Publication date: Available online 25 March 2020Source: IJC Heart &VasculatureAuthor(s): Murillo de Oliveira Antunes, Thiago Luis Scudeler
AbstractPurpose of reviewRapid advancements in technology and electronic medical record systems have given rise to massive amounts of cardiac imaging data with the potential to alter medical practices. The rise of machine learning (ML) and radiomics – the concept that images contain invaluable data regarding disease processes beyond what the eyes can see – promises increased precision and accuracy to the current standard of care. Recent advancements in major cardiac imaging modalities, such as echocardiography, cardiac CT and cardiac MRI, h ave uncovered promising diagnostic and prognostic information through t...
Publication date: Available online 9 October 2020Source: The Annals of Thoracic SurgeryAuthor(s): Stijn Vanstraelen, Jeroen Vandenbrande, Alaaddin Yilmaz
Publication date: Available online 7 October 2020Source: European Journal of RadiologyAuthor(s): Rui Wu, Dong-Aolei An, Ruo-Yang Shi, Bing-hua Chen, Chong-Wen Wu, Meng Jiang, Jian-Rong Xu, Lian-Ming Wu, Jun Pu
Condition: Cardiomyopathy, Hypertrophic Intervention: Other: PET Scan Sponsors: Massachusetts General Hospital; Brigham and Women's Hospital; National Heart, Lung, and Blood Institute (NHLBI) Recruiting
To determine the potential impact of referral bias on short and long-term outcomes following septal myectomy for hypertrophic cardiomyopathy (HCM).
Hypertrophic cardiomyopathy (HCM) is a very intriguing heritable disease, definied as left ventricular hypertrophy in the absence of a secondary cause. The heterogenity in phenotypic expression makes treatment of patients very challenging. Fortunately, most patients have a benign prognosis, however in a subset of patients the clinical outcome is less favourable as patients present with symptoms of congestive heart failure or sudden cardiac death . Symptoms are often related to left ventricular outflow tract (LVOT) obstruction.
Conclusions: Our study found that HCM-associated TNNT2 variants increased cardiac microtissue contraction, while DCM-associated variants cause decreased contraction, both of which paralleled changes in myofilament calcium affinity. Transcriptomic changes, including NPPB levels, directly correlated with sarcomere function and can be utilized to predict TNNT2 variant pathogenicity. PMID: 33025817 [PubMed - as supplied by publisher]
In this study, we describe an HCM cohort with a missense variant in CSRP3 (p.Cys150Tyr) with supporting evidence for pathogenicity and a description of the associated phenotype. METHODS: CSRP3 was sequenced in 6,456 index cases with a diagnosis of HCM and in 5,012 probands with other cardiomyopathies. In addition, 3,372 index cases with hereditary cardiovascular disorders other than cardiomyopathies (mainly channelopathies and aortopathies) were used as controls. RESULTS: The p.(Cys150Tyr) variant was identified in 11 unrelated individuals of the 6,456 HCM probands, and it was not identified in patients with othe...
Hypertrophic cardiomyopathy (HCM) is the most common heritable heart disease. Although the genetic cause of HCM has been linked to mutations in genes encoding sarcomeric proteins, the ability to predict clinical outcomes based on specific mutations in HCM patients is limited. Moreover, how mutations in different sarcomeric proteins can result...