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Cardiogenetics, Volume 14, Issue 4 (December 2024) – 5 articles

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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

Viewed by 307

Abstract

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)

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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

Viewed by 355

Abstract

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)

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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

Viewed by 404

Abstract

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

Viewed by 611

Abstract

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)

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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

Viewed by 729

Abstract

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)

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