Hypertrophic cardiomyopathy (HCM) is a relatively common inherited cardiac condition with a prevalence of approximately one in 500. It results in otherwise unexplained hypertrophy of the myocardium and predisposes the patient to a variety of disease-related complications including sudden cardiac death. Echocardiography is of vital importance in the diagnosis, assessment and follow-up of patients with known or suspected HCM. The British Society of Echocardiography (BSE) has previously published a minimum dataset for transthoracic echocardiography, providing the core parameters necessary when performing a standard echocardiographic study. However, for patients with known or suspected HCM, additional views and measurements are necessary. These additional views allow more subtle abnormalities to be detected or may provide important information in order to identify patients with an adverse prognosis. The aim of this Guideline is to outline the additional images and measurements that should be obtained when performing a study on a patient with known or suspected HCM.
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http://dx.doi.org/10.1530/ERP-14-0115 | DOI Listing |
J Korean Med Sci
December 2024
Division of Cardiology, Severance Cardiovascular Hospital, Yonsei University College of Medicine, Seoul, Korea.
Background: Hypertrophic cardiomyopathy (HCM) needs careful differentiation from other cardiomyopathies. Current guidelines recommend genetic testing, but genetic data on differential diagnoses and their relation with clinical outcomes in HCM are still lacking. This study aimed to investigate the prevalence of genetic variants and the proportion of other cardiomyopathies in patients with suspected HCM in Korea and compare the outcomes of HCM according to the presence of sarcomere gene mutation.
View Article and Find Full Text PDFCureus
November 2024
Department of Medical Genetics, Institute of Science Tokyo, Tokyo, JPN.
Filamin C (FLNC), recently identified as a causative gene of cardiomyopathy, is widely expressed in cardiomyocytes and is involved in signal transduction between the sarcomere and the plasma membrane. In general, the FLNC truncating variant causes severe dilated cardiomyopathy. A 70-year-old female was referred to our hospital with advanced conduction defects and underwent pacemaker implantation.
View Article and Find Full Text PDFAm J Hum Genet
December 2024
Alexion, AstraZeneca Rare Disease, Boston, MA 02210, USA.
Genome-sequence-based newborn screening (gNBS) has substantial potential to improve outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major impediment to gNBS is imprecision due to variants classified as pathogenic (P) or likely pathogenic (LP) that are not SCGD causal. gNBS with 53,855 P/LP variants, 342 genes, 412 SCGDs, and 1,603 therapies was positive in 74% of UK Biobank (UKB470K) adults, suggesting 97% false positives.
View Article and Find Full Text PDFJACC Cardiovasc Imaging
November 2024
Heart, Vascular, and Thoracic Institute, Cleveland Clinic, Cleveland, Ohio, USA; Cardiovascular Innovations Research Center, Cleveland Clinic, Cleveland, Ohio, USA; Diagnostic Services Institute, Cleveland Clinic, Cleveland, Ohio, USA. Electronic address:
Background: Cardiac magnetic resonance (CMR) imaging is an important diagnostic tool for diagnosis of cardiac amyloidosis (CA). However, discrimination of CA from other etiologies of myocardial disease can be challenging.
Objectives: The aim of this study was to develop and rigorously validate a deep learning (DL) algorithm to aid in the discrimination of CA using cine and late gadolinium enhancement CMR imaging.
Open Vet J
September 2024
Department of Veterinary Medicine, Faculty of Veterinary Science, Chulalongkorn University, Bangkok, Thailand.
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