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Pediatric Restrictive Cardiomyopathy

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Variant R94C in TNNT2-Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction.

Jordan E Ezekian, Sarah R Clippinger, Jaquelin M Garcia, Qixin Yang, Susan Denfield, Aamir Jeewa, William J Dreyer, Wenxin Zou, Yuxin Fan, Hugh D Allen, Jeffrey J Kim, Michael J Greenberg, Andrew P Landstrom,

Background Pediatric-onset restrictive cardiomyopathy (RCM) is associated with high mortality, but underlying mechanisms of disease are under investigated. RCM-associated diastolic dysfunction secondary to variants in TNNT2-encoded cardiac troponin T (TNNT2) is poorly described. Methods and Results Genetic analysis of a proband and kindred with RCM identified TNNT2-R94C, which cosegregated in ... Read more >>

J Am Heart Assoc (Journal of the American Heart Association)
[2020, 9(5):e015111]

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Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.

Feifan Xiao, Qiufen Wei, Bingbing Wu, Xu Liu, Aiyao Mading, Lin Yang, Yan Li, Fang Liu, Xinnian Pan, Huijun Wang,

Background:FLNC encodes actin-binding protein and is mainly concentrated in skeletal and cardiac muscle. Mutations in FLNC were found in cardiomyopathies. To date, studies on FLNC-cardiomyopathies have mainly been reported in adults. There are limited studies that have investigated FLNC variants in pediatric patients with cardiomyopathies. Methods:We summarized the patients who ... Read more >>

Transl Pediatr (Translational pediatrics)
[2020, 9(1):21-33]

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Investigation of de novo variation in pediatric cardiomyopathy.

Ashley Parrott, Philip R Khoury, Amy R Shikany, Angela Lorts, Chet R Villa, Erin M Miller,

Pediatric cardiomyopathies can be caused by variants in genes encoding the sarcomere and cytoskeleton in cardiomyocytes. Variants are typically inherited in an autosomal dominant manner with variable expressivity. De novo variants have been reported, however their overall frequency is largely unknown. We sought to determine the rate of de novo, ... Read more >>

Am J Med Genet C Semin Med Genet (American journal of medical genetics. Part C, Seminars in medical genetics)
[2020, 184(1):116-123]

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Paediatric cardiomyopathies: echocardiographic diagnosis, clinical profile, and demographic characteristics: the experience of a tertiary referral centre for Latin American paediatric cardiology.

Víctor M Huertas-Quiñones, Camilo F Mestra, Valeria Peña-Trujillo, Sebastián Gallo-Bernal, Mariana Villaveces, Laura C Alarcón-Forero,

BACKGROUND:Although multiple studies have been conducted in the adult population, there is a vast knowledge gap regarding the epidemiologic characteristics of cardiomyopathies in the paediatric population. This issue is even more crucial when the precarious situation of medical research in Latin America is considered. Given the potential impact that these ... Read more >>

Cardiol Young (Cardiology in the young)
[2020, :1-6]

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Impact of the 2016 revision of US Pediatric Heart Allocation Policy on waitlist characteristics and outcomes.

Defne A Magnetta, Justin Godown, Shawn West, Matthew Zinn, Kirsten Rose-Felker, Susan Miller, Brian Feingold,

US Pediatric Heart Allocation Policy was recently revised, deprioritizing candidates with cardiomyopathy while maintaining status 1A eligibility for congenital heart disease (CHD) candidates on "high-dose" inotropes. We compared waitlist characteristics and mortality around this change. Status 1A listings decreased (70% to 56%, P < .001) and CHD representation increased among status 1A ... Read more >>

Am. J. Transplant. (American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons)
[2019, 19(12):3276-3283]

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Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments.

Diana Cimiotti, Setsuko Fujita-Becker, Desirée Möhner, Natalia Smolina, Heidi Budde, Aline Wies, Lisa Morgenstern, Alexandra Gudkova, Thomas Sejersen, Gunnar Sjöberg, Andreas Mügge, Marc M Nowaczyk, Peter Reusch, Gabriele Pfitzer, Robert Stehle, Rasmus R Schröder, Hans G Mannherz, Anna Kostareva, Kornelia Jaquet,

TNNI3 encoding cTnI, the inhibitory subunit of the troponin complex, is the main target for mutations leading to restrictive cardiomyopathy (RCM). Here we investigate two cTnI-R170G/W amino acid replacements, identified in infantile RCM patients, which are located in the regulatory C-terminus of cTnI. The C-terminus is thought to modulate the ... Read more >>

PLoS ONE (PloS one)
[2020, 15(3):e0229227]

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Strategies to prevent anthracycline-induced cardiotoxicity in cancer survivors.

Neha Bansal, M Jacob Adams, Sarju Ganatra, Steven D Colan, Sanjeev Aggarwal, Rudolf Steiner, Shahnawaz Amdani, Emma R Lipshultz, Steven E Lipshultz,

Cancer diagnostics and therapies have improved steadily over the last few decades, markedly increasing life expectancy for patients at all ages. However, conventional and newer anti-neoplastic therapies can cause short- and long-term cardiotoxicity. The clinical implications of this cardiotoxicity become more important with the increasing use of cardiotoxic drugs. The ... Read more >>

Cardiooncology (Cardio-oncology (London, England))
[2019, 5:18]

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Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.

Maria Franaszczyk, Grazyna Truszkowska, Przemyslaw Chmielewski, Malgorzata Rydzanicz, Joanna Kosinska, Tomasz Rywik, Anna Biernacka, Mateusz Spiewak, Grazyna Kostrzewa, Malgorzata Stepien-Wojno, Piotr Stawinski, Maria Bilinska, Pawel Krajewski, Tomasz Zielinski, Anna Lutynska, Zofia T Bilinska, Rafal Ploski,

The vast majority of cardiomyopathies have an autosomal dominant inheritance; hence, genetic testing is typically offered to patients with a positive family history. A de novo mutation is a new germline mutation not inherited from either parent. The purpose of our study was to search for de novo mutations in ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(2):]

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RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

Nadya Al-Wakeel-Marquard, Franziska Degener, Christopher Herbst, Jirko Kühnisch, Josephine Dartsch, Boris Schmitt, Titus Kuehne, Daniel Messroghli, Felix Berger, Sabine Klaassen,

Background Cardiomyopathies are heterogeneous diseases with clinical presentations varying from asymptomatic to life-threatening events, including severe heart failure and sudden cardiac death. The role of underlying genetic and disease-modulating factors in children and adolescents is relatively unknown. In this prospective study, in-depth phenotypic and genetic characterization of pediatric patients with ... Read more >>

J Am Heart Assoc (Journal of the American Heart Association)
[2019, 8(15):e012531]

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An Update on Pediatric Cardiomyopathy.

Swati Choudhry, Kriti Puri, Susan W Denfield,

PURPOSE OF REVIEW:This review summarizes the clinical characteristics and updated outcomes of primary pediatric cardiomyopathies including dilated (DCM), hypertrophic (HCM), and restrictive cardiomyopathy (RCM), and briefly discusses left ventricular non-compaction (LVNC) and arrhythmogenic cardiomyopathy (ACM), primarily arrythmogenic right ventricular cardiomyopathy (ARVC). RECENT FINDINGS:Pediatric cardiomyopathies are diseases of the heart muscle ... Read more >>

Curr Treat Options Cardiovasc Med (Current treatment options in cardiovascular medicine)
[2019, 21(8):36]

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Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.

Yskert von Kodolitsch, Anthony Demolder, Evaldas Girdauskas, Harald Kaemmerer, Katharina Kornhuber, Laura Muino Mosquera, Shaine Morris, Enid Neptune, Reed Pyeritz, Svend Rand-Hendriksen, Alexander Rahman, Nina Riise, Leema Robert, Ingmar Staufenbiel, Katalin Szöcs, Thy Thy Vanem, Stephan J Linke, Marina Vogler, Anji Yetman, Julie De Backer,

Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby ... Read more >>

Expert Rev Cardiovasc Ther (Expert review of cardiovascular therapy)
[2019, 17(12):883-915]

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Cardiovascular magnetic resonance: contribution to the exploration of cardiomyopathies.

Călin Schiau, Şerban Schiau, Sorin M Dudea, Simona Manole,

Background and aims:Magnetic resonance imaging is a non-invasive and non-irradiating imaging method, complementary to cardiac ultrasound in the assessment of cardiovascular disease and implicitly of cardiomyopathies. Although it is not a first intention imaging method, it is superior in the assessment of cardiac volumes, left ventricular ejection fraction, in the ... Read more >>

Med Pharm Rep (Medicine and pharmacy reports)
[2019, 92(4):326-336]

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B-ALL With t(5;14)(q31;q32); IGH-IL3 Rearrangement and Eosinophilia: A Comprehensive Analysis of a Peculiar IGH-Rearranged B-ALL.

Benjamin Fournier, Estelle Balducci, Nicolas Duployez, Emmanuelle Clappier, Wendy Cuccuini, Chloé Arfeuille, Aurélie Caye-Eude, Eric Delabesse, Elodie Bottollier-Lemallaz Colomb, Karin Nebral, Marie-Lorraine Chrétien, Coralie Derrieux, Aurélie Cabannes-Hamy, Florent Dumezy, Pascaline Etancelin, Odile Fenneteau, Jamile Frayfer, Antoine Gourmel, Marie Loosveld, Gérard Michel, Nathalie Nadal, Dominique Penther, Isabelle Tigaud, Elise Fournier, Bettina Reismüller, Andishe Attarbaschi, Marina Lafage-Pochitaloff, André Baruchel,

Background: B-cell acute lymphoblastic leukemia associated with t(5;14)(q31;q32); IGH-IL3 is an exceptional cause of eosinophilia. The IGH enhancer on 14q32 is juxtaposed to the IL3 gene on 5q31, leading to interleukin-3 overproduction and release of mature eosinophils in the blood. Clinical, biological and outcome data are extremely scarce in the ... Read more >>

Front Oncol (Frontiers in Oncology)
[2019, 9:1374]

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Current Perspectives On The Role Of The Ketogenic Diet In Epilepsy Management.

Jyotindra Narayan Goswami, Suvasini Sharma,

Drug-refractory epilepsy is a commonly prevalent pediatric neurological illness of global significance. Ketogenic diet (KD) is a time-tested therapeutic modality for refractory epilepsy, which has reemerged as a robust alternative to anti-epileptic pharmacotherapy. There is a growing body of evidence which supports the anti-seizure efficacy, safety profile and feasibility of ... Read more >>

Neuropsychiatr Dis Treat (Neuropsychiatric Disease and Treatment)
[2019, 15:3273-3285]

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Pediatric ventricular assist device therapy for advanced heart failure-Hong Kong experience.

Inderjeet Bhatia, Ka-Lai Cally Ho, Barnabe Antonio Rocha, Nicholson Yam, Kin-Shing Lun, Tak-Cheung Yung, Wing-Kuk Timmy Au,

Ventricular assist devices (VADs) are life-saving options for children with heart failure unresponsive to medical therapy as a bridge to transplantation or cardiac recovery. We present a retrospective review of 13 consecutive children who underwent implantation of VAD between 2001 and 2018 in our center. The median age was 12 years ... Read more >>

J Artif Organs (Journal of artificial organs : the official journal of the Japanese Society for Artificial Organs)
[2019, :]

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Outcomes of Adult Heart Transplantation Using Hepatitis C-Positive Donors.

Arman Kilic, Gavin Hickey, Michael Mathier, Ibrahim Sultan, Thomas G Gleason, Ed Horn, Mary E Keebler,

Background This study evaluated the impact of hepatitis C-positive (HCV+) donors on outcomes of heart transplantation in the United States. Methods and Results Adults undergoing isolated heart transplantation in the United States between January 1, 2016, and December 31, 2018, were included. The primary outcome was 1-year post-transplant survival. Multivariable ... Read more >>

J Am Heart Assoc (Journal of the American Heart Association)
[2020, 9(2):e014495]

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Multi-modal and multiscale imaging approaches reveal novel cardiovascular pathophysiology in Drosophila melanogaster.

Constance G Weismann, Anna Blice-Baum, Tangji Tong, Joyce Li, Brendan K Huang, Stephan M Jonas, Anthony Cammarato, Michael A Choma,

Establishing connections between changes in linear DNA sequences and complex downstream mesoscopic pathology remains a major challenge in biology. Herein, we report a novel, multi-modal and multiscale imaging approach for comprehensive assessment of cardiovascular physiology in Drosophila melanogaster We employed high-speed angiography, optical coherence tomography (OCT) and confocal microscopy to ... Read more >>

Biol Open (Biology open)
[2019, 8(8):]

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Immobile Tricuspid Valve: Incidental Finding in a Case of Terminal Cardiomyopathy Due to Thalassemia Major.

Erman Cilsal,

Arq. Bras. Cardiol. (Arquivos brasileiros de cardiologia)
[2019, 113(3):438-443]

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Updates on the Genetic Paradigm in Heart Failure.

Andrew N Rosenbaum, Naveen Pereira,

PURPOSE OF REVIEW:The rapidly evolving field of cardiovascular genetics has already improved the care of patients with heart failure and families. The purpose of the current review is to describe the most and provide the most pertinent updates in the field of heart failure genetics. RECENT FINDINGS:Recent advanced in heart ... Read more >>

Curr Treat Options Cardiovasc Med (Current treatment options in cardiovascular medicine)
[2019, 21(8):37]

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Green tea extract catechin improves cardiac function in pediatric cardiomyopathy patients with diastolic dysfunction.

Junjun Quan, Zhongli Jia, Tiewei Lv, Lei Zhang, Lingjuan Liu, Bo Pan, Jing Zhu, Ira J Gelb, Xupei Huang, Jie Tian,

BACKGROUND:Our previous studies have demonstrated that Ca2+ desensitizing catechin could correct diastolic dysfunction in experimental animals with restrictive cardiomyopathy. In this study, it is aimed to assess the effects of green tea extract catechin on cardiac function and other clinical features in pediatric patients with cardiomyopathies. METHODS:Twelve pediatric cardiomyopathy patients ... Read more >>

J. Biomed. Sci. (Journal of biomedical science)
[2019, 26(1):32]

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A Case of Isolated Left Ventricular Non-Compaction Cardiomyopathy in a HIV Patient Presenting With Acute Heart Failure.

Bibi Ayesha, Rafeeq Ahmed, Umut Gomceli, Carlos Manrique, Marin Nicu, Sridhar Chilimuri,

The etiology of cardiomyopathy in a HIV patient is multifactorial. Identifying the etiology of cardiomyopathy in a HIV patient needs extensive evaluation. Common causes include ischemic cardiomyopathy, myocarditis due to viral infections and opportunistic infections, cocaine abuse, alcoholic heart disease, drug toxicity or due to nutritional deficiencies. However, in a ... Read more >>

Cardiol Res (Cardiology research)
[2019, 10(4):236-240]

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The Clinical Features of Children With Acute Fulminant Myocarditis and the Diagnostic and Follow-Up Value of Cardiovascular Magnetic Resonance.

Jianli Lv, Bo Han, Cuiyan Wang, Jing Wang, Diandong Jiang, Lijian Zhao, Yingchun Yi, Jianjun Zhang,

Objective: To investigate the clinical features and the diagnostic and follow-up value of acute fulminant myocarditis (AFM) in children. Methods: A total of 20 children diagnosed with AFM admitted to our department were reviewed, and the clinical manifestations; pathogenic examination results; myocardial injury biomarkers; and electrocardiography, echocardiogram, and cardiovascular magnetic ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:388]

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The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years.

Miwako Maeda, Tomoki Maeda, Ken Ebihara, Kenji Ihara,

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by loss of subcutaneous and visceral adipose tissues, and associated with dysregulation of glycolipid metabolism. In the present study, we reported the clinical manifestations and treatments of Japanese siblings with CGL caused by BSCL2 gene mutations with ... Read more >>

Clin Pediatr Endocrinol (Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology)
[2019, 28(4):139-145]

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Effects of dexrazoxane on doxorubicin-related cardiotoxicity and second malignant neoplasms in children with osteosarcoma: a report from the Children's Oncology Group.

Lisa M Kopp, Richard B Womer, Cindy L Schwartz, David H Ebb, Vivian I Franco, David Hall, Donald A Barkauskas, Mark D Krailo, Holcombe E Grier, Paul A Meyers, Leonard H Wexler, Neyssa M Marina, Katherine A Janeway, Richard Gorlick, Mark L Bernstein, Steven E Lipshultz, ,

Background:Dexrazoxane protects from lower-cumulative-dose doxorubicin cardiotoxicity, but the effect of dexrazoxane in children with sarcoma treated with higher-cumulative-dose doxorubicin is unknown. Methods:We evaluated children with osteosarcoma (OS) on two Children's Oncology Group trials with higher dose doxorubicin (375-600 mg/m2) preceded by dexrazoxane (10:1 dexrazoxane:doxorubicin dosing). They were evaluated after the minimum ... Read more >>

Cardiooncology (Cardio-oncology (London, England))
[2019, 5:15]

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Alström Syndrome

Richard B Paisey, Rick Steeds, Tim Barrett, Denise Williams, Tarekegn Geberhiwot, Meral Gunay-Aygun,

CLINICAL CHARACTERISTICS:Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), non-alcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and ... Read more >>

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