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Pediatric Hypertrophic Cardiomyopathy

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Cardiac Magnetic Resonance Imaging Features in Hypertrophic Cardiomyopathy Diagnosed at <21 Years of Age.

Erica D Bonura, J Martijn Bos, Mahmoud A Abdelsalam, Philip A Araoz, Steve R Ommen, Michael J Ackerman, Jeffrey B Geske,

Hypertrophic cardiomyopathy (HC) is the most common inherited cardiomyopathy, with varied timing of phenotypic and clinical presentation. Literature describing cardiac magnetic resonance (CMR) imaging and late gadolinium enhancement (LGE) in young patients with HC is limited. This study included patients diagnosed with HC at young age (<21 years) between January ... Read more >>

Am. J. Cardiol. (The American journal of cardiology)
[2020, :]

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Ventricular Tachycardia in an Infant Without Congenital Anomaly: A Case Report.

Nouhad El Joueid, Marianne Touma Boulos, Simon Abou Jaoude, Linda Daou,

Ventricular tachycardia (VT) is a serious form of arrhythmia that can be life-threatening; that's why diagnosis and treatment are very important in order to avoid serious complications. We are reporting this case of VT which is a rare entity, especially, in healthy infants. This infant, without cardiac pathology known from ... Read more >>

Cardiol Res (Cardiology research)
[2020, 11(1):61-65]

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Infantile-onset pompe disease: a tale of two cases.

Drishti Tolani, Neha Bansal, Swati Sehgal,

Pompe disease is a type-II glycogen storage disease, and clinical manifestations include hypertrophic cardiomyopathy and generalised muscular hypotonia. Enzyme replacement therapy has proven to be effective in reversing the ventricular hypertrophy. The outcomes are variable depending on time to diagnosis and severity of the cardiac disease. We describe two contrasting ... Read more >>

Cardiol Young (Cardiology in the young)
[2020, :1-3]

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Left ventricular global function index by magnetic resonance imaging - a novel marker for differentiating cardiac amyloidosis from hypertrophic cardiomyopathy.

Shan Huang, Hua-Yan Xu, Kai-Yue Diao, Ke Shi, Yong He, Sen He, Yi Zhang, Yue Gao, Meng-Ting Shen, Ying-Kun Guo, Zhi-Gang Yang,

Differentiating cardiac amyloidosis (CA) from hypertrophic cardiomyopathy (HCM) remains a clinical challenge, particularly in those with preserved left ventricular ejection fraction (LVEF) and similar hypertrophy. This study aimed to use left ventricular global function index (LVGFI) and myocardial contraction fraction (MCF) to discriminate CA from HCM without using contrast agents ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):4707]

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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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Gastric inflammatory myofibroblastic tumor in a 10-month-old girl: A case report.

Otto Morales Prillwitz, Bladimir Pérez Hurtado, Stephany Olaya Álvarez, Nasly Marcela Arevalo Sánchez, Raúl Ernesto Astudillo Palomino,

INTRODUCTION:Inflammatory Myofibroblastic Tumors (IMTs) are rare mesenchymal tumors of unclear etiology and uncertain malignant potential that affect all age groups. IMTs are most often found in the lungs; although they do occur in a variety of other organs. IMTs have been reported in the mesentery, head and neck, omentum, retroperitoneum, ... Read more >>

Int J Surg Case Rep (International journal of surgery case reports)
[2020, 68:185-189]

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No increased extracellular volume fraction or conduction time after childhood septal myectomy.

Julia Schleihauf, Julie Cleuziou, Christian Meierhofer, Karin Klingel, Moritz Jesinghaus, Emanuel Kaltenecker, Peter Ewert, Cordula M Wolf,

OBJECTIVES:The aim of this study was to assess the effect of surgical septal myectomy performed during early childhood for severe, drug-refractory hypertrophic cardiomyopathy with left ventricular outflow tract obstruction on the extent of septal myocardial extracellular volume fraction and the potential risk of developing atrioventricular cardiac conduction system disease. METHODS:In ... Read more >>

Eur J Cardiothorac Surg (European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery)
[2020, :]

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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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LZTR1-related Hypertrophic Cardiomyopathy without Typical Noonan Syndrome Features.

Janda Jenkins, Aliessa Barnes, Brian F Birnbaum, John Papagiannis, Isabelle Thiffault, Carol J Saunders,

Circ Genom Precis Med (Circulation. Genomic and precision medicine)
[2020, :]

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A proposed approach to the asymptomatic pediatric patient with Wolff-Parkinson-White pattern.

Henry Chubb, Scott R Ceresnak,

HeartRhythm Case Rep (HeartRhythm case reports)
[2020, 6(1):2-7]

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Electrocardiographic changes and long-term prognosis of children diagnosed with hypertrophic cardiomyopathy by the school screening program for heart disease in Japan.

Yoshihito Morimoto, Aya Miyazaki, Etsuko Tsuda, Yosuke Hayama, Jun Negishi, Hideo Ohuchi,

BACKGROUND:In Japan, the school screening program for heart disease (SS) has been performed since 1973. However, little has been reported on the electrocardiogram (ECG) changes and long-term prognosis in patients with hypertrophic cardiomyopathy (HCM) detected by the SS. METHODS:All 44 consecutive pediatric HCM patients (10.1 ± 3.0 years old), who had been ... Read more >>

J Cardiol (Journal of cardiology)
[2019, :]

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Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy.

Suqiu Huang, Tian Pu, Wei Wei, Rang Xu, Yurong Wu,

BACKGROUND:Hypertrophic cardiomyopathy (HCM) is the most common inheritable cardiac disease and is characterised by unexplained ventricular myocardial hypertrophy. HCM is highly heterogeneous and is primarily caused by the mutation of genes encoding sarcomere proteins. As a result of its genetic basis, we investigated the underlying cause of HCM in a ... Read more >>

J Gene Med (The journal of gene medicine)
[2020, 22(3):e3146]

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Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty,

BACKGROUND:Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants in NS-affected patients. Therefore, clinically diagnosed NS individuals ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):50]

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Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.

Nilay Güneş, Tufan Kutlu, Gonca Topuzlu Tekant, Ayşe Güler Eroğlu, Nil Çomunoğlu Üstündağ, Birol Öztürk, Hüseyin Onay, Beyhan Tüysüz,

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by lipoatrophy affecting the face, limbs and trunk, acromegaloid features, hepatomegaly, hypertriglyceridemia, and insulin resistance. The aim of this study is to evaluate the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with CGL1 and CGL4, caused by ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2019, :103819]

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Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature.

Nina D Paauw, Raymond Stegeman, Monique A M J de Vroede, Jacqueline U M Termote, Matthias W Freund, Johannes M P J Breur,

Hypertrophic cardiomyopathy (HCM) in neonates is a rare and heterogeneous disorder which is characterized by hypertrophy of heart with histological and functional disruption of the myocardial structure/composition. The prognosis of HCM depends on the underlying diagnosis. In this review, we emphasize the importance to consider hyperinsulinism in the differential diagnosis ... Read more >>

Eur. J. Pediatr. (European journal of pediatrics)
[2020, 179(1):39-50]

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Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses.

Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Lin Lee, Ming-Ren Chen, Kuo-Tzu Sung, Shan-Miao Lin, Charles Jia-Yin Hou, Dau-Ming Niu, Tung-Ming Chang, Chung-Lieh Hung, Shuan-Pei Lin,

BACKGROUND:Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and stenosis, valvular thickening, and hypertrophic cardiomyopathy. METHODS:Cardiac features of 53 Taiwanese ... Read more >>

Diagnostics (Basel) (Diagnostics (Basel, Switzerland))
[2020, 10(2):]

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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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Altered regional myocardial velocities by tissue phase mapping and feature tracking in pediatric patients with hypertrophic cardiomyopathy.

Arleen Li, Alexander Ruh, Haben Berhane, Joshua D Robinson, Michael Markl, Cynthia K Rigsby,

BACKGROUND:Hypertrophic cardiomyopathy (HCM) is associated with heart failure, atrial fibrillation and sudden death. Reduced myocardial function has been reported in HCM despite normal left ventricular (LV) ejection fraction. Additionally, LV fibrosis is associated with elevated T1 and might be an outcome predictor. OBJECTIVE:To systematically compare tissue phase mapping and feature ... Read more >>

Pediatr Radiol (Pediatric radiology)
[2020, 50(2):168-179]

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Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease.

Allison M Jay, Premchand Anne, David Stockton,

Introduction:Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Identification is possible prenatally with testing of both ... Read more >>

Case Rep Pediatr (Case reports in pediatrics)
[2019, 2019:6274979]

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Francesco Mazzarotto, Upasana Tayal, Rachel J Buchan, William Midwinter, Alicja Wilk, Nicola Whiffin, Risha Govind, Erica Mazaika, Antonio de Marvao, Timothy J W Dawes, Leanne E Felkin, Mian Ahmad, Pantazis I Theotokis, Elizabeth Edwards, Alexander Y Ing, Kate L Thomson, Laura L H Chan, David Sim, A John Baksi, Antonis Pantazis, Angharad M Roberts, Hugh Watkins, Birgit Funke, Declan P O'Regan, Iacopo Olivotto, Paul J R Barton, Sanjay K Prasad, Stuart A Cook, James S Ware, Roddy Walsh,

BACKGROUND:Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories. However, many genes were originally identified based on candidate-gene studies that did not adequately account for background population variation. Here we define the frequency of rare variation in 2538 patients with DCM across protein-coding regions ... Read more >>

Circulation (Circulation)
[2020, 141(5):387-398]

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Pediatric systemic lupus erythematosus patients in South Africa have high prevalence and severity of cardiac and vascular manifestations.

Michael J Harrison, Liesl J Zühlke, Laura B Lewandowski, Christiaan Scott,

BACKGROUND:Pediatric onset of systemic lupus erythematosus (SLE) is associated with major organ involvement, and African patients tend to develop more aggressive disease than patients of European descent. Although cardiovascular involvement is common in pediatric SLE, there are few published reports on the subject. This study describes the frequency and characteristics ... Read more >>

Pediatr Rheumatol Online J (Pediatric rheumatology online journal)
[2019, 17(1):76]

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The utility of dupilumab for use in the pediatric population.

Aakaash Varma, Michael Tassavor, Jacob Levitt,

JAAD Case Rep (JAAD case reports)
[2019, 5(11):943-944]

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Assessing right ventricular deformation in hypertrophic cardiomyopathy patients with preserved right ventricular ejection fraction: a 3.0-T cardiovascular magnetic resonance study.

Xiang Li, Ke Shi, Zhi-Gang Yang, Ying-Kun Guo, Shan Huang, Chun-Chao Xia, Sen He, Zhen-Lin Li, Chen Li, Yong He,

To assess the global and regional right ventricular (RV) deformation in hypertrophic cardiomyopathy (HCM) patients with preserved right ventricular ejection fraction (RVEF) using 3.0-T cardiovascular magnetic resonance tissue tracking (CMR-TT). Eighty-two HCM patients and 32 age- and sex-matched healthy controls were enrolled. HCM patients were divided into groups depending on ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):1967]

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Successful bilateral thoracoscopic sympathectomy for recurrent ventricular arrhythmia in a pediatric patient with hypertrophic cardiomyopathy.

Joshua Price, Douglas Y Mah, Francis L Fynn-Thompson, Anna E Tsirka,

HeartRhythm Case Rep (HeartRhythm case reports)
[2020, 6(1):23-26]

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Editorial to "Association of QT dispersion with mortality and arrhythmic events-A meta-analysis of observational studies".

Cem Karadeniz,

J Arrhythm (Journal of arrhythmia)
[2020, 36(1):116-117]

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