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.

Treatment of right heart thromboemboli: the need of a randomized multicentre trial.

Currently, there are not solid evidence-based recommendations on the treatment of in-transit right heart thromboemboli. We present a case of acute pulmonary embolism with right ventricular entrapped thrombus detected by echocardiography. Surgical thrombectomy was successfully carried out. Treatment options are discussed and the need of a randomized trial is stressed.

Prognostic value of the Thrombolysis in Myocardial Infarction risk score in a unselected population with chest pain. Construction of a new predictive model.

INTRODUCTION: The Thrombolysis in Myocardial Infarction (TIMI) risk score (TRS) has proven to be a useful and simple tool for risk stratification of patients with chest pain in intermediate- and high-risk populations. There is little information on its applicability in daily clinical routine with unselected populations. AIMS: The aims of the study were to prospectively analyze the predictive value of the TRS in a heterogeneous population admitted for chest pain and to construct where possible a new modified model with a greater prognostic capacity. POPULATION AND METHODS: Seven hundred eleven consecutive patients were admitted over a 1-year period to the cardiology unit for chest pain without ST-segment elevation. Thrombolysis in Myocardial Infarction risk score variables, relevant medical history variables, in-hospital examination results, and therapy information were collected. Cardiac events at 1 and 6 months were recorded. RESULTS: Seventy-one (9.8%) patients had a compound event (myocardial infarction/revascularization/cardiac death) at 6 months. On multivariate analysis, the variables associated with cardiac events were left ventricular ejection fraction (EF) of <35% (hazard ratio [HR] = 2.9, P = .002), diabetes (HR = 1.8, P = .02), and TRS (HR = 1.3, P = .007). Events at 6 months were 2.3% for a TRS of 0/1, 4.2% for 2, 10.2% for 3, 11.0% for 4, and 18.7% for a score of more than 5. A new modified scale was constructed to include EF and diabetes as independent variables, and this yielded an increase of 44% in the combined event at 6 months per score unit increase (HR = 1.44, P = .001). The modified scale showed a greater predictive capacity than the original model. CONCLUSIONS: The TRS is an important short- and long-term prognostic predictor when applied to an unselected population consulting for chest pain. The inclusion of diabetes and EF as variables in the model increases predictive capacity at no expense to simplicity.