Hereditary Transthyretin Amyloidosis: How to Differentiate Carriers and Patients Using Speckle-Tracking Echocardiography

Background: Hereditary transthyretin amyloidosis is a rare disease caused by transthyretin (TTR) gene mutations. The aim of our study was to identify early signs of cardiac involvement in patients with a TTR gene mutation in order to differentiate carriers from patients with neurological or cardiac disease. Methods: A case-control study was carried out on 31 subjects with the TTR mutation. Patients were divided into three groups: 23% with cardiac amyloidosis and polyneuropathy (group A), 42% with only polyneuropathy (group B) and 35% carriers (group C). Speckle-tracking echocardiography (left-ventricular global longitudinal strain-GLS, atrial stiffness) was performed in all patients. The apical/basal longitudinal strain ratio (SAB) and relative apical sparing (RAS) were assessed in all subjects. Results: Analyzing groups C and B, we only found a significant difference in the SAB (p-value 0.001) and RAS (p-value 0.039). These parameters were significantly more impaired in group A compared to group B (SAB p-value 0.008; RAS p-value 0.002). Also, atrial stiffness was significantly impaired in groups A and B compared to group C. Conclusions: Our study suggests the diagnostic role of the SAB and RAS in cardiac amyloidosis. The SAB and RAS showed a gradual increase from carriers to patients with neurological and cardiac diseases. Thus, these parameters, in addition to atrial stiffness, could be used to monitor carriers. More extensive data are needed

BIOMARKERS OF CORONARY MICROVASCULAR DYSFUNCTION IN PATIENTS WITH MICROVASCULAR ANGINA: A NARRATIVE REVIEW

The current gold standard for diagnosis of coronary microvascular dysfunction (CMD) in the absence of myocardial diseases, whose clinical manifestation is microvascular angina (MVA), is reactivity testing using adenosine or acetylcholine during coronary angiography. This invasive test can be difficult to perform, expensive and harmful. The identification of easily obtainable blood biomarkers which reflect the pathophysiology of CMD, characterized by high reliability, precision, accuracy and accessibility may reduce risks and costs related to invasive procedures and even facilitate the screening and diagnosis of CMD. In this review we summarized the results of several studies that have investigated the possible relationships between blood biomarkers involved with CMD and MVA. More specifically, we have divided the analyzed biomarkers into 3 different groups, according to the main mechanisms underlying CMD: biomarkers of “endothelial dysfunction”, “vascular inflammation” and “oxidative stress”. Finally, in the last section of the review, we consider mixed mechanisms and biomarkers which are not included in the 3 major categories mentioned above, but could be involved in the pathogenesis of CMD

Contractile Reserve in Heart Failure with Preserved Ejection Fraction

Background: Diastolic stress echocardiography (SE) is useful for confirming the diagnosis of heart failure with preserved left ventricular ejection fraction (HFpEF) when it is uncertain. The aim of this study was to assess the value of new echocardiographic parameters during diastolic SE in patients with dyspnea and suspected HFpEF. Methods: Sixty-two patients with exertional dyspnea and inconclusive rest echocardiography for a diagnosis of HFpEF were enrolled. Exercise SE was performed in all patients. Contractile reserve (LVCR) was assessed by measuring: 1. changes in the left ventricular ejection fraction (LVEF) between rest and peak stress; 2. stress-to-rest ratio of force (force was defined as the ratio between systolic arterial pressure and left ventricular end-systolic volume); and 3. mechanical reserve, defined as the change in systolic strain (GLS) between rest and peak stress. Results: Diagnosis of HFpEF was performed by SE in 26 patients. Comparing patients with a diagnosis of HFpEF (group A) to patients with other causes of dyspnea (group B), we found a significant increase in the E/e' ratio in group A at peak stress. LV GLS was significantly reduced in group A compared to group B at rest and stress (p value 0.01 at rest; p value 0.04 at stress). At peak stress, GLS did not significantly increase in group A, while it increased in group B (p value 0.04). LVEF increased significantly in both groups. Conclusion: Patients with HFpEF have impaired LVCR when assessed using GLS. Thus, the assessment of mechanical reserve could give additional diagnostic information during stress tests in patients with HFpEF

Cardiovascular health in Asian immigrants to Italy: risk factors, pathogenesis and pharmacological treatment

In the last decades a significant increase of the migratory phenomenon from South Asian countries to the western world has occurred due to several factors, such as economic crisis, political instabilities, persecutions and wars. It is well established that South Asians (SA) have a higher prevalence of coronary artery disease (CAD) and premature onset of myocardial infarction episodes than other populations. This higher predisposition might be caused by genetic factors, common in both SA residing in their birth country and in those residing abroad, but it may also be due to the new spatial environment in which they live. We have found a higher prevalence of traditional cardiovascular risk factors in SA compared with other populations; in particular abdominal obesity, caused by an unhealthy diet rich in refined carbohydrates and saturated fats, plays a key role in the development of insulin-resistance, diabetes, dyslipidemia and hypertension, leading to the increase risk of CAD in SA. Even emerging risk factors were found to be higher in this ethnic group; indeed, the evidence of higher levels of pro-thrombotic and pro-inflammatory factors, such as lipoprotein(a) and pro-inflammatory adipokines, as well as the influence of air pollution and psychosocial stress, may have consequences on the risk, treatment and outcomes of CAD in this population

Impact of insulin resistance on cardiac and vascular function

Background Insulin resistance (IR), constitutes an important cardiovascular risk factor and can cause ischemic heart disease. It can lead to left ventricular dysfunction with a mechanism independent of ischemic heart disease and it is closely associated with impaired vascular function. The aim of our study was to explore the impact of IR on cardiac and vascular function, in patients with cardiovascular risk factors but angiographically undamaged coronary arteries. Methods We studied 32 patients (62.06 ± 11.19 years) with cardiovascular risk factors. All patients underwent coronary angiography, echocardiography, Doppler ultrasound of carotid arteries and laboratory tests. Exclusion criteria were coronary artery disease detected by coronary angiography, diabetes mellitus, creatinine above 1.5 mg/dl, atrial fibrillation or malignant arrhythmias, left-ventricular hypertrophy, valvular heart disease, ejection fraction below 50%. The presence of insulin resistance was assessed using the Homeostasis Model Assessment of Insulin Resistance (HOMA-IR). Each patient underwent a complete echocardiographic examination including Global Longitudinal Strain assessment and carotid artery ultrasound scan including measurement of arterial stiffness. Results The patients were divided into two groups based on the median value of HOMA-IR, the first group for values < 4.14 and, the second, for values ≥ 4.14. Ejection fraction and diastolic function did not significantly differ between the two groups, whether in patients with higher levels of HOMA-IR (≥ 4.14) we observed a Global Longitudinal Strain (GLS) that was significantly reduced (− 16.50 ± 1.37% vs. − 20.73 ± 1.84%, p = 0.0015) vascular stiffness, measured in the carotid arteries as pulse wave velocity (PWV) (9.70 ± 1.75 m/s vs. 7.40 ± 1.89 m/s, p = 0.00148) that was increased. At multivariate analysis HOMA-IR was an independent predictor of myocardial dysfunction (GLS: coefficient 0.1156, p < 0.0001). Conclusion Insulin resistance is associated with subclinical myocardial and vascular alterations in patients without significant coronary artery disease, measured as a reduction of Global Longitudinal Strain, and increased arterial stiffness. Our results underscore the importance of studying the interaction between ventricular function and vessels, in the perspective of more effective preventive and therapeutic interventions

Long-term parameters of heart rate variability in patients with insulin-resistance

Heart rate variability (HRV) is defined as the oscillation in both the interval between consecutive heartbeats (considered RR intervals) and consecutives measures of instantaneous heart rates.1 HRV measures the cardiac autonomic function noninvasively1,2 and its reduction is an independent risk factor for cardiovascular events.3 Insulin-resistance is a pathological condition, in which the body’s cells become resistant to insulin effects.4 The aim of our study was to evaluate the relationship between insulin-resistance and the reduction of HRV parameters

Multimodality imaging approach to paradoxical embolism: a cauliflower mass on the Eustachian valve

The Eustachian valve was first described by Bartolomeo Eustachio (Italian anatomist) at 1552. It is an embryological remnant of the inferior vena cava valve that prenatally directs the oxygenated blood from inferior vena cava across the patent foramen ovale (PFO) into systemic circulation. Generally, following birth, after the closure of the foramen ovale it gradually regresses and not have a specific function, but it may persist in some patients as a floating membrane in the right atrium (RA), a nonpathological functionless structure.1 The prevalence of Eustachian valve in the normal population is unknown. Generally, it is an incidental finding without any significant pathophysiological consequences, but in some particular cases, unfortunately, it can become the site of thrombus formation and paradoxical embolic source.1 In our case report we describe a particular case of paradoxical systemic embolism due to a giant cauliflower thrombus on Eustachian valve, which caused ischemic stroke, pulmonary embolism and splenic infarctio