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1.
Biomedicines ; 12(5)2024 May 10.
Article in English | MEDLINE | ID: mdl-38791022

ABSTRACT

Darier disease (DD) is an autosomal dominant disorder due to pathogenic variants of the ATP2A2 gene that causes an isolated skin manifestation based on keratinocyte disconnection and apoptosis. Systemic manifestations of DD have not been demonstrated so far, although a high incidence of neuropsychiatric syndromes suggests an involvement of the central nervous system. We report that the pathogenic ATP2A2 gene variant c.118G>A may cause cardiac involvement in patients with DD, consisting of keratinocyte and cardiomyocyte disconnection. Their common pathologic pathway, still unreported, was documented by both skin and left ventricular endomyocardial biopsies because cardiac dilatation and dysfunction appeared several decades after skin manifestations. Keratinocyte disconnection was paralleled by cardiomyocyte separation at the lateral junction. Cardiomyocyte separation was associated with cell disarray, sarcoplasmic reticulum dilatation, and increased myocyte apoptosis. Clinically, hyperkeratotic skin papules are associated with chest pain, severe muscle exhaustion, and ventricular arrhythmias that improved following administration of aminophylline, a phosphodiesterase inhibitor enhancing SERCA2 protein phosphorylation. Cardiac pathologic changes are similar to those documented in the skin, including cardiomyocyte disconnection that promotes precordial pain and cardiac arrhythmias. Phosphodiesterase inhibitors that enhance SERCA2 protein phosphorylation may substantially attenuate the symptoms.

2.
Eur Heart J Suppl ; 26(Suppl 2): ii264-ii293, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38784671

ABSTRACT

It has been well assessed that women have been widely under-represented in cardiovascular clinical trials. Moreover, a significant discrepancy in pharmacological and interventional strategies has been reported. Therefore, poor outcomes and more significant mortality have been shown in many diseases. Pharmacokinetic and pharmacodynamic differences in drug metabolism have also been described so that effectiveness could be different according to sex. However, awareness about the gender gap remains too scarce. Consequently, gender-specific guidelines are lacking, and the need for a sex-specific approach has become more evident in the last few years. This paper aims to evaluate different therapeutic approaches to managing the most common women's diseases.

3.
Drug Des Devel Ther ; 18: 1083-1101, 2024.
Article in English | MEDLINE | ID: mdl-38585254

ABSTRACT

The clinical use of agalsidase alfa as enzyme replacement therapy (ERT) for Fabry disease (FD) has spread since 2001, and a large body of evidence of its effectiveness has been collected. This review presents the clinical and laboratory results achieved with agalsidase alfa, which has been published in the literature. Agalsidase alfa infusion slows down or stops the progression of renal damage, expressed by reduction or stabilization of the annual decline of the glomerular filtration rate; yearly decrease of glomerular filtration rate (slope) sometimes is reduced until its stabilization. ERT prevents or reduces the occurrence of hypertrophic cardiomyopathy or slows the increase over time if it is already present. Moreover, regarding neurological manifestations, ERT improves neuropathic pain and quality of life, and recent data indicated that it may also prevent the burden of cerebrovascular disease. In addition to ERT's clinical benefits, crucial topics like the most appropriate time to start therapy and the role of anti-drug antibodies (ADA) are analyzed. Treatment with agalsidase alfa in patients with FD substantially improves their outcomes and enhances their quality of life in patients with FD.


Subject(s)
Fabry Disease , Isoenzymes , Humans , Fabry Disease/drug therapy , Enzyme Replacement Therapy/methods , Quality of Life , Treatment Outcome , alpha-Galactosidase/therapeutic use , Antibodies , Recombinant Proteins/therapeutic use
4.
J Clin Med ; 13(5)2024 Mar 03.
Article in English | MEDLINE | ID: mdl-38592704

ABSTRACT

Background: The probability of spontaneous conversion (SCV) to sinus rhythm (SR) in patients presenting to the emergency department (ED) with hemodynamically stable, symptomatic atrial fibrillation (AF) is not well known. Objective: To develop and validate a score to determine the probability of SCV to SR in patients presenting to the ED with hemodynamically stable, symptomatic AF. Methods: This retrospective, observational study enrolled consecutive patients admitted with AF to the ED. Variables associated to SCV during a 6 h "wait-and-see" approach were used to develop and validate a score to determine the probability of SCV to SR in AF patients. The study was divided in two phases: (1) score development and (2) validation of the predictive score. Results: Out of 748 eligible patients, 446 patients were included in the derivation cohort, whereas 302 patients were included in the validation cohort. In the derivation cohort, based on multivariable logistic analysis, a probability score weight was developed including: previous SCV (3 points), AF-related symptom duration < 24 h (5 points), age ≥ 65 years (3 points) and female sex (2 points). The score allowed us to divide patients in three groups based on the probability of SCV to SR during the 6 h observation period. The probability prediction model showed an area under the curve (AUC) of 0.707 and 0.701 in the derivation and validation cohorts, respectively. Conclusions: The proposed score allowed us to predict SCV probability with good accuracy and may help physicians in tailoring AF management in an effective and timely manner.

5.
J Am Heart Assoc ; 13(8): e032734, 2024 Apr 16.
Article in English | MEDLINE | ID: mdl-38563373

ABSTRACT

BACKGROUND: The limited ability of enzyme replacement therapy (ERT) in removing globotriaosylceramide from cardiomyocytes is recognized for advanced Fabry disease cardiomyopathy (FDCM). Prehypertrophic FDCM is believed to be cured or stabilized by ERT. However, no pathologic confirmation is available. We report here on the long-term clinical-pathologic impact of ERT on prehypertrophic FDCM. METHODS AND RESULTS: Fifteen patients with Fabry disease with left ventricular maximal wall thickness ≤10.5 mm at cardiac magnetic resonance required endomyocardial biopsy because of angina and ventricular arrhythmias. Endomyocardial biopsy showed coronary small-vessel disease in the angina cohort, and vacuoles in smooth muscle cells and cardiomyocytes ≈20% of the cell surface containing myelin bodies at electron microscopy. Patients received α-agalsidase in 8 cases, and ß-agalsidase in 7 cases. Both groups experienced symptom improvement except 1 patients treated with α-agalsidase and 1 treated with ß-agalsidase. After ERT administration ranging from 4 to 20 years, all patients had control cardiac magnetic resonance and left ventricular endomyocardial biopsy because of persistence of symptoms or patient inquiry on disease resolution. In 13 asymptomatic patients with FDCM, left ventricular maximal wall thickness and left ventricular mass, cardiomyocyte diameter, vacuole surface/cell surface ratio, and vessels remained unchanged or minimally increased (left ventricular mass increased by <2%) even after 20 years of observation, and storage material was still present at electron microscopy. In 2 symptomatic patients, FDCM progressed, with larger and more engulfed by globotriaosylceramide myocytes being associated with myocardial virus-negative lymphocytic inflammation. CONCLUSIONS: ERT stabilizes storage deposits and myocyte dimensions in 87% of patients with prehypertrophic FDCM. Globotriaosylceramide is never completely removed even after long-term treatment. Immune-mediated myocardial inflammation can overlap, limiting ERT activity.


Subject(s)
Cardiomyopathies , Fabry Disease , Heart Diseases , Myocarditis , Trihexosylceramides , Humans , Fabry Disease/complications , Fabry Disease/drug therapy , Fabry Disease/pathology , alpha-Galactosidase/therapeutic use , alpha-Galactosidase/metabolism , Enzyme Replacement Therapy/methods , Cardiomyopathies/etiology , Cardiomyopathies/complications , Myocytes, Cardiac/metabolism , Myocarditis/chemically induced , Angina Pectoris/complications , Heart Diseases/complications , Inflammation/metabolism
6.
J Clin Med ; 13(6)2024 Mar 18.
Article in English | MEDLINE | ID: mdl-38541971

ABSTRACT

Ventricular tachycardias (VTs) and electrical storms (ES) are life-threatening conditions mostly seen in the setting of structural heart disease (SHD). Traditional management strategies, predominantly centered around pharmacological interventions with antiarrhythmic drugs, have demonstrated limited efficacy in these cases, whereas catheter ablation is related with more favorable outcomes. However, patients with hemodynamically unstable, recurrent VT or ES may present cardiogenic shock (CS) that precludes the procedure, and catheter ablation in patients with SHD portends a multifactorial intrinsic risk of acute hemodynamic decompensation (AHD), that is associated with increased mortality. In this setting, the use of mechanical circulatory support (MCS) systems allow the maintenance of end-organ perfusion and cardiac output, improving coronary flow and myocardial mechanics, and minimizing the effect of cardiac stunning after multiple VT inductions or cardioversion. Although ablation success and VT recurrence are not influenced by hemodynamic support devices, MCS promotes diuresis and reduces the incidence of post-procedural kidney injury. In addition, MCS has a role in post-procedural mortality reduction at long-term follow-up. The current review aims to provide a deep overview of the rationale and modality of MCS in patients with refractory arrhythmias and/or undergoing VT catheter ablation, underlining the importance of patient selection and timing for MCS and summarizing reported clinical experiences in this field.

7.
Diagnostics (Basel) ; 14(2)2024 Jan 18.
Article in English | MEDLINE | ID: mdl-38248084

ABSTRACT

Anderson-Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A). This mutation results in a deficiency or absence of α-GAL A activity, with a progressive intracellular deposition of glycosphingolipids leading to organ dysfunction and failure. Cardiac damage starts early in life, often occurring sub-clinically before overt cardiac symptoms. Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD. Even in consideration of pleiotropic manifestation, diagnosis is often challenging. Thus, knowledge of cardiac and extracardiac diagnostic "red flags" is needed to guide a timely diagnosis. Indeed, considering its systemic involvement, a multidisciplinary approach may be helpful in discerning AFD-related cardiac disease. Beyond clinical pearls, a practical approach to assist clinicians in diagnosing AFD includes optimal management of biochemical tests, genetic tests, and cardiac biopsy. We extensively reviewed the current literature on AFD cardiomyopathy, focusing on cardiac "red flags" that may represent key diagnostic tools to establish a timely diagnosis. Furthermore, clinical findings to identify patients at higher risk of sudden death are also highlighted.

8.
G Ital Cardiol (Rome) ; 25(2): 126-139, 2024 Feb.
Article in Italian | MEDLINE | ID: mdl-38270370

ABSTRACT

It is well established that gender strongly influences cardiovascular risk factors, playing a crucial role in cardiovascular prevention, clinical pathways, diagnostic approach and treatment. Beyond the sex, which is a biological factor, gender entails a socio-cultural condition that impacts access and quality of care due to structural and institutional barriers. However, despite its great importance, this issue has not been adequately covered. Indeed sex and gender differences scarcely impact the clinical approach, creating a lot of disparities in care and outcomes of patients. Therefore, it becomes essential to increase the awareness of the importance of sex and gender influences on cardiovascular diseases. Moreover, new strategies for reducing disparities should be developed. Importantly, these differences should be taken into account in guideline recommendations. In this regard, it is crucial to include a greater number of women in clinical trials, since they are currently underrepresented. Furthermore, more women should be involved as member of international boards in order to develop recommendations and guidelines with more attention to this important topic.The aim of this ANMCO position paper is to shed light on gender differences concerning many cardiovascular drugs in order to encourage a more personalized therapeutic approach.


Subject(s)
Cardiovascular Agents , Cardiovascular Diseases , Male , Humans , Female , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/prevention & control , Critical Pathways , Heart Disease Risk Factors
9.
Medicina (Kaunas) ; 60(1)2024 Jan 03.
Article in English | MEDLINE | ID: mdl-38256355

ABSTRACT

Pediatric cardiomyopathies (CMs) and electrical diseases constitute a heterogeneous spectrum of disorders distinguished by structural and electrical abnormalities in the heart muscle, attributed to a genetic variant. They rank among the main causes of morbidity and mortality in the pediatric population, with an annual incidence of 1.1-1.5 per 100,000 in children under the age of 18. The most common conditions are dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Despite great enthusiasm for research in this field, studies in this population are still limited, and the management and treatment often follow adult recommendations, which have significantly more data on treatment benefits. Although adult and pediatric cardiac diseases share similar morphological and clinical manifestations, their outcomes significantly differ. This review summarizes the latest evidence on genetics, clinical characteristics, management, and updated outcomes of primary pediatric CMs and electrical diseases, including DCM, HCM, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT syndrome (LQTS), and short QT syndrome (SQTS).


Subject(s)
Cardiomyopathy, Dilated , Cardiomyopathy, Hypertrophic , Heart Diseases , Long QT Syndrome , Adult , Child , Humans , Arrhythmias, Cardiac/epidemiology , Arrhythmias, Cardiac/genetics , Heart , Cardiomyopathy, Dilated/epidemiology , Cardiomyopathy, Dilated/genetics
10.
G Ital Cardiol (Rome) ; 24(11): 866-871, 2023 Nov.
Article in Italian | MEDLINE | ID: mdl-37901977

ABSTRACT

Left ventricular non compaction (LVNC) comprises a heterogeneous group of diseases that can cause heart failure, arrhythmias, and thromboembolic events. In particular, the prevalence of thromboembolism in patients with LVNC is relevant compared to the general population. Atrial fibrillation and left ventricular thrombosis are strong predictors and require anticoagulant treatment in primary or secondary prevention, with a significant reduction in the risk of events. Long-term oral anticoagulation can be considered in patients with LVNC associated with left ventricular systolic dysfunction and sinus rhythm. On the contrary, it is not entirely clear whether the presence of deep intertrabecular recesses that cause blood flow stagnation can itself represent a thrombogenic substrate even in the absence of ventricular dysfunction and in sinus rhythm, thus indicating the use of anticoagulation.This article addresses the open question of the indication for anticoagulant therapy in LVNC, through a review of the current evidence on thromboembolic risk stratification and the initiation of anticoagulant therapy and by proposing a flow-chart as a guide to decision-making according to the clinical picture of the patient.


Subject(s)
Atrial Fibrillation , Heart Failure , Thromboembolism , Ventricular Dysfunction, Left , Humans , Anticoagulants/therapeutic use , Ventricular Dysfunction, Left/complications , Ventricular Dysfunction, Left/drug therapy , Atrial Fibrillation/complications , Atrial Fibrillation/drug therapy , Heart Ventricles , Thromboembolism/etiology , Thromboembolism/prevention & control
11.
G Ital Cardiol (Rome) ; 24(9): 754-765, 2023 09.
Article in Italian | MEDLINE | ID: mdl-37642128

ABSTRACT

Nowadays, a progressive and exponential increase in the use of invasive and non-invasive instrumental diagnostics and therapeutic services has been shown. Although unnecessary, instrumental examinations are often largely prescribed, replacing clinical evaluation. Their correct use, on the contrary, would address precise epidemiological and clinical contexts. Therefore identifying whether a test or procedure is appropriate or not plays a crucial role in clinical practice. Several documents from scientific societies and expert groups indicate the most appropriate cardiovascular diagnostic and therapeutic procedures. The international Choosing Wisely campaign invited the main scientific societies to identify five techniques or treatments used in their field that are often unnecessary and may potentially damage patients. The Italian Association of Hospital Cardiologists (ANMCO) joined the project identifying the five cardiological practices in our country at greater risk of inappropriateness in 2014. This list has recently been updated. Moreover, possible solutions to this problem have been proposed.


Subject(s)
Cardiologists , Cardiology , Humans , Hospitals
12.
J Cardiovasc Electrophysiol ; 34(8): 1781-1784, 2023 08.
Article in English | MEDLINE | ID: mdl-37493490

ABSTRACT

INTRODUCTION: Cardiac involvement is common and may become clinically relevant in approximately 5%-10% of patients with systemic sarcoidosis. Although reduced left ventricular ejection fraction is a recognized predictor of mortality, recent studies have suggested an increased risk of ventricular arrhythmia (VAs) and sudden cardiac death (SCD) in patients with cardiac sarcoidosis (CS) and evidence of late gadolinium enhancement-cardiac magnetic resonance (LGE-CMR), irrespective of the underlying left ventricular systolic function. We performed a meta-analysis to assess the correlation between VAs/SCD and presence of LGE-CMR in CS patients. METHODS: We systematically searched Medline, Embase, and Cochrane electronic databases up to January 2, 2023, for studies enrolling patients with suspected or confirmed CS undergoing LGE-CMR. Clinical outcomes of interest included clinically relevant VAs, defined as sustained ventricular tachycardia, ventricular fibrillation, SCD, or aborted SCD during follow-up. The effect size was estimated using a random-effect model as risk ratio (RR) and relative 95% confidence interval (CI). RESULTS: A total of 14 studies fulfilled the selection criteria and were included in the final analysis. Among 1273 patients, LGE was detected in 465 (36.5%; Group LGE+). Males accounted for 45.2% (95% CI: 40.5%-55.7%) of the total population and the average age was 56.8 (95% CI: 52.7%-60.9) years. A total of 104 (22.3%) of 465 LGE+ patients experienced a clinically relevant VA, compared to 6 (0.7%) of 808 LGE- ones. LGE+ was associated with a ninefold increased risk in life-threatening VAs (22.3% vs. 0.7%; RR = 9.52; 95% CI [5.18-17.49]; p < .0001) compared to patients without LGE (heterogeneity I2 = 0%). CONCLUSION: In our meta-analysis, LGE+ in patients with CS was associated with a ninefold increased risk in life-threatening VAs compared to patients without LGE.


Subject(s)
Myocarditis , Sarcoidosis , Humans , Male , Middle Aged , Arrhythmias, Cardiac/etiology , Arrhythmias, Cardiac/complications , Contrast Media , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/epidemiology , Gadolinium , Magnetic Resonance Imaging, Cine , Magnetic Resonance Spectroscopy/adverse effects , Myocarditis/complications , Prognosis , Risk Assessment , Risk Factors , Sarcoidosis/complications , Sarcoidosis/diagnostic imaging , Stroke Volume , Ventricular Function, Left
13.
Curr Cardiol Rep ; 25(7): 641-648, 2023 07.
Article in English | MEDLINE | ID: mdl-37269474

ABSTRACT

PURPOSE OF REVIEW: Myocarditis is an inflammation of the myocardium secondary to a variety of agents such as infectious pathogens, toxins, drugs, and autoimmune disorders. In our review, we provide an overview of miRNA biogenesis and their role in the etiology and pathogenesis of myocarditis, evaluating future directions for myocarditis management. RECENT FINDINGS: Advances in genetic manipulation techniques allowed to demonstrate the important role of RNA fragments, especially microRNAs (miRNAs), in cardiovascular pathogenesis. miRNAs are small non-coding RNA molecules that regulate the post-transcriptional gene expression. Advances in molecular techniques allowed to identify miRNA's role in pathogenesis of myocarditis. miRNAs are related to viral infection, inflammation, fibrosis, and apoptosis of cardiomyocytes, making them not only promising diagnostic markers but also prognostics and therapeutic targets in myocarditis. Of course, further real-world studies will be needed to assess the diagnostic accuracy and applicability of miRNA in the myocarditis diagnosis.


Subject(s)
MicroRNAs , Myocarditis , Humans , MicroRNAs/genetics , MicroRNAs/metabolism , Myocarditis/diagnosis , Myocarditis/genetics , Myocardium/pathology , Myocytes, Cardiac/pathology , Inflammation
14.
Curr Neuropharmacol ; 21(12): 2543-2549, 2023.
Article in English | MEDLINE | ID: mdl-37357518

ABSTRACT

BACKGROUND: Variant transthyretin-mediated amyloidosis (ATTR-v) is a well-characterized disease affecting the neurologic and cardiovascular systems. Patisiran has been approved for neurologic involvement as it reduces hepatic synthesis of transthyretin (TTR). Eye involvement is a lateonset feature increasing the risk of glaucoma and cataracts in patients. AIMS: The aim of this case series was to assess whether patisiran can effectively reduce TTR synthesis in such a barrier-protected organ as the eye. METHODS: Two patisiran-treated ATTR-v patients underwent serum and aqueous humor sampling to measure TTR levels detected by SDS-PAGE and immunoblotting. Serum samples were compared to healthy control (HC), whereas aqueous humor samples were compared to non-amyloidotic subjects affected by cataracts and glaucoma. RESULTS: Serum TTR levels representative of hepatic synthesis were sharply lower in treated patients if compared to the HC (-87.5% and -93.75%, respectively). Aqueous humor TTR levels showed mild-tono reduction in treated patients compared to non-amyloidotic subjects with cataracts (-34.9% and +8.1%, respectively) and glaucoma (-41.1% and -2.1%). CONCLUSION: Patisiran does not seem to be as effective in inhibiting ocular TTR synthesis as it is in inhibiting hepatic synthesis. Re-engineering the envelope could allow the drug to target RPE cells thus avoiding any ocular involvement.


Subject(s)
Cataract , Glaucoma , Humans , Prealbumin , Pilot Projects , Cataract/drug therapy , Glaucoma/drug therapy
15.
Eur Heart J Suppl ; 25(Suppl D): D294-D311, 2023 May.
Article in English | MEDLINE | ID: mdl-37213799

ABSTRACT

Extended risk stratification and optimal management of patients with a permanently increased risk of sudden cardiac death (SCD) are becoming increasingly important. There are several clinical conditions where the risk of arrhythmic death is present albeit only transient. As an example, patients with depressed left ventricular function have a high risk of SCD that may be only transient if there will be a significant recovery of function. It is important to protect the patients while receiving and titrating to the optimal dose the recommended drugs that may lead to an improved left ventricular function. In several other conditions, a transient risk of SCD can be observed even if the left ventricular function is not compromised. Examples are patients with acute myocarditis, during the diagnostic work-up of some arrhythmic conditions or after extraction of infected catheters while eradicating the associated infection. In all these conditions, it is important to offer a protection to these patients. The wearable cardioverter defibrillator (WCD) is of particular importance as a temporary non-invasive technology for both arrhythmia monitoring and therapy in patients with increased risk of SCD. Previous studies have shown the WCD to be an effective and safe therapy for the prevention of SCD caused by ventricular tachycardia/fibrillation. The aim of this ANMCO position paper is to provide a recommendation for clinical utilization of the WCD in Italy, based upon current data and international guidelines. In this document, we will review the WCD functionality, indications, clinical evidence, and guideline recommendations. Finally, a recommendation for the utilization of the WCD in routine clinical practice will be presented, in order to provide physicians with a practical guidance for SCD risk stratification in patients who may benefit from this device.

16.
Int J Mol Sci ; 24(9)2023 Apr 27.
Article in English | MEDLINE | ID: mdl-37175633

ABSTRACT

Genetic susceptibility may influence ischemic heart disease (IHD) predisposition and affect coronary blood flow (CBF) regulation mechanisms. The aim of this study was to investigate the association among single nucleotide polymorphisms (SNPs) of genes encoding for proteins involved in CBF regulation and IHD. A total of 468 consecutive patients were enrolled and divided into three groups according to coronary angiography and intracoronary functional tests results: G1, patients with coronary artery disease (CAD); G2, patients with coronary microvascular dysfunction (CMD); and G3, patients with angiographic and functionally normal coronary arteries. A genetic analysis of the SNPs rs5215 of the potassium inwardly rectifying channel subfamily J member 11 (KCNJ11) gene and rs1799983 of the nitric oxide synthase 3 (NOS3) gene, respectively encoding for the Kir6.2 subunit of ATP sensitive potassium (KATP) channels and nitric oxide synthase (eNOS), was performed on peripheral whole blood samples. A significant association of rs5215_G/G of KCNJ11 and rs1799983_T/T of NOS3 genes was detected in healthy controls compared with CAD and CMD patients. Based on univariable and multivariable analyses, the co-presence of rs5215_G/G of KCNJ11 and rs1799983_T/T of NOS3 may represent an independent protective factor against IHD, regardless of cardiovascular risk factors. This study supports the hypothesis that SNP association may influence the crosstalk between eNOS and the KATP channel that provides a potential protective effect against IHD.


Subject(s)
Coronary Artery Disease , Myocardial Ischemia , Humans , Adenosine Triphosphate , Coronary Artery Disease/genetics , Genetic Predisposition to Disease , Myocardial Ischemia/genetics , Nitric Oxide Synthase/genetics , Nitric Oxide Synthase Type III/genetics , Nitric Oxide Synthase Type III/metabolism , Polymorphism, Single Nucleotide
17.
G Ital Cardiol (Rome) ; 24(5): 394-411, 2023 May.
Article in Italian | MEDLINE | ID: mdl-37102354

ABSTRACT

Extended risk stratification and optimal management of patients with a permanently increased risk of sudden cardiac death (SCD) is becoming increasingly important. There are several clinical conditions where the risk of arrhythmic death is present albeit only transient. As an example, patients with depressed left ventricular function have a high risk of SCD that may be only transient when there is a significant recovery of function. It is important to protect the patients while receiving the recommended measures and drugs that may either lead or not to an improved left ventricular function. In several other conditions a transient risk of SCD can be observed even if the left ventricular function is not compromised. Examples are patients with acute myocarditis, during the diagnostic work-up of some arrhythmic conditions or after extraction of infected catheters while eradicating the associated infection. In all these conditions it is important to offer a protection to these patients. The wearable cardioverter-defibrillator (WCD) is of particular importance as a temporary non-invasive technology for both arrhythmia monitoring and therapy in patients with increased risk of SCD. Previous studies have shown the WCD to be an effective and safe therapy for the prevention of SCD caused by ventricular tachycardia/fibrillation. The aim of this ANMCO position paper is to provide a recommendation for clinical utilization of the WCD in Italy, based upon current data and international guidelines. In this document we will review the WCD functionality, indications, clinical evidence as well as guideline recommendations. Finally, a recommendation for the utilization of the WCD in routine clinical practice will be presented, in order to provide physicians with a practical guidance for SCD risk stratification in patients who may benefit from this device.


Subject(s)
Defibrillators, Implantable , Wearable Electronic Devices , Humans , Defibrillators , Electric Countershock , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Arrhythmias, Cardiac
18.
J Clin Med ; 12(5)2023 Feb 23.
Article in English | MEDLINE | ID: mdl-36902585

ABSTRACT

BACKGROUND: The pathology of conduction tissue (CT) and relative arrhythmias in living subjects with cardiac amyloid have never been reported. AIMS: To report CT pathology and its arrhythmic correlations in human cardiac amyloidosis. METHODS AND RESULTS: In 17 out of 45 cardiac amyloid patients, a left ventricular endomyocardial biopsy included conduction tissue sections. It was identified by Aschoff-Monckeberg histologic criteria and positive immunostaining for HCN4. The degree of conduction tissue infiltration was defined as mild when ≤30%, moderate when 30-70% and severe when >70% cell area was replaced. Conduction tissue infiltration was correlated with ventricular arrhythmias, maximal wall thickness and type of amyloid protein. Mild involvement was observed in five cases, moderate in three and severe in nine. Involvement was associated with a parallel infiltration of conduction tissue artery. Conduction infiltration correlated with the severity of arrhythmias (Spearman rho = 0.8, p < 0.001). In particular, major ventricular tachyarrhythmias requiring pharmacologic treatment or ICD implantation occurred in seven patients with severe, one patient with moderate and none with mild conduction tissue infiltration. Pacemaker implantation was required in three patients, with complete conduction section replacement. No significant correlation was observed between the degree of conduction infiltration and age, cardiac wall thickness or type of amyloid protein. CONCLUSIONS: Amyloid-associated cardiac arrhythmias correlate with the extent of conduction tissue infiltration. Its involvement is independent from type and severity of amyloidosis, suggesting a variable affinity of amyloid protein to conduction tissue.

19.
Int J Cardiovasc Imaging ; 39(5): 1031-1043, 2023 May.
Article in English | MEDLINE | ID: mdl-36913155

ABSTRACT

To evaluate clinical and cardiac magnetic resonance (CMR) short-term follow-up (FU) in patients with vaccine-associated myocarditis, pericarditis or myo-pericarditis (VAMP) following COVID-19 vaccination. We retrospectively analyzed 44 patients (2 women, mean age: 31.7 ± 15.1 years) with clinical and CMR manifestations of VAMP, recruited from 13 large tertiary national centers. Inclusion criteria were troponin raise, interval between the last vaccination dose and onset of symptoms < 25 days and symptoms-to-CMR < 20 days. 29/44 patients underwent a short-term FU-CMR with a median time of 3.3 months. Ventricular volumes and CMR findings of cardiac injury were collected in all exams. Mean interval between the last vaccination dose and the onset of symptoms was 6.2 ± 5.6 days. 30/44 patients received a vaccination with Comirnaty, 12/44 with Spikevax, 1/44 with Vaxzevria and 1/44 with Janssen (18 after the first dose of vaccine, 20 after the second and 6 after the "booster" dose). Chest pain was the most frequent symptom (41/44), followed by fever (29/44), myalgia (17/44), dyspnea (13/44) and palpitations (11/44). At baseline, left ventricular ejection fraction (LV-EF) was reduced in 7 patients; wall motion abnormalities have been detected in 10. Myocardial edema was found in 35 (79.5%) and LGE in 40 (90.9%) patients. Clinical FU revealed symptoms persistence in 8/44 patients. At FU-CMR, LV-EF was reduced only in 2 patients, myocardial edema was present in 8/29 patients and LGE in 26/29. VAMPs appear to have a mild clinical presentation, with self-limiting course and resolution of CMR signs of active inflammation at short-term follow-up in most of the cases.


Subject(s)
COVID-19 , Myocarditis , Pericarditis , Humans , Female , Adolescent , Young Adult , Adult , Middle Aged , Myocarditis/etiology , Myocarditis/complications , COVID-19 Vaccines/adverse effects , Stroke Volume , Retrospective Studies , Ventricular Function, Left , Magnetic Resonance Imaging, Cine , COVID-19/complications , Predictive Value of Tests , Magnetic Resonance Imaging , Pericarditis/etiology , Pericarditis/complications
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