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Aortic coarctation (COA) is frequent congenital heart disease. It can be difficult to assess the indication for intervention or re-intervention in some cases. Exercise stress echocardiography (ESE) can be helpful for hemodynamic evaluation in patients with COA or reCOA. We aimed to determine ESE parameters predictive of intervention (angioplasty or surgery). We retrospectively reviewed 94 ESE performed in children (n = 14) and adults with native or repaired CoA and unclear indication for intervention in three centers in France. Exercise test was performed concomitantly to echocardiography on the e-bike in semi-lying position. The protocol was adapted according to the age and the physical condition. Echocardiography protocol included left ventricular adaptation (LVA) to effort and peak systolic gradient (PSG) at isthmus and appearance of diastolic tail during effort. We investigated risk marker associated with subsequent indication for intervention. Median age (min–max) was 26 years (10–72). Intervention was subsequently performed in thirteen patients (14.7%). Fifty-six patients (60.2%) had simple COA and 37 (39.8%) had complex anatomy, 24 (25%) had hypertension. Poor LVA was present in 13 (14%). Diastolic tail during effort appeared in 65 cases. The mean pic isthmus gradient 50 ± 21 mmHg (min: 15; max: 124). Poor LVA was associated with more interventions (log-rank, P = 0.004) (Fig. 1). On univariate analysis presence of antihypertensive drugs (HR: 4.13, 95% CI [1.35–12.65]; P = 0.013), systolic blood pressure at rest (HR: 1.04, 95% CI [1.011–1.072]; P = 0.007); the lower exercise power (Watts) (HR: 0.98; 95% CI [0.96–0.99]; P = 0.001); poor LVA (HR: 5.95, 95% CI [1.56–22.65]; P = 0.009); peak systolic gradient at rest and on effort at isthmus (HR: 1.06, 95% CI [1.03–1.10] and HR: 1.04, 95% CI [1.02–1.06]) were significantly predictive of interventions (Table 1). ESE is a useful tool for hemodynamic evaluation of COA. More severe forms that needed intervention showed less well adaption of the LV to effort and increase in the cardiac output and afterload. [ABSTRACT FROM AUTHOR]

QoL is an important prognostic factor in Heart Failure (HF) of patients with acquired cardiac disease. The aim of this study was to determine the predictive value of Quality of Life (QoL) on outcomes in adults with congenital heart disease (ACHD) and HF. QoL of 196 ACHD patients with clinical HF (mean age: 44.3 ± 13.8 years; 51% male, 56% with complex CHD; 47% NYHA III/IV) included in the prospective multicentric registry FRESH-ACHD were assessed using SF-36 auto-questionnaire. The primary endpoint was defined by all-cause death, HF-related hospitalisation, heart transplantation or mechanical circulatory support. During a median follow-up of 12 months IQR [11.7–12], 28 (14%) patients reached the combined endpoint. Patients with low QoL experienced more frequently major adverse events (Fig. 1 [ML1], Logrank P = 0.013). On univariate analysis, lower score at physical functioning (HR = 0.98; 95% CI 0.97–0.99, P = 0.008), role limitations related to physical health (HR = 0.98; 95% CI 0.97–0.99, P = 0.008) and general health dimensions of the SF-36 (HR = 0.97 95% CI 0.95–0.99, P = 0.002) were significantly predictive of cardiovascular events (Fig. 1). Physical and general components of QoL were associated with worse outcomes in ACHD patients with HF, making QoL evaluation and rehabilitation programs essential to change this trajectory. [ABSTRACT FROM AUTHOR]

QoL is an important prognostic factor in Heart Failure (HF) of patients with acquired cardiac disease. The aim of this study was to determine the predictive value of Quality of Life (QoL) on outcomes in adults with congenital heart disease (ACHD) and HF. QoL of 196 ACHD patients with clinical HF (mean age: 44.3 ± 13.8 years; 51% male, 56% with complex CHD; 47% NYHA III/IV) included in the prospective multicentric registry FRESH-ACHD was assessed using SF-36 auto-questionnaire. The primary endpoint was defined by all-cause death, HF-related hospitalisation, heart transplantation or mechanical circulatory support. During a median follow-up of 12 months IQR [11.7–12], 28 (14%) patients reached the combined endpoint. Patients with low QoL experienced more frequently major adverse events (Fig. 1 [ML1], Logrank P = 0.013). On univariate analysis, lower score at physical functioning (HR = 0.98; 95% CI 0.97–0.99, P = 0.008), role limitations related to physical health (HR = 0.98; 95% CI 0.97–0.99, P = 0.008) and general health dimensions of the SF-36 (HR = 0.97 95% CI 0.95–0.99, P = 0.002) were significantly predictive of cardiovascular events. Physical and general components of QoL were associated with worse outcomes in ACHD patients with HF, making QoL evaluation and rehabilitation programs essential to change this trajectory. [ABSTRACT FROM AUTHOR]

The extent and significance of cardiac remodeling in Fontan patients are unclear. The aim of this study was to measure myocardial fibrosis in single ventricle (SV) and to determine its relationship with Fontan failure. A prospective cross-sectional study was performed in 25 patients (mean age 32 ± 9 years, 48% male) with SV. Echocardiography, cardiopulmonary exercise test, BNP measurement and cardiac magnetic resonance imaging (CMR) were performed within the same day. Assessment of late gadolinium enhancement in combination with T1 mapping to quantify diffuse myocardial fibrosis with assessment of myocardial extracellular volume (ECV) were performed. Associations between parameters of SV remodeling, BNP and exercise performances were evaluated. Ten patients (40%) showed clinical signs of Fontan failure. SV volumes and mass were significantly increased in these patients compared to asymptomatic patients (P < 0.01), while there was no difference in SV ejection fraction. Compared to asymptomatic Fontan patients, those with failing Fontan had significantly higher native T1 (1030 ± 29 ms vs. 982 ± 25 ms, P < 0.001) and ECV (32% (interquartile range (IQR) 30–36) vs. 27% IQR [25–30], P = 0.002). Amongst CMR parameters, only native T1 was significantly correlated with the peak VO2 [r = −0.49, P = 0.017] and BNP (r = 0.41, P = 0.046). No association was observed with echocardiographic parameters of SV systolic and diastolic function. Diffuse myocardial fibrosis is a determinant of Fontan circulation failure independently of systolic ventricular function. [ABSTRACT FROM AUTHOR]

Most of the patients who underwent arterial switch operation (ASO) for D-transposition of the great arteries (D-TGA) reach adulthood. However, they may have residual lesions necessitating lifelong surveillance. We aimed to evaluate the long-term outcomes of a large number of contemporary ASO patients. We examined late major adverse cardiovascular events (MACE) in adult TGA patients (> 16 years) who underwent an ASO between 1980 and 2002 and continued their follow-up in 2 major tertiary ACHD centers. MACE were defined as death, re-intervention, myocardial ischemia, arrhythmia, stroke/transient ischemic attack, infective endocarditis and heart failure. Overall, 306 patients (67% male, mean age 25 ± 5years) were followed in adult life for a median of 8 years [IQR 6–13]. Seventy-three (23.8%) patients experience MACE, including 40 medical events and 60 reinterventions. MACE -free survival at 2, 5, and 10 years of follow-up in adulthood was 93.0%, 85.1%, 70.7%, respectively. Atrial arrhythmia was the most frequent cardiac event with an incidence of 3.8‰ patient-years, whereas the incidence of life-threatening ventricular tachyarrhythmia was 1.7‰. Coronary artery disease was diagnosed in 11 (3.5%) patients. The most frequent indication for cardiac intervention was right ventricular outflow tract obstruction (n = 40/60, 66.7%) followed by coronary revascularisation procedure (n = 11/60, 18.3%), Fig. 1. On multivariate analysis, history of cardiac complications during infancy (HR 2.7, 95%CI:1.6–4.5, P < 0.01) and uncommon coronary patterns (HR for type B/C/D/E versus type A 1.7, 95%CI:1.0–2.9, P = 0.03) were independent predictors of MACE in adulthood. MACE are common in adult patients with ASO for TGA, particularly those with a history of cardiovascular complications during childhood and uncommon coronary pattern. Consequently, all patients with an anatomic repair for TGA merit life-long tertiary care. [ABSTRACT FROM AUTHOR]

Objetivo. Detectar anomalías cromosómicas que afectan tanto el número de cromosomas como su estructura para definir la etiología de la enfermedad permitiéndole al clínico establecer posteriores planes de manejo y asesoramiento genético. Materiales y métodos. Para reconocer y detectar variaciones inusuales en la morfología cromosómica, se aplican distintas técnicas de cultivo celular y bandeo cromosómico. Entre ellas el laboratorio de citogenética de la Universidad Nacional presta el servicio de: Cariotipo convencional bandeo C y G, Cariotipo de alta resolución cromosómica con bandeo Q, G y R, Cariotipo para evaluación de fragilidad cromosómica del cromosoma X, Cariotipo para evaluación de fragilidad cromosómica en presencia de mitomicina C (MMC), Cariotipo para evaluación de estados leucémicos (cromosoma Philadelphia), Cariotipo de líquido amniótico. Resultados. Entre 2005 y 2013 se han atendido aproximadamente 3000 pacientes que gracias a los diagnósticos citogenéticos realizados por medio de técnicas citogenéticas convencionales y moleculares y a la unión con estrategias de prevención primordial y primaria (asesoría preconcepcional, diagnostico y tamizaje prenatal y neonatal), secundaria (diagnóstico oportuno) y terciaria (guías de manejo anticipatorio) se ha comprobado la mejora en la mortalidad, morbilidad, discapacidad, reducción en costos de aseguramiento y promoción de una mejoría en la calidad de vida de los pacientes, sus familias y los perfiles en salud de la comunidad. Conclusiones. El acceso a los servicios de análisis citogenético ha permitido detectar anomalías y desarrollar estrategias de manejo adecuadas para los pacientes atendidos y ha servido de base para la investigación y la enseñanza en la institución.