scholarly journals Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure

2021 ◽  
Author(s):  
Tsunenori Saito ◽  
Naoko Saito Sato ◽  
Kosuke Mozawa ◽  
Akiko Adachi ◽  
Yoshihiro Sasaki ◽  
...  
Keyword(s):  
Heart Failure ◽  
Genetic Testing ◽  
Dilated Cardiomyopathy ◽  
Myocardial Ultrastructure

scholarly journals A case report: X-linked dystrophin gene mutation causing severe isolated dilated cardiomyopathy

2019 ◽  
Vol 3 (2) ◽  
Author(s):  
Geoffrey Lester ◽  
Giuseppe Femia ◽  
Julian Ayer ◽  
Rajesh Puranik
Keyword(s):  
Heart Failure ◽  
Skeletal Muscle ◽  
Genetic Testing ◽  
Dilated Cardiomyopathy ◽  
Cardiac Muscle ◽  
Gene Mutation ◽  
Cardiac Transplantation ◽  
Dystrophin Gene ◽  
Left Ventricular ◽  
Definitive Treatment

Abstract Background  X-linked dilated cardiomyopathy (XLDCM) is a rare but rapidly progressive cardiomyopathy caused by dystrophin gene mutation. Mutations are more often associated with Duchenne and Becker Muscular Dystrophy, which are characterized by skeletal muscle weakness or limb girdle dystrophy. However, patients with isolated XLDCM have normal skeletal muscle but complete dystrophin loss in cardiac muscle resulting in isolated myocardial involvement without overt signs of skeletal myopathy. Case summary  A previously well 16-year-old boy developed sudden onset dense left-sided weakness and facial droop. Computed tomography (CT) angiography and CT brain showed an occluded right internal carotid artery extending to the right middle cerebral artery. He underwent successful endovascular clot retrieval but developed frank pulmonary oedema and cardiogenic shock requiring inotropic support and intubation. Transthoracic echocardiography demonstrated severe left ventricular (LV) cardiomyopathy and an apical thrombus. Subsequent cardiac magnetic resonance (CMR) imaging confirmed the LV parameters and diffuse late gadolinium enhancement. Despite absence of skeletal manifestations, subsequent genetic testing revealed an X-linked dystrophin gene mutation [c.31+G>T (IVS1G>T)]. He was commenced on empirical heart failure therapy and underwent successful cardiac transplantation. Discussion  X-linked dilated cardiomyopathy is a rare, rapidly progressing cardiomyopathy. Patients show normal skeletal muscle dystrophin but absent expression in cardiac muscle, resulting fibrosis, and atrophy. About 20% of affected young males have significantly reduced survival and thus the diagnosis must be considered in cases of idiopathic cardiomyopathy with CMR and genetic testing key to the diagnosis. Whilst evidence exists for empirical heart failure medications, cardiac transplantation remains the definitive treatment.

Myocardial Blood Flow Response to Pacing Tachycardia and to Dipyridamole Infusion in Patients With Dilated Cardiomyopathy Without Overt Heart Failure

Circulation ◽  
1995 ◽  
Vol 92 (4) ◽  
pp. 796-804 ◽  
Author(s):  
Danilo Neglia ◽  
Oberdan Parodi ◽  
Michela Gallopin ◽  
Gianmario Sambuceti ◽  
Assuero Giorgetti ◽  
...  
Keyword(s):  
Heart Failure ◽  
Blood Flow ◽  
Myocardial Blood Flow ◽  
Dilated Cardiomyopathy ◽  
Blood Flow Response ◽  
Flow Response

scholarly journals Homogeneous 2D and 3D alignment of cardiomyocyte in dilated cardiomyopathy revealed by intravital heart imaging

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Kiyoshi Masuyama ◽  
Tomoaki Higo ◽  
Jong-Kook Lee ◽  
Ryohei Matsuura ◽  
Ian Jones ◽  
...  
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Cardiac Dysfunction ◽  
Three Dimensional ◽  
Single Layer ◽  
Specific Pattern ◽  
Two Dimensional ◽  
Heart Imaging ◽  
Novel Method ◽  
2D And 3D

AbstractIn contrast to hypertrophic cardiomyopathy, there has been reported no specific pattern of cardiomyocyte array in dilated cardiomyopathy (DCM), partially because lack of alignment assessment in a three-dimensional (3D) manner. Here we have established a novel method to evaluate cardiomyocyte alignment in 3D using intravital heart imaging and demonstrated homogeneous alignment in DCM mice. Whilst cardiomyocytes of control mice changed their alignment by every layer in 3D and position twistedly even in a single layer, termed myocyte twist, cardiomyocytes of DCM mice aligned homogeneously both in two-dimensional (2D) and in 3D and lost myocyte twist. Manipulation of cultured cardiomyocyte toward homogeneously aligned increased their contractility, suggesting that homogeneous alignment in DCM mice is due to a sort of alignment remodelling as a way to compensate cardiac dysfunction. Our findings provide the first intravital evidence of cardiomyocyte alignment and will bring new insights into understanding the mechanism of heart failure.

Long-term follow-up of cardiac resynchronization therapy patients with non-ischemic dilated cardiomyopathy assessed by radionuclide angiography

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
C Valzania ◽  
R Bonfiglioli ◽  
F Fallani ◽  
J Frisoni ◽  
M Biffi ◽  
...  
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Radionuclide Angiography ◽  
Cardiac Resynchronization ◽  
Resynchronization Therapy ◽  
Long Term Follow Up ◽  
Non Ischemic Dilated Cardiomyopathy ◽  
Lv Ejection Fraction

Abstract Background While the beneficial effects of cardiac resynchronization therapy (CRT) have been widely investigated soon after CRT implantation, relatively few data are available on long-term clinical outcomes of CRT recipients. Aim To investigate long-term outcomes of CRT patients with non-ischemic dilated cardiomyopathy stratified as responders and non-responders according to radionuclide angiography. Methods Consecutive heart failure patients with non-ischemic dilated cardiomyopathy undergoing CRT implantation at our University Hospital between 2007 and 2013 were enrolled. All patients were assessed with equilibrium Tc99 radionuclide angiography at baseline and after 3 months of CRT. Left ventricular (LV) ejection fraction was computed on the basis of relative end-diastolic and end-systolic counts, and intraventricular dyssynchrony was derived by Fourier phase analysis. Response to CRT was defined by an absolute increase in LV ejection fraction (LVEF) ≥5% at 3-month follow-up. Clinical outcome was assessed after 10 years through hospital records review. Results Forty-seven patients (83% men, 63±11 years) were included in the study. At 3 months, 25 (53%) patients were identified as CRT responders according to LVEF increase (from 26±8 to 38±12%, p<0.001). In these patients, LV dyssynchrony decreased from 59±30° to 29±18° (p<0.001). Twenty-two (47%) patients were defined as non-responders. No significant changes in LVEF and LV dyssynchrony (50±30° vs. 38±19°, p=0.07) were observed in non-responders. At long-term follow-up (11±2 years), all-cause and cardiac mortality rates were 24% and 12% in responders vs. 32% and 27% in non-responders, respectively (p=ns). Heart transplantation was performed in 3 patients. One (4%) patient among CRT responders compared with 6 (27%) patients among non-responders died of worsening heart failure (p=0.03). Conclusions Although late overall mortality of non-ischemic CRT recipients was not significantly different between mid-term responders and non-responders, CRT responders were at lower risk of worsening heart failure death. Funding Acknowledgement Type of funding source: None

scholarly journals Temporal trends in outcome and patient characteristics in dilated cardiomyopathy, data from the Swedish Heart Failure Registry 2003–2015

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Helen Sjöland ◽  
Jonas Silverdal ◽  
Entela Bollano ◽  
Aldina Pivodic ◽  
Ulf Dahlström ◽  
...  
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Temporal Trends ◽  
Physical Symptoms ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Continuous Change ◽  
Ventricular Ejection Fraction ◽  
Increased Risk ◽  
Over Time

Abstract Background Temporal trends in clinical composition and outcome in dilated cardiomyopathy (DCM) are largely unknown, despite considerable advances in heart failure management. We set out to study clinical characteristics and prognosis over time in DCM in Sweden during 2003–2015. Methods DCM patients (n = 7873) from the Swedish Heart Failure Registry were divided into three calendar periods of inclusion, 2003–2007 (Period 1, n = 2029), 2008–2011 (Period 2, n = 3363), 2012–2015 (Period 3, n = 2481). The primary outcome was the composite of all-cause death, transplantation and hospitalization during 1 year after inclusion into the registry. Results Over the three calendar periods patients were older (p = 0.022), the proportion of females increased (mean 22.5%, 26.4%, 27.6%, p = 0.0001), left ventricular ejection fraction was higher (p = 0.0014), and symptoms by New York Heart Association less severe (p < 0.0001). Device (implantable cardioverter defibrillator and/or cardiac resynchronization) therapy increased by 30% over time (mean 11.6%, 12.3%, 15.1%, p < 0.0001). The event rates for mortality, and hospitalization were consistently decreasing over calendar periods (p < 0.0001 for all), whereas transplantation rate was stable. More advanced physical symptoms correlated with an increased risk of a composite outcome over time (p = 0.0043). Conclusions From 2003 until 2015, we observed declining mortality and hospitalizations in DCM, paralleled by a continuous change in both demographic profile and therapy in the DCM population in Sweden, towards a less affected phenotype.

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