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Condition: Cardiomyopathy
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Total 870 results found since Jan 2013.
Genes, Vol. 14, Pages 1539: Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation & mdash;Case Report and Review of the Literature
This report describes a 42-year-old father and his 3-year-old daughter presenting with mild manifestations of the disease. The father has normal intellectual development and normal physical activity. At the age of 13, he was diagnosed with mild ventricular pre-excitation known as Wolf–Parkinson–White syndrome (WPWs), very mild and mostly asymptomatic cardiomyopathy and left ventricular hypertrophy, and at about the age of 25 presented with visual impairment due to cone–rod dystrophy. His daughter showed normal development and very mild asymptomatic electrocardiographic WPWs abnorma...
Source: Genes - July 27, 2023 Category: Genetics & Stem Cells Authors: Adel Shalata Marina Bar-Shai Yarin Hadid Muhammad Mahroum Hila Mintz Zaher Eldin Shalata Evgeny Radzishevsky Jacob Genizi Avraham Lorber Tamar Ben-Yosef Liat Yaniv Tags: Article Source Type: research
The association between C-peptide and atrial cardiomyopathy in nondiabetic adults: results from NHANES III
AbstractSerum C-peptide exhibits various biological activities. The relationship between C-peptide and atrial cardiomyopathy remains unknown. We aimed to investigate the association between C-peptide level and atrial cardiomyopathy in nondiabetic adults. Our study enrolled 4578 participants without diagnosed diabetes from the Third National Health and Nutrition Examination Survey (NHANES III). Atrial cardiomyopathy was defined as a deep terminal negative P wave in V1 below − 100 µV (more negative), according to the electrocardiogram. The participants were categorized into low C-peptide (≤ 1.46 nmol/L) and high C-...
Source: Heart and Vessels - July 15, 2023 Category: Cardiology Source Type: research
Mitochondrial encephalopathy with lactic-acidosis and stroke-like episodes syndrome presenting as progressive supranuclear palsy
Clinical manifestations of MELAS are broad and include stroke-like episodes, myopathy, cardiomyopathy, headaches, hearing impairment, dementia, epilepsy, lactic acidemia, cyclic vomiting, diabetes, and short stature. Most cases of MELAS present early in childhood, with only 1 –6% presenting after the age of 40 [1]. Progressive supranuclear palsy (PSP) is a neurodegenerative disorder which can be mimicked by a variety of conditions, such as CADASIL, cerebrovascular disease, and autoimmune encephalitis [2].
Source: Parkinsonism and Related Disorders - July 7, 2023 Category: Neurology Authors: Reece M. Hass, Jennifer L. Whitwell, Elizabeth Y. Coon, Keith A. Josephs, Farwa Ali Tags: Correspondence Source Type: research
The association between C-peptide and atrial cardiomyopathy in nondiabetic adults: results from NHANES III
AbstractSerum C-peptide exhibits various biological activities. The relationship between C-peptide and atrial cardiomyopathy remains unknown. We aimed to investigate the association between C-peptide level and atrial cardiomyopathy in nondiabetic adults. Our study enrolled 4578 participants without diagnosed diabetes from the Third National Health and Nutrition Examination Survey (NHANES III). Atrial cardiomyopathy was defined as a deep terminal negative P wave in V1 below − 100 µV (more negative), according to the electrocardiogram. The participants were categorized into low C-peptide (≤ 1.46 nmol/L) and high C-...
Source: Heart and Vessels - June 24, 2023 Category: Cardiology Source Type: research
Genes, Vol. 14, Pages 1332: Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy
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Evgeniya Kogan
A 60-year-old male with hypertrophic cardiomyopathy, conduction disorders, post-COVID-19 myopericarditis and heart failure was admitted to the hospital’s cardiology department. Blood tests revealed an increase in CPK activity, troponin T elevation and high titers of anticardiac antibodies. Whole exome sequencing showed the presence of the pathogenic variant NM_213599:c.2272C>T of the ANO5 gene. Results of the skeletal muscle biopsy excluded the diagnosis of systemic amyloidosis. Microscopy of the muscle fragment demonstrated sclerosis of the perimysium, moderate lymphoid...
Source: Genes - June 24, 2023 Category: Genetics & Stem Cells Authors: Olga Blagova Yulia Lutokhina Marina Vukolova Sergey Pirozhkov Natalia Sarkisova Dilara Ainetdinova Anushree Das Marina Krot Vera Smolyannikova Petr Litvitsky Elena Zaklyazminskaya Evgeniya Kogan Tags: Case Report Source Type: research
Effective treatment of choreaballism due to an MT ‐CYB variant with haloperidol, tetrabenazine, and antioxidants
Cerebral CT showing bilateral putaminal calcifications of a patient with multisystem mitochondrial disorder due to the variant 15043G > A inMT-CYB. Key Clinical MessageHypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloper...
Source: Clinical Case Reports - June 21, 2023 Category: General Medicine Authors: Josef Finsterer,
Ritwik Ghosh Tags: CASE REPORT Source Type: research
Ventricular-atrial coupling in subjects with normal, preserved, and reduced left ventricular ejection fraction: insights from cardiac magnetic resonance imaging
ConclusionsThe coupled correlations between the left atria and ventricle in every phase and the individual strain-strain curve vary with etiology. LA deformation in late diastole provides prior and incremental information on cardiac dysfunction based on LV metrics. The total LA emptying fraction was an independent indicator for clinical outcome superior to that of LV typical predictors.Clinical relevance statementLeft ventricular-atrial coupling is not only valuable for comprehending the pathophysiological mechanisms of cardiovascular diseases caused by different etiologies but also holds significant importance for the pre...
Source: European Radiology - June 15, 2023 Category: Radiology Source Type: research
Novel p.Asp27Glu ACTA1 Variant Features Congenital Myopathy with Finger Flexor Weakness, Cardiomyopathy, and Cardiac Conduction Defects
The skeletal muscle α-actin 1 gene (ACTA1) encodes skeletal muscle α-actin, a highly conserved protein constituting the main actin isoform in thin filaments of the sarcomere, which is essential to skeletal and cardiac muscle contraction through interaction with myosin [1–3]. Pathogenic variants in ACTA1 cause autos omal dominant, or, less frequently, recessive congenital myopathies [1–5]. Clinical presentations are heterogeneous in age of onset and severity, ranging from severe infantile weakness with respiratory involvement to mild adolescent-to-adult-onset proximal-predominant weakness [6–8] with poor ge notype-p...
Source: Neuromuscular Disorders - May 30, 2023 Category: Neurology Authors: Bridget Mulvany-Robbins, Brendan Putko, Laura Schmitt, Gavin Oudit, Cecile Phan, Grayson Beecher Tags: Case report Source Type: research
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
We report a case of infantile BTHS with severe heart failure, left ventricular noncompaction, and lactic acidosis, having a missense c.640C>T (p.His214Tyr) variant in TAZ, which is considered a pathogenic variant based on the previously reported amino acid substitution at the same site (c.641A>G, p.His214Arg). However, in this previously reported case, heart function was compensated and not entirely similar to the present case. Silico prediction analysis suggested that c.640C>T could alter the TAZ messenger RNA (mRNA) splicing process. TAZ mRNAs in isolated peripheral mononuclear cells from the patient and in vitr...
Source: Molecular Medicine - May 15, 2023 Category: Molecular Biology Authors: Atsuhito Takeda Masahiro Ueki Jiro Abe Kazuhiro Maeta Tomoko Horiguchi Hirokuni Yamazawa Gaku Izumi Ayako Chida-Nagai Daisuke Sasaki Takao Tsujioka Itsumi Sato Masahiro Shiraishi Masafumi Matsuo Source Type: research
Quality of life in Barth syndrome
CONCLUSION: This study provides a unique characterization of the HRQoL in boys and men with BTHS using a variety of outcome measures, and it highlights the negative impact of fatigue and muscle weakness on HRQoL in BTHS.TRIAL REGISTRY NAME: A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects with Barth Syndrome (TAZPOWER). https://clinicaltrials.gov/ct2/show/NCT03098797.Registration Number: NCT03098797.PMID:37180415 | PMC:PMC10032447 | DOI:10.1177/26330040221093743
Source: Adv Data - May 14, 2023 Category: Epidemiology Authors: Alexander Y Kim Hilary Vernon Ryan Manuel Mohammed Almuqbil Brittany Hornby Source Type: research
Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling
We report a case of a 21-year-old student who developed bilateral lower limb weakness, pain, and swelling diagnosed with mitochondrial myopathy on muscle biopsy. Initial laboratory tests revealed elevated creatinine kinase, brain natriuretic peptide, troponin, myoglobin, and lactic acid and reduced serum bicarbonate. Cardiac workup revealed systolic heart failure with a reduced ejection fraction. Endomyocardial biopsy revealed punctate foci of lymphocytic myocarditis. However, cardiac magnetic resonance imaging did not reveal either myocarditis or an infiltrative cardiac disease. An extensive autoimmune and infection work-...
Source: Primary Care - May 10, 2023 Category: Primary Care Authors: Kavya Bharathidasan Abbie Evans Fabiana Monte Alegre Olmos Fernandez Arunee Tansrisook Motes Kenneth Nugent Source Type: research
Po-02-208 characterization of atrial electrophysiological properties in patients with hypertrophic obstructive cardiomyopathy
Atrial fibrillation (AF) occurs frequently in patients with hypertrophic obstructive cardiomyopathy (HOCM) and the success rate of pulmonary vein isolation in these patients is less effective compared to other populations. This may be explained by the presence of an extensive arrhythmogenic substrate in both atria due to a primary atrial myopathy, but electrophysiological properties of the right (RA) and left atrium (LA) have never been investigated.
Source: Heart Rhythm - May 1, 2023 Category: Cardiology Authors: Nawin Ramdat Misier, Yannick Taverne, Jorik Amesz, Rohit K. Kharbanda, Hoang H. Nguyen, Mathijs S. van Schie, Paulus Knops, Peter L. de Jong, Bianca Brundel, Natasja M. De Groot Source Type: research
