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Cardiogenetics, Volume 12, Issue 3 (September 2022) – 6 articles

Cover Story (view full-size image): Computer-corrected QTc revealed LQTS to be a frequent condition among medical patients. The phenomenon was previously thought to be a rare inherited condition explained by genetic defects in the slow and rapid potassium channels KCNQ1 and KCNH2 and the sodium channel SCN5A. The penetrance of the gene defects varies, and many gene carriers have a concealed syndrome with normal QTc but a reduced repolarization reserve. The repolarization reserve is in general susceptible to electrolyte disturbances, medication, and many pathophysiological effects, but required in most cases of QTc prolongation. QTc prolongation is proven to be a risk factor for ventricular tachycardia independent of etiology. Any QTc prolongation above 480 ms increases mortality and should receive appropriate attention. View this paper

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9 pages, 1766 KiB

Open AccessReview

Moderately Prolonged QTc in Computer-Assessed ECG, Random Variation or Significant Risk Factor? A Literature Review

by Jan Hysing, Charlotte Gibbs, Øystein Lunde Holla, Jacob Thalamus and Kristina H. Haugaa

Cardiogenetics 2022, 12(3), 261-269; https://doi.org/10.3390/cardiogenetics12030025 - 08 Sep 2022

Cited by 1 | Viewed by 3000

Abstract

Most ECGs in European hospitals are recorded with equipment giving computer measured intervals and interpretation of the recording. In addition to measurements of interval and QRS axis, this interpretation frequently provides the Bazett’s-corrected QTc time. The introduction of computer-corrected QTc revealed QTc prolongation to be a frequent condition among medical patients. Nevertheless, the finding is frequently overlooked by the treating physician. The authors combine experience from a local hospital with a review of the current literature in this field in order to elucidate the importance of this risk factor both as congenital long QT syndrome and as acquired QT prolongation. Full article

(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2022)

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8 pages, 1443 KiB

Open AccessArticle

Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease

by Felix-Julian Campos-Garcia, Addy-Manuela Castillo-Espinola, Carolina-Elizabeth Medina-Escobedo, Juan C. Zenteno, Julio-Cesar Lara-Riegos, Hector Rubio-Zapata, David Cruz-Robles and Ana-Isabel Velazquez-Ibarra

Cardiogenetics 2022, 12(3), 253-260; https://doi.org/10.3390/cardiogenetics12030024 - 22 Aug 2022

Viewed by 2876

Abstract

22q11.2 deletion syndrome is a phenotypic spectrum that encompasses DiGeorge syndrome (OMIM: 188400) and velocardiofacial syndrome (OMIM: 192430). It is caused by a 1.5–3.0 Mb hemizygous deletion of locus 22q11.2, which leads to characteristic facies, conotruncal cardiovascular malformations, velopharyngeal insufficiency, T-lymphocyte dysfunction due to thymic aplasia, and parathyroid hypoplasia, and, less frequently, neurological manifestations such as delayed psychomotor development or schizophrenia. This study aimed to describe a screening method for the diagnosis of 22q11.2 deletion syndrome in patients with Conotruncal Congenital Heart Disease (CCHD), using qPCR to detect the copy number of the TBX1 gene in a single DNA sample. A total of 23 patients were included; 21 with a biallelic prediction of the TBX1 copy number gene and 2 with a monoallelic prediction who were suspected to be positive and subjected to MLPA confirmation. One patient (4.34%) with truncus arteriosus CCHD was confirmed to have 22q11.2 deletion syndrome. We propose this approach as a possible newborn screening method for 22q11.2 deletion syndrome in CCHD patients. Full article

(This article belongs to the Section Molecular Genetics)

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7 pages, 7787 KiB

Open AccessCase Report

Recurrent Episodes of Acute Myocardial Infarction Secondary to Paradoxical Coronary Artery Embolism

by Mita Singh, Ana Teresa Gomes, Paul Hill and Ansuman Saha

Cardiogenetics 2022, 12(3), 246-252; https://doi.org/10.3390/cardiogenetics12030023 - 03 Aug 2022

Cited by 1 | Viewed by 2512

Abstract

Coronary artery embolism is a rare cause of acute myocardial infarction, attributed to approximately 10% of all paradoxical embolisms. It is a condition that should be considered in patients who present with chest pain and have a low overall risk of coronary heart disease. A major risk of coronary artery embolism is the existence of a patent foramen ovale (PFO), which can be shown on bubble transthoracic echocardiography. Here we describe a case report of a 68-year-old Caucasian lady who presented with recurrent episodes of myocardial infarction secondary to a paradoxical coronary artery embolism which was likely due to a PFO. We emphasize the need for more research on the role of PFO percutaneous device closure compared to just medical therapy in those with recurrent episodes of acute myocardial infarction secondary to paradoxical coronary artery embolism. This, in turn, should provide clearer guidance in managing such patients with high risk of mortality. Full article

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11 pages, 913 KiB

Open AccessArticle

Association of GSTT1, GSTM1 and GSTP1 (Ile105Val) mRNA Expression with Cardiometabolic Risk Parameters in Women with Breast Cancer and Comorbidities

by Yizel Becerril Alarcón, Fernando Bastida González, Isidro Roberto Camacho Beiza, Eduardo Dávila González, José Alfonso Cruz Ramos, Alejandra Donají Benítez Arciniega, Roxana Valdés Ramos and Alexandra Estela Soto Piña

Cardiogenetics 2022, 12(3), 235-245; https://doi.org/10.3390/cardiogenetics12030022 - 20 Jul 2022

Viewed by 2597

Abstract

Breast cancer (BC) and cardiometabolic diseases share a multifactorial and modifiable etiology, modulated by complex molecular pathways. Glutathione S-transferase (GST) plays a critical role, providing protection against xenobiotics and regulating levels of enzymes and proteins in the cell. GST variants have a significant impact on susceptibility to diseases whose pathogenesis involves oxidative stress, as is the case in many inflammatory diseases such as BC and cardiometabolic pathologies. However, the expression of these polymorphic variants has not been studied in BC. This study aimed to evaluate the presence of GST mRNA isoforms and their association with clinical and cardiometabolic parameters in women with BC. This was a case-control study, and a total of 57 participants were recruited. Concentrations of glucose and lipids in blood were measured in all the participants. GST variants (GSTT1, GSTM1 and GSTP1 Ile105Val polymorphism) were evaluated in all the participants by real-time PCR analysis. There was a significant association (p < 0.05) between the frequency of GSTP1 and LDL-c in the BC group. However, the control group showed significant associations between blood pressure with GSTT1 and GSTP1 variants with total cholesterol (TC), LDL-c, VLDL-c and triacylglycerols (TG). Therefore, GSTT1 and GSTP1 variants could be emerging biomarkers to discriminate between BC cases related or not to cardiometabolic disease factors. Full article

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

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17 pages, 1033 KiB

Open AccessReview

Studying Epigenetics of Cardiovascular Diseases on Chip Guide

by Bandar Ali Alghamdi, Intisar Mahmoud Aljohani, Bandar Ghazi Alotaibi, Muhammad Ahmed, Kholod Abduallah Almazmomi, Salman Aloufi and Jowhra Alshamrani

Cardiogenetics 2022, 12(3), 218-234; https://doi.org/10.3390/cardiogenetics12030021 - 07 Jul 2022

Viewed by 3626

Abstract

Epigenetics is defined as the study of inheritable changes in the gene expressions and phenotypes that occurs without altering the normal DNA sequence. These changes are mainly due to an alteration in chromatin or its packaging, which changes the DNA accessibility. DNA methylation, histone modification, and noncoding or microRNAs can best explain the mechanism of epigenetics. There are various DNA methylated enzymes, histone-modifying enzymes, and microRNAs involved in the cause of various CVDs (cardiovascular diseases) such as cardiac hypertrophy, heart failure, and hypertension. Moreover, various CVD risk factors such as diabetes mellitus, hypoxia, aging, dyslipidemia, and their epigenetics are also discussed together with CVDs such as CHD (coronary heart disease) and PAH (pulmonary arterial hypertension). Furthermore, different techniques involved in epigenetic chromatin mapping are explained. Among these techniques, the ChIP-on-chip guide is explained with regard to its role in cardiac hypertrophy, a final form of heart failure. This review focuses on different epigenetic factors that are involved in causing cardiovascular diseases. Full article

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6 pages, 3610 KiB

Open AccessCase Report

Identification of Single-Nucleotide Polymorphisms in ZNF469 in a Patient with Aortoiliac Aneurysmal Disease

by Adam Wolf, Faria Khimani and Mohanakrishnan Sathyamoorthy

Cardiogenetics 2022, 12(3), 212-217; https://doi.org/10.3390/cardiogenetics12030020 - 28 Jun 2022

Cited by 1 | Viewed by 2778

Abstract

Thoracic aortic aneurysms and dissections often have inter-related pathologies that are increasingly recognized to have a genetic basis. A patient with a vascular history consisting of a spontaneous aorto-iliac dissection and thoracic aortic aneurysm belonged to a family with a significant self-reported history of aneurysmal disease. Suspecting a genetic component, genetic investigation was undertaken. Three variants of unknown significance were found in the ZNF469 gene, which is responsible for the production of a collagen-related zinc finger protein involved in multiple aspects of the development and regulation of major extracellular matrix components. This is the first report to associate this gene with vasculopathy, and further investigation by our group is underway to understand the role it plays in the development of aneurysmal diseases. Full article

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

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