Publications by authors named "K Savvatis"
Hypertrophic cardiomyopathy management: a systematic review of the clinical practice guidelines and recommendations.
Eur Heart J Qual Care Clin Outcomes
January 2025
Aims: In light of recent advances in imaging techniques, molecular understanding and therapeutic options in hypertrophic cardiomyopathy (HCM), we performed a systematic review of current guidelines for the diagnosis and management of HCM in order to identify consensus and discrepant areas in the clinical practice guidelines.
Methods And Results: We systematically reviewed the English language guidelines and recommendations for the management of HCM in adults. MEDLINE and EMBASE databases were searched for guidelines published in the last 10 years.
Article Synopsis
- A significant number of patients with cardiomyopathy have undetermined genetic causes, prompting researchers to analyze mtDNA variants in these cases through the 100,000 genomes project.
- The study scrutinized 1,363 genomes, identifying the pathogenic MT-TI m.4300A>G variant in four hypertrophic cardiomyopathy patients who had previously been undiagnosed, representing 0.6% of HCM cases without a known genetic cause.
- Findings suggest that MT-TI should be included in the initial genetic testing for non-syndromic hypertrophic cardiomyopathy to aid in diagnosing patients.
Article Synopsis
- The study investigates mitral annulus disjunction (MAD) using cardiac MRI in a group of 222 patients with an average age of 49.2 years, primarily male (56.8%).
- MAD is identified by a separation of 2 mm or more between the left ventricular myocardium and the mitral annulus, and the study analyzes late gadolinium enhancement (LGE) patterns and ventricular arrhythmias (VA).
- Results show that although non-sustained ventricular arrhythmias were more common in patients with greater MAD extent, no strong relationship between LGE and MAD severity was found, with no observed sustained VAs during the follow-up period of approximately 4 years.
Pathogenic truncating filamin C mutations presenting as acute myocarditis: a case series with insights from cardiac magnetic resonance and histological analysis.
Eur Heart J Case Rep
March 2024
Background: The exact mechanisms underlying the pathogenesis of myocarditis are not always understood, but there is emerging evidence to suggest that genetic factors may play a significant role.
Case Summary: Herein, we present six cases in which clinical, biochemical, and cardiovascular magnetic resonance data were consistent with myocarditis, and genetic testing subsequently revealed pathogenic filamin C (FLNC) mutations. Three patients presented with ventricular arrhythmias, two with severe biventricular dysfunction, and two suffered sudden cardiac arrest.
Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy worldwide. With increasing survival, there is now a greater awareness of associated neurodevelopmental co-morbidities. Despite this, there is currently a limited understanding of how these co-morbidities might potentially impact on health outcomes.
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