Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review.

Background: Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of the leading causes of cardiac transplantations and cardiac death in young individuals. Clinically they vary from asymptomatic to symptomatic heart failure, with a high risk of sudden cardiac death due to malignant arrhythmias. With the increasing availability of genetic testing, a significant number of affected people are found to have an underlying genetic etiology. However, the awareness of the benefits of incorporating genetic test results into the care of these patients is relatively low. Aim: The focus of this review is to summarize the current basis of genetic CMs, including the most encountered genes associated with the main types of cardiomyopathies: hypertrophic, dilated, restrictive arrhythmogenic, and non-compaction. Materials and Methods: For this narrative review, we performed a search of multiple electronic databases, to select and evaluate relevant manuscripts. Results: Advances in genetic diagnosis led to better diagnosis precision and prognosis prediction, especially with regard to the risk of developing arrhythmias in certain subtypes of cardiomyopathies. Conclusions: Implementing the genomic information to benefit future patient care, better risk stratification and management, promises a better future for genotype-based treatment.

Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients.

Dilated cardiomyopathy (DCM) represents a group of disorders affecting the structure and function of the heart muscle, leading to a high risk of heart failure and sudden cardiac death (SCD). DCM frequently involves an underlying genetic etiology. Genetic testing is valuable for risk stratification, treatment decisions, and family screening. Romanian population data on the genetic etiology of DCM are lacking. We aimed to investigate the genetic causes for DCM among Romanian adult patients at tertiary referral centers across the country. Clinical and genetic investigations were performed on adult patients presenting to tertiary hospitals in Romania. The genetic investigations used next-generation sequencing panels of disease-associated DCM genes. A total of 122 patients with DCM underwent genetic testing. The mean age at DCM diagnosis was 41.6 ± 12.4 years. The genetic investigations identified pathogenic or likely pathogenic variants in 50.8% of participants, while 25.4% had variants of unknown significance. Disease-causing variants in 15 genes were identified in people with DCM, with 31 previously unreported variants. Variants in TTN, LMNA, and DSP explained 75% of genetic causes for DCM. In total, 52.4% of patients had a family history of DCM/SCD. Left ventricular ejection fraction of <35% was observed in 41.9% of patients with disease-causing variants and 55% with negative or uncertain findings. Further genotype-phenotype correlations were explored in this study population. The substantial percentage (50.8%) of disease-causing variants identified in patients with DCM acknowledges the importance of genetic investigations. This study highlights the genetic landscape in genes associated with DCM in the Romanian population.

What if body fat percentage association with FINDRISC score leads to a better prediction of type 2 diabetes mellitus?

INTRODUCTION: Nowadays, the efforts regarding the prevention of type 2 diabetes mellitus (T2DM) are focused on decreasing overweight, obesity and visceral fat accumulation or percent body fat (PBF) risk factors. AIM: The aim of this study was to investigate whether use of bioelectrical impedance analysis (BIA) for measuring PBF could be a reliable method to improve risk assessment of T2DM. Participants, Materials and Methods: This cross-sectional study performed in 2016 enrolled 341 healthy medical students from western Romania, aged 18 to 44 years old, 143 females and 198 males. Anthropometric measurements, PBF (BIA machine InBody720®) determination, along with the Finnish Diabetes Risk (FINDRISC) assessment form, were performed for each participant. RESULTS: 27.6% of the entire cohort was determined as being overweighed and 12% obese. FINDRISC score showed that 5% from the entire group have a moderate to very high risk to develop T2DM in the following 10 years. FINDRISC score was correlated with waist-to-hip ratio (WHR) and PBF showing strong and positive correlations to both parameters (WHR: 0.477, p<0.001; PBF: 0.561, p<0.001). DISCUSSIONS: Our results indicate a stronger correlation between FINDRISC score with PBF compared to FINDRISC and WHR for the entire cohort, and for both males and females. CONCLUSIONS: We recommend PBF measured by BIA (respecting quality control procedures) as a potential parameter to be considered into the risk model predictions for T2DM, as it is an accessible and affordable tool to use in the primary level of healthcare.