Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy

Rosmini, Stefania; Biagini, Elena; O’Mahony, Constantinos; Bulluck, Heerajnarain; Ruozi, Niccolò; Lopes, Luís Rocha; Guttmann, Oliver; Réant, Patricia; Quarta, Cristina; Pantazis, Antonis; Esteban, Maria Teresa Tome; McKenna, William J.; Rapezzi, Claudio; Elliott, Perry

doi:10.1136/heartjnl-2016-310138

Cited by 36 publications

(32 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…These patients are in the end stage of the disease, which is associated with rapid progression to advanced HF and cardiac death. 20,37 Interestingly, in our study, MD occurred more frequently in the mid-inferior and mid-inferolateral segments. Myocardial strain should be analyzed in patients with end-stage FD because if they have confirmed MD, they may benefit from cardiac resynchronization therapy (CRT).…”

Section: F I G U R Esupporting

confidence: 37%

Mechanical dispersion in Fabry disease assessed with speckle tracking echocardiography

et al. 2020

View full text Add to dashboard Cite

Background Fabry disease (FD) is a rare X‐linked storage disorder caused by deficiency of the lysosomal enzyme α‐galactosidase A, and it typically causes multiorgan dysfunction. The main cause of death is heart disease resulting from left ventricular (LV) diastolic dysfunction, LV systolic dysfunction, severe LV hypertrophy (LVH), and sudden death. In several cardiac disorders, LV systolic dysfunction and ventricular arrhythmias are associated with mechanical dispersion (MD). MD has until now not been studied in patients with FD. Objective To investigate the prevalence of MD in patients with FD. Methods Complete echocardiographic data and speckle tracking echocardiographic data were collected. MD is an index of inter‐segmental discoordination of contraction and is defined as the standard deviation (SD) of the time‐to‐peak longitudinal negative strain in 17 LV segments with a value >49 milliseconds. Patients with FD were divided into the following 2 groups: group I (patients with FD but no LVH, n = 64) and group II (patients with FD and LVH, n = 25). These groups were compared with a group of healthy subjects (group III, n = 50). Parametric variables were expressed as mean ± SD, and nonparametric variables were expressed as median and inter‐quartile range. A P value <.05 was considered significant. Results A total of 113 patients with FD were included in this study. Of these, 24 (21%) were excluded because of poor imaging quality or presence of comorbidities, and the final study population consisted of 89 patients (mean age of 33.5 ± 14.5 years, 64% female). Group II patients were older than group I patients (46 ± 13 years vs 27 ± 11 years, P < .0001). There was no difference in LV ejection fraction between the 3 groups. There was also no difference in MD between groups I and III (32.4 ms [26‐39] vs 32 ms [26‐39]). In group II, the MD in 19 patients (76%) was 56 ms (39‐80). Conclusions To the best of our knowledge, this is the first study to assess the prevalence of MD in patients with FD. MD was observed in 76% of patients with FD and LVH. The use of MD in strain echocardiography may be beneficial in the assessment of patients with FD who develop heart failure.

show abstract

Section: F I G U R Esupporting

confidence: 37%

Mechanical dispersion in Fabry disease assessed with speckle tracking echocardiography

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Increased levels of cardiac biomarkers (troponin T, NT‐proBNP) and higher extent of fibrosis have been associated with a reduction in LVEF during the follow‐up . Cardiac disease may progress to LV systolic dysfunction and HFrEF in 6–8% (in particular in the absence of enzyme replacement therapy) and confers a great risk of HF‐related mortality …”

Section: Heart Failure In Hypertrophic Cardiomyopathymentioning

confidence: 99%

Heart failure in cardiomyopathies: a position paper from the Heart Failure Association of the European Society of Cardiology

Seferović

Polovina

Bauersachs

et al. 2019

European J of Heart Fail

Self Cite

274

243

View full text Add to dashboard Cite

Cardiomyopathies are a heterogeneous group of heart muscle diseases and an important cause of heart failure (HF). Current knowledge on incidence, pathophysiology and natural history of HF in cardiomyopathies is limited, and distinct features of their therapeutic responses have not been systematically addressed. Therefore, this position paper focuses on epidemiology, pathophysiology, natural history and latest developments in treatment of HF in patients with dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathies. In DCM, HF with reduced ejection fraction (HFrEF) has high incidence and prevalence and represents the most frequent cause of death, despite improvements in treatment. In addition, advanced HF in DCM is one of the leading indications for heart transplantation. In HCM, HF with preserved ejection (HFpEF) affects most patients with obstructive, and ∼10% of patients with non-obstructive HCM. A timely treatment is important, since development of advanced HF, although rare in HCM, portends a poor prognosis. In RCM, HFpEF is common, while HFrEF occurs later and more frequently in amyloidosis or iron overload/haemochromatosis. Irrespective of RCM aetiology, HF is a harbinger of a poor outcome. Recent advances in our understanding of the mechanisms underlying the development of HF in cardiomyopathies have significant implications for therapeutic decision-making. In addition, new aetiology-specific treatment options (e.g. enzyme replacement therapy, transthyretin stabilizers, immunoadsorption, immunotherapy, etc.) have shown a potential to improve outcomes. Still, causative therapies of many cardiomyopathies are lacking, highlighting the need for the development of effective strategies to prevent and treat HF in cardiomyopathies.

show abstract

“…Однако в первую очередь фенокопии отличала более или менее выраженная систолическая дисфункция, не свойственная абсолютному большинству пациентов с ГКМП. Наши данные подтверждаются результатами большого сравнительного исследования 1697 пациентов, в котором систолическая дисфункция достоверно чаще регистрировалась у больных с фенокопиями ГКМП: ФВ менее 50% отмечена у 26% больных с фенокопиями в сравнении с 3% идиопатической или саркомерной ГКМП [13]. В наших группах этот показатель составил, соответственно, 53,8% и 15,8% (p<0,05).…”

Section: Syndrome Of Primary Myocardial Hypertrophyunclassified

Syndrome of Primary Myocardial Hypertrophy: Clinical and Morphological, Genetic Diagnostics and Comparison of Sarcomerial Variants of Cardiomyopathy and its Phenocopy

Благова

Zaklyazminskaya

Kogan

et al. 2019

Racionalʹnaâ farmakoterapiâ v kardiologii

View full text Add to dashboard Cite

Aim. To study the nosological spectrum in the syndrome of primary left ventricle hypertrophy (PLVH) using morphological and genetic diagnostics and to compare the clinical course of true hypertrophic cardiomyopathy (HCM) and its phenocopy.Material and methods. Fifty five adult patients (29 men, 48.2±17.0 years) with PLVH (12 mm and more) were included. The exclusion criteria were athletic heart, hypertensive heart disease, severe valvular disease and other causes of secondary left ventricle (LV) hypertrophy. We performed 11 endomyocardial biopsy, 8 intraoperative biopsy, 1 study of explanted heart, 1 autopsy with virus investigation (real-time polymerase chain reaction) of the blood and myocardium. Mutational screening had included simultaneous sequencing of the MYBPC3, TAZ, TPM1, LDB3, MYL2, ACTC1, MYL3, MYH7, TNNI3 and TNNT2 genes based on NGS technology (Ion Torrent PGMTM) with following Sanger resequencing of potentially significant genetic variants. For patients with a phenotype of particular genetic syndrome the Sanger sequencing of target gene(s) for performed first. Clinical examination had included electrocardiography, Holter monitoring, echocardiography, coronary angiography, computer tomography/magnetic resonance imaging (by indication). The mean follow-up was 8 [3;32] month.Results. Isolated HCM was found in 28 patients, and 10 have a combination of HCM and noncompaction myocardium (NCM). Mutations in the MYH7 and MYBPC3 genes were detected in six cases. In 17 cases (30.9%) the non-sarcomeric causes of LVHS were detected. Three patients had Fabry disease, 2 ‒ had Danon disease, in 10patients we found amyloidoses, in 1 – Friedreich ataxia, and 1 patient was diagnosed with LEOPARD syndrome (all cases were confirmed by DNA diagnostics). Genotype-positive diagnosis was established in 23.6% of patients. In patients with HCM were significantly more frequent asymmetric septal hypertrophy with obstruction and muscle bridges, in other forms of primary hypertrophy – right ventricular hypertrophy, low QRS voltage, QS complexes and increasing of ejection fraction (EF) (55.7±12.5% vs 62.5±10.1% in HCM, p=0.08). The morphologic signs of myocarditis were in 46.7% of patients with HCM detected: in 3 patients with NCM and in 4 patients with isolated HCM. The viral genome in the myocardium was in 11 patients with HCM (73.3%) detected, previously human herpes virus type 6 (it was correlation with myocarditis) and parvovirus B19. Eleven patients died due to a stroke/heart failure without no significant differences between patients with HCM and phenocopy.Conclusion. The spectrum of causes of the primary left ventricular hypertrophy is very wide. The frequency of myocarditis associated with sarcomeric HCM was 46.7%. When lower EF and heart failure in patients with HCM can be result of myocarditis, in patients with storage disease they are the result of disease itself.

show abstract

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy

Cited by 36 publications

References 23 publications

Mechanical dispersion in Fabry disease assessed with speckle tracking echocardiography

Mechanical dispersion in Fabry disease assessed with speckle tracking echocardiography

Heart failure in cardiomyopathies: a position paper from the Heart Failure Association of the European Society of Cardiology

Syndrome of Primary Myocardial Hypertrophy: Clinical and Morphological, Genetic Diagnostics and Comparison of Sarcomerial Variants of Cardiomyopathy and its Phenocopy

Contact Info

Product

Resources

About