What's New

Last Posted: Feb 15, 2019

• Awareness of Fabry disease in cardiology: A gap to be filled.
  Brito Dulce et al. Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2018 37(6) 457-466
• Fabry disease: Review and experience during newborn screening.
  Hsu Ting-Rong et al. Trends in cardiovascular medicine 2018 28(4) 274-281
• Fatty acid oxidation disorders.
  Merritt J Lawrence et al. Annals of translational medicine 2018 Dec 6(24) 473
• Contemporary characteristics and outcomes of adults with familial dilated cardiomyopathy listed for heart transplantation.
  Khayata Mohamed et al. World journal of cardiology 2019 Jan 11(1) 38-46
• Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
  Ingles Jodie et al. Circulation. Genomic and precision medicine 2019 Jan
• Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
  Walsh Roddy et al. Genome medicine 2019 Jan 11(1) 5
• Targeted next-generation sequencing in Slovak cardiomyopathy patients.
  Nagyova E et al. Bratislavske lekarske listy 2019 120(1) 46-51
• Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management.
  Peters Stacey et al. Heart, lung & circulation 2019 Jan 28(1) 31-38
• Life-threatening arrhythmic presentation in patients with arrhythmogenic cardiomyopathy before and after entering the genomic era; a two-decade experience from a large volume center.
  Rootwelt-Norberg Christine et al. International journal of cardiology 2018 Dec
• [Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test].
  Bouman Arjan et al. Nederlands tijdschrift voor geneeskunde 2018 162
• Cost Efficacy of ?-Galactosidase A Enzyme Screening for Fabry Disease.
  Newman Darrell B et al. Mayo Clinic proceedings 2019 Jan 94(1) 84-88
• Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis.
  Anderson Kailyn et al. Congenital heart disease 2018 Dec
• Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
  Thomson Kate L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
• FDA takes new action to advance the development of reliable and beneficial genetic tests that can improve patient care
  FDA Press Release, December 4, 2018
• Hypertrophic cardiomyopathy: A complex disease.
  Young Laura et al. Cleveland Clinic journal of medicine 2018 May 85(5) 399-411