Development and Validation of a Prediction Model and Score for Transthyretin Cardiac Amyloidosis Diagnosis: T-Amylo.

BACKGROUND: Although transthyretin cardiac amyloidosis (ATTR-CA) is often underdiagnosed, clinical suspicion is essential for early diagnosis. OBJECTIVES: The aim of this study was to develop and validate a feasible prediction model and score to facilitate the diagnosis of ATTR-CA. METHODS: This retrospective multicenter study enrolled consecutive patients who underwent 99mTc-DPD scintigraphy for suspected ATTR-CA. ATTR-CA was diagnosed if Grade 2 or 3 cardiac uptake was evidenced on 99mTc-DPD scintigraphy in the absence of a detectable monoclonal component or by demonstration of amyloid by biopsy. A prediction model for ATTR-CA diagnosis was developed in a derivation sample of 227 patients from 2 centers using multivariable logistic regression with clinical, electrocardiography, analytical, and transthoracic echocardiography variables. A simplified score was also created. Both of them were validated in an external cohort (n = 895) from 11 centers. RESULTS: The obtained prediction model combined age, gender, carpal tunnel syndrome, interventricular septum in diastole thickness, and low QRS interval voltages, with an area under the curve (AUC) of 0.92. The score had an AUC of 0.86. Both the T-Amylo prediction model and the score showed a good performance in the validation sample (ie, AUC: 0.84 and 0.82, respectively). They were tested in 3 clinical scenarios of the validation cohort: 1) hypertensive cardiomyopathy (n = 327); 2) severe aortic stenosis (n = 105); and 3) heart failure with preserved ejection fraction (n = 604), all with good diagnostic accuracy. CONCLUSIONS: The T-Amylo is a simple prediction model that improves the prediction of ATTR-CA diagnosis in patients with suspected ATTR-CA.

Natural History of MYH7-Related Dilated Cardiomyopathy.

BACKGROUND: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS: We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers. RESULTS: At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% ± 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of ≤35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare.

Diagnosis, management and mortality in acute aortic syndrome: results of the Spanish Registry of Acute Aortic Syndrome (RESA-II).

BACKGROUND: Recent advances in the diagnosis and treatment of acute aortic syndrome should improve the outcome of this disease. The Spanish Registry of Acute Aortic Syndrome aimed to assess current results in acute aortic syndrome management in a wide cohort of hospitals in the same geographical area. METHODS: From January 2012 to January 2014, 26 tertiary hospitals included 629 consecutive patients with acute aortic syndrome: 73% men, mean age 64.7±14 years (range 22-92), 443 type A (70.4%) and 186 type B (29.6%). RESULTS: Time elapsed between symptom onset and diagnosis was <12 hours in 70.7% of cases and <24 hours in 84.0% (median 5 hours; 25th-75th percentiles, 2.7-15.5 hours). Computed tomography was the first diagnostic technique in 78% of patients and transthoracic echocardiography in 15%. Surgical treatment was indicated in 78.3% of type A acute aortic syndrome. The interval between diagnosis and surgery was 4.8 hours (quartile 1-3, 2.5-11.4 hours). Among the patients with type B acute aortic syndrome, treatment was medical in 116 cases (62.4%), endovascular in 61 (32.8%) and surgical in nine (4.8%). Type A mortality during hospitalisation was 25.1% in patients treated surgically and 68% in those treated medically. Mortality in type B was 13.8% in those with medical treatment, 18.0% with endovascular therapy and 33.0% with surgical treatment. CONCLUSION: Improvements in the diagnosis and treatment of acute aortic syndrome have not resulted in a significant reduction in hospital mortality. The results of this study reflect more overall and less selected information on acute aortic syndrome management and the need for sustained advances in the therapeutic strategy of acute aortic syndrome.

Influencia del riesgo cardiovascular en la predicción y el momento de aparición de eventos cardiacos tras ecocardiograma de esfuerzo sin isquemia / Influence of cardiovascular risk in the prediction and timing of cardiac events after exercise echocardiogram testing without ischemia

Introducción y objetivos: La influencia del riesgo cardiovascular en el pronóstico de pacientes con ecocardiograma de esfuerzo (EE) sin isquemia inducible no se ha evaluado. El objetivo es determinar predictores de eventos, con especial atención al riesgo cardiovascular. Métodos: Se incluyó a 1.640 pacientes con EE sin isquemia: 1.206 sin cardiopatía isquémica (CI), cuyo riesgo de muerte cardiovascular se estimó según el SCORE (Systematic COronary Risk Evaluation) europeo, y 434 con CI. El objetivo primario fue la supervivencia libre de eventos (SLEv) (muerte cardiaca, síndrome coronario agudo no fatal y revascularización en el seguimiento). Resultados: Tras una mediana de seguimiento de 35 [23-54] meses, no hubo diferencias significativas entre la SLEv de los pacientes con SCORE ? 10 o diabetes y pacientes con CI (el 89,8 frente al 87,1%). Al año la SLEv era alta en todos los grupos (el 99,4% si SCORE < 5; el 100% si SCORE 5-9; el 98% si SCORE ? 10 o diabetes y el 97% si CI), con un descenso a los 3 años si SCORE ? 10 o diabetes (94,5%), similar al de los pacientes con CI (91,1%, diferencias no significativas). Las tasas de eventos anualizadas fueron del 2,8 y el 2,55% respectivamente, significativamente superiores a las de los grupos con SCORE < 5 (0,6%) y 5-9 (0,12%). Los eventos más frecuentes fueron el síndrome coronario agudo sin elevación del segmento ST no fatal y la revascularización. Fueron predictores de eventos cardiacos: la CI conocida, un SCORE ? 10 o diabetes, el aclaramiento de creatinina, la fracción eyección del ventrículo izquierdo y el dolor durante la EE. Conclusiones: Un EE sin isquemia implica buen pronóstico inicial, posteriormente modulado por el riesgo cardiovascular (AU)

Introduction and objectives: There have been no analyses of the influence of cardiovascular risk as a predictor of events in patients with exercise echocardiography (EE) without ischemia. Our objective was to determine the predictors of cardiac events, paying special attention to cardiovascular risk. Methods: This study included 1640 patients with EE without ischemia. Of these,there were 1206 with no previously known coronary artery disease (CAD), whose risk of a fatal cardiovascular disease event was estimated according to the European SCORE (Systematic COronary Risk Evaluation) risk assessment system, and 434 with known CAD. The primary endpoint was cardiac event-free survival (EFS) (cardiac death, nonfatal acute coronary syndrome, and coronary revascularization). Results: After a median follow-up of 35 [23-54] months, no differences were found in cardiac EFS between patients with a SCORE 10 or diabetes and patients with previous CAD (89.8% vs 87.1%). In the first year, cardiac EFS was high in all groups (99.4% if SCORE < 5; 100% if 5-9; 98% if 10 or diabetes and 97% in patients with CAD). In the third year, cardiac EFS was similar in the group with SCORE 10 or diabetes (94.5%) and patients with CAD (91.1%, P = NS). In these patients, the annualized event rate was 2.8% and 2.55%, respectively, and was significantly higher than in groups with SCORE < 5 (0.6%) and SCORE 5-9 (0.12%). The most frequent events were non—ST-segment elevation acute coronary syndrome and late revascularization. Predictors of cardiac events were previous CAD, SCORE 10 or diabetes mellitus, creatinine clearance, left ventricular ejection fraction, and chest pain during EE. Conclusions: Initial outcome after an EE without ischemia is favorable but is subsequently modulated by cardiovascular risk (AU)

Influence of Cardiovascular Risk in the Prediction and Timing of Cardiac Events After Exercise Echocardiogram Testing Without Ischemia.

INTRODUCTION AND OBJECTIVES: There have been no analyses of the influence of cardiovascular risk as a predictor of events in patients with exercise echocardiography (EE) without ischemia. Our objective was to determine the predictors of cardiac events, paying special attention to cardiovascular risk. METHODS: This study included 1640 patients with EE without ischemia. Of these, there were 1206 with no previously known coronary artery disease (CAD), whose risk of a fatal cardiovascular disease event was estimated according to the European SCORE (Systematic COronary Risk Evaluation) risk assessment system, and 434 with known CAD. The primary endpoint was cardiac event-free survival (EFS) (cardiac death, nonfatal acute coronary syndrome, and coronary revascularization). RESULTS: After a median follow-up of 35 [23-54] months, no differences were found in cardiac EFS between patients with a SCORE ≥ 10 or diabetes and patients with previous CAD (89.8% vs 87.1%). In the first year, cardiac EFS was high in all groups (99.4% if SCORE < 5; 100% if 5-9; 98% if ≥ 10 or diabetes and 97% in patients with CAD). In the third year, cardiac EFS was similar in the group with SCORE ≥ 10 or diabetes (94.5%) and patients with CAD (91.1%, P = NS). In these patients, the annualized event rate was 2.8% and 2.55%, respectively, and was significantly higher than in groups with SCORE < 5 (0.6%) and SCORE 5-9 (0.12%). The most frequent events were non-ST-segment elevation acute coronary syndrome and late revascularization. Predictors of cardiac events were previous CAD, SCORE ≥ 10 or diabetes mellitus, creatinine clearance, left ventricular ejection fraction, and chest pain during EE. CONCLUSIONS: Initial outcome after an EE without ischemia is favorable but is subsequently modulated by cardiovascular risk.