State of the Art: No-Reflow Phenomenon.

Primary percutaneous coronary intervention is the preferred reperfusion strategy for the management of acute ST-segment elevation myocardial infarction. No reflow is characterized by the inadequate myocardial perfusion of a given segment without angiographic evidence of persistent mechanical obstruction of epicardial vessels. Both pharmacologic and device-based strategies have been tested to resolve coronary no reflow. This article provides an updated overview of the no-reflow phenomenon, discussing clinical evidence and ongoing investigations of existing and novel therapeutic strategies to counteract it.

Three dimensional transesophageal echocardiography: a missing link in infective endocarditis imaging?

The role of two dimensional (2D) echocardiography (ECHO) for the diagnosis and clinical decision making in infective endocarditis (IE) has been extensively studied and described in the medical literature. Some reports have demonstrated the incremental value of three dimensional (3D) transesophageal (TE) ECHO in the setting of IE. However, a systematic review focusing on the role of 3D imaging is lacking. In this manuscript, we examine the role of 3D TE ECHO in the diagnosis of IE. IE is a challenging disease in which 2D transthoracic (TT) and TE ECHO have complementary roles and are unequivocally the mainstay of diagnostic imaging. Still, 2D imaging has important limitations. Technological advances in 3D imaging allow for the reconstruction of real-time anatomical images of cardiac structure and function. 3D imaging has emerged as a diagnostic technique that overcame some of the limitations of 2D ECHO. Currently, both transthoracic and transesophageal echocardiography transducers are able to generate 3D images. However, 3D TE ECHO provides images of a higher quality in comparison to 3D TT ECHO, and is the best echocardiographic modality able to allow for a detailed anatomical imaging. 3D TE ECHO may represent the key adjunctive echocardiographic technique being able to positively impact on IE-related surgical planning and intervention and to facilitate the interaction between the surgeon and the imaging specialist. Importantly, 3D TE ECHO is not the recommended initial modality of choice for the diagnosis of IE; however, in highly specialized centers, it has become an important complementary technique when advanced surgical planning is required. Furthermore, anatomical imaging has become the link between the different techniques that play a role in IE imaging. In fact, both computed tomography and magnetic resonance allow three dimensional reconstruction. An important future goal should allow for the fusion among various imaging modalities. Our review highlights the role of 3D TE ECHO in IE imaging and emphasize where it offers incremental value.

Three-dimensional Transesophageal Echocardiographic Diagnosis of Catheter Endocarditis Hidden in Intracaval Stent.

In recent years, with an increasing number of central venous access procedures and cardiac implantable electronic device implantation, the incidence of infective endocarditis (IE) has become more prevalent. Two-dimensional transthoracic echocardiography (2D-TTE) and transesophageal echocardiography (TEE) are a key part of the evaluation of IE, but advances in three-dimensional echocardiography have enabled a better spatial resolution and visualization of cardiac structures, allowing the identification of any valvular vegetations, abscesses, or nodules. Herein, we report the usefulness of 3D-TEE in a difficult diagnosis of hemodialysis catheter endocarditis hidden in intracaval stent.

Multifactorial Genesis of a Seeming Case of Pulmonary Hypertension.

Herein, we report the case of a 44-year-old female with end-stage renal disease on hemodialysis. She was admitted to our hospital to evaluate if she was eligible for a kidney transplant. Transthoracic echocardiography showed a markedly dilated coronary sinus and an unexpected finding of increased right ventriculoatrial gradient. A saline contrast echocardiography to confirm the presence of persistent left superior vena cava (PLSVC) was not performed because of arteriovenous fistula (FAV) for hemodialysis on the left forearm. Therefore, computed tomography angiography was performed, and it showed the PLSVC. We also proceeded with a transesophageal echocardiography which showed an atrial septal defect (ASD) of the sinus venous type hemodynamically significant. In this case, we identified a rare association of PLSVC with a ASD; therefore, there is a right ventricular volume overload because of the ASD hemodynamically significant and high flow FAV leading to a condition of a seeming pulmonary hypertension.

Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC), with higher morbidity and mortality. These diseases are genetically diverse and associated with rare mutations in a large number of genes, many of which overlap among the phenotypes. To better investigate the genetic overlap between these three phenotypes and to identify new genotype-phenotype correlations, we designed a custom gene panel consisting of 115 genes known to be associated with cardiomyopathic phenotypes and channelopathies. A cohort of 38 unrelated patients, 16 affected by DCM, 14 by HCM and 8 by ARVC, was recruited for the study on the basis of more severe phenotypes and family history of cardiomyopathy and/or sudden death. We detected a total of 142 rare variants in 40 genes, and all patients were found to be carriers of at least one rare variant. Twenty-eight of the 142 rare variants were also predicted as potentially pathogenic variants and found in 26 patients. In 23 out of 38 patients, we found at least one novel potential gene-phenotype association. In particular, we detected three variants in OBSCN gene in ARVC patients, four variants in ANK2 gene and two variants in DLG1, TRPM4, and AKAP9 genes in DCM patients, two variants in PSEN2 gene and four variants in AKAP9 gene in HCM patients. Overall, our results confirmed that cardiomyopathic patients could carry multiple rare gene variants; in addition, our investigation of the genetic overlap among cardiomyopathies revealed new gene-phenotype associations. Furthermore, as our study confirms, data obtained using targeted next-generation sequencing could provide a remarkable contribution to the molecular diagnosis of cardiomyopathies, early identification of patients at risk for arrhythmia development, and better clinical management of cardiomyopathic patients.