Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis PI, Mazaika E, Allouba M, de Marvao A, Pua CJ, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Olivotto I, Gunnarsson GT, Jefferies JL, Semsarian C, Ingles J, O’Regan D, Aguib Y, Yacoub MH, Cook SA, Barton PJR, Bottolo L, Ware JS. Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions. Genetics In Medicine 2020, 23: 69-79. PMID: 33046849, PMCID: PMC7790749, DOI: 10.1038/s41436-020-00972-3.Peer-Reviewed Original ResearchConceptsRare missense variantsCardiac conditionsSevere adverse outcomesMissense variantsDisease-specific informationAdverse outcomesClinical severityPatient outcomesHypertrophic cardiomyopathyAge 60Disease statusDisease specificityFunction variantsBenign variantsCardiomyopathyRare variationProportion of variantsDisease-associated variantsOutcomesVariant interpretationProbability of pathogenicityGene-disease relationshipsVariant pathogenicity predictionPatientsArrhythmiasAssociation of Obesity With Adverse Long-term Outcomes in Hypertrophic Cardiomyopathy
Fumagalli C, Maurizi N, Day SM, Ashley EA, Michels M, Colan SD, Jacoby D, Marchionni N, Vincent-Tompkins J, Ho CY, Olivotto I. Association of Obesity With Adverse Long-term Outcomes in Hypertrophic Cardiomyopathy. JAMA Cardiology 2020, 5: 65-72. PMID: 31693057, PMCID: PMC6865784, DOI: 10.1001/jamacardio.2019.4268.Peer-Reviewed Original ResearchMeSH KeywordsAdultArrhythmias, CardiacAtrial FibrillationBody Mass IndexCardiomyopathy, HypertrophicCohort StudiesDeath, Sudden, CardiacDefibrillators, ImplantableDisease ProgressionElectric CountershockFemaleHeart ArrestHeart FailureHeart TransplantationHeart-Assist DevicesHumansMaleMiddle AgedMortalityObesityRetrospective StudiesStrokeStroke VolumeVentricular Outflow ObstructionConceptsOverall composite outcomeLong-term outcomesHypertrophic cardiomyopathyComposite outcomeObstructive physiologyAdverse outcomesSarcomeric Human Cardiomyopathy RegistryAdverse long-term outcomesLong-term adverse outcomesLife-threatening ventricular arrhythmiasHeart failure outcomesHeart failure symptomsAssociation of obesityDisease-related complicationsNormal weight groupBody mass indexOverall disease progressionBody weight increaseHCM centersAtrium diameterBaseline BMIObesity groupCardiovascular mortalityCohort studyMass index