Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes.

Dilated cardiomyopathy (DCM) is defined as left ventricular enlargement accompanied by systolic dysfunction not explained by abnormal loading conditions or coronary heart disease. The DCM clinical spectrum is broad, ranging from subclinical to severe presentation with progression to end stage heart failure. To date, different genetic loci have been found to have moderate/definitive evidence for causality in DCM and pathogenic variants in the TTN gene represent the main genetic determinant. Here, we describe a family in which the co-occurrence of two genetic hits, one in the TTN and one in the BAG3 gene, was associated with heterogeneous clinical presentation ranging from subclinical phenotypes to acute cardiogenic shock mimicking fulminant myocarditis. We hypothesize that at least some specific BAG3 genotypes could be related to DCM presenting with acute heart failure and suggest that patients and relatives carrying BAG3 pathogenic variants should be addressed to a tertiary-level heart care center.

[First-aid treatment for acute myocardial infarction. Experience at the San Camillo Hospital of Rome]. / Trattamento in pronto soccorso dell'infarto acuto del miocardio. L'esperienza dell'Ospedale San Camillo di Roma.

STUDY OBJECTIVE: The aim of the study is to verify: 1) the trustworthiness level of the diagnosis of AMI defined in Emergency Department (ER); 2) the frequency and the effectiveness (length of staying in hospital, mortality rate) of the invasive or not invasive treatment which are implemented in the ER area. METHODS: We have studied the crowding of the patients suffering from chest pain (CP) who asked the ER for assistance during the year 2000 and that of the patients with AMI diagnosed in ER (diagnosis at the admittance and at the discharge from the hospital, therapeutic procedures, staying in hospital, mortality rate). RESULTS: The patients suffering from CP have been the 5.4% of all the patients who reached the ER and were admitted to the hospital more than the patients who reached the ER for all the other causes (41.5% versus 22.1%). In 61.7% of the patients affected by AMI the disease was identified by the physicians of the ER; the invasive treatment has been developed in 67.7% of those patients and the not invasive in 32.3% of the same patients. The mean length of the staying in hospital for the patients who have been treated with PTCA was 10.3 days; on the contrary, the same value for the patients treated with thrombolysis was 13.8 days and the difference was significant at the 0.001 level. The mortality rate during the staying in Hospital was 5.9% in the patients treated with PTCA and 13% in the patients treated with thrombolysis but the difference was not significant because of the little number of the dead patients. CONCLUSION: The sensitivity (62%) and the specificity (100%) of the diagnosis of AMI defined in the ER demonstrate the utility of a Cardiologic Service in ER.