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The identification of rare diseases with cardiovascular involvement poses significant diagnostic challenges due to the rarity of the diseases, but also due to the lack of knowledge and expertise. Most of them remain underrecognized and undiagnosed, leading to clinical mismanagement and affecting the patients’ prognosis, as these diseases are per definition life-threatening or chronic debilitating. This article reviews the cardiovascular involvement of the most well-known rare metabolic and endocrine diseases and their diagnostic approach through the lens of cardiovascular magnetic resonance (CMR) imaging and its prognostic role, highlighting its fundamental value compared to other imaging modalities.

Structured AbstractBackgroundAssessment of left ventricular (LV) function and volume after ST-segment elevation myocardial infarction (STEMI) is recommended to guide clinical decision within and after hospitalization. Early after STEMI, initial LV reshaping and hypokinesia may affect analysis of LV function. A comparative evaluation of left ventricular ejection fraction (LVEF) and stroke volume (SV) by different imaging modalities to assess LV function early after STEMI has not been performed so far.MethodsLV function was assessed by LVEF and SV using serial imaging within 24h and 5 days after STEMI with cineventriculography (CVG), 2-dimensional echocardiography (2DE), 2D and 3D cardiovascular magnetic resonance (2D/3D) in 82 patients. Respective parameters were compared between modalities and to 3D gold standard CMR.Results2D analyses of LVEF using CVG and 2DE as well as 2D CMR yielded uniform results within 24h and 5 days of STEMI. SV assessment between CVG and 2DE at day 1 after STEMI was comparable, whereas values for SV were higher using 2D CMR on all occasions (pConclusionsEarly after STEMI, 2D analysis of LVEF yielded robust results across all imaging techniques implying that CVG, 2DE, and 2D CMR can be used interchangeably in this setting. SV measurements to assess cardiac function differed substantially between imaging techniques due to higher intermodality-differences of absolute volumetric measurements.

Objectives Distinguishing hypertrophic cardiomyopathy (HCM) from left ventricular hypertrophy (LVH) due to systematic training (athlete’s heart, AH) from morphologic assessment remains challenging. The purpose of this study was to examine the role of T2 mapping and deformation imaging obtained by cardiovascular magnetic resonance (CMR) to discriminate AH from HCM with (HOCM) or without outflow tract obstruction (HNCM). Methods Thirty-three patients with HOCM, 9 with HNCM, 13 strength-trained athletes as well as individual age- and gender-matched controls received CMR. For T2 mapping, GRASE-derived multi-echo images were obtained and analyzed using dedicated software. Besides T2 mapping analyses, left ventricular (LV) dimensional and functional parameters were obtained including LV mass per body surface area (LVMi), interventricular septum thickness (IVS), and global longitudinal strain (GLS). Results While LVMi was not significantly different, IVS was thickened in HOCM patients compared to athlete’s. Absolute values of GLS were significantly increased in patients with HOCM/HNCM compared to AH. Median T2 values were elevated compared to controls except in athlete’s heart. ROC analysis revealed T2 values (AUC 0.78) and GLS (AUC 0.91) as good parameters to discriminate AH from overall HNCM/HOCM. Conclusion Discrimination of pathologic from non-pathologic LVH has implications for risk assessment of competitive sports in athletes. Multiparametric CMR with parametric T2 mapping and deformation imaging may add information to distinguish AH from LVH due to HCM. Key Points • Structural analyses using T2 mapping cardiovascular magnetic resonance imaging (CMR) may help to further distinguish myocardial diseases. • To differentiate pathologic from non-pathologic left ventricular hypertrophy, CMR including T2 mapping was obtained in patients with hypertrophic obstructive/non-obstructive cardiomyopathy (HOCM/HNCM) as well as in strength-trained athletes. • Elevated median T2 values in HOCM/HNCM compared with athlete’s may add information to distinguish athlete’s heart from pathologic left ventricular hypertrophy.

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.

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.

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.

Aims Percutaneous mitral valve repair (PMVR) has emerged as standard treatment in selected patients with clinically relevant mitral regurgitation (MR) and increased surgical risk. We aimed to evaluate the safety and clinical outcomes in nonagenarians undergoing PMVR. Methods and results Altogether, 493 patients with severe MR who were treated with PMVR were included in this open‐label prospective study and followed up for 2 years. We treated 25 patients with PMVR aged 90 years or above, 185 patients aged 80–89 years, and 283 patients aged

β-Thalassemia minor (β-Τm) is associated with rheological and biochemical alterations that can affect cardiovascular function. We aimed to evaluate the elastic arterial properties and the pulse wave augmentation indices in a population of patients with β-Τm. Seventy-five individuals with β-Τm (age 55.5 [42.75-65.25], women 48%) and 127 controls (age 57 years [48-63], women 55.1%) underwent comprehensive echocardiographic evaluation and applanation tonometry of the radial and femoral artery. Pulse wave analysis revealed that augmentation pressure, augmentation index (AIx), and heart rate–corrected AIx were significantly lower (median [interquartile range]: 8.75 [4.625-13] vs 11 [6.5-14.5], P = .017; 26.5 [17.5-33.375] vs 30.5 [20.75-37.5], P = .014; and 22.25 [15.125-29.5] vs 27 [20.5-33], P = .008, respectively) in the β-Τm group compared to controls. The left atrial active emptying volume was significantly lower and the isovolumic relaxation time was shorter in the β-Τm group compared to the control group (10.2 [7.4-14.4] vs 12.0 [8.6-15.8], P = .040 and 78 [70-90] vs 90 [70-104], P = .034, respectively). β-Thalassemia minor is associated with favorable pulse wave augmentation indices and left ventricular diastolic function profile in asymptomatic individuals with cardiovascular risk factors.