BACKGROUND: @entity661 ( @entity661 ) is a poorly understood condition associated with periods of emotional and physical stress. The clinical approaches for management of @entity661 are supportive and reactive to @entity1 symptoms. OBJECTIVE: To utilize next-generation exome sequencing to define genetic variation associated with, and potentially responsible for, this disease. METHODS: We performed exome sequencing of 7 white female @entity1 with @entity661 . Filtering of the identified variants was performed to limit our investigation to those sequences that passed quality control criteria, were rare or novel, were determined algorithmically to have high impact on the associated protein, and were within regions of high species conservation. All variants were verified by using Sanger sequencing. RESULTS: Exome-sequencing analysis revealed that each @entity1 carried predicted deleterious variants affecting known @entity296 genes. In each case, the identified variant was either not previously found in public @entity1 genome data or was previously annotated in a database of clinical variants associated with @entity299 . CONCLUSION: @entity1 with @entity661 harbor deleterious mutations in established @entity296 genes at a level higher than healthy controls. We hypothesize that @entity1 at highest risk for @entity661 likely live in a compensated state of @entity299 that manifests clinically only after the myocardium is stressed. In short, we propose that @entity661 is another example of an @entity296 with a distinct physiological trigger and suggest that alternative clinical approaches to these @entity1 may be warranted. ABBREVIATIONS: CADD, Combined Annotation Dependent DepletionFPKM, fragments per kilobase pair of exon per million fragments mappedNHLBI GO ESP, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing ProjectPCR, polymerase chain reactionSIC, stress-induced @entity296 .

Rare Variants in @entity296 Genes Associated With Stress-Induced XXXX .

@entity1 :: ('9606', 'Species') :: ['Patients', 'human', 'patients', 'patient'] @entity296 :: ('MESH:D009202', 'Disease') :: ['cardiomyopathy', 'occult cardiomyopathy'] @entity661 :: ('MESH:D054549', 'Disease') :: ['SIC', 'Stress-induced cardiomyopathy'] @entity299 :: ('MESH:D006331', 'Disease') :: ['cardiac dysfunction']
@entity296 :: (MESH:D009202,Disease) :: ['Cardiomyopathy']
