scholarly journals P1602 An adult with mitochondrial cardiomyopathy

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
A Kandil ◽  
J Daniel ◽  
R Nata ◽  
P Felix
Keyword(s):  
Heart Failure ◽  
Mitochondrial Disease ◽  
Systolic Function ◽  
Mitochondrial Disorder ◽  
Severe Heart Failure ◽  
Left Ventricular ◽  
Inherited Disorders ◽  
Flow Acceleration ◽  
Mitochondrial Cardiomyopathy ◽  
Normal Systolic Function

Abstract Introduction Mitochondrial diseases are a group of rare inherited disorders with diverse phenotypes that are caused by mutation in nuclear or mitochondrial DNA. The prevalence of mitochondrial disease is estimated to be one in 5000 livebirths. The heart depends mainly on the energy produced through aerobic respiration and hence cardiac involvement is common, progressive and its presence is an independent predictor of mortality in patients with mitochondrial disease and may occur as the principal clinical manifestation or part of a multisystem disease. Case report We present a 31 years old lady who was referred to our hospital with a newly diagnosed hypertension and non-specific ECG changes. The patient had no shortness of breath, no palpitation and no chest pain. She was overweight and had short stature. Her blood pressure was elevated 155/90. There was no signs of heart failure and no murmurs on auscultation of the heart and lung. Her ECG showed sinus bradycardia 55-60 b/min, ST segment elevation in the anterior chest leads with non-specific widespread t wave inversion. An Echocardiogram was done and showed concentric left ventricular hypertrophy (LVH) at 1.5 cm with speckling and granite-like appearance of the myocardium with no LV out flow tract (LVOT) obstruction and with normal systolic function and no significant valvular disease. A cardiac MRI was done and showed mildly dilated LV with normal geometry, normal systolic function, concentric LV hypertrophy with papillary muscles hypertrophy, relative sparing of the apical segments and with no LVOT flow acceleration and no late gadolinium enhancement. Our patient had mild hearing loss which is maternally inherited with her mother and her maternal uncle had cochlear implants. She also had borderline diabetes mellitus and she was also found to have the m.3243 > G mutation suggesting a mitochondrial disorder . A diagnosis of mitochondrial cardiomyopathy was made and the patient was started on an antihypertensive and planned to have regular cardiology clinic follow up. Conclusion Hypertrophic remodelling is the dominant pattern of cardiomyopathy in all forms of mitochondrial disease; occurring in up to 40% of patients and its presence is associated with higher mortality. The severity can vary from asymptomatic as in our patient to severe heart failure with acute decompensation that can occur with metabolic disorders or general illnesses. Treatment of mitochondrial disorders is mainly symptomatic with no curative therapy available. We aimed at increasing awareness of this rare disease. Abstract P1602 Figure.

scholarly journals Echocardiographic assessment of Left Ventricular Dyssynchrony in Hypertensive Patients with Normal Systolic Function

2018 ◽  
Vol 14 (1) ◽  
pp. 58-63
Author(s):  
Marwa Tareq Mohammed
Keyword(s):  
Heart Failure ◽  
Systolic Function ◽  
Left Ventricular ◽  
Filling Pressure ◽  
Volume Index ◽  
Left Ventricular Dyssynchrony ◽  
Female Ratio ◽  
Hypertensive Patients ◽  
Ventricular Dyssynchrony ◽  
Normal Systolic Function

Background: Normal Left Ventricular systolic function is present in nearly 50% of patients with congestive heart failure, the majority of such patients have systemic hypertension. Recent studies have demonstrated Left Ventricular dyssynchrony among patients with heart failure and normal systolic function. The co-existence between Left Ventricular dyssynchrony and hypertension with normal systolic function (with no clinical evidence of heart failure) is less well understood. Objective: To assess the Left Ventricular dyssynchrony among hypertensive patients with normal systolic function by using Tissue doppler imaging.To find out the associations between the LV dyssynchrony and other global echocardiographic findings like (LA volume index, LVmassindex , LV sephericity and LV filling pressure E/E`) Type of the study: Prospective case- control study  Methods:  The study conducted in Baghdad Teaching Hospital from 1st of June 2015 to 30th of May 2016 .Study included two groups of people, 40 patients, age_ matched healthy (control) group (group1) and 60 patients with established hypertension (group 2). A Complete 2-D and TDI echocardiography studies with simultaneous ECG were performed for all patients. Examination involved LV septal and posterior wall thicknesses, internal dimensions, left atrial size, ejection fraction and tissue doppler derived waves velocities E', E/E.' Dyssynchrony was determined by measuring T-P max ( the maximal time difference from the onset of QRS to peak systolic velocity on TDI between any opposing LV wall in 3 apical views) . Results: The study included 40 age –matched control people, 27males (67.5%) and 13 females (32.5%) with a male to female ratio was 1.8 :1, ranging from (42.4-58y) with mean age was (50.2 ±7.8y ) (group 1) and 60 hypertensive patients, 38 males (63.3%) and 22 females (36.7%) with a male to female ratio was 1.7 :1, ranging from (48.5- 66.5y) with mean age of (57.5± 9.0 y) (group 2) . Left Ventricular dyssynchrony was identified in 20 of 60 patients (33.3%) .Dyssynchrony had no significant association with age and BSA. But it  was significantly associated with LA volume index (r = 0.61, p=0.001), LV mass index(r=0.52 ,p=0.001) , LV sphericity index (r= 0.5, p = 0.003) ) and LV filling pressure(r=0.6 , p value=0.001) . Dyssynchrony had significant negative correlation with ( E`) velocity (r= - 0.7 ,P =0.001) . Conclusion: Left Ventricular dyssynchrony is frequent among hypertensive patients with normal LV systolic function .The Left Ventricular dyssynchrony is significantly related to LA volume, LV mass, LV sphericity and LV filling pressure.

Abstract 5361: PDK1 Plays Crucial Roles in β-Adrenergic Response and Cell Survival in the Heart

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Kaoru Ito ◽  
Hiroshi Akazawa ◽  
Noritaka Yasuda ◽  
Haruaki Nakaya ◽  
Issei Komuro
Keyword(s):  
Heart Failure ◽  
Cardiac Function ◽  
Gene Disruption ◽  
Systolic Function ◽  
Severe Heart Failure ◽  
Left Ventricular ◽  
Cardiomyocyte Apoptosis ◽  
Adrenergic Stimulation ◽  
Human Heart Failure ◽  
Bax Protein

Background: The 3-phosphoinositide-dependent protein kinase-1 (PDK1) plays a homeostatic role in the regulation of cellular function in multiple organs, by working downstream of phosphatidylinositol-3 kinase (PI3-K) through activating several kinases including Akt and p70 S6 kinase. We found that myocardial expression of PDK1 was decreased in murine models of heart failure. Although previous studies have reported that PDK1 is important for the regulation of cardiomyocyte size, the precise role of PDK1 in the heart remains to be fully characterized. Methods and Results: To elucidate the roles of PDK1 in the postnatal heart, we generated tamoxifen-inducible heart specific PDK1 knockout (PDK1-KO) mice. Deletion of PDK1 at the age of 10 weeks caused severe heart failure. At 1 week after Pdk1 gene disruption, left ventricular systolic function was already deteriorated without reduction in cardiomyocyte size. Langendorff-perfused hearts from PDK1-KO mice exhibited impaired responsiveness to isoproterenol in spite of preserved responsiveness to forskolin. In PDK1-KO hearts, PI3-K γ activity was enhanced and the expression levels of β1-adrenergic receptor (β1AR) in membrane fraction were decreased. Overexpression of PIK-domain of PI3-K γ blocked β1AR internalization by competitively inhibiting the association between PI3-K γ and G-protein coupled receptor kinase 2, and improved cardiac function in PDK1-KO hearts. In addition, we found that cardiomyocyte apoptosis was significantly increased 1 week after Pdk1 gene disruption. PDK1-KO hearts showed reduction of Akt and SGK activities, upregulation of Bax protein and endoplasmic reticulum stress signals, which were the potential causes of cardiomyocyte apoptosis. Overexpression of Bcl-2 in PDK1-KO hearts prevented cardiomyocyte apoptosis and partially improved cardiac function in PDK1-KO mice. Conclusions : These results suggest that PDK1 is essential for normal cardiac function by not only preserving responsiveness to β-adrenergic stimulation but also preventing cardiomyocyte apoptosis. Since PDK1-KO mice reproduces many aspects of human heart failure, we propose that PDK1 may be a promising molecule targeted for the treatment of heart failure.

Abstract 815: Recovery of Heart Function in Women with Severe Heart Failure from Peripartum Cardiomyopathy in Haiti

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
James D Fett ◽  
Herriot Sannon ◽  
Emmeline Thélisma ◽  
Therese L Sprunger ◽  
Venkita Suresh
Keyword(s):  
Heart Failure ◽  
Heart Function ◽  
Systolic Function ◽  
Initial Period ◽  
Severe Heart Failure ◽  
Left Ventricular ◽  
Peripartum Cardiomyopathy ◽  
Beta Blockade ◽  
Lv Systolic Function

Peripartum cardiomyopathy (PPCM) is a form of heart failure from dilated cardiomyopathy with one of the greatest potentials for eventual full systolic function recovery. Traditional concepts of PPCM have held that if recovery did not occur by the six-month post-diagnosis mark, it would be unlikely to happen. This report shows that improvement and eventual full recovery may occur long after that initial period. PPCM patients have been identified from the Hôpital Albert Schweitzer PPCM Registry, Deschapelles, Haiti, from 2000 to 2008. All patients fully met diagnostic criteria for PPCM, which include onset of heart failure during the last month of pregnancy up to 5 months postpartum, absence of previous heart disease or other cause of heart failure, and echocardiographic criteria for systolic dysfunction. Recovery was defined as left ventricular (LV) ejection fraction (EF) greater than 50 percent. Echocardiography was carried out at initial diagnosis and at 6-month intervals, with a minimum of 24 months follow-up required for inclusion. Standard treatment included diuretics (lasix) and ACE-inhibitors (captopril), as determined by economic factors, which also excluded the routine use of beta-blockade. Thirty-two out of 116 (27.6 %) PPCM patients fully recovered LV systolic function. Mean follow-up was 35 months. The shortest time to recovery was 3 months and the longest time to recovery was 48 months. The number and cumulative percentage of recovery is shown in the following table : Table: Length of time required for recovery of left ventricular function in 32 Haitian PPCM patients, 2000–2008: Likelihood of recovery did not correlate with age (17–47 years), parity (1–10) or LV EF at diagnosis (12 to 40 %). Complete recovery of LV systolic function in PPCM often occurs after the first 6 to 12 months following diagnosis. It is important to continue treatment and follow-up sufficiently long to assure and document maximum benefit

ACCESSMENT OF RIGHT VENTRICULAR SYSTOLIC FUNCTION USING TAPSE

2011 ◽  
pp. 62-70
Author(s):  
Lien Nhut Nguyen ◽  
Anh Vu Nguyen
Keyword(s):  
Heart Failure ◽  
Left Ventricular Ejection Fraction ◽  
Ejection Fraction ◽  
Right Ventricular ◽  
Systolic Function ◽  
Systolic Heart Failure ◽  
Left Ventricular ◽  
Ventricular Ejection ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction

Background: The prognostic importance of right ventricular (RV) dysfunction has been suggested in patients with systolic heart failure (due to primary or secondary dilated cardiomyopathy - DCM). Tricuspid annular plane systolic excursion (TAPSE) is a simple, feasible, reality, non-invasive measurement by transthoracic echocardiography for evaluating RV systolic function. Objectives: To evaluate TAPSE in patients with primary or secondary DCM who have left ventricular ejection fraction ≤ 40% and to find the relation between TAPSE and LVEF, LVDd, RVDd, RVDd/LVDd, RA size, severity of TR and PAPs. Materials and Methods: 61 patients (36 males, 59%) mean age 58.6 ± 14.4 years old with clinical signs and symtomps of chronic heart failure which caused by primary or secondary DCM and LVEF ≤ 40% and 30 healthy subject (15 males, 50%) mean age 57.1 ± 16.8 were included in this study. All patients and controls were underwent echocardiographic examination by M-mode, two dimentional, convensional Dopler and TAPSE. Results: TAPSE is significant low in patients compare with the controls (13.93±2.78 mm vs 23.57± 1.60mm, p<0.001). TAPSE is linearly positive correlate with echocardiographic left ventricular ejection fraction (r= 0,43; p<0,001) and linearly negative correlate with RVDd (r= -0.39; p<0.01), RVDd/LVDd (r=-0.33; p<0.01), RA size (r=-0.35; p<0.01), TR (r=-0.26; p<0.05); however, no correlation was found with LVDd and PAPs. Conclusions: 1. Decreased RV systolic function as estimated by TAPSE in patients with systolic heart failure primary and secondary DCM) compare with controls. 2. TAPSE is linearly positive correlate with LVEF (r= 0.43; p<0.001) and linearly negative correlate with RVDd (r= -0.39; p<0.01), RVDd/LVDd (r=-0.33; p<0.01), RA size (r=-0.35; p<0.01), TR (r=-0.26; p<0.05); however, no correlation is found with LVDd and PAPs. 3. TAPSE should be used routinely as a simple, feasible, reality method of estimating RV function in the patients systolic heart failure DCM (primary and secondary).

Cardiac mitofusin-1 is declined in non-responding patients with idiopathic dilated cardiomyopathy

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
Y Hsiao ◽  
I Shimizu ◽  
T Wakasugi ◽  
S Jiao ◽  
T Watanabe ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Heart Failure ◽  
Ventricular Myocytes ◽  
Severe Heart Failure ◽  
Left Ventricular ◽  
Neonatal Rat ◽  
Heart Failure Patients ◽  
Underlying Mechanisms ◽  
Neonatal Rat Ventricular Myocytes ◽  
Mitofusin 1

Abstract Background/Introduction Mitochondria are dynamic regulators of cellular metabolism and homeostasis. The dysfunction of mitochondria has long been considered a major contributor to aging and age-related diseases. The prognosis of severe heart failure is still unacceptably poor and it is urgent to establish new therapies for this critical condition. Some patients with heart failure do not respond to established multidisciplinary treatment and they are classified as “non-responders”. The outcome is especially poor for non-responders, and underlying mechanisms are largely unknown. Purpose Studies indicate mitochondrial dysfunction has causal roles for metabolic remodeling in the failing heart, but underlying mechanisms remain to be explored. This study tried to elucidate the role of Mitofusin-1 in a failing heart. Methods We examined twenty-two heart failure patients who underwent endomyocardial biopsy of intraventricular septum. Patients were classified as non-responders when their left-ventricular (LV) ejection fraction did not show more than 10% improvement at remote phase after biopsy. Fourteen patients were classified as responders, and eight as non-responders. Electron microscopy, quantitative PCR, and immunofluorescence studies were performed to explore the biological processes or molecules involved in failure to respond. In addition to studies with cardiac tissue specific knockout mice, we also conducted functional in-vitro studies with neonatal rat ventricular myocytes. Results Twenty-two patients with IDCM who underwent endomyocardial biopsy were enrolled in this study, including 14 responders and 8 non-responders. Transmission electron microscopy (EM) showed a significant reduction in mitochondrial size in cardiomyocytes of non-responders compared to responders. Quantitative PCR revealed that transcript of mitochondrial fusion protein, Mitofusin-1, was significantly reduced in non-responders. Studies with neonatal rat ventricular myocytes (NRVMs) indicated that the beta-1 adrenergic receptor-mediated signaling pathway negatively regulates Mitofusin-1 expression. Suppression of Mitofusin-1 resulted in a significant reduction in mitochondrial respiration of NRVMs. We generated left ventricular pressure overload model with thoracic aortic constriction (TAC) in cardiac specific Mitofusin-1 knockout model (c-Mfn1 KO). Systolic function was reduced in c-Mfn1 KO mice, and EM study showed an increase in dysfunctional mitochondria in the KO group subjected to TAC. Conclusions Mitofusin-1 becomes a biomarker for non-responders with heart failure. In addition, our results suggest that therapies targeting mitochondrial dynamics and homeostasis would become next generation therapy for severe heart failure patients. Funding Acknowledgement Type of funding source: None

scholarly journals Central and obstructive apneas prevalence in heart failure with reduced, mid-range and preserved ejection fraction

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
C Borrelli ◽  
P Sciarrone ◽  
F Gentile ◽  
N Ghionzoli ◽  
G Mirizzi ◽  
...  
Keyword(s):  
Heart Failure ◽  
Ejection Fraction ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Function ◽  
Systolic Dysfunction ◽  
Cardiopulmonary Exercise Testing ◽  
Left Ventricular ◽  
Apnea Hypopnea Index ◽  
Preserved Ejection Fraction ◽  
2D Echocardiography

Abstract Background Central apneas (CA) and obstructive apneas (OA) are highly prevalent in heart failure (HF) both with reduced and preserved systolic function. However, a comprehensive evaluation of apnea prevalence across HF according to ejection fraction (i.e HF with patients with reduced, mid-range and preserved ejection fraction- HFrEf, HFmrEF and HFpEF, respectively) throughout the 24 hours has never been done before. Materials and methods 700 HF patients were prospectively enrolled and then divided according to left ventricular EF (408 HFrEF, 117 HFmrEF, 175 HFpEF). All patients underwent a thorough evaluation including: 2D echocardiography; 24-h Holter-ECG monitoring; cardiopulmonary exercise testing; neuro-hormonal assessment and 24-h cardiorespiratory monitoring. Results In the whole population, prevalence of normal breathing (NB), CA and OA at daytime was 40%, 51%, and 9%, respectively, while at nighttime 15%, 55%, and 30%, respectively. When stratified according to left ventricular EF, CA prevalence decreased from HFrEF to HFmrEF and HFpEF: (daytime CA: 57% vs. 43% vs. 42%, respectively, p=0.001; nighttime CA: 66% vs. 48% vs. 34%, respectively, p&lt;0.0001), while OA prevalence increased (daytime OA: 5% vs. 8% vs. 18%, respectively, p&lt;0.0001; nighttime OA: 20 vs. 29 vs. 53%, respectively, p&lt;0.0001). When assessing moderte-severe apneas, defined with an apnea/hypopnea index &gt;15 events/hour, prevalence of CA was again higher in HFrEF than HFmrEF and HFpEF both at daytime (daytime moderate-severe CA: 28% vs. 19% and 23%, respectively, p&lt;0.05) and at nighttime (nighttime moderate-severe CA: 50% vs. 39% and 28%, respectively, p&lt;0.05). Conversely, moderate-severe OA decreased from HFrEF to HFmrEF to HFpEF both at daytime (daytime moderate-severe OA: 1% vs. 3% and 8%, respectively, p&lt;0.05) and nighttime (noghttime moderate-severe OA: 10% vs. 11% and 30%, respectively, p&lt;0.05). Conclusions Daytime and nighttime apneas, both central and obstructive in nature, are highly prevalent in HF regardless of EF. Across the whole spectrum of HF, CA prevalence increases and OA decreases as left ventricular systolic dysfunction progresses, both during daytime and nighttime. Funding Acknowledgement Type of funding source: None

Anaemia and heart failure

Open Medicine ◽  
2011 ◽  
Vol 6 (1) ◽  
pp. 11-25
Author(s):  
Enrico Vizzardi ◽  
Tania Bordonali ◽  
Elena Tanghetti ◽  
Marco Metra ◽  
Livio Cas
Keyword(s):  
Heart Failure ◽  
Ventricular Dysfunction ◽  
Severe Heart Failure ◽  
Left Ventricular ◽  
Favourable Effect ◽  
Heart Failure Trial ◽  
Patients With Heart Failure ◽  
Darbepoetin Alpha ◽  
Main Determinants ◽  
Independent Determinant

AbstractAnaemia is one of the most frequent co-morbidities in patients with heart failure. Its prevalence increases from 4% to7% in subjects with asymptomatic left ventricular dysfunction to >30% in patients with severe heart failure. Renal insufficiency, activation of inflammatory mediators and treatment with renin-angiotensin antagonists seem to be its main determinants. The results of many studies agree in providing evidence that anaemia is a powerful independent determinant of survival in patients with heart failure. However, the mechanisms of this relation are still not fully understood. Moreover a favourable effect of the correction of anaemia on prognosis has not yet been shown. Also In addition to this, controlled studies assessing its effects on exercise tolerance have yielded controversial results. Further research is needed to assess the effect of correcting anaemia in chronic heart failure (CHF) patients; ongoing reduction of events with RED-HF (Darbepoetin alpha in heart failure) trial will help define the role.

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