Gated magnetic resonance tomography (MRT) was conducted in 40 patients (13 normal volunteers, 9 hypertensives and 18 patients with hypertrophic cardiomyopathy) using a 0.35 Tesla superconducting magnet. Multisectional spin echo imaging (35/400 msec) was obtained in coronal, transversal and sagittal planes. Myocardial wall thickness was measured in different segments and the three groups were compared to each other. 15/18 patients with hypertrophic cardiomyopathy (HCM) had asymmetrical regional thickening involving the septum and the anterior wall, in 8/15 the lateral wall was also hypertrophic. The distribution pattern in 3/15 patients with HCM was symmetric. Involvement of the right ventricle was found in 14/18 patients with HCM. There were significant differences (p less than 0.001) in wall thickness for the septal segment in all three groups and for the ratio septal to posterior wall between the HCM and the hypertensives and the normal volunteers. We conclude that MRT can differentiate HCM from hypertensives and normals, and is superior to echocardiographic imaging in the evaluation of the distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy.
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Front Transplant
December 2024
Pediatric Cardiology and Adult with Congenital Heart Disease Unit, Instituto do Coração (InCor) do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Background: Cardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its uncommon cause is a disease due to mutation on Filamin C (FLNC) gene. Filamin C is an actin-binding protein encoded by FLNC gene and participates in sarcomere stability maintenance, which is expressed on the striated muscle.
View Article and Find Full Text PDFCardiol Young
January 2025
Department of Pediatrics, Division of Cardiology, Loma Linda Children's Hospital, Loma Linda, CA, USA.
We describe a case of novel use of trametinib in treating arrythmia without concomitant cardiomyopathy. Our patient is a two-year-old female born with Costello syndrome due to heterozygous mutations in the HRAS gene c34 G > T p (G12C). Shortly after birth, she was diagnosed with multifocal atrial tachyarrhythmia.
View Article and Find Full Text PDFSci Rep
January 2025
Division of Cardiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Myocyte disarray and fibrosis are underlying pathologies of hypertrophic cardiomyopathy (HCM) caused by genetic mutations. However, the extent of their contributions has not been extensively evaluated. In this study, we investigated the effects of genetic mutations on myofiber function and fibrosis patterns in HCM.
View Article and Find Full Text PDFSports Med
January 2025
Department of Sports Medicine, Pontchaillou Hospital, Rennes, France.
Background: Although many studies have demonstrated a lower incidence of sudden cardiac arrest or death (SCA/D) in female athletes than in male, there is limited understanding of the specific underlying causes.
Objective: This systematic review aimed to assess the disparities in SCA/D incidence between male and female competitive athletes and explore the associated etiologies.
Methods: A comprehensive search was conducted for retrospective and prospective studies examining SCA/D incidence in male and female athletes.
Monaldi Arch Chest Dis
December 2024
Cardiology Division, Regina Montis Regalis Hospital, ASLCN1, Mondovì.
We presented a case of a 49-year-old presenting with atypical chest pain and hypertrophic phenotype cardiomyopathy without coronary artery disease. At cardiac magnetic resonance (CMR), the left ventricle was of normal volumes and preserved global ejection fraction with an asymmetric wall hypertrophy. The evaluation of native myocardial T1 has been calculated at an average global value of 924 ms, compatible with hypertrophic phenotype cardiomyopathy with reduced native T1 values as observed in Anderson-Fabry disease.
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