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  • 1
    In: Journal of Clinical Medicine, MDPI AG, Vol. 10, No. 11 ( 2021-05-25), p. 2312-
    Abstract: Background: Patients with chronic diseases frequently adapt their lifestyles to their functional limitations. Functional capacity in Hypertrophic Cardiomyopathy (HCM) can be assessed by stress testing. We aim to review and analyze the available data from the literature on the value of Cardiopulmonary Exercise Test (CPET) in HCM. Objective measurements from CPET are used for evaluation of patient response to traditional and new developing therapeutic measurements. Methods: A systematic review of the literature was conducted in PubMed, Web of Science and Cochrane in Mar-20. The original search yielded 2628 results. One hundred and two full texts were read after the first screening, of which, 69 were included for qualitative synthesis. Relevant variables to be included in the review were set and 17 were selected, including comorbidities, body mass index (BMI), cardiac-related symptoms, echocardiographic variables, medications and outcomes. Results: Study sample consisted of 69 research articles, including 11,672 patients (48 ± 14 years old, 65.9%/34.1% men/women). Treadmill was the most common instrument employed (n = 37 studies), followed by upright cycle-ergometer (n = 16 studies). Mean maximal oxygen consumption (VO2max) was 22.3 ± 3.8 mL·kg−1·min−1. The highest average values were observed in supine and upright cycle-ergometer (25.3 ± 6.5 and 24.8 ± 9.1 mL·kg−1·min−1; respectively). Oxygen consumption in the anaerobic threshold (ATVO2) was reported in 18 publications. Left ventricular outflow tract gradient (LVOT) 〉 30 mmHg was present at baseline in 31.4% of cases. It increased to 49% during exercise. Proportion of abnormal blood pressure response (ABPRE) was higher in severe ( 〉 20 mm) vs. mild hypertrophy groups (17.9% vs. 13.6%, p 〈 0.001). Mean VO2max was not significantly different between severe vs. milder hypertrophy, or for obstructive vs. non-obstructive groups. Occurrence of arrhythmias during functional assessment was higher among younger adults (5.42% vs. 1.69% in older adults, p 〈 0.001). Twenty-three publications (9145 patients) evaluated the prognostic value of exercise capacity. There were 8.5% total deaths, 6.7% cardiovascular deaths, 3.0% sudden cardiac deaths (SCD), 1.2% heart failure death, 0.6% resuscitated cardiac arrests, 1.1% transplants, 2.6% implantable cardioverter defibrillator (ICD) therapies and 1.2 strokes (mean follow-up: 3.81 ± 2.77 years). VO2max, ATVO2, METs, % of age-gender predicted VO2max, % of age-gender predicted METs, ABPRE and ventricular arrhythmias were significantly associated with major outcomes individually. Mean VO2max was reduced in patients who reached the combined cardiovascular death outcome compared to those who survived (−6.20 mL·kg−1·min−1; CI 95%: −7.95, −4.46; p 〈 0.01). Conclusions: CPET is a valuable tool and can safely perform for assessment of physical functional capacity in patients with HCM. VO2max is the most common performance measurement evaluated in functional studies, showing higher values in those based on cycle-ergometer compared to treadmill. Subgroup analysis shows that exercise intolerance seems to be more related to age, medication and comorbidities than HCM phenotype itself. Lower VO2max is consistently seen in HCM patients at major cardiovascular risk.
    Type of Medium: Online Resource
    ISSN: 2077-0383
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2662592-1
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  • 2
    Online Resource
    Online Resource
    Ovid Technologies (Wolters Kluwer Health) ; 2009
    In:  Circulation: Cardiovascular Genetics Vol. 2, No. 5 ( 2009-10), p. 436-441
    In: Circulation: Cardiovascular Genetics, Ovid Technologies (Wolters Kluwer Health), Vol. 2, No. 5 ( 2009-10), p. 436-441
    Abstract: Background— Hypertrophic cardiomyopathy (HCM) in infants and children is thought to be commonly associated with metabolic disorders and malformation syndromes. Familial disease caused by mutations in cardiac sarcomere protein genes, which accounts for most cases in adolescents and adults, is believed to be a very rare cause of HCM. Methods and Results— Seventy-nine consecutive patients diagnosed with HCM aged 13 years or younger underwent detailed clinical and genetic evaluation. The protein-coding sequences of 9 sarcomere protein genes ( MYH7 , MYBPC3 , TNNI3 , TNNT2 , TPM1 , MYL2 , MYL3 , ACTC , and TNNC1 ), the genes encoding desmin ( DES ), and the γ-2 subunit of AMP kinase ( PRKAG2 ) were screened for mutations. A family history of HCM was present in 48 patients (60.8%). Forty-seven mutations (15 novel) were identified in 42 (53.2%) patients (5 patients had 2 mutations). The genes most commonly implicated were MYH7 (48.9%) and MYBPC3 (36.2%); mutations in TNNT2 , ACTC , MYL3 , and TNNI3 accounted for 〈 5% of cases each. A total of 16.7% patients with sarcomeric mutations were diagnosed before 1 year of age. There were no differences in clinical and echocardiographic features between those children with sarcomere protein gene mutations and those without or between patients with 2 mutations and those with 1 or no mutations. Conclusions— This study shows that familial disease is common among infants and children with HCM and that, in most cases, disease is caused by mutations in cardiac sarcomere protein genes. The major implication is that all first-degree relatives of any child diagnosed with HCM should be offered screening. Furthermore, the finding that one sixth of patients with sarcomeric disease were diagnosed in infancy suggests that current views on pathogenesis and natural history of familial HCM may have to be revised.
    Type of Medium: Online Resource
    ISSN: 1942-325X , 1942-3268
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2009
    detail.hit.zdb_id: 2927603-2
    detail.hit.zdb_id: 2457085-0
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  • 3
    Online Resource
    Online Resource
    Elsevier BV ; 2021
    In:  International Journal of Cardiology Vol. 331 ( 2021-05), p. 172-173
    In: International Journal of Cardiology, Elsevier BV, Vol. 331 ( 2021-05), p. 172-173
    Type of Medium: Online Resource
    ISSN: 0167-5273
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2021
    detail.hit.zdb_id: 1500478-8
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  • 4
    Online Resource
    Online Resource
    Elsevier BV ; 2013
    In:  Revista Española de Cardiología Vol. 66, No. 2 ( 2013-2), p. 83-84
    In: Revista Española de Cardiología, Elsevier BV, Vol. 66, No. 2 ( 2013-2), p. 83-84
    Type of Medium: Online Resource
    ISSN: 0300-8932
    Language: Spanish
    Publisher: Elsevier BV
    Publication Date: 2013
    detail.hit.zdb_id: 2136443-6
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  • 5
    Online Resource
    Online Resource
    Elsevier BV ; 2011
    In:  Revista Española de Cardiología Vol. 64, No. 9 ( 2011-09), p. 797-808
    In: Revista Española de Cardiología, Elsevier BV, Vol. 64, No. 9 ( 2011-09), p. 797-808
    Type of Medium: Online Resource
    ISSN: 0300-8932
    Language: Spanish
    Publisher: Elsevier BV
    Publication Date: 2011
    detail.hit.zdb_id: 2136443-6
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  • 6
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2012
    In:  Herzschrittmachertherapie + Elektrophysiologie Vol. 23, No. 3 ( 2012-9), p. 174-185
    In: Herzschrittmachertherapie + Elektrophysiologie, Springer Science and Business Media LLC, Vol. 23, No. 3 ( 2012-9), p. 174-185
    Type of Medium: Online Resource
    ISSN: 0938-7412 , 1435-1544
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2012
    detail.hit.zdb_id: 1473154-X
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  • 7
    In: Heart, BMJ, Vol. 106, No. 14 ( 2020-07), p. 1059-1065
    Abstract: Distinguishing early dilated cardiomyopathy (DCM) from physiological left ventricular (LV) dilatation with LV ejection fraction 〈 55% in athletes (grey zone) is challenging. We evaluated the role of a cascade of investigations to differentiate these two entities. Methods Thirty-five asymptomatic active males with DCM, 25 male athletes in the ‘grey zone’ and 24 male athletes with normal LV ejection fraction underwent N-terminal pro-brain natriuretic peptide (NT-proBNP) measurement, ECG and exercise echocardiography. Grey-zone athletes and patients with DCM underwent cardiovascular magnetic resonance (CMR) and Holter monitoring. Results Larger LV cavity dimensions and lower LV ejection fraction were the only differences between grey-zone and control athletes. None of the grey-zone athletes had abnormal NT-proBNP, increased ectopic burden/complex arrhythmias or pathological late gadolinium enhancement on CMR. These features were also absent in 71%, 71% and 50% of patients with DCM, respectively. 95% of grey-zone athletes and 60% of patients with DCM had normal ECG. During exercise echocardiography, 96% grey-zone athletes increased LV ejection fraction by 〉 11% from baseline to peak exercise compared with 23% of patients with DCM (p 〈 0.0001). Peak LV ejection fraction was 〉 63% in 92% grey-zone athletes compared with 17% patients with DCM (p 〈 0.0001). Failure to increase LV ejection fraction 〉 11% from baseline to peak exercise or achieve a peak LV ejection fraction 〉 63% had sensitivity of 77% and 83%, respectively, and specificity of 96% and 92%, respectively, for predicting DCM. Conclusion Comprehensive assessment using a cascade of routine investigations revealed that exercise stress echocardiography has the greatest discriminatory value in differentiating between grey-zone athletes and asymptomatic patients with DCM. Our findings require validation in larger studies.
    Type of Medium: Online Resource
    ISSN: 1355-6037 , 1468-201X
    Language: English
    Publisher: BMJ
    Publication Date: 2020
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    detail.hit.zdb_id: 1475501-4
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  • 8
    Online Resource
    Online Resource
    Elsevier BV ; 2020
    In:  Journal of the American College of Cardiology Vol. 75, No. 11 ( 2020-03), p. 1614-
    In: Journal of the American College of Cardiology, Elsevier BV, Vol. 75, No. 11 ( 2020-03), p. 1614-
    Type of Medium: Online Resource
    ISSN: 0735-1097
    RVK:
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2020
    detail.hit.zdb_id: 1468327-1
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  • 9
    In: JAMA Cardiology, American Medical Association (AMA), Vol. 8, No. 6 ( 2023-06-01), p. 595-
    Abstract: Whether vigorous intensity exercise is associated with an increase in risk of ventricular arrhythmias in individuals with hypertrophic cardiomyopathy (HCM) is unknown. Objective To determine whether engagement in vigorous exercise is associated with increased risk for ventricular arrhythmias and/or mortality in individuals with HCM. The a priori hypothesis was that participants engaging in vigorous activity were not more likely to have an arrhythmic event or die than those who reported nonvigorous activity. Design, Setting, and Participants This was an investigator-initiated, prospective cohort study. Participants were enrolled from May 18, 2015, to April 25, 2019, with completion in February 28, 2022. Participants were categorized according to self-reported levels of physical activity: sedentary, moderate, or vigorous-intensity exercise. This was a multicenter, observational registry with recruitment at 42 high-volume HCM centers in the US and internationally; patients could also self-enroll through the central site. Individuals aged 8 to 60 years diagnosed with HCM or genotype positive without left ventricular hypertrophy (phenotype negative) without conditions precluding exercise were enrolled. Exposures Amount and intensity of physical activity. Main Outcomes and Measures The primary prespecified composite end point included death, resuscitated sudden cardiac arrest, arrhythmic syncope, and appropriate shock from an implantable cardioverter defibrillator. All outcome events were adjudicated by an events committee blinded to the patient’s exercise category. Results Among the 1660 total participants (mean [SD] age, 39 [15] years; 996 male [60%]), 252 (15%) were classified as sedentary, and 709 (43%) participated in moderate exercise. Among the 699 individuals (42%) who participated in vigorous-intensity exercise, 259 (37%) participated competitively. A total of 77 individuals (4.6%) reached the composite end point. These individuals included 44 (4.6%) of those classified as nonvigorous and 33 (4.7%) of those classified as vigorous, with corresponding rates of 15.3 and 15.9 per 1000 person-years, respectively. In multivariate Cox regressi on analysis of the primary composite end point, individuals engaging in vigorous exercise did not experience a higher rate of events compared with the nonvigorous group with an adjusted hazard ratio of 1.01. The upper 95% 1-sided confidence level was 1.48, which was below the prespecified boundary of 1.5 for noninferiority. Conclusions and Relevance Results of this cohort study suggest that among individuals with HCM or those who are genotype positive/phenotype negative and are treated in experienced centers, those exercising vigorously did not experience a higher rate of death or life-threatening arrhythmias than those exercising moderately or those who were sedentary. These data may inform discussion between the patient and their expert clinician around exercise participation.
    Type of Medium: Online Resource
    ISSN: 2380-6583
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2023
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  • 10
    In: Heart, BMJ, Vol. 106, No. 19 ( 2020-10), p. 1532.2-1533
    Type of Medium: Online Resource
    ISSN: 1355-6037 , 1468-201X
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 2378689-9
    detail.hit.zdb_id: 1475501-4
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