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1.
Int J Cardiol ; 407: 132000, 2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-38561108

RESUMEN

AIM: To evaluate the association between raphe in bicuspid aortic valve (BAV) patients and valve dysfunction, aortopathy and aortic valve surgery in the REBECCA registry [REgistro della valvola aortica Bicuspide della Società Italiana di ECocardiografia e CArdiovascular Imaging (SIECVI)]. METHODS: Prevalence of aortic valve dysfunction and aortopathy was investigated in BAV patients with and without raphe. Aortic valve dysfunction (regurgitation or stenosis) was categorized as mild, moderate and severe. Aortopathy was defined as annulus ≥14 mm/m2; root ≥20 mm/m2; sinotubular junction ≥16 mm/m2; ascending aorta ≥17 mm/m2, and classified in Type A, isolated ascending aorta dilatation; Type B, aortic root and ascending aorta dilatation; and Type C, isolated aortic root dilatation. RESULTS: Overall, 695 patients with BAV were enrolled; 520 (74.8%) with raphe and 175 (25.2%) without raphe. BAV patients with raphe presented more frequently with moderate or severe aortic stenosis than BAV patients without raphe (183 [35.2%] vs 34 [19.4%], p < 0.001). A higher prevalence of aortopathy, particularly Type B, was observed in patients with vs without raphe. At multivariable analysis, raphe was a predictor of aortic valve surgery at three-year follow-up (odds ratio 2.19, 95% confidence interval 1.08-4.44, p < 0.001). CONCLUSIONS: Patients with BAV and raphe have a higher prevalence of significant aortic stenosis, aortopathy, especially Type B, and a higher risk of undergoing aortic valve surgery at three-year follow-up.


Asunto(s)
Válvula Aórtica , Enfermedad de la Válvula Aórtica Bicúspide , Enfermedades de las Válvulas Cardíacas , Sistema de Registros , Humanos , Masculino , Femenino , Enfermedad de la Válvula Aórtica Bicúspide/cirugía , Enfermedad de la Válvula Aórtica Bicúspide/diagnóstico por imagen , Enfermedad de la Válvula Aórtica Bicúspide/complicaciones , Persona de Mediana Edad , Válvula Aórtica/anomalías , Válvula Aórtica/cirugía , Válvula Aórtica/diagnóstico por imagen , Anciano , Enfermedades de las Válvulas Cardíacas/cirugía , Enfermedades de las Válvulas Cardíacas/diagnóstico por imagen , Enfermedades de las Válvulas Cardíacas/complicaciones , Enfermedades de la Aorta/cirugía , Enfermedades de la Aorta/diagnóstico por imagen , Enfermedades de la Aorta/epidemiología , Adulto , Estenosis de la Válvula Aórtica/cirugía , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estudios de Seguimiento , Italia/epidemiología
2.
J Clin Med ; 13(6)2024 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-38541896

RESUMEN

Background: The pathophysiological impact of systemic vascular resistance (SVR) and pressure-strain loop-derived global myocardial work index (GWI) in hypertrophic cardiomyopathy (HCM) and transthyretin cardiac amyloidosis (ATTR) has been randomly investigated. Methods: Both SVR and GWI were assessed in outpatients consecutively referred at two Italian cardiology departments for heart failure with preserved left ventricular ejection fraction (LVEF), affected by either nonobstructive HCM or wild-type ATTR. Based on relevant cross-tabulations, the patients were gathered into 4 functional classes according to cut-off values of 1440 dyne/s/cm-5 for SVR, and 1576 mm Hg% for GWI, as suggested by previous studies. Results: A total of 60 patients, 30 in each group, aged 61 ± 16 years, with 78% males, were studied. HCM patients were younger than those with ATTR and in a better clinical condition (23% HCM vs. 77% ATTR were NYHA class II-III, p < 0.001). Overall, 51 patients (85%) showed a high SVR, 21/30 HCM (70%), and 30 ATTR (100%) (p < 0.005). Both SVR and GWI (expressions of ventricular-arterial coupling) were impaired in 43% of HCM patients (showing greater LV concentric hypertrophy) and 93% of ATTR patients (in advanced NYHA functional class) (p < 0.001). Conclusions: A substantial percentage of present study population showed impaired SVR and/or GWI, despite preserved LVEF. The proposed classification may shed further light on the pathophysiological and clinical characteristics of such hypertrophic phenotypes.

3.
J Cardiovasc Med (Hagerstown) ; 25(3): 218-224, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38305134

RESUMEN

BACKGROUND: The 2022 ESC Guidelines on Cardio-Oncology recommend baseline cardiovascular risk stratification before starting anticancer drugs, using the new risk assessment tools proposed by the Heart Failure Association (HFA) and the International Cardio-Oncology Society (ICOS).Our study aimed to assess the clinical application of HFA/ICOS risk score in breast cancer patients undergoing chemotherapy and its usefulness in predicting the development of chemotherapy-related cardiac dysfunction (CTRCD). METHODS: A prospective multicentric study enrolled 109 breast cancer patients treated with anthracyclines with or without trastuzumab. A cardiological evaluation, including ECG and echocardiogram at baseline (T0), 3 (T1), 6 (T2), and 12 months (T3) after starting treatment was performed. HFA/ICOS score was assessed in all patients. The population was divided into low, medium, high, and very-high risk.During follow-up, CTRCD and other cardiovascular events have been evaluated. RESULTS: 61 patients were low risk, 37 medium, 9 high, 2 very-high risk criteria. We found a significantly higher incidence of overall cardiotoxicity (CTRCD and other cardiovascular events) in the very-high risk group (100%) compared with the medium (29%) and low risk groups (13%). CTRCD incidence was also significantly higher in the high risk group (55%). CTRCD resulted as being associated with baseline arterial hypertension and baseline HFA/ICOS risk score of high ( p  = 0.006) or very-high ( p  < 0.0001). CONCLUSION: Our study confirms the HFA/ICOS score's ability to predict cardiovascular toxicity in breast cancer women and the need for close monitoring especially in high and very-high risk patients.


Asunto(s)
Antineoplásicos , Neoplasias de la Mama , Cardiopatías , Insuficiencia Cardíaca , Humanos , Femenino , Neoplasias de la Mama/tratamiento farmacológico , Estudios Prospectivos , Antineoplásicos/efectos adversos , Insuficiencia Cardíaca/inducido químicamente , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/tratamiento farmacológico , Cardiotoxicidad , Proteína Coestimuladora de Linfocitos T Inducibles
4.
Curr Probl Cardiol ; 49(3): 102229, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38154703

RESUMEN

In recent years, important advances have been made in the field of Cardio-Oncology. The 2022 ESC Guidelines on Cardio-Oncology proposed a baseline cardiovascular risk stratification for cancer patients and preventive strategies in patients at high and very-high risk of cardiotoxicity. Cardiovascular toxic effects of anti-cancer drugs are being extensively studied; surveillance programs have been proposed, based on the baseline cardiovascular risk. On the other hand, there is little data on Cardio-Oncological management of patients at high and very-high cardiovascular risk with previous cardiovascular diseases. For example, little is known about management of cancer patients with heart failure with reduced ejection fraction (HFrEF), patients with a recent myocardial infarction or other cardiovascular diseases; when to resume anti-cancer drugs after a cardiovascular toxic event. Collaboration between Cardiologists and Oncologists and multidisciplinary team evaluations are certainly essential to decide the best therapeutic strategy for cancer patients, to treat cancer while saving the heart. Therefore, in the present review, we attempt to provide a useful guide to clinicians in treating patients with high and very-high risk of cardiotoxicity by enucleating main questions and answering them based on the evidence available as well as expert opinion and our clinical experience.


Asunto(s)
Antineoplásicos , Insuficiencia Cardíaca , Neoplasias , Disfunción Ventricular Izquierda , Humanos , Insuficiencia Cardíaca/terapia , Insuficiencia Cardíaca/tratamiento farmacológico , Cardiotoxicidad/etiología , Cardiotoxicidad/prevención & control , Volumen Sistólico , Neoplasias/tratamiento farmacológico , Neoplasias/inducido químicamente , Antineoplásicos/efectos adversos , Disfunción Ventricular Izquierda/inducido químicamente
5.
Life (Basel) ; 13(12)2023 Dec 07.
Artículo en Inglés | MEDLINE | ID: mdl-38137907

RESUMEN

BACKGROUND: Clinically, there is considerable heterogeneity in the presentation of transthyretin amyloidosis (ATTR), which ranges from primarily cardiac and primarily neurologic to mixed disease, among other manifestations. Because of this complex presentation, the diagnosis and management of patients with ATTR are often challenging and should be performed in interdisciplinary centers specialized in amyloidosis. Here, we aimed to increase awareness of ATTR detection and pathophysiology through a multidimensional multiorgan approach. CASE REPORT: We reported on a 60-year-old man with wild-type ATTR who underwent a number of both basic and advanced cardiological and neurological investigations at baseline and after a treatment period with the TTR tetramer stabilizer, tafamidis. Several findings are provided here, some of which might be considered instrumental correlates of the patient's clinical improvement after therapy. CONCLUSIONS: Adequate awareness and prompt recognition of ATTR support early diagnosis and faster access to therapies, thereby slowing the progression and improving the prognosis. The need for a multidisciplinary alliance between specialists and the opportunity to perform, at least in selected cases, a set of specific examinations for a detailed assessment of ATTR patients can also provide valuable insights into the physiopathology and response to therapy of a disease as complex and intriguing as ATTR.

6.
Aerosp Med Hum Perform ; 94(11): 835-842, 2023 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-37853596

RESUMEN

INTRODUCTION: Heart rate variability (HRV) indicates the temporal fluctuation of the intervals between adjacent beats. HRV expresses neuro-cardiac activity and is generated by heart-brain interactions and dynamics related to the function of the autonomous nervous system and other components. To investigate this issue, we started a series of experiments by coupling the flight tasks of student pilots and their HRV.METHODS: Before each experimental session, the participating student was fitted with a five-electrode, three-channel Holter electrocardiogram monitor. We defined three time-phases for each training mission: before flight operations on the ground, during flight operations, and after flight operations on the ground. The HRV analysis was performed by quantifying some indices of the time domain and the frequency domain.RESULTS: The analysis of RR-wave intervals revealed two types of trends: 1) students whose RR intervals decreased during flight operations compared to before flight ground operations; and 2) students whose RR intervals increased during flight operations compared to before flight ground operations. These differences found in the RR intervals produced changes in the indices of both the time and frequency domains of the two students' samples.DISCUSSION: Flight training involves regular and advanced tasks and/or emergency situations. When this happens, the total power of the heart decreases because the RR intervals are forced toward low values. Flight activity involves continuous demanding tasks that can be potentially read by an analysis of the HRV; a high HRV ensures better management of tasks that require a greater commitment of cardiovascular function.Li Volsi G, Monte IP, Aruta A, Gulizzi A, Libra A, Mirulla S, Panebianco G, Patti G, Quattrocchi F, Bellantone V, Castorina W, Arcifa S, Papale F. Heart rate variability indices of student pilots undergo modifications during flight training. Aerosp Med Hum Perform. 2023; 94(11):835-842.


Asunto(s)
Corazón , Pilotos , Humanos , Frecuencia Cardíaca/fisiología , Electrocardiografía , Estudiantes
7.
Am J Cardiol ; 208: 173-179, 2023 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-37852127

RESUMEN

Global left ventricular (LV) myocardial work (MW) indexes can be recognized at ultrasound imaging from the LV pressure/global longitudinal strain (GLS) loop analysis. A total of 4 indexes, global work index (GWI), global constructive work (GCW), global wasted work (GWW), and global work efficiency (GWE), have been demonstrated to overcome the methodological limitations of GLS and provide useful information on myocardial dysfunction in some clinical settings. Although impaired MW indexes have been demonstrated in patients with transthyretin cardiac amyloidosis (ATTR) or with nonobstructive hypertrophic cardiomyopathy (HCM), there are no comparative studies at present. This study aimed to describe the characteristics of MW in both these clinical settings compared with patients with well-controlled hypertension (HTN). A total of 83 patients, 32 with ATTR (aged 70 ± 11 years, 32% mutated, 68% wild-type, 72% men), 29 with HCM (aged 57 ± 17 years), and 22 HTN controls (aged 56 ± 5.6 years, 59% men) were prospectively enrolled at 2 clinical centers. All participants had New York Heart Association class I or II. Overall, the LV mass index was greater in both study groups than in HTN, whereas the LV ejection fraction (EF) was significantly lower in ATTR compared with other groups. Based on this finding, patients with ATTR were further divided into 2 subgroups: ATTR1 (LVEF ≤0.50), n = 14 (44%) and ATTR2 (LVEF >0.50), n = 18 (56%). Overall, the GWI and GCW were lower in all ATTR patients (mostly in ATTR1) than in the other groups (p <0.001), whereas only small differences in GWE and none in GWW were found among the groups. Of interest, the pairwise comparison and receiver operating characteristic analysis in preserved LVEF patients showed that GWI was a better discriminator of ATTR2 from HCM patients than GLS, with the cut-off value ≤1,419 mm Hg% (89% sensitivity; 55% specificity; p = 0.013). In conclusion, MW analysis was confirmed to be a modern way to investigate myocardial function in patients with hypertrophic phenocopies. GWI and GCW were more impaired in patients with ATTR compared with HCM and HTN controls. Furthermore, this study likely revealed an additional discriminative value of GWI over GLS alone in preserved LVEF settings.


Asunto(s)
Amiloidosis , Cardiomiopatía Hipertrófica , Hipertensión , Masculino , Humanos , Femenino , Prealbúmina , Cardiomiopatía Hipertrófica/diagnóstico por imagen , Miocardio , Tensión Longitudinal Global , Volumen Sistólico , Función Ventricular Izquierda
8.
Genes (Basel) ; 14(9)2023 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-37761944

RESUMEN

Anderson-Fabry Disease (AFD) is a rare, systemic lysosomal storage disease triggered by mutations in the GLA gene, leading to α-galactosidase A (α-Gal A) deficiency. The disease's X-linked inheritance leads to more severe, early-onset presentations in males, while females exhibit variable, often insidious, manifestations, notably impacting cardiac health. This study aims to examine gender-based AFD cardiac manifestations in correlation with the variant type: classical (CL), late-onset (LO), or variants of uncertain significance (VUS). We analyzed data from 72 AFD patients (53 females, 19 males) referred to the "G. Rodolico" University Hospital, employing enzyme activity measurements, genetic analysis, periodic lyso-Gb3 monitoring, comprehensive medical histories, and advanced cardiac imaging techniques. Statistical analysis was performed using SPSS version 26. Our AFD cohort, with an average age of 45 ± 16.1 years, comprised 12 individuals with hypertrophy (AFD-LVH) and 60 without (AFD-N). Women, representing about 75% of the subjects, were generally older than men (47.2 ± 16.2 vs. 38.8 ± 14.6, p = 0.046). In the female group, 17% had CL variants, 43.3% LO, and 39.6% had VUS, compared to 21.1%, 36.8%, and 31.6% in the male group, respectively. Females exhibited significantly higher α-Gal A values (median 7.9 vs. 1.8 nmol/mL/h, p < 0.001) and lower lyso-Gb3 levels (1.5 [IQR 1.1-1.7] vs. 1.9 [1.5-17.3] nmol/L, p = 0.02). Regarding the NYHA class distribution, 70% of women were in class I and 28% in class II, compared to 84% and 16% of men, respectively. Among women, 7.5% exhibited ventricular arrhythmias (10.5% in men), and 9.4% had atrial fibrillation (10.5% in men). Cardiac MRIs revealed fibrosis in 57% of examined women, compared to 87% of men. Even among patients without LVH, significant differences persisted in α-Gal A and lyso-Gb3 levels (p = 0.003 and 0.04), as well as LVMi (61.5 vs. 77.5 g/sqm, p = 0.008) and GLS values (-20% vs. -17%, p = 0.01). The analysis underscored older age, decreased lyso-Gb3 deposition, reduced hypertrophy, and lesser GLS compromise in females, suggesting later disease onset. Severe cardiac patterns were associated with classic variants, while more nuanced manifestations were noted in those with VUS. Early GLS impairment in males, irrespective of hypertrophy, emphasized the role of subclinical damage in AFD.


Asunto(s)
Cardiomiopatías , Enfermedad de Fabry , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Caracteres Sexuales , Enfermedad de Fabry/diagnóstico por imagen , Enfermedad de Fabry/genética , alfa-Galactosidasa/genética , Cardiomiopatías/diagnóstico por imagen , Cardiomiopatías/genética , Cardiomiopatías/complicaciones , Hipertrofia/complicaciones
9.
J Cardiovasc Dev Dis ; 10(6)2023 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-37367426

RESUMEN

Background: Left atrial (LA) function is crucial for assessing left ventricular filling in various cardiovascular conditions. Cardiac Amyloidosis (CA) is characterized by atrial myopathy and LA function impairment, with diastolic dysfunction up to restrictive filling pattern, leading to progressive heart failure and arrhythmias. This study evaluates LA function and deformation using speckle tracking echocardiography (STE) in patients with CA compared to a cohort of patients with sarcomeric Hypertrophic Cardiomyopathy (HCM) and a control group. Methods: We conducted a retrospective, observational study (from January 2019 to December 2022) including a total of 100 patients: 33 with ATTR-CA, 34 with HCMs, and 33 controls. Clinical evaluation, electrocardiograms, and transthoracic echocardiography were performed. Echocardiogram images were analyzed in post-processing using EchoPac software for LA strain quantification, including LA-reservoir, LA-conduit, and LA-contraction strain. Results: The CA group exhibited significantly impaired LA function compared to HCMs and control groups, with LA-reservoir median values of -9%, LA-conduit -6.7%, and LA-contraction -3%; this impairment was consistent even in the CA subgroup with preserved ejection fraction. LA strain parameters correlated with LV mass index, LA volume index, E/e', and LV-global longitudinal strain and were found to be associated with atrial fibrillation and exertional dyspnea. Conclusions: LA function assessed by STE is significantly impaired in CA patients compared to HCMs patients and healthy controls. These findings highlight the potential supportive role of STE in the early detection and management of the disease.

10.
Aerosp Med Hum Perform ; 94(6): 475-479, 2023 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-37194170

RESUMEN

BACKGROUND: Heart rate (HR) indicates the number of beats per minute (bpm) of the heart, while heart rate variability (HRV) indicates the temporal fluctuation of the intervals between adjacent beats (NN). HRV expresses neuro-cardiac activity and is generated by heart-brain interactions and dynamics related to the function of the autonomic nervous system (ANS) and other components (e.g., body and ambient temperature, respiration, hormones, blood pressure). We are carrying out a series of experimental investigations with the aim of studying HRV in student pilots during training.CASE REPORT: For this purpose, we used a Holter electrocardiograph equipped with three channels and five electrodes positioned on the chest of the subject who participated in our investigation. The case report refers to a student pilot who, during a flight mission with the instructor, had to face a forced landing and a flap failure. We report data based on analysis of the time domain and frequency domain related to operations on the ground before the flight, during the flight, and on the ground after the flight.DISCUSSION: Our initial conclusion is that the extent of HRV constitutes an "energy store" for better cardiac performance in eustress activities. During advanced tasks, the "Total Power" of the heart decreases because the RR intervals are forced toward low values, where the heart is less able to be modulated by its many controllers. Furthermore, this experimental protocol can be useful to flight instructors for the training process of student pilots.Li Volsi G, Monte IP, Aruta A, Gulizzi A, Libra A, Mirulla S, Panebianco G, Patti G, Quattrocchi F, Bellantone V, Castorina W, Arcifa S, Papale F. Heart rate variability of a student pilot during flight training. Aerosp Med Hum Perform. 2023; 94(6):475-479.


Asunto(s)
Corazón , Estudiantes , Humanos , Frecuencia Cardíaca/fisiología , Respiración , Encéfalo
11.
Eur Heart J Open ; 3(2): oead014, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36936390

RESUMEN

Aims: Hypertrophic cardiomyopathies (HCM) are caused in 30-60% of cases by mutations in cardiac sarcomere genes but can also be an expression of cardiac involvement in multi-systemic metabolic diseases, such as Anderson-Fabry disease (AFD). HCM entails a risk of sudden cardiac death (SCD) of 0.9%/year and is the most common cause of SCD in young adults. Recent studies suggested mechanical dispersion (MD) by speckle tracking echocardiography (STE) as an additional arrhythmic risk marker. The aim of the study was to evaluate left ventricle global longitudinal strain (LV-GLS) and MD, in patients with HCM or AFD cardiomyopathy, and the association with ventricular arrhythmias (V-AR). Methods and results: We evaluated 40 patients with HCM, 57 with AFD (12 with LV hypertrophy and 45 without), and 40 healthy subjects, between January 2014 and June 2022. We performed a comprehensive echocardiographic study and analysed systolic and diastolic functions, LV-GLS, and MD. We also analysed V-AR, including ventricular fibrillation and sustained/non-sustained ventricular tachycardia, by Holter electrocardiogram (Holter-EKG), in a subset of hypertrophic patients. Data were analysed by unpaired Student t-test or chi-square/Fisher's exact test as appropriate and binary logistic regression (SPSS Statistics ver.26). LV-GLS was significantly lower in the V-AR group compared with patients without V-AR (median -10.2% vs. -14%, P = 0.038); MD was significantly higher in the V-AR group (85.5 ms vs. 61.1 ms, P = 0.004). V-AR were found significantly associated with MD (OR, 1.030; 95% CI, 1.003-1.058; P = 0.03). Conclusions: MD is a useful additional index in the evaluation of patients with HCM and may be a promising prognostic predictor of increased arrhythmic risk.

12.
J Cardiovasc Echogr ; 32(2): 82-88, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36249438

RESUMEN

The aim of the study was to evaluate the application of global longitudinal strain (GLS) and myocardial work (MW) at rest and during exercise in healthy sedentary or trained participants, to test their ability to improve echocardiographic information and to complement prescribing exercise, cardiac screening, or rehabilitation programs. Methods: Thirty healthy males were divided into three groups of 10, sedentary (G1), resistance (G2) and power (G3) athletes, underwent a standard clinical evaluation protocol and exercise stress testing echocardiography. Results: During stress, all showed increased left ventricular ejection fraction and mitral annulus tissue Doppler (E'). G1 showed a decrease in left atrial volume (LAVi) as opposed to an increase in G3. E/E 'a decrease in G2, unlike the increase in G3. All groups showed increase of Strain (GLS average AV, Longitudinal LS, Medio-Basal MB Apical AP), global constructive work (GCW), and Global wasted work. G1 showed increase for global work efficiency, G2 and G3 for global work index (GWI). G3 showed a greater variation of E/E', LAVi, GWI and GCW compared to G1 and G2, greater of GLS AV, LS-AP compared to G2. Only G3 showed differences for GLS AV versus LS-AP. The relative regional strain ratio showed a greater value in G3 versus G1 at the end of stress compared to rest. Conclusions: The new echocardiographic applications to study the physiological adaptation could open new perspectives for the diagnostic and therapeutic development through the prescription of personalized exercises and screening and follow-up of the early pathological changes of the athlete's heart.

13.
Life (Basel) ; 12(5)2022 Apr 22.
Artículo en Inglés | MEDLINE | ID: mdl-35629291

RESUMEN

(1) Background: As a lysosomal storage disorder, Fabry's disease (FD) shows variable clinical manifestations. We applied our multidisciplinary approach to identify any organ damage in a sample of adult patients with different pathogenic variants. (2) Methods: 49 participants (mean age 44.3 ± 14.2 years; 37 females), underwent a multidimensional clinical and instrumental assessment. (3) Results: At diagnosis, mean enzymatic activity was 5.2 ± 4.6 nM/mL/h in females and 1.4 ± 0.5 nM/mL/h in males (normal values > 3.0), whereas globotriaosylsphingosine was 2.3 ± 2.1 nM/L in females and 28.7 ± 3.5 nM/L in males (normal values < 2.0). Overall, cardiovascular, neurological, and audiological systems were the most involved, regardless of the variant detected. Patients with classic variants (10) showed typical multiorgan involvement and, in some cases, prevalent organ damage (cardiovascular, neurological, renal, and ocular). Those with late-onset variants (39) exhibited lower occurrence of multiorgan impairment, although some of them affected the cardiovascular and neurological systems more. In patients with lower enzymatic activity, the most frequent involvement was neurological, followed by peripheral vascular disease. (4) Conclusions: FD patients exhibited wide phenotypic variability, even at single-organ level, likely due to the individual genetic mutation, although other factors may contribute. Compared to the conventional management, a multidisciplinary approach, as that prompted at our Center, allows one to achieve early clinical detection and management.

14.
J Clin Med ; 10(14)2021 Jul 07.
Artículo en Inglés | MEDLINE | ID: mdl-34300186

RESUMEN

Stress echo (SE) 2030 study is an international, prospective, multicenter cohort study that will include >10,000 patients from ≥20 centers from ≥10 countries. It represents the logical and chronological continuation of the SE 2020 study, which developed, validated, and disseminated the "ABCDE protocol" of SE, more suitable than conventional SE to describe the complex vulnerabilities of the contemporary patient within and beyond coronary artery disease. SE2030 was started with a recruitment plan from 2021 to 2025 (and follow-up to 2030) with 12 subprojects (ranging from coronary artery disease to valvular and post-COVID-19 patients). With these features, the study poses particular challenges on quality control assurance, methodological harmonization, and data management. One of the significant upgrades of SE2030 compared to SE2020 was developing and implementing a Research Electronic Data Capture (REDCap)-based infrastructure for interactive and entirely web-based data management to integrate and optimize reproducible clinical research data. The purposes of our paper were: first, to describe the methodology used for quality control of imaging data, and second, to present the informatic infrastructure developed on RedCap platform for data entry, storage, and management in a large-scale multicenter study.

15.
J Cardiovasc Echogr ; 30(2): 52-61, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33282641

RESUMEN

BACKGROUND: Low-gradient aortic stenosis (LG-AS) is characterized by the combination of an aortic valve area compatible with severe stenosis and a low transvalvular mean gradient with low-flow state (i.e., indexed stroke volume <35 mL/m2) in the presence of reduced (classical low-flow AS) or preserved (paradoxical low-flow AS) ejection fraction. Furthermore, the occurrence of a normal-flow LG-AS is still advocated by many authors. Within this diagnostic complexity, the diagnosis of severe AS remains challenging. OBJECTIVE: The general objective of the Discordant Echocardiographic Grading in Low-gradient AS (DEGAS Study) study will be to assess the prevalence of true severe AS in this population and validate new parameters to improve the assessment and the clinical decision-making in patients with LG-AS. METHODS AND ANALYSES: The DEGAS Study of the Italian Society of Echocardiography and Cardiovascular Imaging is a prospective, multicenter, observational diagnostic study that will enroll consecutively adult patients with LG-AS over 2 years. AS severity will be ideally confirmed by a multimodality approach, but only the quantification of calcium score by multidetector computed tomography will be mandatory. The primary clinical outcome variable will be 12-month all-cause mortality. The secondary outcome variables will be (i) 30-day mortality (for patients treated by Surgical aortic valve replacement or TAVR); (ii) 12-month cardiovascular mortality; (iii) 12-month new major cardiovascular events such as myocardial infarction, stroke, vascular complications, and rehospitalization for heart failure; and (iv) composite endpoint of cardiovascular mortality and hospitalization for heart failure. Data collection will take place through a web platform (REDCap), absolutely secure based on current standards concerning the ethical requirements and data integrity.

16.
J Cardiovasc Echogr ; 30(1): 2-4, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32766099

RESUMEN

The epidemic of COVID-19 has grown to pandemic proportions and the preventive and mitigation measures have been widely spread through the media. The cardiologists are called as consultants for the cardiovascular pathologies and echocardiography is a fundamental examination in many clinical situations, but not without risks for health staff. Società Italiana di Ecocardiografia e CardioVascular Imaging Council has decided to formulate a document aimed to highlight the importance of a correct indication and execution procedure of the echocardiogram during a COVID-19 pandemic.

17.
J Cardiovasc Echogr ; 30(Suppl 1): S1-S3, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32566459
18.
J Cardiovasc Echogr ; 30(Suppl 1): S26-S32, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32566463

RESUMEN

Valvular heart diseases (VHD) may be observed in patients with cancer for several reasons, including preexisting valve lesions, radiotherapy, infective endocarditis, and secondary to the left ventricle dysfunction. The incidence of VHD is especially in younger survivors treated with thoracic radiation therapy for certain malignancies, such as Hodgkin's lymphoma and breast cancer. The mechanism of radiation-induced damage to heart valves is not clear and includes diffuse fibrocalcific thickening of the valve. VHD is commonly diagnosed after a long latent period, in the context of clinical symptoms, or suspected on the basis of a new murmur. The evaluation includes identification of anatomical valve abnormalities, valve dysfunction, and assessing the functional consequences of valve dysfunction on the ventricles. Echocardiography is the optimal imaging technique for diagnostic and therapeutic management. Cardiovascular magnetic resonance and computed tomography (CT) may be used to assess the severity of VHD, but cardiac CT is mainly useful for detecting extensive calcifications of the ascending aorta. Patients exposed to mediastinal radiotherapy and minimal valve dysfunction require follow-up of 2-3 years, with moderate valve disease yearly, with severe, should be assessed for valve surgery.

19.
J Cardiovasc Echogr ; 30(Suppl 1): S38-S44, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32566465

RESUMEN

Venous thromboembolism (VTE) represents a major health problem, especially in cancer patients, who experience a significantly higher incidence of both deep vein thrombosis and pulmonary embolism compared to the general population. Indeed, patients with cancer have a prothrombotic state resulting in both increased expression of procoagulants and suppression of fibrinolytic activity. In addition, VTE increases the morbidity and mortality of these patients. For all these reasons, the prevention and treatment of VTE in cancer setting represent major challenges in daily practice. In general, low-molecular-weight heparin monotherapy is the standard of care for the management of cancer-associated VTE, as Vitamin K antagonists are less effective in this setting. Direct oral anticoagulants offer a potentially promising treatment option for cancer patients with VTE, since recent studies demonstrated their efficacy and safety also in this peculiar setting.

20.
J Cardiovasc Echogr ; 30(Suppl 1): S45-S53, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32566466

RESUMEN

Cardiac tumors (CTs) are extremely rare, with an incidence of approximately 0.02% in autopsy series. Primary tumors of the heart are far less common than metastatic tumors. CTs usually present with any possible clinical combination of heart failure, arrhythmias, or embolism. Echocardiography remains the first diagnostic approach when suspecting a CT which, on the other side, frequently appears unexpectedly during an echocardiographic examination. Yet, cardiac tomography and especially magnetic resonance imaging may offer several adjunctive opportunities in the diagnosis of CTs. Early and exact diagnosis is crucial for the following therapy and outcome of CTs.

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