Aims Hypertrophic Cardiomyopathies (HCM) are caused in 30-60% by mutations in cardiac sarcomere genes, but can also be an expression of cardiac involvement in multisystemic 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. 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. 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, analyzed systolic and diastolic function, LV-GLS and MD. We also analyzed ventricular arrhythmias (V-AR), including ventricular fibrillation and sustained/non-sustained ventricular tachycardia, by Holter-EKG, in a subset of hypertrophic patients. Data were analyzed 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 to patients without V-AR (median - 10.2% versus -14%, P = 0.038), MD was significantly higher in the V-AR group (85.5 ms versus 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 Hypertrophic Cardiomyopathies, and may be a promising prognostic predictor of increased arrhythmic risk.

(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.

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.

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.

We exhibit the case of a 75 years-old man who undertook cardio-oncological assessment for Non-Hodgkin Lymphoma: baseline echo revealed typical features of lipomatous hypertrophy of the interatrial septum (LHIS) and an apical hypoechoic left ventricle (LV) lesion. Five years before, the patient performed MRI (Magnetic Resonance Imaging), which confirmed LHIS, but superabundant epicardial fat extended to the right ventricle and the apical junction between the two ventricles, both characterized by normal ejection fraction, and surrounded the origin of the pulmonary trunk. LV lateral and inferior walls presented lipomatous metaplasia foci and no history or ECG sign of previous myocardial injury could be pointed out. A slight band of late gadolinium enhancement at the basal infero-lateral wall of LV was highlighted. The patient referred episodes of fainting: the Holter-ECG showed pronounced bradycardia which couldn't be explained by other secondary causes. So a bicameral pace-maker was implanted. During our ambulatory evaluation, we decided to repeat MRI, which showed no difference in comparison with the previous one, so excluding malignant degeneration of the fatty mass surrounding the heart. Despite older age and the lack of sudden cardiac death family history we searched for pathognomonic arrhythmogenic cardiomyopathy (ACM) mutations. In consideration of the new evidence of the metabolic risk associated with abundant epicardial fat (EF) we asked for updated laboratory dosage of plasma glucose, LDL cholesterol and triglycerides and we recommended stricter control of blood pressure. From 4% to 52% of cardiac mass is made up of fat but only EF interacts with myocardium and coronary arteries. Anomalous growth of fat in the heart can present itself as LHIS, excessive lipomatous infiltration or cardiac lipomas (real capsulated tumors) but also ACM is histologically characterized by fibrofatty replacement of cardiomyocites. Overabundant and inflammed EF is now considered a surrogate of metabolic risk and is associated with multivessel coronary disease, the finding of chronic total occlusions (CTO) and microvascular angina. Identifying fatty heart lesions and defining their clinical and prognostic role remains an intriguing challenge. We suggest a general binary way to follow: the “mechanic one” for lipomas or lipomatous infiltration, that is paying attention to compression phenomena or the generation of arrhythmias, and the “metabolic one”, in other words optimizing cardiovascular prevention when EF is too much. A careful research of imaging features of ACM can't be omitted.