Literatura académica sobre el tema "ATTR amyloidosys, Arrhythmia"

Abstract Aims Atrial fibrillation (AF) occurs in as many as 70% of patients with transthyretin cardiac amyloidosis (ATTR CA). The aim of our study was to investigate the impact of AF ablation on freedom from recurrent arrhythmia, hospitalization for AF or heart failure (HF), and mortality. Methods and results This was a retrospective observational cohort study of 72 patients with ATTR CA and AF, of whom 24 underwent AF ablation and were matched in a 2:1 manner based on age, gender, ATTR CA stage, New York Heart Association functional class, ejection fraction, and date of AF diagnosis with 48 patients with ATTR CA and AF undergoing medical management. During a mean follow-up of 39 ± 26 months, 10 (42%) patients remained free of recurrent arrhythmia following ablation. Ablation was significantly more effective in those with Stage I or II ATTR CA, with 9/14 (64%) patients with Stage I or II ATTR CA remaining free of recurrent arrhythmia compared to only 1/10 (10%) patients with Stage III disease (P = 0.005). Death occurred in 7 (29%) patients in the ablation group compared to 36 (75%) in the non-ablation arm (P = 0.01). Rates of ischaemic stroke were similar in both groups. Ablation was associated with a significant reduction in the frequency of hospitalization for HF/arrhythmia (1.7 ± 2.4 hospitalizations vs. 4 ± 3.5, P = 0.005). On Cox proportional hazards analyses, ablation was associated with improved survival (hazard ratio 0.38, 95% confidence intervals 0.17–0.86; P = 0.02). Conclusion Atrial fibrillation ablation is associated with reduced mortality in ATTR CA and is most effective when performed earlier during the disease process.

Cardiac amyloidosis wild type (ATTR-CAwt) is often the underdiagnosed cause of heart failure with preserved ejection fraction (HFpEF) and has a high mortality rate. There is usually a long delay between the appearance of clinical signs and the diagnosis of ATTR-CAwt but a short duration between diagnosis and death. ATTR-CAwt was associated with significant clinical arrhythmias. We report a case of ATTR-CAwt, the process of its diagnosis, and the associated clinical arrhythmias and their management. We also reviewed the literature of this underdiagnosed and potentially fatal condition and the current existing therapies.

Background: Transthyretin Amyloidosis (ATTR) is a common cause of both cardiomyopathy and carpal tunnel syndrome, with many patients needing carpal tunnel release (CTR). Although tafamidis is now an approved treatment of ATTR cardiomyopathy, insurers in most provinces require biopsy confirmation of amyloidosis. Endomyocardial biopsy is often the chosen approach due to optimal sensitivity, albeit with risk of serious adverse events such as stroke, cardiac tamponade, and arrhythmias. CTR may present an ideal opportunity for obtaining amyloidosis biopsy confirmation. Methods: ATTR patients undergoing CTR had biopsy of their transverse carpal ligament (TCL) and/or flexor tenosynovium to assess the sensitivity of both sites for biopsy confirmation of amyloidosis. Results: Twelve patients consecutively underwent biopsies during CTR, with 4 (33%) having bilateral CTR and biopsy. Among 16 TCL biopsies and 14 tenosynovium biopsies, 100% demonstrated amyloid deposition. Another patient had isolated tenosynovium biopsy without CTR and also demonstrated amyloidosis. There were no serious adverse events, and 1/13 (8%) had wound dehiscence requiring repeat suturing. Conclusions: Biopsy of the TCL and/or tenosynovium during CTR is safe, cost-effective, and sensitive, and may represent an alternative to endomyocardial biopsy in patients requiring tissue confirmation for tafamidis approval. ATTR patients eligible for tafamidis may benefit from early neurology assessment.

Abstract Background Cardiac amyloidosis involvement is associated with a detrimental outcome including frequent arrhythmias, heart failure, and conduction disturbances which may need permanent pacing. Cases summary We report two cases of patients with transthyretin amyloidosis (ATTR) who developed heart failure and depressed left ventricular ejection fraction (LVEF) following permanent right ventricular (RV) pacing but highly responded to cardiac resynchronization therapy (CRT). Discussion The impact of RV pacing and CRT in cardiac amyloidosis is not known. In our cases, the detrimental effect of permanent RV pacing on left ventricular (LV) systolic function and heart failure symptoms was suggested by both permanent RV pacing mediated functional and LV function decline and LV systolic dysfunction reversal following CRT along with QRS width reduction. Whether cardiac resynchronization should be readily recommended in ATTR patients who need ventricular pacing whatever the LVEF deserves further investigation.

Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is one of the most common types of cardiac amyloidosis. Amyloid cardiomyopathy more commonly affects men, elderly, and 3% to 4% of the African-American population. ATTR-CM suspicion and diagnosis is challenging; however, awareness of the disease is increasing, and best practices to identify it are being proposed. The approach to suspected cases of ATTR-CM relies on the presence of heart failure, red flag signs and symptoms, and age >65 or >70 for men and women respectively. Little is known about cases when it presents in early ages. Case: We report a 62-year-old African American male with past medical history of hyperlipidemia, prostate cancer, hypertension, bilateral carpal tunnel surgery that had debuted with a cardiac arrhythmia at age 55 and was diagnosed with heart failure several years later. Restrictive cardiomyopathy was suspected, and genetic screening was sent for ATTRm which confirmed a pathogenic trasnthyretin gene mutation. Endomyocardial biopsy was performed which confirmed cardiac amyloid deposition. Discussion: ATTR-CM is a rare disease with an increasing prevalence. Cases with out of proportion signs and symptoms of heart failure with preserved ejection fractions should raise the suspicion of ATTR-CM despite age.

Abstract Aims Cardiac amyloidosis (CA) is associated with increased mortality due to arrhythmias, heart failure, and electromechanical dissociation. However, the role of an implantable cardioverter-defibrillator (ICD) remains unclear. We conducted case-control study to assess survival in CA patients with and without a primary prevention ICD and compared outcomes to an age, sex, and device implant year-matched non-CA group with primary prevention ICD. Methods and results There were 91 subjects with CA [mean age= 71.2 ± 10.2, female 22.0%, 49 AL with Mayo Stage 2.9 ± 1.0, 41 transthyretin amyloidosis (ATTR), 1 other] followed by Vanderbilt Amyloidosis centre. Patients with ICD (n = 23) were compared with those without (n = 68) and a non-amyloid group with ICD (n = 46). All subjects with ICD had implantation for primary prevention. Mean left ventricular ejection fraction was 36.2% ± 14.4% in CA with ICD, 41.0% ± 10.6% in CA without ICD, and 33.5% ± 14.4% in non-CA patients. Over 3.5 ± 3.1 years, 6 (26.1%) CA, and 12 (26.1%) non-CA subjects received ICD therapies (P = 0.71). Patients with CA had a significantly higher mortality (43.9% vs. 17.4%, P = 0.002) compared with the non-CA group. Mean time from device implantation to death was 21.8 months in AL and 22.8 months in ATTR patients. There was no significant difference in mortality between CA patients who did and did not receive an ICD (39.0% vs. 46.0%, P = 0.59). Conclusions Despite comparable event rates patients with CA had a significantly higher mortality and ICDs were not associated with longer survival. With the emergence of effective therapy for AL amyloidosis, further study of ICD is needed in this group.

Abstract Cardiac amyloidosis (CA) manifests as infiltrative cardiomyopathy with a hypertrophic pattern, usually presenting with heart failure with preserved ejection fraction (HFpEF). In addition, degenerative valvular heart disease, particularly severe aortic stenosis, is commonly seen in patients with CA. However, amyloid fibril deposition may also infiltrate the conduction system and promote the development of electrical disorders, including ventricular tachyarrhythmias (VT), atrio-ventricular block, or acute electromechanical dissociation (EMD). These manifestations can increase the risk of sudden cardiac death (SCD). This review summarizes the pathophysiological mechanisms and risk factors for sudden cardiac death in cardiac amyloidosis and focuses on the major current concerns regarding medical and device management in this challenging scenario. Heart involvement is the major determinant of survival in patient with amyloidosis and a “sudden death” occurs in approximately two-thirds of patients with cardiac amyloidosis. Moreover, the AL amyloid fibrils are shown to be highly cytotoxic to the ventricular myocardial, explaining why ventricular arrhythmias appear more frequently in AL over ATTR. Proposed mechanisms driving electrophysiological manifestations of CA involve intramural coronaries, microvascular ischemia, or patchy myocardium infiltration of amyloid fibrils, causing the development of anatomical re-entrant circuits responsible for ventricular arrhythmia. The prevalence of non-sustained ventricular tachycardia (NSVT) in AL amyloidosis ranges from 5 to 27% with routine monitoring and 100% during the stem cell transplant period. The guidelines don't provide specific indications regarding insertion of implantabile cardioverter defibrillator (ICD) and they don't clarify whether some patients subtypes can benefit from them. Amyloid infiltration into the conduction system enhances the genesis of rhythm disturbances, including fatal ventricular arrhythmias and SCD. Current pharmacological anti-arrhythmic therapies are poorly tolerated in CA, and there are no robust recommendations on the management of ventricular arrhythmias in this subset of patients. Furthermore, the benefit of ICD implantation is highly variable according to the different clinical stages of the disease. Therefore, further studies are needed to create a standardized diagnostic algorithm and appropriate treatment strategy for this special population.

Abstract Cardiac amyloidosis (CA) is characterized by extracellular protein fibril deposition in the myocardium leading to restrictive heart failure. Both atrial and ventricular arrhythmias are common in CA. Study have shown up to one half of patients with CA die suddenly. However, the most common cause of sudden death has been historically through to be secondary electromechanical dissociation rather than a lethal ventricular arrhythmia. We present the case of a 84 years old man, with a history of hypertension, dyslipidaemia, and prior smoking. In June 2020 the patient was admitted to the emergency room of our hospital due to an episode of hemodynamically unstable sustained ventricular tachycardia (SVT). The patient underwent electrical cardioversion with restoration of sinus rhythm. An echocardiogram that showed a slightly reduced ejection fraction (FE = 45%), severe concentric hypertrophy, grade 3 diastolic dysfunction with high pressures in the left ventricular (LV) cavity, and a reduced GLS (-13.8%) with a typical apical-sparing aspect. A cardiac magnetic resonance (Fig.1). was performed showing a diffuse area of LGE with a subepicardial pattern involving left ventricular and atrial segments, compatible with myocardial storage disease. In order to complete the diagnostic workout, we performed a bone scintigraphy (Fig.2). (Positive for CA, with Perugini score grade 2), a genetic test (negative for hATTR-CA mutations) and free light chain in serum (negative for AL-CA). The patient was discharged at home after ICD implantation in secondary prevention and prescribed appropriate heart failure therapy. In May 2022 the patient was readmitted in emergency room for dyspnea during an arrhythmic storm characterized by several SVTs and ICD interventions, and atrial fibrillation (FA). After stabilization of clinical parameters, the patient was hospitalized in our ward. We optimized medical therapy with metaprololo 100 mg 1 cp BID, cordarone 600 mg ev and mexiletina 200 mg cp BID. During the hospitalization we succeeded in reducing SVT burden. However, ventricular PVCs and slow SVT remained. For this reason, we decided to perform an electrophysiological study (EPS) followed by catheter ablation. The EPS found two low voltage areas (Fig.3). The first were found under the aortic valve; the second was an area of dense scar and fragmented potentials along the basal-posterior wall. After ablation of the first area we succeeded in removing clinical PVCs. During the ablation of the second area the procedure was complicated by ventricular fibrillation that required advanced life support and many electrical shocks. The patient was discharged at home in absence of further episodes of SVTs with optimized therapy At a three moths follow up no arrhythmic events were recorded.

Abstract Introduction ATTR–related cardiac amyloidosis, caused by the accumulation of insoluble fibrillar proteins derived from transthyretin misfolding, is an often underdiagnosed pathology, especially when neurological involvement is absent or minor. Transthoracic echocardiography represents the first fundamental step in the diagnostic process. Abstract During the year 2021, a total of 9 patients with an echocardiographic feature of hypertrophic heart disease suggestive of infiltrative pathology were referred to our Cardiology unit. Of these patients, 89% were male (8 out of 9), aged between 60 and 88 years (average age of 72 years). The clinic presentation was heart failure in 5 cases (55% of the total), arrhythmic storm in 1 case, history of amyloid polyneuropathy in 1 case and it was an occasional finding in 2 patients who required a cardiological evaluation for other reasons. The 12–lead ECG documented atrial fibrillation arrhythmia in 4 out of 9 cases (44%) and sinus rhythm in the remaining 5 cases (56%). Transthoracic echocardiography revealed left ventricular hypertrophy with granular sparkling aspect of the SIV in all patients, with indexes of global systolic function preserved in 4 out of 9 cases (44%), moderately reduced in 3 out of 9 cases (33%) and severely reduced in the remaining 2 cases (22%). Diastolic dysfunction was present in all patients, with a restrictive pattern in 4 of 9 cases (44%). Myocardial scintigraphy with DPD was performed in 7 patients, which confirmed the suspicion of aTTR amyloidosis in 6 cases (Perugini Score = 2), in the remaining 2 patients the diagnostic procedure was not performed due to severe comorbidities. At present, diagnostic confirmation of aTTR amyloidosis has been confirmed by biopsy in 2 patients; a patient‘s biopsy is currently under analysis; 1 patient is on Patisiran therapy. Conclusions Cardiac amyloidosis represents a frequent clinical condition especially in the elderly population. In the light of the most recent therapeutic strategies, a correct and early etiopathogenetic diagnosis is of fundamental importance.

Introduction: Cardiac arrhythmias are frequent complications of patients with cardiac amyloidosis. The burden and nature of cardiac arrhythmias in patients with cardiac amyloidosis have not been investigated in a large patient population. Hypothesis: Cardiac amyloidosis is a highly arrhythmogenic disorder requiring implantation of cardiac electronic devices. Methods: Cedars-Sinai amyloidosis registry was analyzed to investigate the prevalence and nature of cardiac arrhythmias in patients with cardiac amyloidosis. Ambulatory ECG monitoring data, implantable cardioverter-defibrillator or pacemaker implantation, and interrogation data were reviewed to study the burden of cardiac arrhythmias in patients with cardiac amyloidosis. Results: A total of 156 patients were analyzed in the registry: 51 patients (32.7%) with AL amyloidosis, 101 patients (64.7%) with ATTR amyloidosis, and 4 patients with AA amyloidosis (2.6%). Thirty-seven patients (23.7%) were implanted with cardioverter-defibrillator; 23 patients (14.7%) for primary prevention, 11 patients (7.1%) for secondary prevention of ventricular tachycardia, and 3 patients (1.9%) for secondary prevention of ventricular fibrillation. Twenty-two patients (12.1%) needed pacemaker implantation; 9 patients (5.8%) for high-grade or complete heart block, and 13 patients (8.3%) due to sick sinus syndrome. The most common arrhythmias were atrial fibrillation occurring in 80 patients (51.3%) followed by first-degree AV block in 31 patients (19.9%). Sustained ventricular tachycardia occurred in 14 patients (8.9%) during hospitalization, device interrogation or ambulatory monitoring. Conclusions: Both atrial and ventricular arrhythmias are common manifestations of cardiac amyloidosis, frequently necessitating implantation of cardiac electronic devices.