Effect of b-thalassemia minor on the arterial function

Introduction: Heterozygous β-thalassemia is observed in 1.5% of the population worldwide and mainly prevalent in the Mediterranean countries, as well as in 6.3% of the population in Greece, and is associated with a variety of rheological and biochemical alterations that can affect the cardiovascular function. It has been reported that heterozygous β-thalassemia subjects have a prothatherogenic biochemical phenotype, mainly characterized by a reduction in high density lipoprotein (HDL) cholesterol and an accumulation of neutral lipids coupled with increased mRNA levels of acetyl coenzyme A in peripheral blood mononuclear cells. However, these laboratory findings are in contrast with the data of many observational studies, which have shown that the β-thalassemia trait may have a protective effect against hypertension, coronary artery disease and generally arterial cardiovascular and cerebrovascular disease. In addition, arterial stiffness is a characteristic feature of normal arterial aging, but it is also associated with accelerated cardiovascular disorders and has emerged in the last decades as an important determinant of cardiac function and an independent cardiovascular risk factor.Aim: The aim of the study was to evaluate the elastic arterial properties and the pulse wave augmentation, determined by the pulse wave analysis and pulse wave velocity in a population of healthy asymptomatic individuals with heterozygous β-thalassemia with cardiovasular factors and controls, in an effort to further clarify the cardiovascular impact of the heterozygosity of β-thalassemia. Methods and Results: 202 asymptomatic subjects with cardiovascular risk factors were recreuited, 75 heterozygous β-thalassemia subjects (55.5 [42.75 - 65.25], 48% women) and 127 healthy controls (57 years of age [48 - 63], women 55.1%), who underwent transcutaneous tonometry of radial, carotid and femoral arteries using the SphygmoCor device. Pulse wave analysis revealed that augmentation pressure (AP), augmentation index (AIx), as well as heart rate-corrected augmentation index (AIx-75) were significantly lower in the β-thalassemia heterozygote group compared to controls (mean [interval]: 8.75 [4625-13] vs. 11 [6.5-14.5], p = 0.017; 26.5 [17.5 - 33.375] versus 30.5 [20.75-37.5], p = 0.014 and 22.25 [15,125-29.5] versus 27 [20.5 - 33], p = 0.008, respectively). On the contrary, there was no significant difference in the aortic systolic blood pressure (SBP), aortic pulse pressure (PP) and pulse wave velocity (PWV) between the two study groups.Conclusions: Heterozygous β-thalassemia is associated with favorable pulse augmentation indices in asymptomatic individuals with cardiovascular risk factors. These findings are in concordance with previous reports and provide further support for a possible cardiovascular protective effect of the heterozygosity of β-thalassemia.Εισαγωγή: Η ετερόζυγη β-μεσογειακή αναιμία ή θαλασσαιμία, που παρατηρείται στο 1,5% του παγκόσμιου πληθυσμού, κυρίως στις χώρες της Μεσογείου και συγκεκριμένα στο 6,3% του πληθυσμού στην Ελλάδα, σχετίζεται με ποικίλες ρεολογικές και βιοχημικές αλλοιώσεις που μπορούν να επηρεάσουν την καρδιαγγειακή λειτουργία. Υπάρχουν αναφορές, σύμφωνα με τις οποίες τα άτομα με ετερόζυγη β-θαλασσαιμία παρουσιάζουν έναν προαθηρογόνο βιοχημικό φαινότυπο, ο οποίος χαρακτηρίζεται κυρίως από μείωση της χοληστερόλης λιποπρωτεΐνης υψηλής πυκνότητας (HDL) και συσσώρευση ουδέτερων λιπιδίων συζευγμένων με αυξημένα επίπεδα mRNA ακετυλο-συνένζυμου Α στα μονοπύρηνα κύτταρα του περιφερικού αίματος. Ωστόσο αυτά τα εργαστηριακά ευρήματα έρχονται σε αντίθεση με την παρατήρηση της ύπαρξης μιας προστατευτικής επίδρασης του στίγματος της β-μεσογειακής αναιμίας κατά της υπέρτασης, της στεφανιαίας νόσου και γενικότερα κατά της καρδιαγγειακής νόσου. Επιπλέον η αρτηριακή δυσκαμψία ή σκληρία είναι χαρακτηριστικό γνώρισμα της φυσιολογικής αρτηριακής γήρανσης, αλλά συνδέεται επίσης με επιταχυνόμενες καρδιαγγειακές διαταραχές, έχοντας αναδειχθεί ως σημαντικός καθοριστικός παράγοντας της καρδιαγγειακής λειτουργίας και ανεξάρτητος παράγοντας καρδιαγγειακού κινδύνου στις τελευταίες δεκαετίες. Στόχος: Ο στόχος της μελέτης ήταν να αξιολογηθούν οι ελαστικές αρτηριακές ιδιότητες όπως αυτές προσδιορίζονται από τους δείκτες αύξησης (ανάλυση του σφυγμικού κύματος), καθώς επίσης από την ταχύτητα του σφυγμικού κύματος σε έναν πληθυσμό υγιών ασυμπτωματικών ατόμων με ετερόζυγη β-μεσογειακή αναιμία, ως μια προσπάθεια αποσαφήνισης της καρδιαγγειακής επίδρασης της τελευταίας.Μέθοδοι και αποτελέσματα: Μελετήθηκαν 202 ασυμπτωματικά άτομα με κλασικούς καρδιαγγειακούς παράγοντες κινδύνου, 75 άτομα με ετερόζυγη β-θαλασσαιμία (ηλικίας 55.5 [42,75 - 65,25], γυναίκες 48%) και 127 υγιείς μάρτυρες (ηλικίας 57 ετών [48 - 63], γυναίκες 55,1%), τα οποία υποβλήθηκαν σε διαδερμική τονομετρία της κερκιδικής, της καρωτίδας και της μηριαίας αρτηρίας με τη βοήθεια της συσκευής SphygmoCor. Η ανάλυση του σφυγμικού κύματος αποκάλυψε ότι η αυξητική πίεση (AP), ο αυξητικός δείκτης (AIx), και ο αυξητικός δείκτης διορθωμένος ως προς την καρδιακή συχνότητα (AIx@75) ήταν σημαντικά χαμηλότεροι στην ομάδα της ετερόζυγης β-θαλασσαιμίας σε σύγκριση με τους μάρτυρες (μέση τιμή [διατεταρτημοριακό εύρος]: 8.75 [4625 - 13] έναντι 11 [6,5 - 14,5], p = 0.017; 26.5 [17,5 - 33,375] έναντι 30.5 [20,75 - 37,5], p = 0.014 και 22.25 [15,125 - 29,5] έναντι 27 [20,5 - 33], p = 0.008, αντίστοιχα). Αντίθετα, η αορτική συστολική πίεση (SBP), η αορτική πίεση παλμού (PP) και η ταχύτητα σφυγμικού κύματος (PWV) δεν διέφεραν σημαντικά στις δύο ομάδες της μελέτης.Συμπεράσματα: Η ετερόζυγη β-θαλασσαιμία σχετίζεται με ευνοϊκούς αυξητικούς δείκτες σφυγμικού κύματος σε ασυμπτωματικά άτομα με καρδιαγγειακούς παράγοντες κινδύνου. Τα ευρήματα αυτά είναι σύμφωνα με προηγούμενες αναφορές και έρχονται να υποστηρίξουν την πιθανή καρδιαγγειακή προστατευτική επίδραση της ετεροζυγωτίας της β-θαλασσαιμίας

Cardiovascular Magnetic Resonance Imaging Patterns in Rare Cardiovascular Diseases

Rare cardiovascular diseases (RCDs) have low incidence but major clinical impact. RCDs’ classification includes Class I—systemic circulation, Class II—pulmonary circulation, Class III—cardiomyopathies, Class IV—congenital cardiovascular diseases (CVD), Class V—cardiac tumors and CVD in malignancy, Class VI—cardiac arrhythmogenic disorders, Class VII—CVD in pregnancy, Class VIII—unclassified rare CVD. Cardiovascular Magnetic Resonance (CMR) is useful in the diagnosis/management of RCDs, as it performs angiography, function, perfusion, and tissue characterization in the same examination. Edema expressed as a high signal in STIRT2 or increased T2 mapping is common in acute/active inflammatory states. Diffuse subendocardial fibrosis, expressed as diffuse late gadolinium enhancement (LGE), is characteristic of microvascular disease as in systemic sclerosis, small vessel vasculitis, cardiac amyloidosis, and metabolic disorders. Replacement fibrosis, expressed as LGE, in the inferolateral wall of the left ventricle (LV) is typical of neuromuscular disorders. Patchy LGE with concurrent edema is typical of myocarditis, irrespective of the cause. Cardiac hypertrophy is characteristic in hypertrophic cardiomyopathy (HCM), cardiac amyloidosis (CA) and Anderson–Fabry Disease (AFD), but LGE is located in the IVS, subendocardium and lateral wall in HCM, CA and AFD, respectively. Native T1 mapping is increased in HCM and CA and reduced in AFD. Magnetic resonance angiography provides information on aortopathies, such as Marfan, Turner syndrome and Takayasu vasculitis. LGE in the right ventricle is the typical finding of ARVC, but it may involve LV, leading to the diagnosis of arrhythmogenic cardiomyopathy. Tissue changes in RCDs may be detected only through parametric imaging indices

The Emerging Role of Combined Brain/Heart Magnetic Resonance Imaging for the Evaluation of Brain/Heart Interaction in Heart Failure

Heart failure (HF) patients frequently develop brain deficits that lead to cognitive dysfunction (CD), which may ultimately also affect survival. There is an important interaction between brain and heart that becomes crucial for survival in patients with HF. Our aim was to review the brain/heart interactions in HF and discuss the emerging role of combined brain/heart magnetic resonance imaging (MRI) evaluation. A scoping review of published literature was conducted in the PubMed EMBASE (OVID), Web of Science, Scopus and PsycInfo databases. Keywords for searches included heart failure, brain lesion, brain, cognitive, cognitive dysfunction, magnetic resonance imaging cardiovascular magnetic resonance imaging electroencephalogram, positron emission tomography and echocardiography. CD testing, the most commonly used diagnostic approach, can identify neither subclinical cases nor the pathophysiologic background of CD. A combined brain/heart MRI has the capability of diagnosing brain/heart lesions at an early stage and potentially facilitates treatment. Additionally, valuable information about edema, fibrosis and cardiac remodeling, provided with the use of cardiovascular magnetic resonance, can improve HF risk stratification and treatment modification. However, availability, familiarity with this modality and cost should be taken under consideration before final conclusions can be drawn. Abnormal CD testing in HF patients is a strong motivating factor for applying a combined brain/heart MRI to identify early brain/heart lesions and modify risk stratification accordingly

Cardiovascular magnetic resonance for the evaluation of patients with cardiovascular disease: An overview of current indications, limitations, and procedures

Cardiovascular disease (CVD) is the most common cause of morbidity/mortality worldwide. Early diagnosis is the key to improve CVD prognosis, and cardiovascular imaging plays a crucial role in this direction. Echocardiography is the most commonly used imaging modality. However, the need for early diagnosis/treatment favors the development of modalities providing information about tissue characterization beyond echocardiography. In this context, the rapid evolution of cardiovascular magnetic resonance (CMR) led to the coexistence of cardiologists and radiologists in the CMR field. Our aim was to provide an overview of indications, sequences, and reporting of CMR findings in various CVDs. The indications/limitations of CMR as well as the pathophysiological significance of various sequences in adult/pediatric CVDs are presented and discussed in detail. The role of CMR indices in the evaluation of the most common clinical scenarios in cardiology and their impact on CVD diagnosis/prognosis were analyzed in detail. Additionally, the comparison of CMR versus other imaging modalities is also discussed. Finally, future research directions are presented. CMR can provide cardiac tissue characterization and biventricular/biatrial functional assessment in the same examination, allowing for early and accurate identification of important subclinical abnormalities, before clinically overt CVD takes place