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Total 58 results found since Jan 2013.

Implantation of a Left Ventricular Assist Device for Danon Cardiomyopathy.
We present two cases of successful implantation of an LVAD for Danon cardiomyopathy. Patient 1 was in the dilatated phase of hypertrophic cardiomyopathy (HCM) with Danon cardiomyopathy, and she underwent LVAD implantation. She is waiting for transplantation. Patient 2 had dilatated cardiomyopathy with Danon cardiomyopathy and received transplantation 990 days after LVAD implantation without myopathy or intellectual disability. PMID: 28007270 [PubMed - in process]
Source: The Annals of Thoracic Surgery - December 23, 2016 Category: Cardiovascular & Thoracic Surgery Authors: Kitahara H, Nawata K, Kinoshita O, Itoda Y, Shintani Y, Fukayama M, Ono M Tags: Ann Thorac Surg Source Type: research

Increased cardiac muscle autophagy in a child with restrictive cardiomyopathy, proximal myopathy and neuropathy due to a mutation in the BAG3 (Pro209Leu) gene
We report an 8-year-old boy with nocturnal hypoventilation since age 5 years, who underwent heart transplantation (HTX) due to severe RCM at age 7 years.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: A. Sch änzer, S. Rupp, G. Mall, H. Akintürk, D. Schramz, L. Gulatz, J. Thul, N. Mazhari, A. Hahn Source Type: research

Green tea epigallocatechin gallate enhances cardiac function restoration through survival signaling expression in diabetes mellitus rats with autologous adipose tissue-derived stem cells
The present study tests a hypothesis that cardioprotective effects mediated by autologous adipose-derived stem cells (ADSC) in rats afflicted with insulin-dependent diabetes mellitus (IDDM) may be synergistically enhanced by oral treatment with green tea epigallocatechin gallate (EGCG). Wistar rats were divided into sham, DM, DM+ADSC (autologous transplanted 1 x 106 cells per rat), and DM+ADSC+E (E, green tea oral administration EGCG). Heart tissues were isolated from all rats, and investigations were performed after 2-mo treatment. In the sham, DM, and DM+ADSC groups, we found that DM induced cardiac dysfunction (sham and...
Source: Journal of Applied Physiology - November 2, 2017 Category: Physiology Authors: Chen, T.-S., Liou, S.-Y., Kuo, C.-H., Pan, L.-F., Yeh, Y.-L., Liou, J., Padma, V. V., Yao, C.-H., Kuo, W.-W., Huang, C.-Y. Tags: RESEARCH ARTICLE Source Type: research

Heart transplantation in Danon disease: a single family displaying diverse phenotypes
Danon disease (DD) is an X-linked systemic disorder characterized by left ventricular hypertrophy, mental retardation, and skeletal myopathy.1 DD is caused by a deficiency of the lysosome-associated membrane protein (LAMP-2) which leads to an accumulation of autophagic vacuoles in skeletal and heart muscles, liver, and kidneys (Figure 1A).2 Histological analysis shows disorganized cellular architecture and hypertrophic cardiomyocytes with sarcoplasmic vacuoles. Electrocardiogram usually displays a Wolff-Parkinson-White (WPW) pre-excitation pattern.
Source: The Journal of Heart and Lung Transplantation - November 4, 2017 Category: Transplant Surgery Authors: Simon Poignant, Thierry Bourguignon, Fabien Espitalier Source Type: research

Biventricular Support With Intracorporeal, Continuous Flow, Centrifugal Ventricular Assist Devices.
CONCLUSIONS: The use of durable, intracorporeal, continuous flow centrifugal pumps for management of advanced biventricular heart failure is associated with high morbidity and mortality. Further investigation of this device configuration is warranted. PMID: 29157741 [PubMed - as supplied by publisher]
Source: The Annals of Thoracic Surgery - November 17, 2017 Category: Cardiovascular & Thoracic Surgery Authors: Arabía FA, Milano CA, Mahr C, McGee EC, Mokadam NA, Rame JE, Moriguchi JD, Ramzy D, Naftel DC, Myers SL, Kirklin JK Tags: Ann Thorac Surg Source Type: research

Biventricular Support With Intracorporeal, Continuous Flow, Centrifugal Ventricular Assist Devices
Conclusions The use of durable, intracorporeal, continuous flow centrifugal pumps for management of advanced biventricular heart failure is associated with high morbidity and mortality. Further investigation of this device configuration is warranted.
Source: The Annals of Thoracic Surgery - January 21, 2018 Category: Cardiovascular & Thoracic Surgery Source Type: research

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy
Publication date: June 2018 Source:Molecular Genetics and Metabolism Reports, Volume 15 Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub
Source: Molecular Genetics and Metabolism Reports - February 27, 2018 Category: Genetics & Stem Cells Source Type: research

A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.
In this study, we report two patients, twin sisters, referred to our hospital for end stage heart failure due to dilated cardiomyopathy, requiring heart transplant evaluation. Genetic analysis, using targeted next generation sequencing, showed that the proband carried a LAMP2 missense variant, c.928G > A. The mutation was also detected in her twin sister by sanger sequencing. This variant has already been reported by other investigators and was correlated with the clinical triad of Danon disease i.e. hypertrophic cardiomyopathy, mental retardation and peripheral myopathy. The new phenotype of dilated cardiomyopathy ...
Source: European Journal of Medical Genetics - May 10, 2018 Category: Genetics & Stem Cells Authors: Gourzi P, Pantou MP, Gkouziouta A, Kaklamanis L, Tsiapras D, Zygouri C, Constantoulakis P, Adamopoulos S, Degiannis D Tags: Eur J Med Genet Source Type: research

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy
Publication date: June 2018Source: Molecular Genetics and Metabolism Reports, Volume 15Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub
Source: Molecular Genetics and Metabolism Reports - July 6, 2018 Category: Genetics & Stem Cells Source Type: research

Heart transplantation in Danon disease: Long term single centre experience and review of the literature.
We report on long term follow up (14.7 years, IQ range 9-21 years) of 4 patients, transplanted for Danon disease cardiomyopathy, showing two LAMP-2 gene variants, the novel c.815T > C and the previously reported c.294G > A. We have also analysed previous published paper on this topic comparing available data from different follow up. Being a skeletal and cardiac muscle disease, with systemic effects, long term results about HTx are indispensable to justify any treatments in this subset of patients. PMID: 30959184 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - April 4, 2019 Category: Genetics & Stem Cells Authors: Di Nora C, Miani D, D'Elia AV, Poli S, Maria I, Nucifora G, Finato N, Sponga S, Proclemer A, Livi U Tags: Eur J Med Genet Source Type: research

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Left ventricular assist device implantation in an adult male with Danon disease
We report the case of an adult male patient with dilated-phase hypertrophic cardiomyopathy secondary to Danon disease, who received an LVAD as a bridge to transplantation.<Learning objective: Some patients with Danon disease who underwent heart transplantation have been reported in Japan, but all were female. Male patients with Danon disease have more severe systemic comorbidities than females and heart failure progression is usually too rapid for them to be listed as heart transplant candidates. We present a rare case of an adult male with Danon disease who successfully underwent implantation of a left-ventricular ass...
Source: Journal of Cardiology Cases - July 9, 2019 Category: Cardiology Source Type: research

Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results.
Authors: Palladino A, Papa AA, Morra S, Russo V, Ergoli M, Rago A, Orsini C, Nigro G, Politano L Abstract Cardiomyopathy associated with dystrophinopathies - Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-CM) and cardiomyopathy of Duchenne/Becker (DMD/BMD carriers - is an almost constant manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Dystrophinopathic cardiomyopathy is the result of the dystrophin protein deficiency at the myocardium level, parallel to that occurring at the skeletal muscle level....
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Prevalence and Outcomes of Patients with Wolff-Parkinson-White in Danon Disease: Results of a Retrospective Analysis
This study examined the prevalence of WPW and associated outcomes in a cohort of patients with Danon Disease.
Source: The Journal of Heart and Lung Transplantation - March 31, 2020 Category: Transplant Surgery Authors: M. Brooks, D. Darden, K. Hong, V. Escobedo, B. Le, C. Bougalt, E. Adler Tags: (367) Source Type: research