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Introduction: Hypertrophic cardiomyopathy is a genetic cardiac disease characterized by marked variability in morphological expression and natural history. The hypertrophic myocardium is often confined to the septum or lateral wall of the left ventricle, but it can also be encountered in the middle or apical segments of the myocardium. Treatment is based on medical therapy. Others therapies, such as embolization of the septal artery or ventriculomyectomy, are indicated in special situations. Surgery is the standard treatment, and it is classically done via a transaortic approach; however, in cases in which the hypertrophic myocardium is confined to mid-apical segments, a transapical approach is an option. Only a few cases of mid-apical obstructive hypertrophic cardiomyopathy treated with a myectomy using a transapical approach have been reported in the English-language literature. In this report, we present a case of a patient with mid-apical obstructive hypertrophic cardiomyopathy treated using this new approach.
Case Presentation: A 63-year-old Caucasian woman presented with a history of chest pain and shortness of breath causing significant limitations on her daily life activities. She had a history of coronary artery disease. Her physical examination was unremarkable. Transthoracic echocardiography revealed normal systolic function and significant concentric left ventricular hypertrophy that was greater in the mid-apical region. Nuclear magnetic resonance imaging confirmed significant hypertrophy of the median segments of the left ventricle. The patient had persistent symptoms despite receiving optimized medical treatment, and a surgical approach was indicated. As a myectomy using transaortic technique was thought to be difficult to perform in her case, a transapical approach was used. No complications occurred, and her symptoms resolved.
Conclusion: A transapical myectomy should be taken into consideration for patients with mid-apical obstructive hypertrophic cardiomyopathy that is refractory to medical treatment.
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http://dx.doi.org/10.1186/1752-1947-8-364 | DOI Listing |
Orphanet J Rare Dis
December 2024
Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.
Background: GTPBP3 catalyzes τm(s) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τmU leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain.
Methods: By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified.
Background: Hypertrophic cardiomyopathy (HCM) is a common heritable heart disease where the most frequently associated mutations occur in the myosin-binding protein C () sarcomere-associated gene. HCM is also a common veterinary clinical problem in certain cat breeds such as Maine Coons and Ragdolls, also most associated with mutations in . Mouse models of HCM in which mutations are introduced recapitulate some, but not all, features of human HCM.
View Article and Find Full Text PDFJ Am Heart Assoc
December 2024
Hypertrophic Cardiomyopathy Center, Heart, Vascular and Thoracic Institute Cleveland Clinic Cleveland OH USA.
Background: In obstructive hypertrophic cardiomyopathy, myectomy improves symptoms, quality of life, and left ventricular (LV) outflow tract gradients. We prospectively evaluated the temporal changes in various echo parameters after myectomy.
Methods And Results: In 173 adults with obstructive hypertrophic cardiomyopathy (53±10 years, 63% men) who underwent myectomy between March 2017 and June 2020, clinical and blinded echo assessment (before and at 12±6 months follow-up) was performed prospectively (SPIRIT-HCM [Quality of Life and Functional Capacity Following Septal Myectomy in Obstructive Patients With Hypertrophic Cardiomyopathy]).
Cardiol Rev
November 2024
Department of Cardiac and Thoracic Surgery, Trier Heart Centre, Trier, Germany.
The 2020 American Heart Association Guidelines advise not to perform mitral valve replacement (MVR) during septal myectomy (SM) to alleviate outflow obstruction. This study aims to review outcomes after concomitant mitral valve (MV) intervention versus SM alone. We conducted a comprehensive literature search across Embase, PubMed, and Scopus.
View Article and Find Full Text PDFThe super-relaxed (SRX) state of myosin ATPase activity is critical for striated muscle function, and its dysregulation is linked to cardiomyopathies. It is unclear whether the SRX state exchanges readily with the disordered-relaxed (DRX) state, and whether the SRX state directly corresponds to the folded back interacting-head motif (IHM). Using recombinant β-cardiac heavy meromyosin (HMM) and subfragment 1 (S1), which cannot form the IHM, we show that the SRX and DRX populations are in rapid equilibrium, dependent on myosin head-tail interactions.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!