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Cardiac genetic testing

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https://www.readbyqxmd.com/read/28432072/translocase-of-inner-membrane-50-functions-as-a-novel-protective-regulator-of-pathological-cardiac-hypertrophy
#1
Kai Tang, Yifan Zhao, Hailing Li, Mengyun Zhu, Weiming Li, Weijing Liu, Guofu Zhu, Dachun Xu, Wenhui Peng, Ya-Wei Xu
BACKGROUND: Translocase of inner membrane 50 (TIM50) is a member of the translocase of inner membrane (TIM) complex in the mitochondria. Previous research has demonstrated the role of TIM50 in the regulation of oxidative stress and cardiac morphology. However, the role of TIM50 in pathological cardiac hypertrophy remains unknown. METHODS AND RESULTS: In the present study we found that the expression of TIM50 was downregulated in hypertrophic hearts. Using genetic loss-of-function animal models, we demonstrated that TIM50 deficiency increased heart and cardiomyocyte size with more severe cardiac fibrosis compared with wild-type littermates...
April 21, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28425041/familial-amyloid-cardiomyopathy-masquerading-as-chronic-guillain-barre-syndrome-things-are-not-always-what-they-seem
#2
Die Hu, Ling Liu, Shuguang Yuan, Yuhong Yi, Daoquan Peng
Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In this case, a 57-year-old man was admitted for outpatient cardiological evaluation of progressive right heart failure and limb paraesthesias. The patient presented with hypertension, chronic Guillain-Barre syndrome, and sick sinus syndrome. Transthoracic echocardiograms showed a thickened ventricular wall and enlarged atrium...
April 19, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28411558/sporadic-periventricular-nodular-heterotopia-classification-phenotype-and-correlation-with-filamin-a-mutations
#3
Wenyu Liu, Bo Yan, Dongmei An, Jiahe Xiao, Fayun Hu, Dong Zhou
OBJECTIVE: The purpose of this study was to better delineate the clinical spectrum of periventricular nodular heterotopia (PNH) in a large patient population after long term follow up. Specifically, this study aimed to relate PNH subtypes to clinical or epileptic outcomes, epileptic discharges and underlying Filamin A (FLNA) mutations by analyzing anatomical features. METHODS: The study included 100 patients with radiologically confirmed nodular heterotopia. Patients' FLNA gene sequences and medical records were analyzed...
April 4, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28408708/nonfamilial-hypertrophic-cardiomyopathy-prevalence-natural-history-and-clinical-implications
#4
Jodie Ingles, Charlotte Burns, Richard D Bagnall, Lien Lam, Laura Yeates, Tanya Sarina, Rajesh Puranik, Tom Briffa, John J Atherton, Tim Driscoll, Christopher Semsarian
BACKGROUND: Yield of causative variants in hypertrophic cardiomyopathy (HCM) is increased in some probands, suggesting different clinical subgroups of disease occur. We hypothesized that a negative family history and no sarcomere mutations represent a nonfamilial subgroup of HCM. We sought to determine the prevalence, natural history, and potential clinical implications of this nonfamilial subgroup of HCM. METHODS AND RESULTS: Four hundred and thirteen unrelated probands with HCM seen in a specialized HCM center between 2002 and 2015 and genetic testing performed were included in this retrospective cohort study...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28407410/variable-clinical-course-of-identical-twin-neonates-with-alstr%C3%A3-m-syndrome-presenting-coincidentally-with-dilated-cardiomyopathy
#5
Seth A Hollander, Norah Alsaleh, Maura Ruzhnikov, Kristen Jensen, David N Rosenthal, David A Stevenson, Melanie Manning
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28405885/sudden-death-due-to-catecholaminergic-polymorphic-ventricular-tachycardia-following-negative-stress-test-outcome-genetics-and-clinical-implications
#6
Cristian D'Ovidio, Aldo Carnevale, Vincenzo M Grassi, Enrica Rosato, Bernat Del Olmo, Monica Coll, Oscar Campuzano, Anna Iglesias, Ramon Brugada, Antonio Oliva
This paper discusses the case of a young boy who died suddenly during a football match. The victim's personal and family medical histories were negative for cardiac events. He had undergone a cardiological investigation some months before his death, enabling him to participate in competitive sports. Only post-mortem molecular analysis allowed for a clearer determination of the most plausible cause of death, which was identified as inherited arrhythmogenic heart disease, known as catecholaminergic polymorphic ventricular tachycardia...
April 13, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28400318/hemopexin-counteracts-systolic-dysfunction-induced-by-heme-driven-oxidative-stress
#7
Giada Ingoglia, Can Martin Sag, Nikolai Rex, Lucia De Franceschi, Francesca Vinchi, James Cimino, Sara Petrillo, Stefan Wagner, Klaus Kreitmeier, Lorenzo Silengo, Fiorella Altruda, Lars S Maier, Emilio Hirsch, Alessandra Ghigo, Emanuela Tolosano
Heart failure is a leading cause of morbidity and mortality in patients affected by different disorders associated to intravascular hemolysis. The leading factor is the presence of pathologic amount of pro-oxidant free heme in the bloodstream, due to the exhaustion of the natural heme scavenger Hemopexin (Hx). Here, we evaluated whether free heme directly affects cardiac function, and tested the therapeutic potential of replenishing serum Hx for increasing serum heme buffering capacity. The effect of heme on cardiac function was assessed in vitro, on primary cardiomyocytes and H9c2 myoblast cell line, and in vivo, in Hx(-/-) mice and in genetic and acquired mouse models of intravascular hemolysis...
April 8, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28398664/rare-copy-number-variants-in-patients-with-congenital-conotruncal-heart-defects
#8
Hongbo M Xie, Petra Werner, Dwight Stambolian, Joan E Bailey-Wilson, Hakon Hakonarson, Peter S White, Deanne M Taylor, Elizabeth Goldmuntz
BACKGROUND: Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome. METHODS: Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28396031/penetrance-of-hypertrophic-cardiomyopathy-in-children-who-are-mutation-positive
#9
Alexa M C Vermeer, Sally-Ann B Clur, Nico A Blom, Arthur A M Wilde, Imke Christiaans
OBJECTIVES: To investigate the presence of hypertrophic cardiomyopathy (HCM) at first cardiac evaluation and during follow-up and cardiac events in predictively tested children who are mutation positive. STUDY DESIGN: The study included 119 predictively tested children who were mutation positive, with a mean age of 12.1 years. A family history and clinical variables from all cardiac evaluations after predictive genetic testing were recorded. Outcome measures were a clinical diagnosis of HCM, death, and cardiac events...
April 7, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28391405/postmortem-genetic-testing-should-be-recommended-in-sudden-cardiac-death-cases-due-to-thoracic-aortic-dissection
#10
Marina Gago-Díaz, Eva Ramos-Luis, Silvia Zoppis, Esther Zorio, Pilar Molina, Aitana Braza-Boïls, Juan Giner, Beatriz Sobrino, Jorge Amigo, Alejandro Blanco-Verea, Ángel Carracedo, María Brion
BACKGROUND: Acute thoracic aortic dissections and ruptures, the main life-threatening complications of the corresponding aneurysms, are an important cause of sudden cardiac death. Despite the usefulness of the molecular diagnosis of these conditions in the clinical setting, the corresponding forensic field remains largely unexplored. The main goal of this study was to explore and validate a new massive parallel sequencing candidate gene​ assay as a diagnostic tool for acute thoracic aortic dissection autopsy cases...
April 8, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28379313/early-sensitization-of-myofilaments-to-ca2-prevents-genetically-linked-dilated-cardiomyopathy-in-mice
#11
Marco L Alves, Chad M Warren, Jillian N Simon, Robert D Gaffin, Eric M Montminy, David F Wieczorek, R John Solaro, Beata M Wolska
Background: : Dilated cardiomoypathies (DCM) are a heterogeneous group of inherited and acquired diseases characterized by decreased contractility and enlargement of cardiac chambers and a major cause of morbidity and mortality. Mice with Glu54Lys mutation in α-tropomyosin (Tm54) demonstrate typical DCM phenotype with reduced myofilament Ca 2+ sensitivity. We tested the hypothesis that early sensitization of the myofilaments to Ca 2+ in DCM can prevent the DCM phenotype. Methods and Results: To sensitize Tm54 myofilaments, we used a genetic approach and crossbred Tm54 mice with mice expressing slow skeletal troponin I (ssTnI) that sensitizes myofilaments to Ca 2+ ...
April 3, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28373570/effects-of-systemic-multiexon-skipping-with-peptide-conjugated-morpholinos-in-the-heart-of-a-dog-model-of-duchenne-muscular-dystrophy
#12
Yusuke Echigoya, Akinori Nakamura, Tetsuya Nagata, Nobuyuki Urasawa, Kenji Rowel Q Lim, Nhu Trieu, Dharminder Panesar, Mutsuki Kuraoka, Hong M Moulton, Takashi Saito, Yoshitsugu Aoki, Patrick Iversen, Peter Sazani, Ryszard Kole, Rika Maruyama, Terry Partridge, Shin'ichi Takeda, Toshifumi Yokota
Duchenne muscular dystrophy (DMD) is a lethal genetic disorder caused by an absence of the dystrophin protein in bodywide muscles, including the heart. Cardiomyopathy is a leading cause of death in DMD. Exon skipping via synthetic phosphorodiamidate morpholino oligomers (PMOs) represents one of the most promising therapeutic options, yet PMOs have shown very little efficacy in cardiac muscle. To increase therapeutic potency in cardiac muscle, we tested a next-generation morpholino: arginine-rich, cell-penetrating peptide-conjugated PMOs (PPMOs) in the canine X-linked muscular dystrophy in Japan (CXMDJ) dog model of DMD...
April 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28367853/familial-atrial-myxoma-three-related-cases-at-an-australian-tertiary-institution
#13
Campbell Schmidt, Atsuo Doi, Masashi Ura, Chris Cole, Julie Mundy
Carney complex accounts for up to two-thirds of familial cardiac myxoma. It is a rare autosomal dominant syndrome, which is also characterized by multiple mucocutaneous lesions and endocrine tumors. We report on three first-degree relatives who underwent surgical resection at the same Australian tertiary institution. One patient re-presented with a recurrent tumor at an interval of 6 years. In this context, the role of interval surveillance, family screening, and genetic testing is explored. We recommend interval echocardiographic surveillance for affected individuals and first-degree relatives given the high risk of recurrence and the morbidity and mortality associated with cardiac tumors in any location...
March 29, 2017: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28347583/hypereosinophilic-syndrome-as-a-rare-cause-of-reversible-biventricular-heart-failure
#14
Maria Bonou, Chris J Kapelios, George Benetos, Ioannis Moyssakis, Nefeli Giannakopoulou, Panagiotis Diamantopoulos, Penelope Korkolopoulou, Eleni Variami, John Barbetseas
Hypereosinophilic syndrome is a rare entity that can develop secondary to overproduction of eosinophilopoietic cytokines or as idiopathic disease. Cardiac involvement, which occurs often, is divided into 3 stages, the latter of which is nonreversible and leads to severe heart failure. Early detection and treatment of the syndrome is essential. For this reason, genetic testing for the FIP1L1-PDGFRA fusion gene has recently been added to the diagnostic algorithm. Patients with this mutation are at increased risk for the development of cardiac involvement and typically respond to treatment with the tyrosine kinase inhibitor imatinib mesylate...
January 20, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28346476/reduced-dosage-of-%C3%AE-catenin-provides-significant-rescue-of-cardiac-outflow-tract-anomalies-in-a-tbx1-conditional-null-mouse-model-of-22q11-2-deletion-syndrome
#15
Silvia E Racedo, Erica Hasten, Mingyan Lin, Gnanapackiam Sheela Devakanmalai, Tingwei Guo, Ertugrul M Ozbudak, Chen-Leng Cai, Deyou Zheng, Bernice E Morrow
The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1, encoding a T-box transcription factor, is the major candidate for cardiac outflow tract (OFT) malformations. Inactivation of Tbx1 in the anterior heart field (AHF) mesoderm in the mouse results in premature expression of pro-differentiation genes and a persistent truncus arteriosus (PTA) in which septation does not form between the aorta and pulmonary trunk...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28343764/channelopathies-genetic-testing-and-risk-stratification
#16
Arthur A M Wilde, Ahmad Amin
The cardiac channelopathies are a group of diseases with (disease-) specific electrocardiographic (ECG) characteristics and a disease-specific risk of sudden cardiac death (SCD). This group includes the Long QT Syndromes (LQTS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Brugada Syndrome (BrS), Short QT Syndromes (SQTS), and Early Repolarization Syndrome (ERS). In the past 2 decades the genetic basis for these disease entities has largely been unraveled and that, together with the identification of the genetic basis of the cardiomyopathies, has paved the way for the complete new field of Cardiogenetics...
March 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28341588/targeted-next-generation-sequencing-of-51-genes-involved-in-primary-electrical-disease
#17
Dorien Proost, Johan Saenen, Geert Vandeweyer, Annelies Rotthier, Maaike Alaerts, Emeline M Van Craenenbroeck, Joachim Van Crombruggen, Geert Mortier, Wim Wuyts, Christiaan Vrints, Jurgen Del Favero, Bart Loeys, Lut Van Laer
Primary electrical disease (PED) is characterized by cardiac arrhythmias, which can lead to sudden cardiac death in the absence of detectable structural heart disease. PED encompasses a diversity of inherited syndromes, predominantly Brugada syndrome, early repolarization syndrome, long QT syndrome, short QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and catecholaminergic polymorphic ventricular tachycardia. To overcome the diagnostic challenges imposed by the clinical and genetic heterogeneity of PED, we developed a targeted gene panel for next-generation sequencing of 51 PED genes...
May 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28322432/bilateral-congenital-deafness-what-investigations-should-be-performed
#18
Nicolas Gürtler, Claudine Gysin, Nevenka Schmid, Claudia Pieren, Mattheus Vischer, Stefan Schumacher, Peter Oppermann, Daniel Leuba, Dorothée Veraguth
BACKGROUND: The introduction of newborn hearing screening has led to earlier identification of children with congenital sensorineural hearing loss (SNHL). Aetiological clarification offers several benefits. There is currently a lack of agreement on which examinations should be recommended. OBJECTIVE: Descriptive review of the literature reporting investigations performed to establish the aetiology of congenital SNHL and comparison of the management policy in Swiss referral centres...
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28319562/translating-biomarkers-from-research-to-clinical-use-in-pediatric-neurocritical-care-focus-on-traumatic-brain-injury-and-cardiac-arrest
#19
Andrew J Prout, Michael S Wolf, Ericka L Fink
PURPOSE OF REVIEW: Traumatic brain injury (TBI) and cardiac arrest are important causes of morbidity and mortality in children. Improved diagnosis and outcome prognostication using validated biomarkers could allow clinicians to better tailor therapies for optimal efficacy. RECENT FINDINGS: Contemporary investigation has yielded plentiful biomarker candidates of central nervous system (CNS) injury, including macromolecules, genetic, inflammatory, oxidative, and metabolic biomarkers...
March 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#20
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
April 6, 2017: American Journal of Human Genetics
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