Browsing by Author "Landstrom, Andrew P"
Now showing items 1-20 of 28
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A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation.
(Clinical case reports, 2019-01)Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the ... -
A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.
(Journal of muscle research and cell motility, 2020-11-11)Familial cardiomyopathy is an inherited disease that affects the structure and function of heart muscle and has an extreme range of phenotypes. Among the millions of affected individuals, patients with hypertrophic (HCM), ... -
Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN-Encoded Titin Truncating Variants.
(Circulation. Genomic and precision medicine, 2021-02)<h4>Background</h4>TTN, the largest gene in the human body, encodes TTN (titin), a protein that plays key structural, developmental, and regulatory roles in skeletal and cardiac muscle. Variants in TTN, particularly truncating ... -
Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.
(Heart rhythm, 2018-07)BACKGROUND:Due to rapid expansion of clinical genetic testing, an increasing number of genetic variants of undetermined significance and unclear diagnostic value are being identified in children. Variants found in genes ... -
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
(Circulation, 2020-02)BACKGROUND:Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated ... -
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
(Scientific reports, 2019-06-21)Junctophilin-2 (JPH2) is a part of the junctional membrane complex that facilitates calcium-handling in the cardiomyocyte. Previously, missense variants in JPH2 have been linked to hypertrophic cardiomyopathy; however, pathogenic ... -
Association of Wolff-Parkinson-White With Left Ventricular Noncompaction Cardiomyopathy in Children.
(Journal of cardiac failure, 2019-12)BACKGROUND:Wolff-Parkinson-White (WPW) has been associated with left ventricular noncompaction (LVNC) in children. Little is known about the prevalence of this association, clinical outcomes, and treatment options. ... -
Cardiac dysregulation following intrahippocampal kainate-induced status epilepticus.
(Scientific reports, 2020-03-04)Status epilepticus (SE) is a prevalent disorder associated with significant morbidity, including the development of epilepsy and mortality. Cardiac arrhythmias (i.e. inappropriate sinus tachycardia and bradycardia, asystole, ... -
Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome.
(The Journal of pediatrics, 2018-11)OBJECTIVE:To determine the prevalence, spectrum, and prognostic significance of copy number variants of undetermined significance (cnVUS) seen on chromosomal microarray (CMA) in neonates with hypoplastic left heart syndrome ... -
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation.
(Journal of visualized experiments : JoVE, 2019-01-16)Advancements in the cost and speed of next generation genetic sequencing have generated an explosion of clinical whole exome and whole genome testing. While this has led to increased identification of likely pathogenic mutations ... -
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.
(Molecular genetics and metabolism, 2022-03)<h4>Purpose</h4>Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up.<h4>Methods</h4>Twenty infants ages 6-21 months with LOPD ... -
Early experience with intravenous sotalol in children with and without congenital heart disease.
(Heart rhythm, 2018-12)BACKGROUND:Arrhythmias are common in the pediatric population. In patients unable to take oral medications or in need of acute therapy, options of intravenous (IV) antiarrhythmic medications are limited. Recently IV sotalol ... -
Efficacy of RyR2 inhibitor EL20 in induced pluripotent stem cell-derived cardiomyocytes from a patient with catecholaminergic polymorphic ventricular tachycardia.
(Journal of cellular and molecular medicine, 2021-06-10)Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac arrhythmia syndrome that often leads to sudden cardiac death. The most common form of CPVT is caused by autosomal-dominant variants in ... -
Essential roles of the dystrophin-glycoprotein complex in different cardiac pathologies.
(Advances in medical sciences, 2020-12-30)The dystrophin-glycoprotein complex (DGC), situated at the sarcolemma dynamically remodels during cardiac disease. This review examines DGC remodeling as a common denominator in diseases affecting heart function and health. ... -
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
(Journal of the American Heart Association, 2021-01-12)Congenital heart disease is the most common congenital defect observed in newborns. Within the spectrum of congenital heart disease are left-sided obstructive lesions (LSOLs), which include hypoplastic left heart syndrome, ... -
Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.
(Circulation. Genomic and precision medicine, 2020-08)Advances in human genetics are improving the understanding of a variety of inherited cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular disorders, and lipid disorders such as familial ... -
Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome.
(JACC. Clinical electrophysiology, 2020-11)<h4>Objectives</h4>This study sought to determine the relationship between long QT syndrome (LQTS) subtype (LTQ1, LTQ2, LTQ3) and postnatal cardiac events (CEs).<h4>Background</h4>LQTS presenting with 2:1 atrioventricular ... -
Hypertension Susceptibility Loci are Associated with Anthracycline-related Cardiotoxicity in Long-term Childhood Cancer Survivors.
(Scientific reports, 2017-08-29)Anthracycline-based chemotherapy is associated with dose-dependent, irreversible damage to the heart. Childhood cancer survivors with hypertension after anthracycline exposure are at increased risk of cardiotoxicity, leading ... -
ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.
(Journal of the American Heart Association, 2021-09)Background Pathogenic variation in the ATP1A3-encoded sodium-potassium ATPase, ATP1A3, is responsible for alternating hemiplegia of childhood (AHC). Although these patients experience a high rate of sudden unexpected death ... -
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
(Molecular Genetics & Genomic Medicine, 2019-06)BACKGROUND:With expanding use of clinical whole exome sequencing (WES), genetic variants of uncertain significance are increasingly identified. As pathologic mutations in genes associated with arrhythmogenic right ventricular ...
