Clinical outcomes in adult athletes with hypertrophic cardiomyopathy: a 7-year follow-up study

2020 ◽  
Vol 54 (16) ◽  
pp. 1008-1012 ◽  
Author(s):  
Antonio Pelliccia ◽  
Stefano Caselli ◽  
Matteo Pelliccia ◽  
Maria Beatrice Musumeci ◽  
Erika Lemme ◽  
...  

ObjectiveCurrent guidelines recommend precautionary disqualification from competitive sports in patients with hypertrophic cardiomyopathy (HCM). We assessed the incidence of cardiovascular events in a cohort of patients with HCM engaged in long-term exercise programmes and competitive sport.MethodsWe reviewed data on 88 consecutive athletes diagnosed with HCM, from 1997 to 2017; 92% male, 98% Caucasian, median age 31 (IQR: 19–44) years. All participated in regular exercise programmes and competitive sport at study entry.We performed follow-up evaluation after 7±5 (1–21) years. 61 (69%) of the athletes had substantially reduced or stopped exercise and sport (ie, HCM-detrained), and 27 had continued with regular training and sport competitions (HCM-trained). At baseline evaluation, both groups were similar for age, gender balance, symptoms, ECG abnormalities, extent of left ventricular hypertrophy, arrhythmias and risk profile for sudden cardiac death/arrest.ResultsDuring the follow-up period, two participants suffered sudden cardiac arrest or death (0.3% per year) both outside of sport participation. In addition, 19 (22%) reported symptoms (syncope in 3, palpitations in 10, chest pain in 4 and dyspnoea in 2). The Kaplan-Meier analyses of freedom from combined sudden cardiac arrest/death and symptoms (log-rank test p=0.264) showed no differences between HCM-trained and detrained patients.ConclusionIn this adult cohort of low-risk HCM athletes, voluntary decision to pursue in participation in competitive sport events was not associated with increased risk for major cardiac events or clinical worsening compared with decision to reduce or withdraw from exercise programmes and sport. Similar results may not be seen in younger or racially diverse athlete populations, or in patients with more severe HCM phenotypes.

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Ethan J Rowin ◽  
Barry J Maron ◽  
Tammy S Haas ◽  
John R Lesser ◽  
Mark S Link ◽  
...  

Background: Increasing penetration of high spatial resolution cardiovascular magnetic resonance (CMR) imaging into routine cardiovascular practice has resulted in more frequent identification of a subset of hypertrophic cardiomyopathy (HCM) patients with thin-walled, scarred left ventricular (LV) apical aneurysms. Prior experience involved relatively small numbers of patients with short follow-up and therefore the risk associated with this subgroup remains incompletely defined. Therefore, we assembled a large HCM cohort with LV apical aneurysms and long-term follow-up in order to clarify clinical course and prognosis. Methods and Results: Of 2,400 HCM patients, 60 (2.5%) were identified by CMR with LV apical aneurysm, 24 to 86 years of age, including 19 (32%) <45 years old; 70% male, and followed for 5.6 ± 3.5 years. Over the follow-up period, 24 patients experienced 31 adverse disease-related complications including: appropriate implantable cardioverter-defibrillator discharge for VT/VF (n=11), received or listed for heart transplant (n=6), heart failure death (n=5), nonfatal thromboembolic events (n=4), resuscitated out-of-hospital cardiac arrest (n=3), and sudden death (n=2). In addition, an intracavitary thrombus was identified in the apical aneurysm in 9 patients without a thromboembolic history. Combined HCM-related death and aborted life threatening event rate was 8.6% per year, nearly 6-fold greater than the 1.5% annual mortality rate reported in the general HCM population. Conclusions: Patients with LV apical aneurysms represent a high-risk subgroup within the diverse HCM spectrum, associated with substantial increased risk for disease-related morbidity and mortality, including advanced heart failure, thromboembolic stroke and sudden death. Identification of this unique HCM phenotype should prompt consideration for primary prevention ICD, and anticoagulation for stroke prophylaxis.


2013 ◽  
Vol 41 (4) ◽  
pp. 1281-1290 ◽  
Author(s):  
Yanbing Li ◽  
Jun Mao ◽  
Qian Yan ◽  
Shuyuan Qi ◽  
Xiaoyan Liu ◽  
...  

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
P Van Der Bijl ◽  
R Abou ◽  
L Goedemans ◽  
B.J Gersh ◽  
D.R Holmes ◽  
...  

Abstract Background While the presence left ventricular (LV) remodelling after ST-segment elevation myocardial infarction (STEMI) is known to worsen prognosis, the impact of progressive vs. stable LV remodelling on outcome has not been established. Purpose To investigate the impact of progressive LV remodelling on outcome in STEMI patients who were treated with primary percutaneous coronary intervention (PCI) and optimal pharmacotherapy. Methods Baseline, 3-, 6- and 12-month echocardiograms were analysed. Early LV remodelling (ER) was defined as a ≥20% increase in LV end-diastolic volume (EDV) during the first 3 months post-STEMI, and mid-term remodelling (MTR) as ≥20% LVEDV change by 6 months. Progressive LV remodelling was defined according to spline curve analyses: ≥0% LVEDV increase by 6 months (i.e. further increase after 3 months) for ER, and ≥20% by 12 months (i.e. an additional increase after 6 months) for MTR. The impact of progressive LV remodelling on outcome was evaluated with a Log rank test. Results 589 STEMI patients (mean age 61±12 years, 78% male) who demonstrated LV remodelling in the first 6 months post-infarct, were analysed: 408 (69%) ER and 181 (31%) MTR. Progressive LV remodelling occurred in 146 (36%) ER and in 12 (7%) MTR. After a median follow-up of 90 (IQR 64–117) months, 39 (10%) ER were hospitalised for heart failure. 25 (14%) MTR remodellers died after a median follow-up of 86 (IQR 66–112) months. Progressive LV remodelling in ER led to a higher rate of heart failure hospitalisation (P=0.017 vs. non-progressive ER, Fig. 1A) but no mortality difference (P=0.10 vs. non-progressive ER). In contrast, MTR with progressive LV remodelling experienced worse survival (P=0.01 vs. non-progressive MTR, Fig. 1B) but no increase in heart failure hospitalisation (P=0.65 vs. non-progressive MTR). Conclusions Progressive LV remodelling causes an increased risk of heart failure in ER post-infarct, vs. higher mortality in MTR. These two patterns of progressive, post-infarct LV remodelling possibly represent different underlying pathophysiological mechanisms: i.e. evolution of true post-infarct remodelling in ER, vs. natural history of established heart failure in MTR. Figure 1 Funding Acknowledgement Type of funding source: None


2019 ◽  
Vol 29 (09) ◽  
pp. 1214-1216
Author(s):  
Ziva Petrin ◽  
Benjamin Soffer ◽  
Steven J. Daniels

AbstractWe present a case of sudden cardiac arrest in the field with complete neurological recovery in an 18-year-old athlete with phenotypic Noonan syndrome. Evaluation revealed interventricular septal thickness of 18 mm without left ventricular outflow tract obstruction and no other identifiable structural, electrophysiologic, or genetic abnormality except isolated heterozygous variant for desmoplakin DSP variant p.Lys2103Glu, with unknown clinical significance.


Author(s):  
Sanam Shafaattalab ◽  
Alison Y Li ◽  
Marvin G Gunawan ◽  
BaRun Kim ◽  
Farah Jayousi ◽  
...  

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disease and often results in cardiac remodeling and an increased incidence of sudden cardiac arrest (SCA) and death, especially in youth and young adults. Among thousands of different variants found in HCM patients, variants of TNNT2 (cardiac troponin T—TNNT2) are linked to increased risk of ventricular arrhythmogenesis and sudden death despite causing little to no cardiac hypertrophy. Therefore, studying the effect of TNNT2 variants on cardiac propensity for arrhythmogenesis can pave the way for characterizing HCM in susceptible patients before sudden cardiac arrest occurs. In this study, a TNNT2 variant, I79N, was generated in human cardiac recombinant/reconstituted thin filaments (hcRTF) to investigate the effect of the mutation on myofilament Ca2+ sensitivity and Ca2+ dissociation rate using steady-state and stopped-flow fluorescence techniques. The results revealed that the I79N variant significantly increases myofilament Ca2+ sensitivity and decreases the Ca2+ off-rate constant (koff). To investigate further, a heterozygous I79N+/−TNNT2 variant was introduced into human-induced pluripotent stem cells using CRISPR/Cas9 and subsequently differentiated into ventricular cardiomyocytes (hiPSC-CMs). To study the arrhythmogenic properties, monolayers of I79N+/− hiPSC-CMs were studied in comparison to their isogenic controls. Arrhythmogenesis was investigated by measuring voltage (Vm) and cytosolic Ca2+ transients over a range of stimulation frequencies. An increasing stimulation frequency was applied to the cells, from 55 to 75 bpm. The results of this protocol showed that the TnT-I79N cells had reduced intracellular Ca2+ transients due to the enhanced cytosolic Ca2+ buffering. These changes in Ca2+ handling resulted in beat-to-beat instability and triangulation of the cardiac action potential, which are predictors of arrhythmia risk. While wild-type (WT) hiPSC-CMs were accurately entrained to frequencies of at least 150 bpm, the I79N hiPSC-CMs demonstrated clear patterns of alternans for both Vm and Ca2+ transients at frequencies &gt;75 bpm. Lastly, a transcriptomic analysis was conducted on WT vs. I79N+/−TNNT2 hiPSC-CMs using a custom NanoString codeset. The results showed a significant upregulation of NPPA (atrial natriuretic peptide), NPPB (brain natriuretic peptide), Notch signaling pathway components, and other extracellular matrix (ECM) remodeling components in I79N+/− vs. the isogenic control. This significant shift demonstrates that this missense in the TNNT2 transcript likely causes a biophysical trigger, which initiates this significant alteration in the transcriptome. This TnT-I79N hiPSC-CM model not only reproduces key cellular features of HCM-linked mutations but also suggests that this variant causes uncharted pro-arrhythmic changes to the human action potential and gene expression.


2021 ◽  
Vol 10 (22) ◽  
pp. 5256
Author(s):  
Kathrin Pollmann ◽  
Emanuel Kaltenecker ◽  
Julia Schleihauf ◽  
Peter Ewert ◽  
Agnes Görlach ◽  
...  

Hypertrophic cardiomyopathy (HCM) is associated with adverse left ventricular (LV) remodeling causing dysfunction and malignant arrhythmias. Severely affected patients present with disease onset during childhood and sudden cardiac death risk (SCD) stratification is of the highest importance in this cohort. This study aimed to investigate genotype–phenotype association regarding clinical outcome and disease progression in pediatric onset HCM. Medical charts from forty-nine patients with pediatric HCM who had undergone genetic testing were reviewed for retrospective analysis. Demographic, clinical, transthoracic echocardiographic, electrocardiographic, long-term electrocardiogram, cardiopulmonary exercise test, cardiac magnetic resonance, and medication data were recorded. Childhood onset HCM was diagnosed in 29 males and 20 females. Median age at last follow-up was 18.7 years (range 2.6–51.7 years) with a median follow-up time since diagnosis of 8.5 years (range 0.2–38.0 years). Comparison of patients carrying mutations in distinct genes and comparison of genotype-negative with genotype-positive individuals, revealed no differences in functional classification, LV morphology, hypertrophy, systolic and diastolic function, fibrosis and cardiac medication. Patients with compound mutations had a significantly higher risk for major arrhythmic events than a single-mutation carrier. No association between affected genes and disease severity or progression was identified in this cohort.


scholarly journals POSTERS (2)96CONTINUOUS VERSUS INTERMITTENT MONITORING FOR DETECTION OF SUBCLINICAL ATRIAL FIBRILLATION IN HIGH-RISK PATIENTS97HIGH DAY-TO-DAY INTRA-INDIVIDUAL REPRODUCIBILITY OF THE HEART RATE RESPONSE TO EXERCISE IN THE UK BIOBANK DATA98USE OF NOVEL GLOBAL ULTRASOUND IMAGING AND CONTINUEOUS DIPOLE DENSITY MAPPING TO GUIDE ABLATION IN MACRO-REENTRANT TACHYCARDIAS99ANTICOAGULATION AND THE RISK OF COMPLICATIONS IN PATIENTS UNDERGOING VT AND PVC ABLATION100NON-SUSTAINED VENTRICULAR TACHYCARDIA FREQUENTLY PRECEDES CARDIAC ARREST IN PATIENTS WITH BRUGADA SYNDROME101USING HIGH PRECISION HAEMODYNAMIC MEASUREMENTS TO ASSESS DIFFERENCES IN AV OPTIMUM BETWEEN DIFFERENT LEFT VENTRICULAR LEAD POSITIONS IN BIVENTRICULAR PACING102CAN WE PREDICT MEDIUM TERM MORTALITY FROM TRANSVENOUS LEAD EXTRACTION PRE-OPERATIVELY?103PREVENTION OF UNECESSARY ADMISSIONS IN ATRIAL FIBRILLATION104EPICARDIAL CATHETER ABLATION FOR VENTRICULAR TACHYCARDIA ON UNINTERRUPTED WARFARIN: A SAFE APPROACH?105HOW WELL DOES THE NATIONAL INSTITUTE OF CLINICAL EXCELLENCE (NICE) GUIDENCE ON TRANSIENT LOSS OF CONSCIOUSNESS (T-LoC) WORK IN A REAL WORLD? AN AUDIT OF THE SECOND STAGE SPECIALIST CARDIOVASCULAT ASSESSMENT AND DIAGNOSIS106DETECTION OF ATRIAL FIBRILLATION IN COMMUNITY LOCATIONS USING NOVEL TECHNOLOGY'S AS A METHOD OF STROKE PREVENTION IN THE OVER 65'S ASYMPTOMATIC POPULATION - SHOULD IT BECOME STANDARD PRACTISE?107HIGH-DOSE ISOPRENALINE INFUSION AS A METHOD OF INDUCTION OF ATRIAL FIBRILLATION: A MULTI-CENTRE, PLACEBO CONTROLLED CLINICAL TRIAL IN PATIENTS WITH VARYING ARRHYTHMIC RISK108PACEMAKER COMPLICATIONS IN A DISTRICT GENERAL HOSPITAL109CARDIAC RESYNCHRONISATION THERAPY: A TRADE-OFF BETWEEN LEFT VENTRICULAR VOLTAGE OUTPUT AND EJECTION FRACTION?110RAPID DETERIORATION IN LEFT VENTRICULAR FUNCTION AND ACUTE HEART FAILURE AFTER DUAL CHAMBER PACEMAKER INSERTION WITH RESOLUTION FOLLOWING BIVENTRICULAR PACING111LOCALLY PERSONALISED ATRIAL ELECTROPHYSIOLOGY MODELS FROM PENTARAY CATHETER MEASUREMENTS112EVALUATION OF SUBCUTANEOUS ICD VERSUS TRANSVENOUS ICD- A PROPENSITY MATCHED COST-EFFICACY ANALYSIS OF COMPLICATIONS & OUTCOMES113LOCALISING DRIVERS USING ORGANISATIONAL INDEX IN CONTACT MAPPING OF HUMAN PERSISTENT ATRIAL FIBRILLATION114RISK FACTORS FOR SUDDEN CARDIAC DEATH IN PAEDIATRIC HYPERTROPHIC CARDIOMYOPATHY: A SYSTEMATIC REVIEW AND META-ANALYSIS115EFFECT OF CATHETER STABILITY AND CONTACT FORCE ON VISITAG DENSITY DURING PULMONARY VEIN ISOLATION116HEPATIC CAPSULE ENHANCEMENT IS COMMONLY SEEN DURING MR-GUIDED ABLATION OF ATRIAL FLUTTER: A MECHANISTIC INSIGHT INTO PROCEDURAL PAIN117DOES HIGHER CONTACT FORCE IMPAIR LESION FORMATION AT THE CAVOTRICUSPID ISTHMUS? INSIGHTS FROM MR-GUIDED ABLATION OF ATRIAL FLUTTER118CLINICAL CHARACTERISATION OF A MALIGNANT SCN5A MUTATION IN CHILDHOOD119RADIOFREQUENCY ASSOCIATED VENTRICULAR FIBRILLATION120CONTRACTILE RESERVE EXPRESSED AS SYSTOLIC VELOCITY DOES NOT PREDICT RESPONSE TO CRT121DAY-CASE DEVICES - A RETROSPECTIVE STUDY USING PATIENT CODING DATA122PATIENTS UNDERGOING SVT ABLATION HAVE A HIGH INCIDENCE OF SECONDARY ARRHYTHMIA ON FOLLOW UP: IMPLICATIONS FOR PRE-PROCEDURE COUNSELLING123PROGNOSTIC ROLE OF HAEMOGLOBINN AND RED BLOOD CELL DITRIBUTION WIDTH IN PATIENTS WITH HEART FAILURE UNDERGOING CARDIAC RESYNCHRONIZATION THERAPY124REMOTE MONITORING AND FOLLOW UP DEVICES125A 20-YEAR, SINGLE-CENTRE EXPERIENCE OF IMPLANTABLE CARDIOVERTER DEFIBRILLATORS (ICD) IN CHILDREN: TIME TO CONSIDER THE SUBCUTANEOUS ICD?126EXPERIENCE OF MAGNETIC REASONANCE IMAGING (MEI) IN PATIENTS WITH MRI CONDITIONAL DEVICES127THE SINUS BRADYCARDIA SEEN IN ATHLETES IS NOT CAUSED BY ENHANCED VAGAL TONE BUT INSTEAD REFLECTS INTRINSIC CHANGES IN THE SINUS NODE REVEALED BY I (F) BLOCKADE128SUCCESSFUL DAY-CASE PACEMAKER IMPLANTATION - AN EIGHT YEAR SINGLE-CENTRE EXPERIENCE129LEFT VENTRICULAR INDEX MASS ASSOCIATED WITH ESC HYPERTROPHIC CARDIOMYOPATHY RISK SCORE IN PATIENTS WITH ICDs: A TERTIARY CENTRE HCM REGISTRY130A DGH EXPERIENCE OF DAY-CASE CARDIAC PACEMAKER IMPLANTATION131IS PRE-PROCEDURAL FASTING A NECESSITY FOR SAFE PACEMAKER IMPLANTATION?

EP Europace ◽  
2016 ◽  
Vol 18 (suppl 2) ◽  
pp. ii36-ii47
Author(s):  
T. Philippsen ◽  
M. Orini ◽  
C.A. Martin ◽  
E. Volkova ◽  
J.O.M. Ormerod ◽  
...  

Open Heart ◽  
2021 ◽  
Vol 8 (1) ◽  
pp. e001554
Author(s):  
Laura H van Dongen ◽  
Peter P Harms ◽  
Mark Hoogendoorn ◽  
Dominic S Zimmerman ◽  
Elisabeth M Lodder ◽  
...  

IntroductionEarly recognition of individuals with increased risk of sudden cardiac arrest (SCA) remains challenging. SCA research so far has used data from cardiologist care, but missed most SCA victims, since they were only in general practitioner (GP) care prior to SCA. Studying individuals with type 2 diabetes (T2D) in GP care may help solve this problem, as they have increased risk for SCA, and rich clinical datasets, since they regularly visit their GP for check-up measurements. This information can be further enriched with extensive genetic and metabolic information.AimTo describe the study protocol of the REcognition of Sudden Cardiac arrest vUlnErability in Diabetes (RESCUED) project, which aims at identifying clinical, genetic and metabolic factors contributing to SCA risk in individuals with T2D, and to develop a prognostic model for the risk of SCA.MethodsThe RESCUED project combines data from dedicated SCA and T2D cohorts, and GP data, from the same region in the Netherlands. Clinical data, genetic data (common and rare variant analysis) and metabolic data (metabolomics) will be analysed (using classical analysis techniques and machine learning methods) and combined into a prognostic model for risk of SCA.ConclusionThe RESCUED project is designed to increase our ability at early recognition of elevated SCA risk through an innovative strategy of focusing on GP data and a multidimensional methodology including clinical, genetic and metabolic analyses.


2021 ◽  
Vol 22 (14) ◽  
pp. 7722
Author(s):  
Tiziana Ciarambino ◽  
Giovanni Menna ◽  
Gennaro Sansone ◽  
Mauro Giordano

Background: Cardiomyopathies are a heterogeneous group of pathologies characterized by structural and functional alterations of the heart. Aims: The purpose of this narrative review is to focus on the most important cardiomyopathies and their epidemiology, diagnosis, and management. Methods: Clinical trials were identified by Pubmed until 30 March 2021. The search keywords were “cardiomyopathies, sudden cardiac arrest, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy, arrhythmogenic cardiomyopathy (ARCV), takotsubo syndrome”. Results: Hypertrophic cardiomyopathy (HCM) is the most common primary cardiomyopathy, with a prevalence of 1:500 persons. Dilated cardiomyopathy (DCM) has a prevalence of 1:2500 and is the leading indication for heart transplantation. Restrictive cardiomyopathy (RCM) is the least common of the major cardiomyopathies, representing 2% to 5% of cases. Arrhythmogenic cardiomyopathy (ARCV) is a pathology characterized by the substitution of the myocardium by fibrofatty tissue. Takotsubo cardiomyopathy is defined as an abrupt onset of left ventricular dysfunction in response to severe emotional or physiologic stress. Conclusion: In particular, it has been reported that HCM is the most important cause of sudden death on the athletic field in the United States. It is needless to say how important it is to know which changes in the heart due to physical activity are normal, and when they are pathological.


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