Paediatric dilated cardiomyopathy with and without endocardial fibroelastosis – a pathological analysis of 89 explants

2021 ◽  
pp. 1-7
Author(s):  
Jeanette A. Reyes ◽  
Anne I. Dipchand ◽  
David A. Chiasson
Keyword(s):  
Dilated Cardiomyopathy ◽  
Prognostic Significance ◽  
Age Groups ◽  
Pathological Finding ◽  
Fold Increase ◽  
Left Ventricular ◽  
Endocardial Fibroelastosis ◽  
Left Ventricular Chamber ◽  
Pathology Reports ◽  
Compare And Contrast

Abstract Heart failure due to dilated cardiomyopathy is a major indication for paediatric cardiac transplantation. Endocardial fibroelastosis is a recognised pathological finding of unknown prognostic significance in paediatric dilated cardiomyopathy. To evaluate the nature of the association between left ventricular endocardial fibroelastosis and paediatric dilated cardiomyopathy, we reviewed surgical pathology reports of dilated cardiomyopathy explants (1986–2016) in order to characterise the pathological findings and to compare and contrast their frequency among four age groups: less than 1 year; 1–5 years; 6–10 years; and greater than 11 years. The 89 explants (47 males and 42 females) were all characterised by increased weight and left ventricular chamber dilatation without increased wall thickness. Ninety-five per cent of the specimens in the two youngest subsets had left ventricular endocardial fibroelastosis. Compared to the oldest age group, recipients aged 1–5 years had a 6-fold increase and those younger than 1 year a 19-fold increase in the odds of observing left ventricular endocardial fibroelastosis. Explants with and without endocardial fibroelastosis were otherwise phenotypically similar. In paediatric dilated cardiomyopathy endocardial fibroelastosis is a very common pathological finding, especially in infants and young children. We propose that the descriptive, clinico-pathological designation “Dilated Cardiomyopathy with Endocardial Fibroelastosis” should be adopted to facilitate future investigation into the potential prognostic/therapeutic significance of left ventricular endocardial fibroelastosis.

Left Ventricular Chamber Function During Inhaled Nitric Oxide in Patients with Dilated Cardiomyopathy

1999 ◽  
Vol 34 (5) ◽  
pp. 749-754 ◽  
Author(s):  
Christopher S. Hayward ◽  
Wally V. Kalnins ◽  
Peter Rogers ◽  
Michael P. Feneley ◽  
Peter S. Macdonald ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Inhaled Nitric Oxide ◽  
Left Ventricular Chamber

Prognostic significance of longitudinal strain in dilated cardiomyopathy with recovered ejection fraction

Heart ◽  
2021 ◽  
pp. heartjnl-2021-319504
Author(s):  
Marco Merlo ◽  
Marco Masè ◽  
Andrew Perry ◽  
Eluisa La Franca ◽  
Elena Deych ◽  
...  
Keyword(s):  
Ejection Fraction ◽  
Dilated Cardiomyopathy ◽  
Longitudinal Strain ◽  
Global Longitudinal Strain ◽  
Prognostic Significance ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Risk Of Death

ObjectivePatients with non-ischaemic dilated cardiomyopathy (NICM) may experience a normalisation in left ventricular ejection fraction (LVEF). Although this correlates with improved prognosis, it does not correspond to a normalisation in the risk of death during follow-up. Currently, there are no tools to risk stratify this population. We tested the hypothesis that absolute global longitudinal strain (aGLS) is associated with mortality in patients with NICM and recovered ejection fraction (LVEF).MethodsWe designed a retrospective, international, longitudinal cohort study enrolling patients with NICM with LVEF <40% improved to the normal range (>50%). We studied the relationship between aGLS measured at the time of the first recording of a normalised LVEF and all-cause mortality during follow-up. We considered aGLS >18% as normal and aGLS ≥16% as of potential prognostic value.Results206 patients met inclusion criteria. Median age was 53.5 years (IQR 44.3–62.8) and 56.6% were males. LVEF at diagnosis was 32.0% (IQR 24.0–38.8). LVEF at the time of recovery was 55.0% (IQR 51.7–60.0). aGLS at the time of LVEF recovery was 13.6%±3.9%. 166 (80%) and 141 (68%) patients had aGLS ≤18% and <16%, respectively. During a follow-up of 5.5±2.8 years, 35 patients (17%) died. aGLS at the time of first recording of a recovered LVEF correlated with mortality during follow-up (HR 0.90, 95% CI 0.91 to 0.99, p=0.048 in adjusted Cox model). No deaths were observed in patients with normal aGLS (>18%). In unadjusted Kaplan-Meier survival analysis, aGLS <16% was associated with higher mortality during follow-up (31 deaths (22%) in patients with GLS <16% vs 4 deaths (6.2%) in patients with GLS ≥16%, HR 3.2, 95% CI 1.1 to 9, p=0.03).ConclusionsIn patients with NICM and normalised LVEF, an impaired aGLS at the time of LVEF recovery is frequent and associated with worse outcomes.

scholarly journals Dilated cardiomyopathy with endocardial fibroelastosis in a juvenile Pallas cat

2019 ◽  
Vol 31 (2) ◽  
pp. 289-293 ◽  
Author(s):  
Erwin K. Gudenschwager ◽  
Jonathan A. Abbott ◽  
Tanya LeRoith
Keyword(s):  
Dilated Cardiomyopathy ◽  
Myocardial Dysfunction ◽  
Interventricular Septum ◽  
Left Ventricular ◽  
Endocardial Fibroelastosis ◽  
Moderate Amount ◽  
Echocardiographic Evaluation ◽  
Left Ventricular Dilation ◽  
Cardiac Lesions ◽  
Coronary Blood Vessels

Dilated cardiomyopathy (DCM) is a myocardial disease characterized by ventricular chamber dilation associated with systolic myocardial dysfunction in the absence of other cardiac lesions. DCM occasionally develops in conjunction with proliferation of fibroelastic fibers in the endocardium, producing endocardial fibroelastosis (EFE). Although early reports describe EFE as a primary disease, evidence now suggests that EFE may develop as a response to myocardial dysfunction. Echocardiographic evaluation of a 4-wk-old Pallas cat ( Otocolobus manul) with respiratory distress revealed enlargement of both atria, enlarged end-systolic left ventricular dimension, and left ventricular dilation. DCM was diagnosed, and the cat was euthanized, given the poor prognosis. Postmortem examination revealed pericardial effusion and biventricular and biatrial enlargement. The interventricular septum and free walls of ventricles were thin. Histologically, the endocardium of the left and right ventricles was diffusely thickened; Verhoeff–Van Gieson staining of the left ventricular endocardium revealed a moderate amount of endocardial accumulation of elastin and collagen. These fibers were more prominent in papillary muscles and around coronary blood vessels. Based on these findings, we diagnosed DCM with EFE. Cardiac diseases are rarely diagnosed in wild felids.

scholarly journals Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy – a pilot study

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Elena Zaklyazminskaya ◽  
Vadim Mikhailov ◽  
Anna Bukaeva ◽  
Natalia Kotlukova ◽  
Inna Povolotskaya ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Dilated Cardiomyopathy ◽  
Mutation Rate ◽  
Molecular Genetic ◽  
Prognostic Significance ◽  
Age Groups ◽  
Idiopathic Dilated Cardiomyopathy ◽  
Illumina Platform ◽  
Whole Exome ◽  
Inherited Mutations

Abstract Idiopathic dilated cardiomyopathy (DCM) is a common cardiomyopathy with the prevalence of 1:250, and at least one-third of all the cases are inherited. Mutations in the TTN gene are considered as the most frequent cause of inherited DCM and cover 10–30% of the cases. The studies were mainly focused on the adult or mixed age group of patients with DCM. The mutation rate in the TTN gene, the characteristics of manifestations and their prognostic significance in childhood have not been studied. To determine TTN mutation rate in children with DCM and the relevance of including this gene in the DNA diagnostic protocol for paediatric DCM, complete clinical and instrumental examination of 36 DCM patients (up to 18 years) with the manifestation of the disease was conducted in specialised cardiology centres. Molecular genetic testing included sequencing of coding and adjacent regulatory regions of the major cardiac TTN isoform N2BA using IonTorrent ™ semiconductor sequencing (for 25 isolated cases) and trio whole exome sequencing (trio WES)on the Illumina platform (for 11 family cases). Our pilot group included 36 probands with DCM diagnosis first established on the basis of the generally accepted criteria at the age of 5 days to 18 years(average age: 6.5 years). The sex ratio (M:F) was 23: 8. There were 25 sporadic DCM cases and 11 cases of familial DCM (at least one of the parents and/or siblings were also diagnosed with DCM). The only likely pathogenic truncating variant p.Arg33703*in the TTN gene (TTNtv) was found in a 16-year-oldmale proband out of 36 (3%). Apparently, TTN-dependent forms of DCMs manifest later at a young (but older than 18 years) or more mature age, and TTN gene cannot be considered as the first-line genetic testing for DCM in the paediatric group, despite several studies have reported a generally high mutation rate in this gene with DCM. Further research is needed to compare the representation of mutations in the TTN gene in different age groups of DCM patients.

scholarly journals INDICATIONS FOR IMPLANTATION AND EFFICIENCY OF CARDIOVERTER-DEFIBRILLATORS IN PATIENTS WITH DILATED CARDIOMYOPATHY

2019 ◽  
Vol 34 (2) ◽  
pp. 54-62
Author(s):  
E. A. Solovyeva ◽  
O. V. Blagova ◽  
V. P. Sedov ◽  
E. A. Kogan ◽  
E. V. Zaklyazminskaya
Keyword(s):  
Dilated Cardiomyopathy ◽  
Comparison Group ◽  
Prognostic Significance ◽  
Selection Criterion ◽  
Total Mortality ◽  
Left Ventricular ◽  
Cardiac Resynchronization ◽  
Appropriate Shocks ◽  
The Impact ◽  
Cardioverter Defibrillators

Purpose. To assess the frequency and predictors of appropriate shocks of cardioverter-defibrillators in patients with dilated cardiomyopathy (DCM) syndrome and the impact on the total mortality and sudden cardiac death (SCD).Material and Methods. A total of 275 patients with DCM syndrome (average age of 46.8 ± 12.5 years; 185 males and 90 females) were observed. Inclusion criteria were left ventricular (LV) end-diastolic diameter (EDD) more than 5.5 cm and LV ejection fraction (EF) less than 50%. Patients with coronary artery stenosis more than 50% were excluded. Implantable cardioverter-defibrillator (ICD) (n=44) and cardiac resynchronization therapy defibrillator (CRT-D) (n=32) were implanted in 76 (27.6%) patients (53 males and 23 females, average age of 48.9±12.9 years, LV EDD of 6.7±0.8 cm, and LV EF of 28.2±9.9%). A comparison group comprised 199 patients (72.4%) without devices (132 males and 67 females, average age of 46.0±12.3 years, LV EDD of 6.5±0.8 cm, and LV EF of 32.0±10.2%). The average follow-up was 27 (24; 30) months.Results. SCD in patients with DCM syndrome was recorded in 2.9% of cases; the total mortality rate was 18.9%; the rate of death + transplantation was 22.6%. The SCD, total mortality, and death+transplantation rates were 2.6% (4.6/0%), 23.7% (22.7/25.0%), and 32.9% (34.1/31.3%) in patients with devices (ICD/CRT-D) and 3.0%, 17.1%, and 16.6% in patients without devices, respectively. The rate of SCD+appropriate shocks (ASR) was significantly higher in study group: 26.3 vs 3.0% in comparison group (p<0.001). The nature of DCM syndrome was predominantly inflammatory (53%), primary (genetic) (19.6%), and multifactorial (25.1%). Genetic forms of DCM were represented by non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (ARVC), myopathies, and amyloidosis. The pathogenic mutations in the genes LMNA (n=1), DES (n=2), DSP (n=2), EMD (n=2), PKP2 (n=1), TTR (n=1), MUH7+MyBPC3 (n=1), and MyBPC3 (n=4) were detected. The ASR (ICD/CRT-D) rate was 23.7% (n=13/5). The only reliable predictor of ASR was the generic nature of DCM syndrome, identified in 100% of patients with shocks (in the presence of myocarditis in 77.8%/isolated in 22.2%) in comparison with 51.7% (29.3/22.4%) in patients without ASR (p<0.002, AUC 0.747, RR 1.66, 95% CI 0.711-3.885). Ventricular tachycardia (VT) was registered in 84% of patients with shocks (stable/unstable VT rates of 17/67%) vs 1.7/72%, in patients without shocks (р=0.06). In patients with shocks, low QRS voltage (39 vs 6.9%, р<0.05) and the absence of LV hypertrophy signs on the ECG (77.6 vs 58.6%, р>0.05) were registered more often. The average LV EF was higher in patients with ASR (34.4±9.7%) in comparison with patients without ASR (25.9±8.8%), р<0.005. Conclusions. The genetic nature of DCM syndrome is an important predictor of appropriate shocks and an independent selection criterion for ICD/CRT-D implantation. Age, NYHA class, and LV EF did not show prognostic significance. Additional predictors of appropriate shocks were sustained/unsustained VT, low QRS voltage, and the absence of LV hypertrophy signs on the ECG. 

scholarly journals Clinical and Prognostic Significance of Idiopathic Left Bundle-Branch Block in Young Adults

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Pietro Delise ◽  
Luigi Rivetti ◽  
Giuseppe Poletti ◽  
Monica Centa ◽  
Giuseppe Allocca ◽  
...  
Keyword(s):  
Young Adults ◽  
Heart Disease ◽  
Coronary Angiography ◽  
Obstructive Coronary Artery Disease ◽  
Prognostic Significance ◽  
Age Groups ◽  
Late Enhancement ◽  
Left Ventricular ◽  
Left Ventricular Dyssynchrony

Aims. LBBB is rare in healthy young adults, and its long-term prognosis is uncertain. Methods. 56 subjects (aged <50 years), in whom an LBBB was discovered by chance in the absence of clinical and echocardiographic evidence of heart disease, were collected in a multicenter registry. Results. 69% were males. Mean age at the time of discovery of LBBB was 37 ± 11 years. Mean QRS duration was 149 ± 17 m sec and 35% had left axis deviation. All patients had a normal echocardiogram, except for left ventricular dyssynchrony; 37 patients underwent coronary angiography (30) or myocardial scintigraphy during effort Eriksson and Wilhelmsen (2005), and in all cases obstructive coronary artery disease was excluded. In 2/30 patients who underwent coronary angiography, an anomalous origin of the CX artery from the right coronary sinus was found. Thirty patients underwent cardiac magnetic resonance; in 60% it was normal, while in 40% it revealed late enhancement, which in 33% was localized in the basal septum, suggesting fibrosis of the left bundle branch. During follow-up (12+/10 years, median 10 years) no sudden death occurred. At the end of follow-up, all patients were alive, except for one who suffered accidental death. Two patients (3.5%) underwent PM implantation owing to syncope. The echocardiogram at the end of follow-up revealed LV dysfunction in only one patient. Conclusions. In young adults without apparent heart disease, LBBB is a heterogeneous condition. In the vast majority of cases, the prognosis is good and no ventricular dysfunction occurs over time. However, as only 18% of our patients were aged >60 years at the end of follow-up, we cannot establish the prognosis in older age-groups.

Sign in / Sign up

Export Citation Format

Share Document