Congenital musculoskeletal abnormalities associated with aortic, pulmonary and iliac aneurysms

We present the case of a young patient with severe congenital musculoskeletal abnormalities. associated with different pathologies, with involvement of the arterial tree on both the systemic and pulmonary circulation, and involvement of the lungs due to thoracic hypoplasia. The presence of such extensive pathology raises the question of the suitability of such patients to undergo major corrective cardiac surgery procedures. (Cardiol J 2010; 17, 4: 412-414

Influence of Genetics and Gender in Takotsubo Syndrome: Unexplored Areas of an Incompletely Understood Disease

Stress cardiomyopathy, also known as "Takotsubo syndrome" (TS), is a complex disease that typically affects postmenopausal women. The pathophysiology is still largely unknown, but evidence of a frequent association between TS and stressful events has evoked the hypothesis of a pathophysiologic role of sympathetic overdrive in the myocardial dysfunction. However, despite several studies, the role gender plays in TS onset remains unclear because stress cardiomyopathy also has been described in young women and in men. Moreover, although several cases of a familial cluster of TS have been reported, no responsible gene mutations or polymorphisms have been clearly identified so far, and neither the modality of transmission or the true impact of genetic background. In this review, we discuss the role of gender in the onset, course, and outcomes of TS and we report the available data about polymorphisms and gene mutations so far investigated, trying to critically analyze the evidence reported in the literature

From left atrial pressures to left atrial strain: The importance of diastolic dysfunction in patients with atrial fibrillation.

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Role of Echocardiography in the Intensive Care Unit: Overview of the Most Common Clinical Scenarios

The intensive care unit (ICU) is among the more important settings in which echocardiography plays a pivotal role. The ease of use, speed of execution, and completeness of information on heart anatomy and function that echocardiography is able to provide makes this tool the perfect diagnostic technique in patients for whom exhaustive information must be quickly obtained by physicians who sometimes lack specific skills in cardiovascular imaging. However, the clinical entities encountered by ICU clinicians are often difficult to distinguish and patient symptoms may not be obvious. This brief review describes three common clinical scenarios that benefit from echocardiography in the ICU, based on symptoms frequently claimed by patients admitted to the ICU. For each symptom we describe the most likely clinical possibilities, underlining the fundamental role that echocardiography plays in the differential diagnosis, and the echocardiographic elements most relevant to obtain the correct diagnosis and to guide treatment

The non-invasive assessment of myocardial work by pressure-strain analysis: clinical applications

Pressure-volume (PV) analysis is the most comprehensive way to describe cardiac function, giving insights into cardiac mechanics and energetics. However, PV analysis still remains a highly invasive and time-consuming method, preventing it from integration into clinical practice. Most of the echocardiographic parameters currently used in the clinical routine to characterize left ventricular (LV) systolic function, such as LV ejection fraction and LV global longitudinal strain, do not take the pressure developed within the LV into account and therefore fall too short in describing LV function as a hydraulic pump. Recently, LV pressure-strain analysis has been introduced as a new technique to assess myocardial work in a non-invasive fashion. This new method showed new insights in comparison to invasive measurements and was validated in different cardiac pathologies, e.g., for the detection of coronary artery disease, cardiac resynchronization therapy (CRT)-response prediction, and different forms of heart failure. Non-invasively assessed myocardial work may play a major role in guiding therapies and estimating prognosis. However, its incremental prognostic validity in comparison to common echocardiographic parameters remains unclear. This review aims to provide an overview of pressure-strain analysis, including its current application in the clinical arena, as well as potential fields of exploitation

Quantitative comparison between amyloid deposition detected by (99m)Tc-Diphosphonate imaging and myocardial deformation evaluated by strain echocardiography in transthyretin-related cardiac amyloidosis.

Methods and results 28 patients with transthyretin mutation and a group of 14 controls underwent echocardiography to quantify left ventricular (LV) dimensions and function, and global (G) longitudinal (L), radial (R) and circumferential (C) strain (S). 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic-acid-scintigraphy (99mTc-DPD) was used to quantify cardiac amyloidosis (CA). 99mTc-DPD revealed accumulation in 14 of 28 patients (CA-group) and no accumulation (no CA-group) in 14 patients. Cardiac accumulation was mild-moderate in 5 (Mild-Moderate CA-group) and severe in 9 patients (Severe CA-group). Severe CA-group showed higher values of LV septal thickness (LVST), posterior wall thickness and E/E' ratio than the no CA-group and the control group (adj. p<0.05). Ejection fraction was similar among groups (p=0.65). GLS was lower (p=<0.001) in severe CA-group (-12.2 ± 4.5) respect to no CA-group (-19.3 ± 3.0) and to the control group (-20.9 ± 2.5). On the contrary, GCS and GRS were lower (p=<0.05) in mild-moderate CA-group (-10.8 ± 4.1 and 9.5 ± 5.7, respectively) respect to the severe CA-group (-18.9 ± 5.1 and 23.9 ± 6.3 respectively), no CA-group (-19.2 ± 4.1 and 28.4 ± 10.2 respectively) and the control group (-23.9 ± 4.4 and 29.9 ± 8.7 respectively). A correlation was found between the scintigraphic heart retention (HR) index and LVST (r=0.72; p<0.001) and E/E' (r=0.46; p=0.03). An inverse tendency was observed between HR and GLS (r=−0.40; p=0.06)

Effect of uric acid serum levels on carotid arterial stiffness and intima-media thickness: A high resolution Echo-Tracking Study

Serum uric acid (UA) has been shown to be a predictor of cardiovascular (CV) morbidity and mortality, and it may play a role in the pathogenesis of CV disease affecting vascular structure and function. However, there is limited evidence of its specific association with carotid artery stiffness and structure. The aim of our study was to evaluate whether UA is associated with early signs of atherosclerosis, namely local carotid arterial stiffness and intima-media thickening. We evaluated 698 consecutive asymptomatic patients, referred to the Cardiovascular Department for risk factors evaluation and treatment. All patients underwent carotid artery ultrasonography with measurement of common carotid intima-media thickness (IMT) and echo-tracking carotid artery stiffness index Beta. Patients with hyperuricemia (defined as serum uric acid ≥7 mg/dL in men and ≥6 mg/dL in women) had higher IMT (0.97±0.22 vs 0.91±0.18, p<0.001) and stiffness index Beta (8.3±3.2 vs 7.5±2.7, p=0.005). UA levels correlated with both IMT (r=0.225; p<0.001) and stiffness index Beta (r=0.154; p<0.001); the correlations were statistically significant in males and females. In a multivariate model which included age, arterial pressure, serum glucose and LDL-cholesterol, serum UA emerged as an independent explanatory variable of IMT and stiffness index Beta. Carotid IMT and local arterial stiffness are related to UA independently of established CV risk factors; UA may play a role in the early development of atherosclerosis