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Rafik Tadros

As seen in: Nature, Cambridge University Press & Assessment, JAMA Cardiology, BioRxiv, The American Journal of Human Genetics, Texas Medical Center, JACC (Journal of the American College of Cardiology), Journal of Nuclear Medicine, Canadian Journal of Cardiology, International Journal of Cardiology and
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Articles

Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death

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By Julia Isbister, Shanshan Tian, Ruiwu Wang, John Paul Estillore, Johannie Gagnon, Laura A. Robb Verified, Léna Rivard, Julia Cadrin-Tourigny, Jason Roberts, S. Chen, Rafik Tadros, Benjamin Neveu
| JAMA Cardiology
Key Points Question Can the calcium release deficiency syndrome (CRDS) burst pacing provocation test be used to diagnose a family with hitherto unexplained sudden cardiac arrest and death? Findings In this case series of a 5-generation family, 5 carriers of a novel RYR2-p.Glu336Gly variant demonstrated diagnostic T-wave augmentation with burst pacing or following spontaneous arrhythmia. The novel RYR2 variant was then confirmed to result in loss of function by functional analysis.
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"Common Genetic Variants Contribute to Risk of Transposition of the Gre" by Doris Škorić-Milosavljević, Rafik Tadros et al.

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By Rafik Tadros, Fernanda M. Bosada, Federico Tessadori, Odilia I. Woudstra
| Texas Medical Center
RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.
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Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings - Nature Genetics

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By Sean L. Zheng, Sean J. Jurgens, Kathryn A. McGurk, Pantazis I. Theotokis, Rachel Buchan, Antonio de Marvao, Wenjia Bai, Paloma Jordà, Elizabeth Ormondroyd, Paul Matthews, Yigal M. Pinto, Roddy Walsh, Ahmad Amin, R. T. Lumbers, Rafik Tadros, Hugh Watkins, Connie R. Bezzina, HCM GWAS Collaborators
| Nature Verified
Abstract Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality, with pathogenic variants found in about a third of cases. Large-scale genome-wide association studies (GWAS) demonstrate that common genetic variation contributes to HCM risk. Here we derive polygenic scores (PGS) from HCM GWAS and genetically correlated traits and test their performance in the UK Biobank, 100,000 Genomes Project, and clinical cohorts.
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