Form Of Restrictive Cardiomyopathy Research Articles

The new 2023 ESC guidelines for the management of cardiomyopathies: a guiding path for cardiologist decisions.

In the ESC 2023 guidelines, cardiomyopathies are conservatively defined as 'myocardial disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease sufficient to cause the observed myocardial abnormality'. They are morpho-functionally classified as hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy with the addition of the left ventricular non-dilated cardiomyopathy that describes intermediate phenotypes not fulfilling standard disease definitions despite the presence of myocardial disease on cardiac imaging or tissue analysis. The new ESC guidelines provide 'a guide to the diagnostic approach to cardiomyopathies, highlight general evaluation and management issues, and signpost the reader to the relevant evidence base for the recommendations'. The recommendations and suggestions included in the document provide the tools to build up pathways tailored to specific cardiomyopathy (phenotype and cause) and define therapeutic indications, including target therapies where possible. The impact is on clinical cardiology, where disease-specific care paths can be assisted by the guidelines, and on genetics, both clinics and testing, where deep phenotyping and participated multi-disciplinary evaluation provide a unique tool for validating the pathogenicity of variants. The role of endomyocardial biopsy remains underexploited and confined to particular forms of restrictive cardiomyopathy, myocarditis, and amyloidosis. New research and development will be needed to cover the gaps between science and clinics. Finally, the opening up to disciplines such as bioinformatics, bioengineering, mathematics, and physics will support clinical cardiologists in the best governance of the novel artificial intelligence-assisted resources.

Impact of increased DPD scintigraphy on timing of diagnosis and prognosis of transthyretin cardiac amyloidosis over the course of ten years

Abstract Background 99mTechnetium labelled 3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) scintigraphy is a sensitive non-invasive method for imaging transthyretin cardiac amyloidosis (ATTR-CA). The emergence of novel pharmacotherapies for ATTR-CA has resulted in much greater disease awareness. Objective We aimed to assess the level of increased demand for DPD scintigraphy and its influence on the clinical phenotype of patients diagnosed with ATTR-CA over the past 10 years. Methods This was a retrospective observational cohort study of patients referred to our centre (2012–2022) for DPD scintigraphy in whom ATTR-CA was a differential diagnosis. The protocol consisted of a planar whole-body acquisition performed at 3 hours after the injection, followed by single-photon emission computed tomography imaging of the thorax. Intensity of myocardial uptake on the planar 99mTc-DPD scan was categorized as 0 to 3 according to the Perugini grading system. A diagnosis of ATTR-CA was established on the basis of heart failure symptoms together with characteristic echocardiography or cardiac magnetic resonance imaging, and a grade 2 or 3 cardiac uptake on Tc99m-DPD in the absence of biochemical evidence of a monoclonal dyscrasia. Results As of December 2022, we identified 426 DPD scans performed in 421 patients (mean age 75 ± 12 yr, 72% male) referred for 99mTc-DPD, of whom 151 subsequently had a diagnosis of ATTR-CA confirmed. Patients diagnosed with AL-CA (n=2) were excluded for the purpose of this analysis. The number of DPD scans increased significantly in 2021-2022 (211 out of 426 studies) compared with previous 2 year periods (p<0.01) with an increasing proportion of referrals in this period made by cardiologists (p<0.05). In patients diagnosed with ATTR-CA, the proportion of grade 2 versus grade 3 Perugini scans increased in 2021-2022 compared with earlier years. There was no difference in survival among patients according to DPD grading (Figure 1; log rank p = 0.35). There was also no difference in survival between patients with ATTR-CA patients and DPD negative patients presenting with other forms of restrictive cardiomyopathy (Figure 2; HR 1.46, 95%CI [0.94-2.26], log rank p= 0.09). Conclusions Based on DPD grading, patients are being referred earlier by cardiologists with suspected ATTR-CA. DPD grading does not, however, carry prognostic significance in those patients subsequently diagnosed with ATTR-CA. Patients referred but who are not subsequently diagnosed with ATTR-CA have a similarly adverse prognosis to those with ATTR-CA; this forgotten cohort of non-specific restrictive cardiomyopathy is worthy of further follow up and investigation.5 year survival for all patients

Risk Factors Associated with One Year Mortality from the Time of Cardiac Amyloid Diagnosis

<h3>Purpose</h3> Cardiac amyloidosis (CA) is a form of restrictive cardiomyopathy caused by deposition of immunoglobulin light chains (AL) or misfolded transthyretin (ATTR) in the myocardial interstitium. When diagnosed late, it is associated with increased morbidity and mortality and traditional care pathways when applied to CA patients can be potentially harmful. We thus sought to identify risk factors that predict ≤ 1 year survival after initial diagnosis of CA. <h3>Methods</h3> We performed a single-center, retrospective analysis on patients with CA proven by biopsy or grade 2-3 technetium pyrophosphate scan. Demographic information, clinical parameters, lab results, right heart catheterization numbers, EKG tracings, cardiac imaging parameters (cardiac MRI and echocardiography), and medications were collected. Univariate analysis was performed using the Chi-square test to assess differences in discrete variables and the T-test for continuous variables. The results were analyzed by using SAS JMP pro15. <h3>Results</h3> The 62 CA patients in our cohort were predominantly Caucasian (51.2%) males (87.1%) with a mean age of 72.4 years. Most had ATTR CA (n=48, 77.4% ). Twenty-two (37.4%) patients had at least NYHA class III symptoms at the time of presentation. Overall, 19 (30.6%) died within a year after being diagnosed. Hyponatremia (Na<135, HR 4.21; 95% CI 1.53-11.65), higher brain natriuretic peptide (BNP) levels (≥ 400, HR 4.12; 95% CI 1.17-14.47), higher blood urea nitrogen (BUN) levels (>24, HR 3.45; 95% CI 1.11-10.71), no tafamidis treatment (HR 5.98; 95% CI 1.38-25.91) and impaired left ventricular global longitudinal strain (GLS) on echocardiogram (>-10%, HR 5.24; 95% CI 1.12-24.52) were significant predictors for increased 1-year mortality on univariate analysis. <h3>Conclusion</h3> In our cohort of patients, hyponatremia, elevated BNP, BUN, marked impairment LV GLS (but not LVEF), and not being on tafamidis (for ATTR patients) are risk factors associated with ≤ 1 year survival from the time of cardiac amyloidosis diagnosis.

The role of serial 99mTc-DPD scintigraphy in monitoring cardiac transthyretin amyloidosis

Purpose Cardiac transthyretin amyloidosis is a usually fatal form of restrictive cardiomyopathy for which clinical trials of treatments are ongoing. It is anticipated that quantitative nuclear medicine scintigraphy, which is experiencing growing interest, will soon be used to evaluate treatment efficacy. We investigated its utility for monitoring changes in disease load over a significant time period. Methods Sixty-two treatment-naive patients underwent 99mTc-labelled 3,3-diphosphono-1,2propanodicarboxylic acid (99mTc-DPD) scintigraphy two to four times each over a five-year period. Quantitation of cardiac 99mTc-DPD retention was performed according to two established methods: measurement of heart-to-contralateral ratio (H/CL) in the anterior view (planar) and percentage of administered activity in the myocardium (SPECT). Results In total 170 datasets were analysed. Increased myocardial retention of 99mTc-DPD was demonstrable as early as 12 months from baseline. Year-on-year progression across the cohort was observed using SPECT-based quantitation, though on 30 occasions (27.8%) the change in our estimate was negative. Conclusions The spread of our results was notably high compared to the year-on-year increases. If left unaccounted for, variance may draw fallacious conclusions about changes in disease load. We therefore urge caution in drawing conclusions solely from nuclear medicine scintigraphy on a patient-by-patient basis, particularly across a short time period.

Early detection of myocardial dysfunction in a cat that gradually progressed to endomyocardial form of restrictive cardiomyopathy

BackgroundRestrictive cardiomyopathy (RCM) is a common myocardial disease in cats, characterized by diastolic dysfunction and atrial enlargement without myocardial hypertrophy. Especially, endomyocardial form of RCM, one of the subtypes in RCM, is characterized by endocardial fibrosis, endocardial scar bridging the interventricular septum and left ventricular (LV) free wall, and deformation and distortion of the LV. However, it is unclear how the myocardial dysfunction and the endocardial scar contribute to the pathophysiology of RCM disease progression.Case presentationA 3 years and 2 months old, intact male, Domestic shorthaired cat was presented for consultation of cardiac murmur. At the first visit (day 0), the notable abnormal finding was echocardiography-derived chordae tendineae-like structure bridging the interventricular septum and the LV free wall, resulting high-speed blood flow in the left ventricle. Electrocardiography, thoracic radiography and noninvasive blood pressure measurements were normal. No left atrial enlargement was observed, and LV inflow velocity showed an abnormal relaxation pattern. Although there was no abnormality in tissue Doppler imaging-derived myocardial velocity, two-dimensional speckle tracking echocardiography (2D-STE) revealed a decrease in the LV longitudinal strain and an increase in endocardial to epicardial ratio of the LV circumferential strain on day 0. On day 468, obvious left atrium enlargement and smoke like echo in the left atrium were observed. The LV inflow velocity was fused, and the tissue Doppler imaging-derived early-diastolic myocardial velocity of the septal mitral annulus decreased. Regarding 2D-STE, LV circumferential strain was further decreased, and right ventricular strain was additionally decreased. Although the general condition was good, we made a clinical diagnosis of endomyocardial RCM based on the above findings. On day 503, the cat showed the radiographic evidence of pulmonary edema and congestive heart failure signs.ConclusionsCats with abnormal LV structure and associated myocardial dysfunction like this case needs careful observation. Additionally, 2D-STE indices may be useful for early detection of myocardial dysfunction in feline RCM.

Cardiomyopathy in Pregnancy: A Review Literature

BACKGROUND: Pregnancy is an experience that many women can achieve. Pregnancy is generally well tolerated in asymptomatic patients with cardiomyopathies but in restrictive form cardiomyopathy, pregnancy cannot be tolerated because of poor prognosis. Prior cardiac events, poor functional class (New York Heart Association class III or IV), or advanced left ventricular systolic dysfunction are present, the risk of maternal cardiac complications during pregnancy are markedly increased. Worsening of the clinical condition can occur during pregnancy, despite intensive medical treatment. Although the incident of cardiovascular disease is present 0.5-4% in developed countries, our knowledge about various of cardiomyopathy and pregnancy should be updateable. CONCLUSION: Our literature provide three types of cardiomyopathy in pregnancy with an example condition for each type that relevant during pregnancy. Peripartum cardiomyopathy is the most common form of cardiomyopathy occured in pregnancy therefore a thorough review is needed to give best outcome for pregnancy. Arryhtmia is the commonnest form in hypertrophic cardiomyopathy which need to be regularly monitored and measure should be taken if the arryhtmia is life threatening for mother and the child. Cardiac amyloidosis is the common form of restrictive cardiomyopathy in pregnancy.

Outcomes of Restrictive Cardiomyopathy Following LVAD Placement: An IMACS Analysis

Background Outcomes of patients with advanced heart failure (HF) due to restrictive cardiomyopathy (RCM) remain unfavorable in spite of advances in HF therapies. Left ventricular assist devices (LVADs) are a standard therapeutic option for patients with advanced HF, however there is limited data to support LVAD implantation in these patients. The purpose of this study was to examine outcomes in patients with end-stage RCM following LVAD implantation when compared with those with dilated cardiomyopathies (DCM). Methods The International Registry for Mechanically Assisted Circulatory Support (IMACS) registry was queried for all patients with RCM (n = 179) and DCM (n = 15,335) who underwent durable LVAD implantation between January 2013 and September 2017. Patients with RCM were grouped into amyloidosis, sarcoidosis, radiotherapy, idiopathic and other forms of RCM. Baseline patient characteristics, survival, and adverse events were compared among the groups. Results Patients with RCM had a mean age of 56 years and were predominately male (78.9%). Echocardiograms of patients with RCM had significantly smaller left ventricular end-diastolic diameter (LVEDD) compared to DCM (6.3 cm vs 6.8 cm p Conclusions In this analysis of an international registry, we demonstrated that patients with RCM have similar outcomes compared with patients with DCM following LVAD implantation. This observation invites future prospective investigations on validating our findings and on identifying challenges in regards to LVAD implantation in patients with advanced HF due to RCM.

Endomyocardial fibrosis presented by ventricular tachycardia: case report

BackgroundEndomyocardial fibrosis (EMF) is a form of restrictive cardiomyopathy that is diagnosed mainly in children and young adults and is geographically found in Africa, Latin America, and Asia. It is a condition with high morbidity and mortality, unknown etiology, and no definitive treatment. Although its main clinical presentation is congestive heart failure with or without related supraventricular arrhythmia like atrial fibrillation, it very rarely presents with ventricular arrhythmias and tachycardias (VA, VT).Case presentationWe report a case of right ventricular (RV) EMF presented with recurrent attacks of hemodynamically unstable VT that required direct current (DC) cardioversion. The diagnosis was suspected by transthoracic echocardiography (TTE) and established by cardiac magnetic resonance (CMR). The patient underwent implantable cardioverter–defibrillator (ICD) implantation for secondary prevention of VT, and he was discharged safely on antiarrhythmic drugs with regular follow-up visits.ConclusionEMF presenting with VT are quite rare and to the best of our knowledge, our case is the fourth case in the literature to report VT as a clinical presentation of EMF.

An illustrative case of endocardial fibroelastosis and recalcitrant intracardiac thrombosis: a case report

BackgroundEndocardial Fibroelastosis is diffuse, accentuated proliferation of ventricular endocardium causing a rare form of restrictive cardiomyopathy in both children and adults. It is an incompletely understood cause of heart failure predominantly in Sub-Saharan Africa associated with high morbidity and mortality. Atrial fibrillation and thrombus formation are common accompanying complications and portend a poor prognosis. Due to rarity of the condition in the developed countries and lack of evidence based options, the optimal strategy for anticoagulation is unclear.Case presentationHerein, we describe a relatively asymptomatic patient with endocardial fibroelastosis who has been found to have atrial fibrillation and a large thrombus in the right atrium. Currently, there is no evidence-based strategy in the management of endocardial fibroelastosis-associated intracardiac thrombus. This case report illustrates a scenario by which the use of apixaban potentially benefited or prevented the thrombus formation compared with warfarin as demonstrated by imaging findings.ConclusionsThe patients with endocardial fibroelastosis are at risk of developing intracardiac thrombus due to sticky substrate lining cardiac chambers while being relatively asymptomatic. No directed therapy is known for the management of heart failure and any complications of subsequent arrhythmias. The general recommendations follow those of same conditions in other hosts. Novel oral anticoagulant agents can be considered in the treatment of atrial thrombus in the appropriate settings.

A thousand words about the imaging in cardiac amyloidosis

Cardiac amyloidosis is an infiltrative disease which usually occurs under the form of restrictive cardiomyopathy. Advances in the treatment have changed the unfavorable outcomes of this disease. Thus, early diagnosis is essential. Recent advances in echocardiography and cardiac magnetic resonance provided new modalities for the detection of cardiac amyloidosis. This summary discusses the role of imaging techniques in the diagnosis of cardiac amyloidosis.

Heart Transplantation for Cardiac Amyloidosis - Worthwhile?

Purpose Cardiac amyloidosis (CA) (both AL and TTR) results in restrictive cardiomyopathy (RCM) and is associated with a high mortality with a median survival of Methods Between 2010 and 2017 803 patients underwent HTx. We identified 41 patients who underwent HTx for CA (11 AL; 30 TTR). We compared these to 18 patients who underwent HTx for other types of RCM. We assessed 3-year actuarial survival, freedom from angiographic cardiac allograft vasculopathy (CAV) (>= 30% stenosis), non-fatal major adverse cardiac events (NF-MACE: myocardial infarction, new congestive heart failure, percutaneous coronary intervention, implantable cardioverter defibrillator/pacemaker implant, stroke) and rejection. Results Patients undergoing HTx for ATTR were significantly older than AL or RCM patients (69.7 vs 57.7 vs 47.8 yrs (p Conclusion HTx for CA in appropriately selected patients is associated with comparable outcomes at 3 years to patients undergoing HTx for other forms of RCM.

Cardiomyopathy With Restrictive Physiology in Sickle Cell Disease

ObjectivesThe aim of this study was to identify a unifying cardiac pathophysiology that explains the cardiac pathological features in sickle cell disease (SCD). BackgroundCardiopulmonary complications, the leading cause of adult death in SCD, are associated with heart chamber dilation, diastolic dysfunction, elevated tricuspid regurgitant jet velocity (TRV), and pulmonary hypertension. However, no unifying cardiac pathophysiology has been identified to explain these findings. MethodsIn a 2-part study, we first examined patients with SCD who underwent screening echocardiography during steady state at our institution. We then conducted a meta-analysis of cardiac studies in SCD. ResultsIn the 134 patients with SCD studied (median age 11 years), significant enlargement of the left atrial volume was present (z-score 3.1, p = 0.002), shortening fraction was normal (37.6 ± 4.7%), and lateral and septal ratios of mitral velocity to early diastolic velocity of the mitral annulus (E/e′) were severely abnormal in 8% and 14% of patients, respectively, indicating impaired diastolic function. Both TRV and lateral E/e′ correlated with enlarged left atrial volume in SCD (p = 0.003 and p = 0.006, respectively). Meta-analysis of 68 studies confirmed significant left atrial diameter enlargement in patients with SCD compared with controls, evidence of diastolic dysfunction and enlarged left ventricular end-diastolic dimension with normal shortening fraction. The majority of patients with catheter-confirmed pulmonary hypertension had mild pulmonary venous hypertension consistent with restrictive cardiac physiology. ConclusionsPatients with SCD have a unique form of cardiomyopathy with restrictive physiology that is superimposed on hyperdynamic physiology and is characterized by diastolic dysfunction, left atrial dilation, and normal systolic function. This combination results in mild, secondary, pulmonary venous hypertension and elevated TRV. Sudden death is common in other forms of restrictive cardiomyopathy. Our finding of this unique restrictive cardiomyopathy may explain the increased mortality rates and sudden death seen in patients with SCD with mildly elevated TRV.

Cardiomyopathies among Children Attending a Tertiary Hospital in South-western Nigeria

Background: Acquired heart diseases such as myocarditis, cardiomyopathies and rheumatic heart diseases are important noncommunicable diseases responsible for morbidity and mortality in children. We aim to describe the pattern and distribution of cardiomyopathies in children less than 13 years in a tertiary hospital in Southwestern Nigeria and compare with patterns in the subregion. Methods: Prospective and cross sectional, involving consecutive patients diagnosed with cardiomyopathy using echocardiography at the Paediatric Department of Lagos State University Teaching Hospital, Lagos Nigeria between January 2007 and December 2014. Results: Cardiomyopathy was documented in 31 (2.75%) children with structural heart disease and constituted 25% of patients with acquired heart disease during the study period. The prevalence of cardiomyopathy amongst the children attending the study centre was 9 in 100,000 children over an 8 year period. The mean age of the children was 5.48±4.0 with male to female ratio of 1:1.30. Congestive cardiac failure was the commonest indication for echocardiography, in 48.38% of all the patients. Dilated cardiomyopathy was the most common disease accounting for 71% of the cardiomyopathies, followed by Hypertrophic cardiomyopathy (16.1%) and Restrictive Cardiomyopathy (12.9%) respectively. The subjects with dilated cardiomyopathy were younger than the subjects with hypertrophic cardiomyopathy and restrictive cardiomyopathy. Conclusions: Cardiomyopathy is an important cause of congestive cardiac failure in children. Dilated cardiomyopathy is the predominant type of cardiomyopathy in our subjects followed by hypertrophic and restrictive cardiomyopathy. The subjects with dilated cardiomyopathy were younger than the subjects with hypertrophic cardiomyopathy and restrictive cardiomyopathy. Endomyocardial fibrosis is the predominant form of restrictive cardiomyopathy in our subjects.

Right‐Sided Endomyocardial Fibrosis with a Right Atrial Thrombus: Three‐Dimensional Transthoracic Echocardiographic Evaluation

Endomyocardial fibrosis is a form of restrictive cardiomyopathy mainly affecting poor children and young adults in geographically restricted areas of Latin America, Africa, and Southeast Asia. The pathophysiological hallmark of the disease is focal or diffuse endocardial thickening involving mainly the inflow, the apices, and the subvalvular region leading to valvular regurgitation, diastolic dysfunction and obliteration of the ventricular apex. Advanced right-sided disease has slow flow of blood through chambers with propensity of thrombus formation especially in the right atria. Although two-dimensional transthoracic echocardiography remains the cornerstone for the diagnosis of this disease, the case presented here shows how three-dimensional transthoracic echocardiography can add substantial information regarding the region of involvement of the right ventricle as well as the various characteristics of the right atrial thrombus.

Diagnostika a léčba nejčastější formy restriktivní kardiomyopatie: srdeční amyloidózy

Nejčastější restriktivní kardiomyopatií je AL amyloidóza, jejíž roční výskyt se odhaduje na osm až deset případů na milion obyvatel. Klinický obraz tvoří kombinace nespecifických celkových příznaků s projevy srdečního selhání. Základní diagnostickou metodou je echokardiografie s nálezem ztluštění a zvýšené tuhosti srdeční stěny, které vedou k diastolické dysfunkci levé komory. Zlatým standardem je histologický průkaz amyloidu a jeho imunohistochemická nebo imunoelektronmikroskopická typizace. Léčba probíhá v těsné spolupráci s hematologickým pracovištěm nebo přímo na něm a zaměřuje se na potlačení tvorby amyloidogenního proteinu. Včasná léčba AL amyloidózy může zlepšit dosud velmi nepříznivou prognózu těchto pacientů.

Cardiac Amyloidosis: The Importance of a Multidisciplinary Approach

Cardiac amyloidosis is associated with the interstitial deposition of abnormal protein in the myocardium, which can lead to a form of restrictive cardiomyopathy with a poor prognosis. This protein can have a number of different origins, which give rise to various subtypes of amyloidosis that have different prognoses and that require different therapeutic approaches. Drugs commonly used in heart failure have little effect in amyloidosis and the use of heart transplantation is controversial because amyloidosis is a multi-organ disease and because there is a possibility of disease recurrence in the graft. The use of new techniques to identify the specific amyloidosis subtype, the emergence of novel ways of preventing or decreasing amyloid production, the ability to monitor responses to therapy and, above all, the introduction of multidisciplinary teams that can implement a combination of therapies, including multiple organ transplantation, have contributed to a substantial improvement in the prognosis of this disease.

Endomyocardial fibrosis and restrictive cardiomyopathy: pathologic and clinical features

Restrictive cardiomyopathy (RCM) is a primary myocardial disorder characterized by diastolic dysfunction and wide phenotypic heterogeneity. Clinicopathologic features in cats are currently poorly defined. One form of RCM is associated with endomyocardial fibrosis. The hallmark feature of endomyocardial fibrosis RCM is severe endomyocardial scar that may diffusely involve the left ventricle, or appear as a distinct lesion bridging the ventricular septum and left ventricular free wall. In some cases this may reduce left ventricular chamber volume or result in apical or mid chamber stenosis with associated pressure gradients. Left atrial enlargement is generally severe. Ventricular hypertrophy is variable and is often associated with wall or chamber remodeling. Histopathologic features include striking endocardial scar, myocardial interstitial fibrosis, and in some instances, endomyocarditis.

Reversible Restrictive Cardiomyopathy Due to Light-Chain Deposition Disease

Systemic light-chain deposition due to plasma cell dyscrasias manifests as a form of restrictive cardiomyopathy with diastolic ventricular dysfunction. Although these manifestations are likely to be cardiac amyloidosis, whether these pathological conditions are reversible after treatment of the underlying plasma cell disorders is unknown. To our knowledge, we describe the first patient with cardiac light-chain deposition due to multiple myeloma in whom echocardiographic and biochemical factors of cardiac function were ameliorated dramatically after remission of this disorder. We emphasize that restrictive cardiomyopathy due to light-chain deposition may be reversible and have a relatively better prognosis after remission of plasma cell dyscrasias.