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Cardiogenetics, Volume 12, Issue 1

2022 March - 13 articles

Cover Story: Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate extensive evaluation of the arterial tree in HTAD with known distal vasculature involvement and justify closer follow-up and earlier surgical intervention in HTAD with high risk of dissection of minimal or normal aortic size. Evolving phenotype-genotype correlations lead us toward more precise and individualized management and treatment of patients with HTAD. In this review, we present the latest evidence regarding the role of genetics in patients with HTAD. View this paper
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Articles (13)

  • Article
  • Open Access
6 Citations
7,923 Views
11 Pages

MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients

  • Teemu Vepsäläinen,
  • Tiina Heliö,
  • Catalina Vasilescu,
  • Laura Martelius,
  • Sini Weckström,
  • Juha Koskenvuo,
  • Anita Hiippala and
  • Tiina Ojala

Cardiomyopathies (CMPs) are a heterogeneous group of diseases, frequently genetic, affecting the heart muscle. The symptoms range from asymptomatic to dyspnea, arrhythmias, syncope, and sudden cardiac death. This study is focused on MYH7 (beta-myosin...

  • Review
  • Open Access
7,904 Views
10 Pages

Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review

  • Emanuele Monda,
  • Ettore Blasi,
  • Antonio De Pasquale,
  • Alessandro Di Vilio,
  • Federica Amodio,
  • Martina Caiazza,
  • Gaetano Diana,
  • Michele Lioncino,
  • Alessia Perna and
  • Giuseppe Limongelli
  • + 4 authors

The deletion of the arginine 14 codon (R14del) in the phospholamban (PLN) gene is a rare cause of arrhythmogenic cardiomyopathy (ACM) and is associated with prevalent ventricular arrhythmias, heart failure, and sudden cardiac death. The pathophysiolo...

  • Case Report
  • Open Access
1 Citations
3,944 Views
7 Pages

Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference

  • Marta Rubino,
  • Emanuele Monda,
  • Martina Caiazza,
  • Giuseppe Palmiero,
  • Michele Lioncino,
  • Annapaola Cirillo,
  • Adelaide Fusco,
  • Federica Verrillo,
  • Alessia Perna and
  • Giuseppe Limongelli
  • + 7 authors

25 February 2022

Fabry disease (FD) is a multiorgan disease, which can potentially affect any organ or tissue, with the heart, kidneys, and central nervous system representing the major disease targets. FD can be suspected based on the presence of specific red flags,...

  • Article
  • Open Access
1 Citations
4,142 Views
12 Pages

Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1–3

  • Tobias Burkard,
  • Dominik Sebastian Westphal,
  • Franziska Markel,
  • Roman Antonin Gebauer,
  • Gabriele Hessling and
  • Cordula Maria Wolf

Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with sudden cardiac death (SCD). This study aimed to identify the clinical and molecular genetic risk factors that contribute to major arrhythmic events (MAEs) in patients with ge...

  • Case Report
  • Open Access
1 Citations
3,737 Views
9 Pages

Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation

  • Angela Maggio,
  • Sandra Mastroianno,
  • Giuseppe Di Stolfo,
  • Stefano Castellana,
  • Pietro Palumbo,
  • Maria Pia Leone,
  • Anita Spirito,
  • Domenico Rosario Potenza,
  • Saverio Ladogana and
  • Mauro Pellegrino Salvatori
  • + 3 authors

In thelast few decades, the roles of cardio-oncology and cardiovascular geneticsgained more and more attention in research and daily clinical practice, shaping a new clinical approach and management of patients affected by cancer and cardiovascular d...

  • Review
  • Open Access
9 Citations
8,695 Views
17 Pages

Genetics of Heritable Thoracic Aortic Disease

  • Efstathios Papatheodorou,
  • Dimitrios Degiannis and
  • Aris Anastasakis

Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate...

  • Review
  • Open Access
6 Citations
7,066 Views
14 Pages

The Roles of Platelet-Activating Factor and Magnesium in Pathophysiology of Hypertension, Atherogenesis, Cardiovascular Disease, Stroke and Aging

  • Nilank Shah,
  • Roshni Sethi,
  • Sachin Shah,
  • Komail Jafri,
  • Jonah Duran,
  • Yong Chang,
  • Chirag Soni and
  • Hanna Wollocko

Hypertension and atherosclerosis are debilitating diseases that affect millions each year. Long-term consequences include but are not limited to stroke, myocardial infarction, and kidney failure. Platelet-activating factor (PAF) is a proinflammatory...

  • Review
  • Open Access
4,762 Views
12 Pages

An Overview of Therapy Guidelines for Cardiac Arrest and the Potential Benefits of Hemoglobin-Based Oxygen Carriers

  • Brian M. Wollocko,
  • Bardia Papian-Gorji,
  • Winston Yen,
  • Urooj Zahid,
  • Nilank Shah,
  • Kenneth Steier and
  • Hanna Wollocko

Currently, there is an unmet therapeutic need for the medical management of cardiac arrest, as is evident from the high mortality rate associated with this condition. These dire outcomes can be attributed to the severe nature and poor prognosis of th...

  • Review
  • Open Access
3,924 Views
12 Pages

Nanoparticle-Based Modification of the DNA Methylome: A Therapeutic Tool for Atherosclerosis?

  • Ana Cristina Márquez-Sánchez,
  • Lino Sánchez-Segura,
  • Gertrud Lund and
  • Silvio Zaina

Cardiovascular epigenomics is a relatively young field of research, yet it is providing novel insights into gene regulation in the atherosclerotic arterial wall. That information is already pointing to new avenues for atherosclerosis (AS) prevention...

  • Article
  • Open Access
13 Citations
7,879 Views
13 Pages

Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)

  • Nosheen Reza,
  • Alejandro de Feria,
  • Jessica L. Chowns,
  • Lily Hoffman-Andrews,
  • Laura Vann,
  • Jessica Kim,
  • Amy Marzolf and
  • Anjali Tiku Owens

Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years. More recently, genetic variation in DSP has also been associat...

  • Article
  • Open Access
3 Citations
4,471 Views
11 Pages

Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy

  • Torsten B. Rasmussen,
  • Bertil T. Ladefoged,
  • Anne M. Dybro,
  • Tor S. Clemmensen,
  • Rikke H. Sørensen,
  • Astrid J. Terkelsen,
  • Henning Mølgaard,
  • Henrik Vase and
  • Steen H. Poulsen

Genotyping divides transthyretin cardiac amyloidosis (ATTR-CA) in hereditary (ATTRv) and wild type (ATTRwt) forms. This study investigated the prevalence and clinical presentation of ATTRv in a contemporary cohort of consecutive ATTR-CA patients diag...

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Cardiogenetics - ISSN 2035-8148