Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.

BACKGROUND: Variant transthyretin amyloidosis (A-ATTRv) is an autosomal dominant disease caused by a range of TTR gene variants which entail great phenotypical heterogeneity and penetrance. In Majorca, the A-ATTRv caused by the V30M gene variant (A-ATTRV30M) is the most common. Since asymptomatic carriers are at risk of developing the disease, estimating age of onset is vital for proper management and follow-up. Thus, the aim of this study was to estimate age-related penetrance in ATTRV30M variant carriers from Majorca. METHODS: The disease risk among carriers from ATTRV30M families from Majorca was estimated by Non-parametric survival estimation. Factors potentially involved in the disease expression, namely gender and parent of origin were also analysed. RESULTS: A total of 48 heterozygous ATTRV30M families (147 affected patients and 123 were asymptomatic carriers) were included in the analysis. Penetrance progressively increased from 6% at 30 years to 75% at 90 years of age. In contrast to other European populations, we observe a similar risk for both males and females, and no difference of risk according to the parent of origin. CONCLUSIONS: In this first study assessing the age-related penetrance of ATTRV30M variant in Majorcan families, no effect of gender or parent of origin was observed. These findings will be helpful for improving management and follow-up of TTR variant carrier individuals.

Características epidemiológicas de las paradas cardiorrespiratorias extrahospitalarias registradas porel sistema de emergencias 061 (SAMU) de la Comunidad Autónoma de las Islas Baleares (2009-2012) / Epidemiological characteristics of out-of-hospital cardiorespiratory arrest recorded by the 061 emergencies system (SAMU) in the Balearic Islands (Spain), 2009-2012

OBJETIVO: Describir las características epidemiológicas de las paradas cardiorrespiratorias extra hospitalarias (PCEH) y determinar los factores asociados a la recuperación de la circulación espontánea (RCE). Diseño: Estudio observacional de cohorte de PCEH registradas de forma continua en la base de datos del SAMU 061 (2009-2012). Ámbito: Islas de Mallorca, Ibiza, Menorca y Formentera. PACIENTES: PCEH ≥ de 18 años. Variables principales de interés: sexo, edad, sospecha etiológica, lugar, testigo, si fue presenciada, soporte vital básico (SVB), ritmo desfibrilable, intervalos de tiempos, desfibrilador semiautomático (DEA), duración de parada cardiaca (PC) y RCE. Las variables independientes fueron definidas según el estilo Utstein y la variable dependiente fue la RCE. RESULTADOS: Se atendió a 1.170 PC (28/100.000 habitantes/año). Se incluyeron 1.130 casos. La edad media fue de 61,4 años. El 72,3% fueron de etiología cardiaca y el 84,7% fueron presenciadas. En 840 (74,3%) se practicó SVB y en 400 (47,6%) se realizó previamente a la llegada del SAMU (45 por familiares). En 330 paradas (29,2%) se utilizó el DEA (96 indicó desfibrilación). Los intervalos alerta-SVB y alerta-SVA fueron de 8,4 y 15,8 min respectivamente. Se monitorizó ritmo desfibrilable en 257 PC (22,7%). La RCE se consiguió en 261 casos (23,1%). Los factores asociados a RCE fueron la edad, el ritmo desfibrilable, SVB previo a la llegada del SAMU y duración de PC ≤ 30 min. CONCLUSIONES: La incidencia de PCEH es baja. El SVB realizado por la familia fue poco frecuente. La edad, ritmo desfibrilable y SVB previo al SAMU se asocian a RCE

OBJECTIVE: To describe the epidemiology of out-of-hospital cardiorespiratory arrest (OHCA) and identify factors associated with recovery of spontaneous circulation (ROSC). Observational study of OHCA registered on a continuous basis in the Emergency Medical Services (EMS) database during 2009-2012. SETTING: The islands of Mallorca, Ibiza, Menorca and Formentera (Balearic Islands, Spain). PATIENTS: OHCA in patients ≥ 18 years of age. The main variables were: Patient sex, age, probable cause, place of arrest, bystander, witnessed, basic life support (BLS), shockable rhythm, intervention time, semi-automatic defibrillator (AED), duration of cardiopulmonary arrest (CA), and ROSC. Independent variables were defined according to the Utstein protocol, and the dependent variable was defined as ROSC. RESULTS: The EMS treated 1170 OHCAs (28/100,000 persons-year). We included 1130 CA. The mean age was 61.4 years (73.4% males). Most CA (72.3%) were of cardiac etiology, and 84.7% were witnessed. A total of 840 (74.3%) received BLS and 400 (47.6%) did so before arrival of the EMS (45 by bystander relatives). AED was available in 330 cases CA (29.2%) (96 with shockable rhythm). The interval between emergency call and BLS and between emergency call and advanced life support was 8.4 and 15.8min, respectively. Shockable rhythm was monitored in 257 CAs (22.7%). ROSC occurred in 261 (23.1%). Factors associated with ROSC were age, shockable rhythm, BLS before EMS arrival, and CA duration less than 30min.ConclusionThe incidence rate of the OHCA is low. The proportion of patients receiving BLS from relatives was low. Age, shockable rhythm and BSL before EMS arrival were associated with ROSC

[Epidemiological characteristics of out-of-hospital cardiorespiratory arrest recorded by the 061 emergencies system (SAMU) in the Balearic Islands (Spain), 2009-2012]. / Características epidemiológicas de las paradas cardiorrespiratorias extrahospitalarias registradas por el sistema de emergencias 061 (SAMU) de la Comunidad Autónoma de las Islas Baleares (2009-2012).

OBJECTIVE: To describe the epidemiology of out-of-hospital cardiorespiratory arrest (OHCA) and identify factors associated with recovery of spontaneous circulation (ROSC). DESIGN: Observational study of OHCA registered on a continuous basis in the Emergency Medical Services (EMS) database during 2009-2012. SETTING: The islands of Mallorca, Ibiza, Menorca and Formentera (Balearic Islands, Spain). PATIENTS: OHCA in patients ≥ 18 years of age. The main variables were: Patient sex, age, probable cause, place of arrest, bystander, witnessed, basic life support (BLS), shockable rhythm, intervention time, semi-automatic defibrillator (AED), duration of cardiopulmonary arrest (CA), and ROSC. Independent variables were defined according to the Utstein protocol, and the dependent variable was defined as ROSC. RESULTS: The EMS treated 1170 OHCAs (28/100,000 persons-year). We included 1130 CA. The mean age was 61.4 years (73.4% males). Most CA (72.3%) were of cardiac etiology, and 84.7% were witnessed. A total of 840 (74.3%) received BLS and 400 (47.6%) did so before arrival of the EMS (45 by bystander relatives). AED was available in 330 cases CA (29.2%) (96 with shockable rhythm). The interval between emergency call and BLS and between emergency call and advanced life support was 8.4 and 15.8min, respectively. Shockable rhythm was monitored in 257 CAs (22.7%). ROSC occurred in 261 (23.1%). Factors associated with ROSC were age, shockable rhythm, BLS before EMS arrival, and CA duration less than 30min. CONCLUSION: The incidence rate of the OHCA is low. The proportion of patients receiving BLS from relatives was low. Age, shockable rhythm and BSL before EMS arrival were associated with ROSC.

Prospective registry of symptomatic severe aortic stenosis in octogenarians: a need for intervention.

OBJECTIVE: To study the factors associated with choice of therapy and prognosis in octogenarians with severe symptomatic aortic stenosis (AS). STUDY DESIGN: Prospective, observational, multicenter registry. Centralized follow-up included survival status and, if possible, mode of death and Katz index. SETTING: Transnational registry in Spain. SUBJECTS: We included 928 patients aged ≥80 years with severe symptomatic AS. INTERVENTIONS: Aortic-valve replacement (AVR), transcatheter aortic-valve implantation (TAVI) or conservative therapy. MAIN OUTCOME MEASURES: All-cause death. RESULTS: Mean age was 84.2 ± 3.5 years, and only 49.0% were independent (Katz index A). The most frequent planned management was conservative therapy in 423 (46%) patients, followed by TAVI in 261 (28%) and AVR in 244 (26%). The main reason against recommending AVR in 684 patients was high surgical risk [322 (47.1%)], other medical motives [193 (28.2%)], patient refusal [134 (19.6%)] and family refusal in the case of incompetent patients [35 (5.1%)]. The mean time from treatment decision to AVR was 4.8 ± 4.6 months and to TAVI 2.1 ± 3.2 months, P < 0.001. During follow-up (11.2-38.9 months), 357 patients (38.5%) died. Survival rates at 6, 12, 18 and 24 months were 81.8%, 72.6%, 64.1% and 57.3%, respectively. Planned intervention, adjusted for multiple propensity score, was associated with lower mortality when compared with planned conservative treatment: TAVI Hazard ratio (HR) 0.68 (95% confidence interval [CI] 0.49-0.93; P = 0.016) and AVR HR 0.56 (95% CI 0.39-0.8; P = 0.002). CONCLUSION: Octogenarians with symptomatic severe AS are frequently managed conservatively. Planned conservative management is associated with a poor prognosis.

[Spontaneous rupture of the papillary muscle with angiographically normal coronary vessels]. / Rotura espontánea de músculo papilar con coronarias angiográficamente normales.

Papillary muscle rupture is an unusual pathology, commonly being a mechanical complication of an acute myocardial infarction or a blunt chest trauma. In this case report we describe a patient with a spontaneous complete posteromedial papillary muscle rupture, secondary to an isolated papillary muscle infarction, in the absence of coronary artery disease, resulting in severe mitral regurgitation, cardiogenic shock and uneventful urgent mitral valve replacement. The clinical and histopathologic literature, and mechanisms to explain this kind of rupture, are reviewed.