You seem to have javascript disabled. Please note that many of the page functionalities won't work as expected without javascript enabled.

Search for Articles:

Title / Keyword

Author / Affiliation / Email

Journal

Article Type

Advanced Search

Section

Special Issue

Volume

Issue

Number

Page

Logical OperatorOperator

Search Text

Search Type

Review of p.(Val429Met), a Variant of LDLR That Is Associated with Familial Hypercholesterolemia
Circulating Cell-Free Nuclear DNA Predicted an Improvement of Systolic Left Ventricular Function in Individuals with Chronic Heart Failure with Reduced Ejection Fraction

Journal Description

Cardiogenetics

Cardiogenetics is an international, scientific, peer-reviewed, open access journal, published quarterly online by MDPI (from Volume 10 Issue 2 - 2020).

Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
High Visibility: indexed within ESCI (Web of Science), Embase, and other databases.
Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 43.2 days after submission; acceptance to publication is undertaken in 5.9 days (median values for papers published in this journal in the first half of 2024).
Recognition of Reviewers: APC discount vouchers, optional signed peer review, and reviewer names published annually in the journal.

Impact Factor: 0.5 (2023)

Imprint Information Journal Flyer Open Access ISSN: 2035-8148

Latest Articles

26 pages, 2427 KiB

Open AccessReview

Exosome-Derived microRNAs in Hypertrophic Cardiomyopathy

by Brian Xiangzhi Wang

Cardiogenetics 2024, 14(4), 228-253; https://doi.org/10.3390/cardiogenetics14040019 - 9 Dec 2024

Hypertrophic cardiomyopathy (HCM), characterized by myocardial hypertrophy and an increased risk of sudden cardiac death, poses a significant health burden worldwide. Recent studies have revealed the involvement of exosome-derived microRNAs (miRNAs) in the pathogenesis of HCM, shedding light on novel regulatory mechanisms in [...] Read more.

Hypertrophic cardiomyopathy (HCM), characterized by myocardial hypertrophy and an increased risk of sudden cardiac death, poses a significant health burden worldwide. Recent studies have revealed the involvement of exosome-derived microRNAs (miRNAs) in the pathogenesis of HCM, shedding light on novel regulatory mechanisms in cardiac remodeling and dysfunction. This literature review synthesizes current evidence on the role of exosome-derived miRNAs in HCM. It discusses key miRNAs identified from diverse cellular origins, including cardiomyocytes, stem cells, and conduction cells, elucidating their contributions to hypertrophic signaling pathways, fibrosis, and changes in cellular metabolism. Notable miRNAs highly expressed in exosomes such as miR-1, miR-133, and miR-208 are highlighted for their implications in HCM pathophysiology. Moreover, this review explores the diagnostic and therapeutic potential of exosome-derived miRNAs as biomarkers and therapeutic targets in HCM management. The studies summarized in this review demonstrate that exosome-derived miRNAs play a crucial role in orchestrating the molecular events underlying HCM, offering new insights into disease mechanisms and potential therapeutic avenues. Understanding the intricate interplay between exosome-mediated miRNA communication and HCM pathophysiology holds promise for the development of personalized diagnostic tools and targeted therapies to improve patient outcomes in HCM. Full article

(This article belongs to the Section Biomarkers)

► Show Figures

Figure 1

7 pages, 547 KiB

Open AccessArticle

Comprehensive Diagnostic Work-Up for Uncovering the Causes of Sudden Cardiac Death: The Role of Family Members

by Emanuele Monda, Gaetano Diana, Daniele Bruno, Marta Rubino, Giuseppe Palmiero, Federica Verrillo, Chiara Cirillo, Annapaola Cirillo, Adelaide Fusco, Martina Caiazza, Santo Dellegrottaglie, Diego Colonna, Berardo Sarubbi, Pietro Buono, Maria Giovanna Russo and Giuseppe Limongelli

Cardiogenetics 2024, 14(4), 221-227; https://doi.org/10.3390/cardiogenetics14040018 - 9 Dec 2024

Background: The aim of this study was to evaluate the performance of the diagnostic pathway proposed by the European Society of Cardiology (ESC) guidelines for identifying the underlying aetiology of sudden cardiac death (SCD) through the screening of first-degree family members of patients [...] Read more.

Background: The aim of this study was to evaluate the performance of the diagnostic pathway proposed by the European Society of Cardiology (ESC) guidelines for identifying the underlying aetiology of sudden cardiac death (SCD) through the screening of first-degree family members of patients with SCD who either had a negative autopsy or no autopsy performed. Methods: To be eligible for enrolment, patients had to meet the following inclusion criteria: a family history of SCD in a first-degree relative under the age of 50 years; the SCD decedents must not have undergone an autopsy, or if an autopsy was performed, non-cardiac and structural cardiac causes must have been excluded. Patients underwent a comprehensive assessment, including the evaluation of family and medical history, electrocardiography (ECG) and ECG with high precordial leads, Holter ECG monitoring, echocardiography, cardiac magnetic resonance imaging, and exercise stress testing. A sodium channel blocker test (i.e., flecainide test) was performed when other clinical investigations were negative and the suspicion of Brugada syndrome was high. Results: Forty-one patients from 25 different families fulfilled the inclusion criteria and represented the final study cohort. After the comprehensive diagnostic work-up, a total of seven patients from five different families (5/25, 20%) were diagnosed with an inherited cardiac condition: two families with arrhythmogenic right ventricular cardiomyopathy, one with dilated cardiomyopathy, one with non-dilated left ventricular cardiomyopathy, and one with long QT syndrome. Conclusions: The comprehensive cardiologic work-up of relatives of mainly young SCD victims results in the diagnosis of inherited cardiac conditions in one-fifth of cases. Full article

(This article belongs to the Section Inherited Aortic Disease)

► Show Figures

Figure 1

10 pages, 1326 KiB

Open AccessFeature PaperReview

Calcium Release Deficiency Syndrome (CRDS): Rethinking “Atypical” Catecholaminergic Polymorphic Ventricular Tachycardia

by Alessandra P. Porretta, Etienne Pruvot and Zahurul A. Bhuiyan

Cardiogenetics 2024, 14(4), 211-220; https://doi.org/10.3390/cardiogenetics14040017 - 11 Nov 2024

Since the first description of catecholaminergic polymorphic ventricular tachycardia (CPVT) in the 1970s, new insights have progressively unraveled the understanding of this inherited arrhythmia syndrome. The identification of new distinct clinical entities related to RYR2, the gene encoding the cardiac ryanodine receptor, [...] Read more.

Since the first description of catecholaminergic polymorphic ventricular tachycardia (CPVT) in the 1970s, new insights have progressively unraveled the understanding of this inherited arrhythmia syndrome. The identification of new distinct clinical entities related to RYR2, the gene encoding the cardiac ryanodine receptor, has allowed significant refinement in the diagnosis of previously labeled “atypical” CPVT cases. Among RYR2-ryanodinopathies, the characterization of calcium release deficiency syndrome (CRDS) is still in its infancy and represents a diagnostic challenge due to the need for functional studies which may confirm the loss-of-function nature of the RYR2 variant. The present review summarizes current evidence on CRDS. First, by providing an overview on RYR2 structure and function, we will elucidate the different pathophysiological underpinnings of CRDS and CPVT. Second, by retrieving in detail reported CRDS variants and their clinical phenotypes, we will provide, if any, genetic and clinical red flags that should raise suspicion for CRDS in daily clinical practice. Finally, we will discuss available therapies to provide clinicians with practical therapeutic options for CRDS management. Full article

(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)

► Show Figures

Figure 1

7 pages, 1981 KiB

Open AccessCase Report

Ballooning and Bursting of Barrels and Pipes: A Rare Case of Suspected Vascular Ehlers–Danlos Disease

by Ogechi Agogbuo, Sri Harsha Kanuri, Luis Salinas, Mohamed Goweba, Khashayar Vahdat, Oscar Chastian and Larry Frase

Cardiogenetics 2024, 14(4), 204-210; https://doi.org/10.3390/cardiogenetics14040016 - 6 Nov 2024

Vascular Ehler–Danlos disease (vEDS), a rare subtype of a rare disease, is a life-threatening disease, with an increased risk for spontaneous vascular or visceral rupture. These patients have fatal complications ranging from vascular aneurysms, dissection, and rupture of systemic vessels to frequent thromboembolic [...] Read more.

Vascular Ehler–Danlos disease (vEDS), a rare subtype of a rare disease, is a life-threatening disease, with an increased risk for spontaneous vascular or visceral rupture. These patients have fatal complications ranging from vascular aneurysms, dissection, and rupture of systemic vessels to frequent thromboembolic events, the common causes of death in these individuals with a shortened life span. In the present case, a 28-year-old male with history of shoulder dislocations and spontaneous colon perforation presented to the primary care clinic with right lower extremity swelling and pain. His history includes presentation to the emergency department with left lower leg swelling with compartment syndrome one year prior. A CT angiogram of lower extremities and abdomen revealed acute arterial extravasation of the left posterior tibial artery, indicating a ruptured aneurysm along with aneurysms of the splenic artery and left common iliac artery. He was treated with a saphenous vein graft, but was associated with post-operative complications that necessitated below-knee amputation. CT angiogram of his right leg revealed occlusion of the anterior tibial and peroneal arteries with aneurysms, and, ultimately, he was referred to a tertiary care center for aneurysm embolization. This case report emphasizes the frequent vascular complications encountered in vascular EDS patients, and thus advocates for close and regular monitoring for early referral and surgical management of their vascular anomalies. Finally, genetic counseling and screening of asymptomatic family members should be routinely implemented in these patients. Full article

(This article belongs to the Section Rare Disease-Genetic Syndromes)

► Show Figures

Figure 1

6 pages, 206 KiB

Open AccessCase Report

Unusual Mild Phenotype Presentation in an Elderly Patient with Homozygous Tangier Disease

by Ornella Guardamagna, Renato Bonardi, Raffaele Buganza, Francesco Martino, Livia Pisciotta, Luisa de Sanctis and Pier Paolo Bassareo

Cardiogenetics 2024, 14(4), 198-203; https://doi.org/10.3390/cardiogenetics14040015 - 25 Oct 2024

Tangier disease (TD) is an extremely rare inherited disorder involving lipoprotein metabolism and high-density lipoprotein (HDL) recycling in particular. TD is linked with a mutation of the ABCA1 gene codifying for the transport protein ABCA1 which, in normal conditions, enables the efflux of [...] Read more.

Tangier disease (TD) is an extremely rare inherited disorder involving lipoprotein metabolism and high-density lipoprotein (HDL) recycling in particular. TD is linked with a mutation of the ABCA1 gene codifying for the transport protein ABCA1 which, in normal conditions, enables the efflux of cholesterol through the cell membrane to HDL and apolipoprotein A1. As such, early cardiovascular events and neuropathy are common in these patients, mostly in homozygous carriers. Here, we describe the unique case of a homozygous TD patient whose diagnosis was made in later life. He was affected by the A1046D protein mutation and suffered from mild neurological symptoms and asymptomatic atherosclerosis. Full article

(This article belongs to the Section Rare Disease-Metabolic Diseases)

15 pages, 1448 KiB

Open AccessEditor’s ChoiceArticle

Circulating Cell-Free Nuclear DNA Predicted an Improvement of Systolic Left Ventricular Function in Individuals with Chronic Heart Failure with Reduced Ejection Fraction

by Tetiana Berezina, Oleksandr O. Berezin, Michael Lichtenauer and Alexander E. Berezin

Cardiogenetics 2024, 14(4), 183-197; https://doi.org/10.3390/cardiogenetics14040014 - 1 Oct 2024

Background: Patients with heart failure (HF) with improved ejection fraction (HFimpEF) demonstrate better clinical outcomes when compared with individuals without restoration of cardiac function. The identification of predictors for HFimpEF may play a crucial role in the individual management of HF with reduced [...] Read more.

Background: Patients with heart failure (HF) with improved ejection fraction (HFimpEF) demonstrate better clinical outcomes when compared with individuals without restoration of cardiac function. The identification of predictors for HFimpEF may play a crucial role in the individual management of HF with reduced ejection fraction (HFrEF). Cell-free nuclear (cf-nDNA) DNA is released from damaged cells and contributes to impaired cardiac structure and function and inflammation. The purpose of the study was to elucidate whether cf-nDNA is associated with HFimpEF. Methods: The study prescreened 1416 patients with HF using a local database. Between October 2021 and August 2022, we included 452 patients with chronic HFrEF after prescription of optimal guideline-based therapy and identified 177 HFimpEF individuals. Circulating biomarkers were measured at baseline and after 6 months. Detection of cf-nDNA was executed with real-time quantitative PCR (qPCR) using NADH dehydrogenase, ND2, and beta-2-microglobulin. Results: We found that HFimpEF was associated with a significant decrease in the levels of cf-nDNA when compared with the patients from persistent HFrEF cohort. The presence of ischemia-induced cardiomyopathy (odds ration [OR] = 0.75; p = 0.044), type 2 diabetes mellitus (OR = 0.77; p = 0.042), and digoxin administration (OR = 0.85; p = 0.042) were negative factors for HFimpEF, whereas NT-proBNP ≤ 1940 pmol/mL (OR = 1.42, p = 0.001), relative decrease in NT-proBNP levels (>35% vs. ≤35%) from baseline (OR = 1.52; p = 0.001), and cf-nDNA ≤ 7.5 μmol/L (OR = 1.56; p = 0.001) were positive predictors for HFimpEF. Conclusions: We established that the levels of cf-nDNA ≤ 7.5 μmol/L independently predicted HFimpEF and improved the discriminative ability of ischemia-induced cardiomyopathy, IV NYHA class, and single-measured NT-proBNP and led to a relative decrease in NT-proBNP levels ≤35% from baseline in individuals with HFrEF. Full article

(This article belongs to the Section Biomarkers)

► Show Figures

Figure 1

13 pages, 634 KiB

Open AccessEditor’s ChoiceReview

Review of p.(Val429Met), a Variant of LDLR That Is Associated with Familial Hypercholesterolemia

by Eric F. Jotch and Mark S. Kindy

Cardiogenetics 2024, 14(4), 170-182; https://doi.org/10.3390/cardiogenetics14040013 - 29 Sep 2024

Patients affected by familial hypercholesterolemia possess elevated low-density lipoprotein cholesterol and therefore have greater risk for cardiovascular disease. About 90% of familial hypercholesterolemia cases are associated with aberrant LDLR. Over 3500 LDLR variants have been identified, 15% of which are considered “pathogenic.” [...] Read more.

Patients affected by familial hypercholesterolemia possess elevated low-density lipoprotein cholesterol and therefore have greater risk for cardiovascular disease. About 90% of familial hypercholesterolemia cases are associated with aberrant LDLR. Over 3500 LDLR variants have been identified, 15% of which are considered “pathogenic.” Given the genetic diversity of LDLR variants, specific variants rarely receive attention. However, investigators have proposed the critical evaluation of individual variants as a method to clarify knowledge and to resolve discrepancies in the literature. This article reviews p.(Val429Met) (rs28942078) in the areas of pathology, epidemiology, lipid-lowering therapy, and genetic testing. The p.(Val429Met) variant is associated with a missense point substitution in exon 9 of chromosome 19. Biochemical studies have found severely reduced low-density lipoprotein receptor protein in autologous and heterologous expression systems. Additionally, there are inconsistencies regarding the functional classification of p.(Val429Met). Considered to be of European origin, p.(Val429Met) is found in extant populations due to founder effects. Evidence from clinical trials have also demonstrated variable responses to newer lipid-lowering therapies in patients with a p.(Val429Met) variant. Proper clinical detection and adequate genetic testing have been shown to greatly improve outcomes. Future research may be aimed at resolving discrepancies to better comprehend the implications of familial hypercholesterolemia. Full article

(This article belongs to the Section Molecular Genetics)

► Show Figures

Graphical abstract

21 pages, 1600 KiB

Open AccessReview

Beyond the Beat: Understanding Inherited Risk and Therapeutic Opportunities in Cardiovascular Diseases with Emphasis on Inherited Cardiomyopathies and Inherited Arrhythmic Syndromes

by Antea Krsek, Lara Baticic and Vlatka Sotosek

Cardiogenetics 2024, 14(3), 149-169; https://doi.org/10.3390/cardiogenetics14030012 - 2 Sep 2024

Over the past three decades, significant progress has been made in elucidating the intricate connection between genetic predispositions and cardiovascular diseases (CVDs). Through extensive investigation, numerous genetic variants linked to various cardiovascular conditions have been discovered, shedding crucial light on the underlying biological [...] Read more.

Over the past three decades, significant progress has been made in elucidating the intricate connection between genetic predispositions and cardiovascular diseases (CVDs). Through extensive investigation, numerous genetic variants linked to various cardiovascular conditions have been discovered, shedding crucial light on the underlying biological mechanisms and pathways. These discoveries have not only revolutionized risk assessment for patients but have also paved the way for personalized treatment strategies, allowing healthcare providers to tailor interventions according to individual genetic profiles. Furthermore, genetic testing has facilitated cascade screening, enabling the early identification and intervention of potential cardiovascular issues among at-risk biological family members. This review aims to comprehensively summarize the current state of knowledge regarding inherited risk and novel insights from human genome and epigenome research, as well as therapeutic opportunities in CVDs with special emphasis on inherited cardiomyopathies and inherited arrhythmic syndromes. The newest translational trials for CVDs and pharmaceutical approaches are discussed, including gene therapy options for heart failure and cardiomyopathies. Full article

(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)

► Show Figures

Figure 1

17 pages, 1594 KiB

Open AccessEditor’s ChoiceReview

Gene Therapy for Inherited Arrhythmia Syndromes

by Cameron J. Leong, Sohat Sharma, Jayant Seth, Archan Dave, Abdul Aziz Abdul Ghafoor and Zachary Laksman

Cardiogenetics 2024, 14(3), 132-148; https://doi.org/10.3390/cardiogenetics14030011 - 2 Aug 2024

The emergence of gene therapy offers opportunities for treating a myriad of genetic disorders and complex diseases that previously had limited or no treatment options. The key basic strategies for gene therapy involve either the addition, inhibition, or introduction of a new gene, [...] Read more.

The emergence of gene therapy offers opportunities for treating a myriad of genetic disorders and complex diseases that previously had limited or no treatment options. The key basic strategies for gene therapy involve either the addition, inhibition, or introduction of a new gene, with a crucial component being the use of a delivery vector to effectively target cells. Particularly promising is the application of gene therapy for the treatment of inherited arrhythmia syndromes, conditions associated with significant mortality and morbidity that have limited treatment options, and a paucity of disease modifying therapy. This review aims to summarize the utility of gene therapy for the treatment of inherited arrhythmia syndromes by exploring the current state of knowledge, limitations, and future directions. Full article

(This article belongs to the Special Issue Genetics of Inherited Arrhythmogenic Syndromes Associated with Sudden Death)

► Show Figures

Figure 1

10 pages, 1525 KiB

Open AccessEditor’s ChoiceArticle

Genetic Testing for Patients with Cardiomyopathies: The INDACO Study—Towards a Cardiogenetic Clinic

by Matteo Bianco, Noemi Giordano, Valentina Gazzola, Carloalberto Biolè, Giulia Nangeroni, Maurizio Lazzero, Giulia Margherita Brach del Prever, Fiorenza Mioli, Giulia Gobello, Amir Hassan Mousavi, Monica Guidante, Silvia Deaglio, Daniela Francesca Giachino and Alessandra Chinaglia

Cardiogenetics 2024, 14(3), 122-131; https://doi.org/10.3390/cardiogenetics14030010 - 22 Jul 2024

Cardiomyopathies have evolved from being considered rare and idiopathic to being increasingly linked to genetic factors. This shift was enabled by advancements in understanding genetic variants and the widespread use of next generation sequencing (NGS). Current guidelines emphasize the importance of evidence-based gene [...] Read more.

Cardiomyopathies have evolved from being considered rare and idiopathic to being increasingly linked to genetic factors. This shift was enabled by advancements in understanding genetic variants and the widespread use of next generation sequencing (NGS). Current guidelines emphasize the importance of evidence-based gene panels that can offer “clinically actionable results”, which provide diagnostic and prognostic insights. They also advise against indiscriminate family screening after finding variants of uncertain significance (VUS) and recommend collaboration among multidisciplinary teams for an accurate variant pathogenicity assessment. This article presents an innovative “cardiogenetic clinic” approach involving cardiologists and medical geneticists to provide genetic testing and family screening. This study attempts to improve the diagnostic process for suspected genetic cardiomyopathies; this includes direct patient recruitment during cardiology appointments, NGS analysis, and combined consultations with cardiologists and geneticists to assess the results and screen the families. The study cohort of 170 patients underwent genetic testing, which identified 78 gene variants. Positive results (C4 or C5 variants) occurred in 20 (19.8%) cases, with rates varying by cardiomyopathy phenotype, while 57 (73.1%) of the variants found were classified as C3-VUS, causing a significant management issue. This model shortened the time to results, increased patient adherence, and improved patients’ diagnoses. Family screening was pondered depending on the relevance of the detected variants, showing this method’s potential to impact patient management. Full article

(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)

► Show Figures

Figure 1

16 pages, 4679 KiB

Open AccessEditor’s ChoiceReview

Exploring the Role of Genetics in Sarcoidosis and Its Impact on the Development of Cardiac Sarcoidosis

by Sanjay Sivalokanathan

Cardiogenetics 2024, 14(2), 106-121; https://doi.org/10.3390/cardiogenetics14020009 - 3 Jun 2024

Sarcoidosis is a multifaceted and multisystemic inflammatory disorder, the etiology of which remains unknown. However, it has been suggested that an intricate interplay between genetic, environmental, and inflammatory factors may contribute to the development and progression of sarcoidosis. Although 30–50% of patients demonstrate [...] Read more.

Sarcoidosis is a multifaceted and multisystemic inflammatory disorder, the etiology of which remains unknown. However, it has been suggested that an intricate interplay between genetic, environmental, and inflammatory factors may contribute to the development and progression of sarcoidosis. Although 30–50% of patients demonstrate extra-pulmonary manifestations, cardiac involvement is rare, affecting only 2–5% of cases. Diagnosis is often challenging, relying on the careful application of clinical judgment, histopathological evidence, and imaging biomarkers. In this literature review, we aim to provide a comprehensive overview of the current understanding of the genetic basis of sarcoidosis, the contribution to the pathogenesis of the disorder, and discuss the potential link between certain genetic variants and the development of cardiac sarcoidosis. Full article

(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2024)

► Show Figures

Figure 1

13 pages, 1234 KiB

Open AccessEditor’s ChoiceArticle

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 - 20 May 2024

Cited by 1

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 [...] Read more.

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)

► Show Figures

Graphical abstract

9 pages, 6488 KiB

Open AccessCase Report

A Single Nucleotide Variant in Ankyrin-2 Influencing Ventricular Tachycardia in COVID-19 Associated Myocarditis

by Erin Haase, Chandana Kulkarni, Peyton Moore, Akash Ramanathan and Mohanakrishnan Sathyamoorthy

Cardiogenetics 2024, 14(2), 84-92; https://doi.org/10.3390/cardiogenetics14020007 - 6 May 2024

Introduction: This paper explores the potential influence of a single nucleotide variant in the ANK-2 gene on COVID-19 myocarditis-related ventricular tachycardia. Case Description: A 53-year-old female with a history of Crohn’s disease and asthma developed COVID-19. Shortly after infection, she experienced [...] Read more.

Introduction: This paper explores the potential influence of a single nucleotide variant in the ANK-2 gene on COVID-19 myocarditis-related ventricular tachycardia. Case Description: A 53-year-old female with a history of Crohn’s disease and asthma developed COVID-19. Shortly after infection, she experienced symptoms of chest pressure, palpitations, and shortness of breath, leading to the eventual diagnosis of myocarditis complicated by recurrent ventricular tachycardia. Treatment with mechanistically driven anti-arrhythmic therapy and beta-blockers suppressed this highly symptomatic ventricular tachycardia. Genetic testing to further risk stratify and influence long term care identified a single nucleotide variant in the ANK-2 gene, which is known to be associated with arrhythmic risk. Discussion: This case study highlights the use of rationally selected anti-arrhythmic therapy, mexiletine, in the management of ventricular tachycardia associated with COVID-19 myocarditis and the presence of a single nucleotide variant in ANK-2, raising the possibility of its contribution to VT susceptibility and severity. Our patient demonstrated significant improvement with administered therapeutics, including the resolution of myocarditis and ventricular tachycardia. The normalization of the QT interval during the resolution phase further supports the potential influence of the genetic variant in ANK-2 on potassium channel activity. Full article

► Show Figures

Figure 1

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

Cited by 1

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 [...] Read more.

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)

► Show Figures

Figure 1

15 pages, 6096 KiB

Open AccessEditor’s ChoiceReview

Consideration of the Medical Economics of Cardiac Genetics, Focusing on the Cost-Effectiveness of P2Y12 Inhibitor Selection Based on the CYP2C19 Loss-of-Function Allele: A Semi-Systematic Review

by Tomoyuki Takura

Cardiogenetics 2024, 14(2), 59-73; https://doi.org/10.3390/cardiogenetics14020005 - 3 Apr 2024

Medical economics is essential in cardiac genetics for the clinical application and development of research results. However, related economic evaluations are unclear, and limited systematic reviews are available on the cost-effectiveness of drug selection based on the CYP2C19 LOF allele. This review analyzed [...] Read more.

Medical economics is essential in cardiac genetics for the clinical application and development of research results. However, related economic evaluations are unclear, and limited systematic reviews are available on the cost-effectiveness of drug selection based on the CYP2C19 LOF allele. This review analyzed research in the MEDLINE database from January 2012 to June 2023 using more evidence than a well-designed cohort study, owing to the lack of relevant research in the database. For example, cost-effectiveness analyses are often reported as simulation assays, and were included in this analysis. No conditions related to patient background or antiplatelet drug therapy were selected. This review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement (2020). Twenty-one cardiac genetic studies were selected, of which nineteen involved antiplatelet therapy after PCI. A universal group consisting of clopidogrel and other drugs was used as the baseline and compared with the drug selection groups based on the CYP2C19 LOF allele. The incremental cost–effectiveness ratio was generally below 50,000 (US$/Qaly), and drug selection based on the CYP2C19 LOF allele was the most cost-effective, followed by universal clopidogrel. Although cardiac genetic and economic data are rudimentary, this review indicates that antiplatelet therapy (drug selection based on the CYP2C19 LOF allele) after PCI is generally cost-effective. Full article

(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)

► Show Figures

Figure 1

9 pages, 238 KiB

Open AccessPerspective

COVID-19 and the Heart: Lessons Learned and Future Research Directions

by Tetz Cheng-Che Lee, Alaa Mabrouk Salem Omar and Jonathan N. Bella

Cardiogenetics 2024, 14(1), 51-58; https://doi.org/10.3390/cardiogenetics14010004 - 19 Mar 2024

It has become evident that acute COVID-19 infection can lead to cardiovascular complications. While the exact mechanisms by which COVID-19 affects the cardiovascular system have yet to be fully elucidated, several mechanisms have been proposed, including direct myocardial effects on the virus and [...] Read more.

It has become evident that acute COVID-19 infection can lead to cardiovascular complications. While the exact mechanisms by which COVID-19 affects the cardiovascular system have yet to be fully elucidated, several mechanisms have been proposed, including direct myocardial effects on the virus and systemic inflammation as an indirect result. The cardiovascular complications of COVID-19 have been characterized and described using noninvasive cardiac imaging. The impact of COVID-19 on the cardiovascular system extends beyond the acute phase of the infection and well beyond recovery or the convalescent period. However, the underlying mechanisms of post-viral long-COVID symptoms have yet to be elucidated. It is evident that COVID-19 has become endemic and is here to stay. Future studies are needed (1) to understand the long-term effects of the cardiovascular complications of COVID-19, future cardiovascular events and the impact of mutating variants on cardiovascular complications through data collection and analysis, (2) to identify the most important diagnostic criteria for prognosis of COVID-19 and to understand the disease mechanism through biomarkers and advanced cardiac imaging, including echocardiography and (3) to develop novel strategies to manage and treat these cardiovascular complications using the knowledge gained. Full article

13 pages, 568 KiB

Open AccessFeature PaperEditor’s ChoiceArticle

Risk of Cardiac Arrhythmias in Patients with Late-Onset Pompe Disease—Results from a Long Follow-Up in a Group of 12 Patients and Review of Literature

by Alberto Palladino, Luigia Passamano, Marianna Scutifero, Salvatore Morra, Esther Picillo, Andrea Antonio Papa, Gerardo Nigro and Luisa Politano

Cardiogenetics 2024, 14(1), 38-50; https://doi.org/10.3390/cardiogenetics14010003 - 12 Feb 2024

Background. Pompe disease is a rare, severe, autosomal recessive genetic disorder caused by GAA gene mutations, which cause α-1,4-glucosidase enzyme deficiency. There are two forms of Pompe disease based on the age of onset, the infantile and the adult form (LOPD). Cardiac [...] Read more.

Background. Pompe disease is a rare, severe, autosomal recessive genetic disorder caused by GAA gene mutations, which cause α-1,4-glucosidase enzyme deficiency. There are two forms of Pompe disease based on the age of onset, the infantile and the adult form (LOPD). Cardiac involvement, previously recognized only in infantile cases, is now also reported in adults. Cardiomyopathy remains an exceptional finding while heart rhythm disorders appear to be more frequent. Methods. We retrospectively evaluated cardiac involvement in 12 patients with late-onset Pompe disease (LOPD) followed for an overall period of 143 years (mean 12.7 ± 7.7) using ECG, Holter ECG, and echocardiography. Results. The mean age of patients (M8:F4) at the first visit was 40.7 ± 16.1 (range 14–63) and 53.7 ± 16.9 (range 21–76) at last visit. Conduction delay was present in three patients; one patient developed ascending aorta ectasia but had a history of hypertension, and one patient showed right heart enlargement on echocardiography, probably due to pulmonary hypertension. No patient died during the FU, nor developed cardiomyopathy. Ectopic supraventricular beats and repeated episodes of ablation-resistant atrial fibrillation were observed in only one patient (8.3%) who required PMK implantation. Conclusions. Benefitting from the long follow-up, this study allows us to state that primary myocardial involvement is rare in patients with LOPD, while rhythm disorders are more frequent and require monitoring to avoid the risk of possible life-threatening complications. Full article

(This article belongs to the Section Rare Disease-Neuromuscular Diseases)

► Show Figures

Figure 1

12 pages, 664 KiB

Open AccessEditor’s ChoiceReview

Hypertrophic Cardiomyopathy and Chronic Kidney Disease: An Updated Review

by Sheefah Dhuny, Henry H. L. Wu, Manova David and Rajkumar Chinnadurai

Cardiogenetics 2024, 14(1), 26-37; https://doi.org/10.3390/cardiogenetics14010002 - 12 Jan 2024

The links between chronic kidney disease (CKD) and cardiac conditions such as coronary heart disease or valvular disease are well established in the literature. However, the relationship between hypertrophic cardiomyopathy (HCM) and CKD is not as frequently described or researched. HCM is the [...] Read more.

The links between chronic kidney disease (CKD) and cardiac conditions such as coronary heart disease or valvular disease are well established in the literature. However, the relationship between hypertrophic cardiomyopathy (HCM) and CKD is not as frequently described or researched. HCM is the most common form of inherited cardiac disease. It is mainly transmitted in an autosomal dominant fashion and caused by mutations in genes encoding sarcomere proteins. HCM is estimated to affect 0.2% of the general population and has an annual mortality rate of between approximately 0.5 and 1%. Our review article aims to summarize the genetics of HCM; discuss the potential clinical mimics that occur concurrently with HCM and CKD, potential interlinks that associate between these two conditions, the role of renal dysfunction as a poor prognostic indicator in HCM; and based on currently available evidence, recommend a management approach that may be suitable when clinicians are faced with this clinical scenario. Full article

(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)

► Show Figures

Figure 1

25 pages, 20599 KiB

Open AccessArticle

Gene-Specific Discriminative Echocardiogram Findings in Hypertrophic Cardiomyopathy Determined Using Artificial Intelligence: A Pilot Study

by Mila Glavaški, Aleksandra Ilić and Lazar Velicki

Cardiogenetics 2024, 14(1), 1-25; https://doi.org/10.3390/cardiogenetics14010001 - 25 Dec 2023

Hypertrophic cardiomyopathy (HCM) is among the most common forms of cardiomyopathies, with a prevalence of 1:200 to 1:500 people. HCM is caused by variants in genes encoding cardiac sarcomeric proteins, of which a majority reside in MYH7, MYBPC3, and TNNT2. [...] Read more.

Hypertrophic cardiomyopathy (HCM) is among the most common forms of cardiomyopathies, with a prevalence of 1:200 to 1:500 people. HCM is caused by variants in genes encoding cardiac sarcomeric proteins, of which a majority reside in MYH7, MYBPC3, and TNNT2. Up to 40% of the HCM cases do not have any known HCM variant. Genotype–phenotype associations in HCM remain incompletely understood. This study involved two visits of 46 adult patients with a confirmed diagnosis of HCM. In total, 174 genes were analyzed on the Next-Generation Sequencing platform, and transthoracic echocardiography was performed. Gene-specific discriminative echocardiogram findings were identified using the computer vision library Fast AI. This was accomplished with the generation of deep learning models for the classification of ultrasonic images based on the underlying genotype and a later analysis of the most decisive image regions. Gene-specific echocardiogram findings were identified: for variants in the MYH7 gene (vs. variant not detected), the most discriminative structures were the septum, left ventricular outflow tract (LVOT) segment, anterior wall, apex, right ventricle, and mitral apparatus; for variants in MYBPC3 gene (vs. variant not detected) these were the septum, left ventricle, and left ventricle/chamber; while for variants in the TNNT2 gene (vs. variant not detected), the most discriminative structures were the septum and right ventricle. Full article

(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)

► Show Figures

Graphical abstract

2 pages, 186 KiB

Open AccessEditorial

Inherited Arrhythmogenic Syndromes

by Georgia Sarquella-Brugada and Oscar Campuzano

Cardiogenetics 2023, 13(4), 173-174; https://doi.org/10.3390/cardiogenetics13040016 - 4 Dec 2023

Inherited arrhythmogenic syndromes (IASs) are a heterogeneous group of rare cardiac entities of genetic origin [...] Full article

(This article belongs to the Special Issue Genetics of Inherited Arrhythmogenic Syndromes Associated with Sudden Death)

More Articles...

Submit to Cardiogenetics Review for Cardiogenetics

Journal Menu

Journal Browser

► Journal Browser

Highly Accessed Articles

View More...

Latest Books

More Books and Reprints...

E-Mail Alert

News

6 December 2024
MDPI INSIGHTS: The CEO's Letter #18 - MDPI UK, Basel Job Fair, CETEF'24

4 December 2024
685 MDPI Editors Named Highly Cited Researchers in 2024

22 November 2024
Meet Us at the EuroEcho-Imaging 2024, 11–13 December 2024, Berlin, Germany

More News & Announcements...

Topics

Propose a Topic

Topic in Cardiogenetics, Hearts, JCDD, JCM, Medicina

Biomarkers in Cardiovascular Disease—Chances and Risks, 2nd Volume Topic Editors: Alexander E. Berezin, Michael Lichtenauer
Deadline: 31 December 2025

Conferences

Announce Your Conference

More Conferences...

Special Issues

Propose a Special Issue

Special Issue in Cardiogenetics

Metabolic and Genetic Bases of Cardiovascular Diseases Guest Editor: Elisabete Martins
Deadline: 31 December 2024

Special Issue in Cardiogenetics

Cardiogenetics: Feature Papers 2024 Guest Editors: Giuseppe Limongelli, Lia Crotti
Deadline: 31 December 2024

Special Issue in Cardiogenetics

Gene Therapy in Cardiovascular Genetics Guest Editors: Matteo Vatta, Valeria Novelli
Deadline: 30 April 2025

Back to TopTop