Cardiogenetics

Metabolic and Genetic Bases of Cardiovascular Diseases

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Special Issue Editor

Dr. Elisabete Martins

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Guest Editor

1. Faculty of Medicine, University of Porto, Porto, Portugal
2. Cardiology Department, Centro Hospitalar Universitário São João, São João, Portugal
Interests: cardiogenetics; cardiomyopathies; cardiovascular imaging; heart failure

Special Issue Information

Dear Colleagues,

In the last few years, we have witnessed growing knowledge of the genetic basis of cardiomyopathies and their clinical as well as imaging characteristics, which contributes to a more personalized patient approach; however, tailored therapies that could alter or revert phenotypes are lacking in most genetic cardiomyopathies. Contributing to these is the persisting knowledge gap concerning pathophysiological processes involved in the cardiomyopathy remodeling of heterogeneous, rare, and complex cardiomyopathies.

In this Special Issue, entitled "Metabolic and Genetic Bases of Cardiomyopathies", we welcome articles (clinical reports, case series, and human tissue models) on genetic cardiomyopathies that report changes in imaging, serum, histological, or omic (e.g., metabolomic) biomarkers that put the cardiac remodeling process into perspective. These disease surrogate biomarkers could contribute to developing new diagnoses and prognostic tools or identifying new therapeutic targets.

Dr. Elisabete Martins
Guest Editor

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Keywords

metabolism
apoptosis
autophagy
fibrosis
inflammation
biomarkers
omics
innervation

Published Papers (2 papers)

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Research

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13 pages, 1234 KiB

Open AccessArticle

Gene Polymorphisms LEP, LEPR, 5HT2A, GHRL, NPY, and FTO-Obesity Biomarkers in Metabolic Risk Assessment: A Retrospective Pilot Study in Overweight and Obese Population in Romania

by Ovidiu Nicolae Penes, Bernard Weber, Anca Lucia Pop, Mihaela Bodnarescu-Cobanoglu, Valentin Nicolae Varlas, Aleksandru Serkan Kucukberksun, Dragos Cretoiu, Roxana Georgiana Varlas and Cornelia Zetu

Cardiogenetics 2024, 14(2), 93-105; https://doi.org/10.3390/cardiogenetics14020008 (registering DOI) - 20 May 2024

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Abstract

Genome-wide association studies (GWAS) have successfully revealed numerous susceptibility loci for obesity. The PREDATORR study (2014) shows that in Romania, 346% of adults aged 20–79 y/o are overweight, and 31.4% are obese with a high risk of cardiometabolic complications, a number that puts almost 67% of Romania’s population in the abnormal weight group. Our study aims to investigate the current status of the genetic foundation in metabolic disease associated with obesity, applied to a pilot group of patients specifically examining the impact of known polymorphisms and their haplotype of six food intake-regulating genes, namely leptin (LEP), leptin receptor (LEP-R), serotonin receptor (5HTR2A), ghrelin (GHRL), neuropeptide Y (NPY), and fat-mass and obesity-associated protein (FTO) with the following polymorphisms: LEP A-2548G, LEPR A-223G, 5HTR2A G-1439A, GHRL G-72T, NPY T-29063C, FTO A-T, and body mass index (BMI). A notable link between the LEP-2548 rs7799039 gene’s AG genotype and the risk of obesity was observed, particularly pronounced in males aged 40–49, with an approximately seven-fold increased likelihood of obesity. The 5HTR2A rs6311 AA genotype was associated with a higher BMI, which was not statistically significant. The FTO rs9939609 gene’s AA genotype emerged as a significant predictor of obesity risk. Besides these significant findings, no substantial associations were observed with the LEPR, 5HTR2A, GHRL, and NPY genes. Haplotype association analysis showed a suggestive indication of GRGMLA (rs7799039, rs1137101, rs6311, rs696217, rs16139, rs9939609 sequence) haplotype with a susceptibility effect towards obesity predisposition. Linkage disequilibrium (LD) analysis showed statistically significant associations between LEP and LEPR gene (p = 0.04), LEP and GHRL gene (p = 0.0047), and GHRL and FTO gene (p = 0.03). Our study, to the best of our knowledge, is one of the very few on the Romanian population, and aims to be a starting point for further research on the targeted interventional strategies to reduce cardiometabolic risks. Full article

(This article belongs to the Special Issue Metabolic and Genetic Bases of Cardiovascular Diseases)

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10 pages, 3377 KiB

Open AccessCase Report

Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant

by Gabriela Dostalova, Jaroslav Januska, Michaela Veselá, Petra Reková, Anna Taborska, Martin Pleva, David Zemanek and Aleš Linhart

Cardiogenetics 2024, 14(2), 74-83; https://doi.org/10.3390/cardiogenetics14020006 - 7 Apr 2024

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Abstract

Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency. The metabolic defect leads to the progressive accumulation of glycosphingolipids and the structural and functional impairment of affected organs. Due to the inheritance pattern, male patients are hemizygous with more severe manifestations of the disease as compared to females who, in most cases, are heterozygous with delayed and variable clinical presentation caused by uneven X-chromosome inactivation. Fabry disease cases are often identified by targeted screening programs in high-risk groups, such as in patients with end-stage renal disease, premature stroke, or unexplained cardiomyopathy. Here, we describe a unique case of a homozygous female patient identified by a nationwide screening program in hypertrophic cardiomyopathy patients. Before the systematic screening, the patient had a diagnosis of hypertrophic obstructive cardiomyopathy and was treated accordingly, including with alcohol septal ablation to reduce the obstructive gradient. The confirmation of Fabry disease led to the discovery of the same variant in several members of her family. The identified variant was c.644A>G, p.Asn215Ser (p.N215S), which is known to cause predominant cardiac involvement with late onset of the disease. This variant is amenable to oral therapy with the small-molecule chaperone migalastat, which was started and then interrupted due to the recurrence of the patient’s migraine and then re-initiated again after two years. During this period, the patient received enzyme replacement therapy with agalsidase beta but developed progressively worsening venous access. Our case illustrates the importance of the systematic screening of patients with clinical evidence of hypertrophic cardiomyopathy in whom the routine diagnostic process fails to discover Fabry disease, in particular variants with late-onset cardiac manifestations. Many of the late-onset variants are amenable to orally active therapy with migalastat, which significantly improves the comfort of the treatment. Its long-term results are being analyzed by a large international “Follow-me” registry, which was designed to verify the validity of pivotal trials with migalastat in Fabry disease. Full article

(This article belongs to the Special Issue Metabolic and Genetic Bases of Cardiovascular Diseases)

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