Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: an echocardiographic study

Mucopolysaccharidoses, a rare inherited disorder of lysosomal storage, account for less than 0.1% of all genetic diseases.  The penetrance is highly variable and clinically it varies from severe fetal-neonatal forms to attenuated diseases diagnosed in adult individuals. The majority of the patients have been reported to show cardiac abnormalities since pediatric age, however, there is a minority of patients with attenuated disease diagnosed in the adolescent and adult age. The haematopoietic stem cell transplantation and enzyme replacement therapy are the current therapies for these disorders. Thanks to these treatments, Mucopolysaccharidoses patients live longer than in the past. Even though enzyme replacement therapy has been demonstrated to reduce left ventricular mass in patients with cardiomyopathy, the efficacy on valve abnormalities has not been clearly demonstrate yet. Furthermore, thanks to the current therapy, to better understanding and to the advent on new technologies, an increasing number of adolescent and adult patients diagnosed with MPS are followed up in the adult echocardiographic laboratory. Indeed, a systematic descriptive study describing the echocardiographic features of valvular involvement and their evolution in adolescent and adult patients lacks of medical literature and this was the aim of our investigation. Our results showed that all the valves are affected, mainly the mitral valve with a higher prevalence compared to the pediatric age.  The echocardiographic features of MPS differs from other valvular disease of adolescent and adult age, and knowing them can avoid misdiagnosis. Our observations also suggest that the progression of cardiac involvement slows after the initiation of the therapy in our group of age. Further studies on larger population are required to confirm our results

Contrast transesophageal three-dimensional echocardiographic imaging for patent foramen ovale: A needful role?

The management of patent foramen ovale (PFO) still remains controversial. According to the newest scientific evidences, the assessment of the PFO size and the shunt has paramount importance for further management [1]. Although two-dimensional (2D) transesophageal (TE) echocardiography (E) contrast study has been considered to be the gold standard imaging modality for diagnosing PFO for a long time, new evidences underscore that its accuracy may have been over-valued [1,2]. Three-dimensional (3D) TEE imaging has emerged as a diagnostic technique that overcome some of the limitations of 2DE. 3D TEE allows an anatomical imaging for a comprehensive echocardiographic assessment of the left atrium, atrial septum and of PFO morphology [3,4]. However, it has never been reported about its diagnostic usefulness in detecting the bubbles passage during contrast study. We report a case where it has been possible to detect the passage of bubbles across the PFO thanks to 3D TEE

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