Heart Failure (HF) is characterized by an elevated readmission rate, with almost 50% of events occurring after the first episode over the first 6 months of the post-discharge period. In this context, the vulnerable phase represents the period when patients elapse from a sub-acute to a more stabilized chronic phase. The lack of an accurate approach for each HF subtype is probably the main cause of the inconclusive data in reducing the trend of recurrent hospitalizations. Most care programs are based on the main diagnosis and the HF stages, but a model focused on the specific HF etiology is lacking. The HF clinic route based on the HF etiology and the underlying diseases responsible for HF could become an interesting approach, compared with the traditional programs, mainly based on non-specific HF subtypes and New York Heart Association class, rather than on detailed etiologic and epidemiological data. This type of care may reduce the 30-day readmission rates for HF, increase the use of evidence-based therapies, prevent the exacerbation of each comorbidity, improve patient compliance, and decrease the use of resources. For all these reasons, we propose a dedicated outpatient HF program with a daily practice scenario that could improve the early identification of symptom progression and the quality-of-life evaluation, facilitate the access to diagnostic and laboratory tools and improve the utilization of financial resources, together with optimal medical titration and management.
Abstract Background Transthyretin amyloidosis is a life-threatening disorder caused by the deposition of TTR amyloid in various tissues and organs. The most common worldwide pathogenic variant with almost exclusive cardiac involvement is Val122Ile (rs76992529), with an allele frequency of 3.5% in the U.S. African-American population, but rare in Caucasians. Unexpectedly, we identified 23 Caucasian individuals with Val122Ile in our amyloidosis referral center (9 affected patients, 14 carriers), belonging to 9 unrelated families. Purpose To determine the ancestral origin of the Tuscan founder population of TTR Val122Ile carriers. Methods A total of 24 individuals were included in the analysis (our 23 probands and relatives from Val122Ile families and the Caucasian reference sample NA10851 (CEU – Utah resident with European ancestry). All samples were genotyped using the EUROFORGEN Global AIM-SNP array1, inclusive of 127 highly informative SNPs to infer genetic ancestry. We have performed a principal component analysis (PCA) of the 9 unrelated probands and NA10851, compared with the Phase 3 of the 1000 Genomes Project data, comprising 2504 unrelated individuals from >20 distinct populations.(Figure 1). Results As shown in Figure 1, all our samples but one (from Argentina) cluster very close to the super-cluster of European populations, and distant from the populations of African ancestry. The proband from Argentina and the Caucasian reference sample NA10851 cluster close to Mexicans and Peruvians, and the super-cluster of European populations, respectively, confirming the robustness of the analysis. Conclusion Based on this result, we can confidently conclude that our samples from Tuscan families in which the TTR Val122Ile variant segregates are of ancestral European origin, with no mixed African ancestry, implying that the same variant originated in Africans and Europeans independently and not as result of genetic admixture. These findings suggest the presence of a mutational hot spots in TTR, with potential impact on the epidemiology of amyloidosis worldwide. Acknowledgement/Funding The present study was supported by an Investigator-Initiated Research to Azienda Ospedaliero Universitaria Careggi from Pfizer Srl.
Background— Multidetector CT coronary angiography (MDCTCA) is capable of detecting coronary artery disease (CAD) with a high diagnostic accuracy. In particular, this technique is credited with having a negative predictive value close to 100%. However, data about the prognostic value of MDCTCA are currently lacking. We sought to determine the prognostic value of MDCTCA in patients with suspected but undocumented CAD and, in particular, the incremental prognostic value as compared with clinical risk and calcium scoring. Methods and Results— A total of 441 patients (age, 59.7±11.6 years) with suspected CAD underwent MDCTCA to evaluate the presence and severity of the disease. Patients were followed up as to the occurrence of hard cardiac events (cardiac death, nonfatal myocardial infarction, and unstable angina requiring hospitalization). Coronary lesions were detected in 297 (67.3%) patients. During a mean follow-up of 31.9±14.8 months, 44 hard cardiac events occurred in 40 patients. CT calcium scoring showed a statistically significant incremental prognostic value as compared to a baseline clinical risk model ( P =0.018), whereas MDCTCA provided an additional incremental prognostic value as compared with a baseline clinical risk model plus calcium scoring if considering both nonobstructive versus obstructive CAD ( P =0.016) or, better, plaque composition (calcified versus noncalcified and/or mixed plaques, P =0.0001). During follow-up, an excellent prognosis was noted in patients with normal coronary arteries, with an annualized incidence rate of 0.88% if compared with those with mild CAD (3.89%) and with patients with significant coronary disease (8.09%). The presence of noncalcified or mixed plaques, regardless of lesion severity, was found to be the strongest predictor of events ( P <0.0001) as a potential marker of plaque vulnerability. Conclusions— MDCTCA provides independent and incremental prognostic information as compared to baseline clinical risk factors and calcium scoring in patients with suspected CAD.
Abstract Background Left atrial function (AEF) is a parameter of paramount importance that has a prognostic value in a number of heart conditions. Cardiac involvement in both light-chain and transthyretin amyloidosis is the main driver of prognosis and influences treatment strategies. Cardiac magnetic resonance (CMR) provides high quality images of the left and right atria using high temporal resolution steady state free precession (SSFP) cine sequences. Purpose The aim of our study was to assess by CMR left atrial function and his correlation with prognosis in patients with cardiac amyloidosis. Method We enrolled 80 consecutive patients with diagnosis of cardiac amyloidosis: 38 patients (47%) with light-chain and 42 patients (53%) with transthyretin one. CMR was performed using a 1.5-T scanner. In all subjects, the study of atria was obtained by acquiring cine steady-state free precession (SSFP). Left Atrial function was evaluated by the ratio between the maximum and the minimum LA volume. A median follow up of 937 days was performed and 36 patients (44%) died of cardiac causes. We evaluated cardiac death as endpoint. We split out all the patient in 4 different quartiles depending on left atrial function: in the first quartile patients with AEF≤14% that reflects severe atrial dysfunction, in the second quartile patients with AEF between 14 and 19%, in the third quartile patients with AEF between 19 and 36% and in the last one patients with AEF≥36% that represent patients with normal value of left atrial function. Results We found that CMR assessed left atrial function allowed to individuate and stratify the prognosis in patients with cardiac amyloidosis. The most effective parameter to evaluate cardiac death was left atrial function with a cut off ≤14% that could predict cardiac related mortality with the same accuracy in both light-chain and transthyretin amyloidosis patients. Kaplan Meier analysis showed that patients with AEF≤14% had a worse prognosis as compared to patient with AEF≥14% (log rank p. 0001). Furthermore patients with AEF≤14% have a cardiac death risk of 32% at 1 year and 61% at 3 years. Kaplan Meier analysis Conclusion Cardiac magnetic resonance is an imaging modality that allows to individuate with great accuracy left atrial function in patients with various heart conditions and especially cardiac amyloidosis. CMR left atrial function assessment clearly identifies a subgroup of cardiac amyloid patients with an increased risk of death.
Abstract Background Bicuspid aortic valve (BAV) is the most frequent congenital valve disease in adults. It is often associated with other congenital cardiac defects. Sometimes it is associated with aortic dilatation. BAV is an heterogeneous disease with varying valve morphology (asymmetrical cusp size and rafe), annulus geometry and size, asymmetrical calcification of the aortic valve and left ventricular outflow tract. Case Report A 32 year-old male patient was diagnosed with bicuspid aortic valve after several cardiologic visits for eligibility to competitive sport. Since April 2021 he developed a progressive exertional dyspnea for strenuous efforts. In February 2022, he was referred to our department after a Holter ECG showed a bradyarrhythmia with complete atrioventricular block. The echocardiography evaluation demonstrated a preserved ejection fraction and a bicuspid aortic valve with a mild-moderate regurgitation. The coronary computed tomography showed a thick and calcified bicuspid aortic valve with a coarse calcification of the anterior cuspid that involve the pars membranacea of the interventricular septum. The ergometric exercise demonstrated chronotropy incompetence. The tomography confirmed the mildy aortic root dilatation. Therefore, an MRI was performed and reported a small laminar LGE on the infero-lateral wall of the left ventricle, of unclear significance. He underwent Dual-Chamber permanent pacemaker implantation. A conservative approach was preferred over valvular replacement, considering the mild aortic root dilatation on a background of mild-to- moderate aortic insufficiency. Conclusion Our case is unusual given the bicuspid aortic valve concomitant with atrioventricular block, which was connected with the location of the calcification. Thus, the aim of our case report is, to describe a complication to this condition which, although rare, represents a different clinical presentation of the pathology itself in a young adult.
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