosis patients evaluated, 63 cases (29.7%) fulfilled the paradoxical low-gradient inclusion criteria. We obtained three-dimensional aortic valve planimetry in 61 (96.8%) of those patients. In 52 patients (85.2%), aortic valve area by transesophageal echocardiography was <1 cm2. The intraclass correlation coefficient between the two methods was 0.505 (95% confidence interval, 0.290-0.671; P<.001). Conclusions. Paradoxical low-gradient severe aortic stenosis is an actual entity, confirmed in 85% of cases evaluated by three-dimensional transesophageal echocardiography (AU)

Severe aortic valve stenosis with low-gradient and preserved ejection fraction: a misclassification issue?

INTRODUCTION AND OBJECTIVES: Low-gradient severe aortic stenosis with preserved ejection fraction is a controversial entity. Misclassification of valvulopathy severity could explain the inconsistencies reported in the prognosis of these patients. Planimetry of the aortic area using three-dimensional transesophageal echocardiography could clear up these doubts. The objectives were to assess the agreement between measurements of the valvular aortic area by continuity equation in transthoracic echocardiography and that obtained through planimetry with three-dimensional transesophageal echocardiography in low-gradient severe aortic stenosis patients. METHODS: Cross-sectional descriptive study of consecutive patients referred due to severe aortic stenosis. Patients underwent transthoracic echocardiography and three-dimensional transesophageal echocardiography. Paradoxical low-gradient severe aortic stenosis was defined by the presence in the transthoracic echocardiography of aortic valve area<1 cm(2), mean ventricular gradient<40 mmHg, and ejection fraction ≥ 50%. Concordance between the two techniques was evaluated. RESULTS: Of 212 consecutive severe aortic stenosis patients evaluated, 63 cases (29.7%) fulfilled the paradoxical low-gradient inclusion criteria. We obtained three-dimensional aortic valve planimetry in 61 (96.8%) of those patients. In 52 patients (85.2%), aortic valve area by transesophageal echocardiography was <1 cm(2). The intraclass correlation coefficient between the two methods was 0.505 (95% confidence interval, 0.290-0.671; P<.001). CONCLUSIONS: Paradoxical low-gradient severe aortic stenosis is an actual entity, confirmed in 85% of cases evaluated by three-dimensional transesophageal echocardiography.

Penetrance and risk profile in inherited cardiac diseases studied in a dedicated screening clinic.

Genetically transmitted cardiomyopathies can affect several members in a family. Identification of high-risk patients could lead to a preventive treatment. We report the results of a 5-year experience of a dedicated clinic. Family screening was offered to 493 consecutive unrelated patients; 2,328 subjects (40 +/- 19 years old, 52% men) were evaluated (mean 4.4 relatives/family). Electrocardiography and echocardiography were performed in all cases; additional tests were indicated depending on the disease. Familial study was recommended because of a proband with hypertrophic cardiomyopathy (HC) in 57%, idiopathic dilated cardiomyopathy (IDC) in 14%, arrhythmogenic right ventricular cardiomyopathy (ARVC) in 2%, left ventricular noncompaction in 2%, Brugada syndrome (BS) in 15%, long QT syndrome (LQTS) in 3%, and other conditions in 6%. Familial disease was confirmed in 164 (39%); 43% with HC, 47% with IDC, 25% with ARVC, 33% with left ventricular noncompaction, 28% with BS, and 30% with LQTS. Two hundred twenty-two (44 +/- 20 years old, 60% men) affected relatives were identified (129 of whom were newly diagnosed). Sixty-four patients were newly diagnosed with HC, 40 with IDC, 2 with ARVC, 5 with left ventricular noncompaction, 14 with BS, and 2 with LQTS, in whom appropriate risk stratification and medication, if needed, were initiated (specific medication in 40, 31.0%). Cardioverter-defibrillator implantation was indicated in 4 relatives for primary prevention. Ninety-two (18.7%) had a family history of sudden death (FHSCD). Consanguinity was rare but significantly associated to a higher percentage of family disease (75.0% vs 38.3%, p = 0.003) and family history of sudden death (42.1% vs 17.8, p <0.001). In conclusion, the prevalence of familial disease in inherited cardiac conditions is high. Systematic familial study identified many asymptomatic affected patients who could benefit from early treatment to prevent complications. Dedicated clinics and multidisciplinary teams are needed for proper screening programs.