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Cardiogenetics, Volume 11, Issue 2

June 2021 - 5 articles

Cover Story: Genetic variants in MYBPC3 are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in MYBPC3 affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investigate the pathogenicity of more deeply intronic variants. Here, we present three patients with HCM and intronic splice-affecting MYBPC3 variants of unknown significance (VUS) identified from diagnostic DNA sequencing. RNA investigations using in silico bioinformatics prediction tools, in vitro minigene splicing assays and in vivo analysis of patient blood-derived RNA showed that all three variants result in mis-splicing of MYBPC3 and allelic loss-of-function. We can now classify these MYBPC3 intronic variants as pathogenic and offer genetic testing to other family members. Created with BioRender.com. View this paper

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Articles (5)

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Study Protocol

8 Citations

8,765 Views

14 Pages

The Multi-Ethnic New Zealand Study of Acute Coronary Syndromes (MENZACS): Design and Methodology

Malcolm. E. Legget,
Vicky. A. Cameron,
Katrina. K. Poppe,
Sara Aish,
Nikki Earle,
Yeunhyang Choi,
Kathryn. E. Bradbury,
Clare Wall,
Ralph Stewart and
Andrew Kerr
+ 8 authors

Cardiogenetics2021, 11(2), 84-97;https://doi.org/10.3390/cardiogenetics11020010

8 June 2021

Background. Each year, approximately 5000 New Zealanders are admitted to hospital with first-time acute coronary syndrome (ACS). The Multi-Ethnic New Zealand Study of Acute Coronary Syndromes (MENZACS) is a prospective longitudinal cohort study embed...

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Communication

3 Citations

6,607 Views

11 Pages

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy

Katherine A. Wood,
Jamie M. Ellingford,
James Eden,
Huw B. Thomas,
Raymond T. O’Keefe,
Claire Hopton and
William G. Newman

Cardiogenetics2021, 11(2), 73-83;https://doi.org/10.3390/cardiogenetics11020009

2 June 2021

Genetic variants in MYBPC3 are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in MYBPC3 affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investiga...

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Case Report

3 Citations

4,205 Views

5 Pages

Genetic Diagnosis in Sudden Cardiac Death: The Crucial Role of Multidisciplinary Care

S. N. van der Crabben,
F. L. Komdeur,
E. J. Nossent,
R. H. Lekanne Deprez,
E. A. Broekhuizen,
C. van der Werf,
A. M. C. Vermeer,
H. W. M. Niessen and
A. C. Houweling

Cardiogenetics2021, 11(2), 68-72;https://doi.org/10.3390/cardiogenetics11020008

13 May 2021

Sudden death, especially at a young age, may be caused by an underlying genetic cause. Hereditary conditions with an increased risk of sudden death at a young age include cardiomyopathies, arrhythmia syndromes, and hereditary thoracic aortic aneurysm...

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Feature Paper
Review

6 Citations

5,630 Views

18 Pages

Constraints in Clinical Cardiology and Personalized Medicine: Interrelated Concepts in Clinical Cardiology

Katerina G. Lourida and
George E. Louridas

Cardiogenetics2021, 11(2), 50-67;https://doi.org/10.3390/cardiogenetics11020007

10 May 2021

Systems biology is established as an integrative computational analysis methodology with practical and theoretical applications in clinical cardiology. The integration of genetic and molecular components of a disease produces interacting networks, mo...

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Review

3 Citations

12,564 Views

11 Pages

Cardiac Involvement in Autosomal Dominant Polycystic Kidney Disease

Letizia Spinelli,
Giuseppe Giugliano and
Giovanni Esposito

Cardiogenetics2021, 11(2), 39-49;https://doi.org/10.3390/cardiogenetics11020006

20 April 2021

Cardiovascular disorders are the main complication in autosomal dominant polycystic kidney disease (ADPKD). contributing to both morbidity and mortality. This review considers clinical studies unveiling cardiovascular features in patients with ADPKD....

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