Cardiac sarcoidosis with extensive and heterogeneous left ventricular FDG uptake in absence of guidelines indication for an implantable defibrillator: Ventricular tachycardia precipitated by immunosuppressive therapy, should we have done differently?

A 40-year-old man, newly diagnosed with cardiac sarcoidosis (CS) presented with symptomatic ventricular tachycardia three days after starting steroid-based immunosuppressive therapy (IT). There was no clear guideline indication for implantable cardioverter-defibrillator (ICD) before the initiation of IT. Shortly after ICD implantation and the initiation of anti-arrhythmic drugs, recurring ventricular arrhythmias required titration of the anti-arrhythmic drug therapy. One-year follow-up assessment showed no significant arrhythmias and complete PET scan FDG uptake suppression. This case, along with recent publications, suggests transient pro-arrhythmic effects of steroids in patients with CS, which are not appropriately addressed in the current guidelines. We believe ICD implantation should be considered in clinically manifest CS before initiating IT, particularly in cases with heterogeneous and/or extensive FDG uptake on PET scans.

Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.

Variants of filamin C (FLNC) have been identified as rare genetic substrate for hypertrophic cardiomyopathy (HCM). Data on the clinical course of FLNC-related HCM are conflicting with some studies suggesting mild phenotypes whereas other studies have reported more severe outcomes. In this study, we present a novel FLNC variant (Ile1937Asn) that was identified in a large family of French-Canadian descent with excellent segregation data. FLNC-Ile1937Asn is a novel missense variant characterized by full penetrance and poor clinical outcomes. End stage heart failure requiring transplantation occurred in 43% and sudden cardiac death in 29% of affected family members. Other particular features of FLNC-Ile1937Asn include an early disease onset (mean age of 19 years) and the development of a marked atrial myopathy (severe biatrial dilatation with remodeling and multiple complex atrial arrhythmias) that was present in all gene carriers. The FLNC-Ile1937Asn variant is a novel, pathogenic mutation resulting in a severe form of HCM with full disease penetrance. The variant is associated with a high proportion of end-stage heart failure, heart transplantation, and disease-related mortality. Close follow-up and appropriate risk stratification of affected individuals at specialized heart centers is recommended.

Clinical and echocardiographic evolution of patients with arrhythmogenic cardiomyopathy before heart transplantation.

BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterized by fibrofatty myocardial replacement, and accurate diagnosis can be challenging. The clinical course of patients expressing a severe phenotype of the disease needing heart transplantation (HTx) is not well described in the literature. Therefore, this study aims to describe the clinical and echocardiographic evolution of patients with ACM necessitating HTx. METHODS: We retrospectively studied all patients who underwent HTx in our institution between 1998 and 2019 with a definite diagnosis of ACM according to the explanted heart examination. RESULTS: Ten patients with confirmed ACM underwent HTx. Only four of them had a diagnosis of ACM before HTx. These patients were 28 ± 15 years old at the time of their first symptoms. Patients received a diagnosis of heart failure (HF) after 5.9 ± 8.7 years of symptom evolution. The mean age at transplantation was 40 ± 17 years old. All the patients experienced ventricular tachycardia (VT) at least once before their HTx and 50% were resuscitated after sudden death. The mean left ventricular ejection at diagnosis and before transplantation was similar (32% ± 21% vs. 35.0% ± 19.3%, p = NS). Right ventricular dysfunction was present in all patients at the time of transplantation. CONCLUSION: Patients with ACM necessitating HTx show a high burden of ventricular arrhythmias and frequently present a biventricular involvement phenotype, making early diagnosis challenging. HF symptoms are the most frequent reason leading to the decision to transplant.

Survival, ventricular arrhythmia, and implantable cardioverter-defibrillator usefulness in toxic cardiomyopathy due to substance abuse.

BACKGROUND: Toxic dilated cardiomyopathy (T-DCM) due to substance abuse is now recognized as a potential cause of severe left ventricular dysfunction. The burden of ventricular arrhythmias (VA) and the role of a prophylactic implantable cardioverter-defibrillator (ICD) are not well documented in this population. We aim to assess the usefulness of ICD implantation in a T-DCM cohort. METHODS: Patients younger than 65 years with a left ventricular ejection fraction (LVEF) < 35% followed at a tertiary center heart failure (HF) clinic between January 2003 and August 2019 were screened for inclusion. The diagnosis of T-DCM was confirmed after excluding other etiologies, and substance abuse was established according to the DSM-5 criteria. The composite primary endpoints were arrhythmic syncope, sudden cardiac death (SCD), or death of unknown cause. The secondary endpoints were the occurrence of sustained VA and/or appropriate therapies in ICD carriers. RESULTS: Thirty-eight patients were identified, and an ICD was implanted in 19 (50%) of these patients, only one for secondary prevention. The primary outcome was similar between the two groups (ICD vs. non-ICD; p = 1.00). After a mean follow-up of 33 ± 36 months, only two VA episodes were reported in the ICD group. Three patients received inappropriate ICD therapies. One ICD implantation was complicated with cardiac tamponade. Twenty-three patients (61%) had an LVEF ≥35% at 12 months. CONCLUSION: VA are infrequent in the T-DCM population. The prophylactic ICD benefit was not observed in our cohort. The ideal timing for potential prophylactic ICD implantation in this population needs further studies.

What cardiologists should know about cardiac sarcoidosis in 2022?

PURPOSE OF REVIEW: Cardiac sarcoidosis (CS) is a potentially fatal condition when unrecognized or not treated adequately. The purpose of this review is to provide new strategies to increase clinical recognition of CS and to present an updated overview of the immunosuppressive treatments using most recent data published in the last 18 months. RECENT FINDINGS: CS is an increasingly recognized pathology, and its diagnostic is made 20 times more often in the last two decades. Recent studies have shown that imaging alone usually lacks specificity to distinguish CS from other inflammatory cardiomyopathies. However, imaging can be used to increase significantly diagnostic yield of extracardiac and cardiac biopsy. Recent reviews have also demonstrated that nearly 25% of patients will be refractory to standard treatment with prednisone and that combined treatment with a corticosteroid-sparing agent is often necessary for a period that remains undetermined. SUMMARY: CS is a complex pathology that should always require a biopsy attempt to have a histological proven diagnosis before starting immunosuppressive therapy consisting of corticosteroids with or without a corticosteroid-sparing agent.

Effect of concomitant surgical atrial fibrillation ablation in patients with reduced left ventricle ejection fraction: A propensity-score matching analysis.

BACKGROUND: Atrial fibrillation (AF) is common in patients with reduced left ventricle ejection fraction (RLVEF). The impact of concomitant surgical atrial fibrillation ablation (SAFA) in patients with RLVEF is uncertain. The purpose of this study was to assess the outcomes of concomitant SAFA in patients with RLVEF undergoing heart surgery on heart failure (HF) rehospitalization and mortality. METHODS: Using a local registry and electronic health records linked with provincial civil register survival data from July 2002 to April 2019, we analyzed treatment and outcomes in a cohort of patients with AF and HF defined by left ventricle ejection fraction (LVEF) ≤40%. Health records were used to collect treatment and International Classification of Diseases (ICD 10) codes to determine outcomes. A negative binomial model was used to compare outcomes such as all-cause mortality and rehospitalization for heart failure. RESULTS: The cohort included 682 patients with RLVEF and AF who underwent coronary artery bypass graft and/or valve surgery. A total of 196 patients (29%) underwent concomitant SAFA. After matching, 132 patients with concomitant SAFA were compared to 159 patients who did not undergo concomitant SAFA. At 6.0 ± 3.7 years of follow-up, concomitant SAFA was not associated with lower all-cause mortality (p = .9861) and reduction in rehospitalizations for heart failure decompensation (p = .31) compared to patients who did not have concomitant SAFA performed. Postoperatively, concomitant SAFA might be associated with less vasopressor and mechanical support use (p = .01). CONCLUSIONS: Concomitant SAFA during index cardiac surgery is safe but does not reduce mortality or rehospitalizations for HF. The effects of concomitant SAFA in the context of RLVEF need to be better studied with prospective trials.

Non-invasive diagnostic imaging tests largely underdiagnose cardiac cirrhosis in patients undergoing advanced therapy evaluation: How can we identify the high-risk patient?

BACKGROUND: Patients with liver cirrhosis are generally considered ineligible for isolated cardiac transplantation or left ventricular assist device (LVAD) implantation. The aim of this retrospective study is to explore the diagnostic value of abdominal ultrasound, computed tomography scan (CT scan) and liver-spleen scintigraphy to detect the presence of cirrhosis in patients with advanced heart failure. METHODS: Among 567 consecutive patients who underwent pre-transplantation or LVAD evaluation, 54 had a liver biopsy to rule out cardiac cirrhosis; we compared the biopsy results with the imaging investigations. RESULTS: In about 26% (n = 14) of patients undergoing liver biopsy, histopathological evaluation identified cirrhosis. The respective sensitivity of abdominal ultrasound, CT scan and liver-spleen scintigraphy to detect cirrhosis was 57% [29-82], 50% [16-84], and 25% [3-65]. The specificity was 80% [64-91], 89% [72-98], and 44% [20-70], respectively. CONCLUSION: Ultrasonography has the best-combined sensitivity and specificity for the diagnosis of cirrhosis. However, more than a third of patients with cirrhosis will go undiagnosed by conventional imaging. As liver biopsy is associated with a low rate of complication, it should be considered in patients with a high-risk of cirrhosis or with evidence of portal hypertension to assess their eligibility for heart transplantation or LVAD implantation.

Prognosis of functional mitral regurgitation after aortic valve replacement for pure severe aortic stenosis.

OBJECTIVE: Whether patients with severe aortic stenosis (AS) and significant functional mitral regurgitation (MR) should undergo isolated aortic (aortic valve replacement [AVR]) or double aortic-mitral valve procedure (DVP) remains controversial. We sought to determine outcomes of such patients undergoing surgical (surgical aortic valve replacement [SAVR]) and transcatheter AVR (TAVR) or DVP, identify echocardiographic parameters predictive of significant residual MR after isolated AVR, and determine its impact on long-term survival. METHODS: Data prospectively collected from 736 consecutive patients with severe AS and significant MR undergoing AVR or DVP were retrospectively analyzed. Exclusion of organic MR, other valve diseases and concomitant CABG yielded a final population of 74 patients with significant functional MR (32 TAVR, 23 SAVR, 19 DVP). Demographics, postoperative complications and age-adjusted survival were compared. Echocardiographic predictors of significant residual MR and its impact on survival were analyzed for patients undergoing isolated AVR. RESULTS: In the isolated AVR group, MR improvement occurred in 60% of patients and was associated with a significant increase in survival compared to persistence of significant MR (p = .03). Patients with improved MR had significantly greater preoperative left ventricular dilatation (LVEDD: 49 vs. 43 mm, p = .001; LVESD: 35 vs. 29 mm, p = .03; LVEDV: 101 vs. 71 ml, p = .0003; LVESV: 57 vs. 33 ml, p = .002). There was no significant difference in perioperative mortality (5.3 vs. 4.4 vs. 9.4%, p = .85) or age-adjusted long-term survival between isolated AVR and DVP groups (76.3 vs. 84.2% survival at 2-year follow-up, p = .26), or between SAVR, TAVR and DVP groups (78.2 vs. 75.0 vs. 84.2% survival at 2-year follow-up, p = .13). CONCLUSIONS: After isolated AVR, MR improvement occurs in 60% of patients. It is predicted by greater ventricular dimensions and associated with significantly better long-term survival. Whether a staged approach with transcatheter correction of MR should be considered in patients with significant residual MR following AVR remains undetermined.

Annulus root enlargement during redo aortic valve replacement: Perioperative results and hemodynamic impact.

OBJECTIVES: Redo aortic valve replacement (AVR) might present an increased risk for predicted patient-prosthesis mismatch (PPM). Aortic root enlargement (ARE) procedures can decrease PPM and improve hemodynamic parameters. It is crucial to evaluate the safety of ARE in the context of redo AVR to allow better patient selection. METHODS: This is a matched case-control study of 125 patients who underwent a redo AVR between 1991 and 2016, 21 patients had a concomitant ARE procedure. Patients were matched for age, gender, presence of coronary artery disease, renal clearance, left ventricular ejection fraction, and body mass index. The primary outcome was the occurrence of major adverse cardiovascular events (MACE). Secondary outcomes were postoperative impact of the ARE procedures on echocardiographic measurements and survival. RESULTS: Preoperatively, indexed aortic valve area (0.49 vs 0.66 cm2 /m2 ; P = .02) and left ventricle outflow tract diameters (20.1 vs 22.2 mm; P < .01) were significantly smaller in the ARE group. ARE procedures increased the aortic valve area by an average of 0.4 cm2 (pre = 0.9, post = 1.3; P < .01), with a reduction of maximum and mean transvalvular gradients of 26.6 mm Hg (pre = 56.8, post = 30.2; P < .01) and 17.1 mm Hg (pre = 31.9, post = 14.8; P < .01), respectively. Postoperatively, the occurrence of MACE was similar (ARE = 19%, no ARE = 14%; P = .68). Survival rates were similar (P = .29). CONCLUSIONS: For patients undergoing redo AVR, ARE is not associated with higher perioperative mortality and morbidity when compared with patients undergoing AVR without ARE. The fear of perioperative complications potentially associated with ARE should not be a prohibiting factor in symptomatic redo patients with small aortic annulus and predicted PPM.

Prosthetic aortic valve thrombosis: To fibrinolyse or not to fibrinolyse? That is the question!

Prosthetic heart valve (PHV) dysfunction is a rare but serious complication whose optimal management may be challenging and requires a multidisciplinary approach. Treatment success ultimately depends on determining the underlying mechanism of valve dysfunction by echocardiography. However, being able to establish the main etiology is not always straightforward. We present a difficult case of obstructive PHV dysfunction and discuss clinical and echocardiographic parameters to help differentiate thrombus from pannus formation.

Clinical and echocardiographic presentation of postmyocardial infarction papillary muscle rupture.

BACKGROUND: Severe mitral regurgitation (MR) can occur following myocardial infarction (MI) with either partial or complete papillary muscle rupture (pPMR or cPMR). Although the incidence of this complication has significantly decreased, it is still associated with significant mortality. We sought to evaluate the different echocardiographic and clinical presentations of pPMR and cPMR. METHODS AND RESULTS: A review of all the urgent procedures for ischemic MR between January 2000 and June 2016 was performed to identify patients who underwent surgery for PMR. Surgical protocols and echocardiographic studies were used to identify patients with cPMR and pPMR. A total of 37 patients had cardiac surgery for PMR (18 cPMR, 19 pPMR). All patients with cPMR were in cardiogenic shock at the time of diagnosis, as opposed to only 53% of patients with pPMR (P = 0.0008). Between the time of diagnosis and surgery, 7 patients with pPMR developed cardiogenic shock. Transthoracic echocardiography (TTE) led to the diagnosis in 72% of cPMR and 32% of pPMR (P = 0.02). TEE had a yield of 100% for both cPMR and pPMR. Six pathologic varieties of post-MI PMR were recognized on echocardiography and during surgery. Early postoperative, 1 (72% vs 84%), 3 (67% vs 84%), and 5 years (67% vs 74%) survival rates were similar for cPMR and pPMR (P = 0.26). CONCLUSIONS: Partial PMR is associated with a different clinical and echocardiographic presentation than cPMR. Still, most pPMR patients progress toward cardiogenic shock. Prompt diagnosis and referral for surgery are critical and could potentially decrease mortality.

Early Use of Cardiac Resynchronization Therapy to Accelerate Symptomatic Relief and Complete Left Ventricular Function Recovery in Peripartum Cardiomyopathy.

Peripartum cardiomyopathy (PPCM) is a rare cause of heart failure that develops during the last month of pregnancy or within first months of delivery. We report the case of a 40-year-old woman diagnosed with severely symptomatic PPCM characterized by left ventricular ejection fraction (LVEF) of 10% and significant dyssynchrony secondary to a left bundle branch block (LBBB). Early cardiac resynchronization therapy (CRT) was used to achieve remarkable functional and LVEF recovery. This case suggests that early CRT must be considered for patients suffering from severely symptomatic PPCM despite optimal medical therapy for whom advanced heart failure therapies are proposed.

Prevalence and Impact of Prosthesis-Patient Mismatch Following Surgical Aortic Valve Replacement for Pure Aortic Regurgitation.

BACKGROUND: Prosthesis-patient mismatch (PPM) is highly prevalent among patients undergoing aortic valve replacement (AVR) to treat aortic stenosis. Data regarding the prevalence and impact of PPM on left ventricular remodeling and outcomes in patients who have undergone surgical AVR to treat pure severe aortic regurgitation (AR) are, however, scarce. METHODS: A retrospective analysis was conducted of clinical and echocardiographic data acquired from 50 consecutive patients with pure severe AR, without evidence of significant coronary artery disease, who underwent AVR between 2004 and 2010 at the authors' institution. PPM was defined as a projected in vivo effective orifice area (EOA) 0.85 cm2/m2. RESULTS: The incidence of PPM was 16%, but no severe mismatch occurred. At a mean follow up of 52 ± 39 months, event-free survival (a composite of all-cause mortality and hospitalization for cardiovascular causes) was similar between patients with and without PPM (p = 0.73). Within seven days after surgery, mean reductions in indexed left ventricular end-diastolic diameter (LVEDD) and indexed left ventricular end-systolic diameter (LVESD) were similar between patients with and without PPM [4.4 mm/m2 versus 5.0 mm/m2; p = 0.67 and 1.6 mm/m2 versus 2.2 mm/m2; p = 0.35, respectively]. At follow up, no difference was observed for mean reductions in indexed LVEDD and indexed LVESD [6.9 mm/m2 versus 7.1 mm/m2; p = 0.91 and 4.1 mm/m2 versus 5.1 mm/m2; p = 0.57, respectively], and mean improvement in left ventricular ejection fraction (4.4% versus 5.1%; p = 0.87). CONCLUSIONS: PPM occurs less frequently in patients undergoing AVR for pure severe AR than for aortic stenosis, and seems to have a less significant impact on ventricular remodeling and outcomes.

Clinical Presentation and Value of Echocardiography in the Diagnosis of Freestyle Aortic Bioprosthesis Leaflet Tears: A Retrospective Study.

BACKGROUND: The unique design of the Freestyle stentless aortic bioprosthesis has led to different mechanisms of failure, particularly leaflet tearing. The aim of this retrospective study was to review the clinical presentation and echocardiographic data of symptomatic patients with leaflet tears and significant aortic regurgitation (AR) following implantation of the Freestyle bioprosthesis. METHODS: Between January 1993 and May 2011, a total of 430 consecutive patients was identified at the authors' institution who had undergone primary aortic valve replacement with a Freestyle stentless aortic bioprosthesis. Clinical and echocardiographic data were collected prospectively for all patients. Structural valve deterioration was the major cause of bioprosthetic valve failure. RESULTS: Twenty symptomatic patients presented with significant AR due to leaflet tears in the absence of more than mild valvular calcification. At presentation, all patients complained of dyspnea. Some 50% of patients (n = 10) presented with acute pulmonary edema, and 10% (n = 2) with cardiogenic shock. A leaflet tear was initially diagnosed using transthoracic echocardiography in five cases (25%), using transesophageal echocardiography (TEE) in eight cases (40%), or at surgery in seven cases (35%). An appropriate diagnosis of leaflet tearing was recognized at surgery in more than one-third of patients. Consequently, clinicians must be aware of the variety of clinical presentations and should have a high degree of suspicion regarding leaflet tears in patients who have received a Freestyle stentless aortic bioprosthesis and present with moderate to severe AR. CONCLUSIONS: For the optimal management of patients with Freestyle stentless aortic bioprosthesis and new moderate to severe AR, TEE should be considered in all patients.

Predictors and prognosis of early ischemic mitral regurgitation in the era of primary percutaneous coronary revascularisation.

BACKGROUND: Studies assessing ischemic mitral regurgitation (IMR) comprised of heterogeneous population and evaluated IMR in the subacute setting. The incidence of early IMR in the setting of primary PCI, its progression and clinical impact over time is still undetermined. We sought to determine the predictors and prognosis of early IMR after primary percutaneous coronary intervention (PCI) for ST-elevation myocardial infarction (STEMI). METHODS: Using our primary PCI database, we screened for patients who underwent ≥2 transthoracic echocardiograms early (1-3 days) and late (1 year) following primary PCI. The primary outcomes were: (1) major adverse events (MACE) including death, ischemic events, repeat hospitalization, re-vascularization and mitral repair or replacement (2) changes in quantitative echocardiographic assessments. RESULTS: From January 2006 to July 2012, we included 174 patients. Post-primary PCI IMR was absent in 95 patients (55%), mild in 60 (34%), and moderate to severe in 19 (11%). Early after primary PCI, IMR was independently predicted by an ischemic time > 540 min (OR: 2.92 [95% CI, 1.28 - 7.05]; p = 0.01), and female gender (OR: 3.06 [95% CI, 1.42 - 6.89]; p = 0.004). At a median follow-up of 366 days [34-582 days], IMR was documented in 44% of the entire cohort, with moderate to severe IMR accounting for 15%. During follow-up, MR regression (change ≥ 1 grade) was seen in 18% of patients. Moderate to severe IMR remained an independent predictor of MACE (HR: 2.58 [95% CI, 1.08 - 5.53]; p = 0.04). CONCLUSIONS: After primary PCI, IMR is a frequent finding. Regression of early IMR during long-term follow-up is uncommon. Since moderate to severe IMR post-primary PCI appears to be correlated with worse outcomes, close follow-up is required.

Outcomes following surgical correction of pure aortic regurgitation in presence or absence of significant functional mitral regurgitation.

BACKGROUND: Functional mitral regurgitation (MR) can occur secondary to severe aortic regurgitation (AR). However, data on the overall impact of mitral surgical intervention after aortic valve replacement (AVR) are scarce. We sought to study the left ventricular (LV) remodeling process and determine predictors of clinical outcomes of patients with pure severe AR in presence or absence of significant functional MR. METHODS: Patients were categorized into AR-MR group (≤ mild MR; n = 51, 76%) and AR + MR group (≥ moderate MR; n = 16, 24%). All patients in the AR + MR group underwent AVR and MR correction. Serial echocardiographic measurements and clinical follow-up up to 5 years were obtained in all patients. RESULTS: Significant reverse LV remodeling occurred in both groups compared with baseline. No 30-day deaths occurred. Mortality and heart failure-related hospitalization rates, at follow-up, were significantly higher in the AR + MR group (19% vs. 2%, P = 0.04 and 38% vs. 12% P = 0.03, respectively), but a similar proportion of patients from both groups was in New York Heart Association class I or II (87% vs. 92%, P = 0.62). Preoperative indexed stroke volume (SV) <50 mL/m2 was the only independent predictor of death and/or rehospitalization after surgery (odds ratio: 61.1, [95% CI, 12.6­425.2]; P < 0.0001). CONCLUSION: Despite being a higher risk population, patients with moderate-to-severe functional MR secondary to severe AR experience similar postoperative mortality at the expense of a moderately higher 5-year overall mortality, rate of hospitalization for congestive heart failure, and medication use. Preoperative indexed SV < 50 mL/m2 may be helpful in predicting long-term outcomes.

Young patient presenting with cardiogenic shock and refractory ventricular tachycardia: a case of unsuspected arrhythmogenic cardiomyopathy leading to urgent heart transplantation.

Arrhythmogenic right ventricular cardiomyopathy is an important differential diagnosis in young patients presenting with palpitations and/or dyspnea and must be appropriately investigated. A 23-year-old man presented with cardiogenic shock and monomorphic ventricular tachycardia. He reported palpitations and progressive dyspnea for more than two years, but those symptoms were attributed to anxiety without any further investigation by his family physician. Investigations after the catastrophic presentation in our center suggested terminal right-sided heart failure with severe hepatic insufficiency and acute kidney injury. The patient benefited from extracorporeal membrane oxygenation, followed by an urgent heart transplant 16 days later after the exclusion of liver cirrhosis. Histopathologic analysis of the explanted heart confirmed arrhythmogenic cardiomyopathy.