What's New

Last Posted: Apr 18, 2019

• Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
  Headrick Andrew T et al. Molecular genetics & genomic medicine 2019 Apr e593
• Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey.
  McVeigh Terri Patricia et al. European journal of human genetics : EJHG 2019 Apr
• Recent understanding of clinical sequencing and gene-based risk stratification in inherited primary arrhythmia syndrome.
  Aiba Takeshi et al. Journal of cardiology 2019 May 73(5) 335-342
• Perceptions of genetic variant reclassification in patients with inherited cardiac disease.
  Wong Eugene K et al. European journal of human genetics : EJHG 2019 Mar
• Treatment of hereditary and acquired forms of transthyretin amyloidosis in the era of personalized medicine: the role of randomized controlled trials.
  Buxbaum Joel N et al. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2019 Mar 1-11
• Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life.
  Ingles Jodie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2012 14(8) 749-752
• Hypertrophic cardiomyopathy: an updated review on diagnosis, prognosis, and treatment.
  Makavos George et al. Heart failure reviews 2019 Mar
• Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
  van Lint F H M et al. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2019 Mar
• Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trial.
  Burns Charlotte et al. BMJ open 2019 Feb 9(1) e026627
• Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.
  Peña-Peña Maria Luisa et al. Revista espanola de cardiologia (English ed.) 2019 Feb
• The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
  Koh Ai-Ling et al. Molecular genetics & genomic medicine 2019 Feb e581
• Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
  Jääskeläinen Pertti et al. ESC heart failure 2019 Feb
• Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics.
  Vischer Annina S et al. International journal of cardiology 2019 Jan
• Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes.
  Bleeker Jeannette C et al. Journal of inherited metabolic disease 2019 Feb
• Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
  Aljeaid Deema et al. American journal of medical genetics. Part A 2019 Feb