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Cardiogenetics
Special Issues
Genetic Diagnostics in Inherited Cardiomyopathies
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Genetic Diagnostics in Inherited Cardiomyopathies

A special issue of Cardiogenetics (ISSN 2035-8148). This special issue belongs to the section "Cardiovascular Genetics in Clinical Practice".

Deadline for manuscript submissions: closed (20 September 2021) | Viewed by 22718

Special Issue Editors

Dr. Tiina Heliö

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Guest Editor
Heart and Lung Center, Helsinki University Hospital, Helsinki, Finland
Interests: cardiomyopathies; cardiovascular genetics; genetic testing
Prof. Dr. Juha W. Koskenvuo

E-Mail Website
Guest Editor
Blueprint Genetics, Helsinki, Finland
Interests: cardiovascular genetics; sequencing; diagnostics
Prof. Dr. Katriina Aalto-Setälä

E-Mail Website
Guest Editor
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
Interests: cardiomyopathies; stem cell differentiation; tissue engineering; stem cell culture; regenerative medicine; coronary artery disease

Special Issue Information

Dear Colleagues,

Inherited cardiomyopathies in adults and children present a complex challenge to clinicians. The most feared complication, sudden cardiac death, may occur without previous significant signs or symptoms of cardiac disease. The clinical diagnosis of cardiomyopathies is mainly based on cardiac imaging, either using echocardiography or cardiac magnetic resonance imaging. These imaging examinations are typically utilized for patients with a clinical suspicion of a cardiac disease. To recognize family members who might develop a similar cardiomyopathy is sometimes difficult with clinical examination only. Once clinical diagnosis of the index patient has been established, genetic testing may reveal the disease-causing genetic variant. With this it is possible to screen family members for this particular variant. Those individuals who carry the variant can be referred to follow-up, potential treatment, and lifestyle modifications, whereas those not carrying the variant can be relieved from the need of follow-up and various restrictions. Clinical genetic testing has rapidly become a powerful diagnostic tool among others in cardiology. The rapid development of sequencing technologies and variant interpretation has made it possible to use genetic testing for clinical purposes. This Special Issue is focused on the use of genetic testing and genetic background analysis of the most prevalent cardiomyopathy subtypes.

Prof. Dr. Tiina Heliö
Prof. Dr. Juha W. Koskenvuo
Prof. Dr. Katriina Aalto-Setälä
Guest Editors

Manuscript Submission Information

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Keywords

  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic cardiomyopathy
  • Mitochondrial cardiomyopathy
  • Pediatric cardiomyopathy
  • Genetic testing
  • Inherited cardiomyopathies

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Published Papers (5 papers)

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11 pages, 1039 KiB  
Article
MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients
by Teemu Vepsäläinen, Tiina Heliö, Catalina Vasilescu, Laura Martelius, Sini Weckström, Juha Koskenvuo, Anita Hiippala and Tiina Ojala
Cardiogenetics 2022, 12(1), 122-132; https://doi.org/10.3390/cardiogenetics12010013 - 16 Mar 2022
Cited by 4 | Viewed by 5812
Abstract
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 heavy chain), as this gene is commonly mutated in [...] Read more.
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 heavy chain), as this gene is commonly mutated in cardiomyopathy patients. Due to the high combined prevalence of MYH7 variants and severe health outcomes, it is one of the most frequently tested genes in clinical settings. We analyzed the clinical presentation and natural history of 48 patients with MYH7-related cardiomyopathy belonging to a cohort from a tertiary center at Helsinki University Hospital, Finland. We made special reference to three age subgroups (0–1, 1–12, and >12 years). Our results characterize a clinically significant MYH7 cohort, emphasizing the high variability of the CMP phenotype depending on age. We observed a subgroup of infants (0–1 years) with MYH7 associated severe DCM phenotype. We further demonstrate that patients under the age of 12 years have a similar symptom burden compared to older patients. Full article
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
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13 pages, 2595 KiB  
Article
Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)
by Nosheen Reza, Alejandro de Feria, Jessica L. Chowns, Lily Hoffman-Andrews, Laura Vann, Jessica Kim, Amy Marzolf and Anjali Tiku Owens
Cardiogenetics 2022, 12(1), 24-36; https://doi.org/10.3390/cardiogenetics12010003 - 6 Jan 2022
Cited by 8 | Viewed by 5164
Abstract
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 associated with left-dominant arrhythmogenic cardiomyopathy. Data regarding [...] Read more.
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 associated with left-dominant arrhythmogenic cardiomyopathy. Data regarding the cardiac phenotypes associated with genetic variation in DSP have been largely accumulated from phenotype-first studies of ARVC. Methods: We aimed to evaluate the clinical manifestations of cardiac disease associated with variants in DSP through a genotype-first approach employed in the University of Pennsylvania Center for Inherited Cardiovascular Disease registry. We performed a retrospective study of 19 individuals with “pathogenic” or “likely pathogenic” variants in DSP identified by clinical genetic testing. Demographics and clinical characteristics were collected. Results: Among individuals with disease-causing variants in DSP, nearly 40% had left ventricular enlargement at initial assessment. Malignant arrhythmias were prevalent in this cohort (42%) with a high proportion of individuals undergoing primary and secondary prevention implantable cardioverter defibrillator implantation (68%) and ablation of ventricular arrhythmias (16%). Probands also experienced end-stage heart failure requiring heart transplantation (11%). Conclusions: Our data suggest DSP cardiomyopathy may manifest with a high burden of heart failure and arrhythmic events, highlighting its importance in the pathogenesis of dilated and arrhythmogenic cardiomyopathies. Targeted strategies for diagnosis and risk stratification for DSP cardiomyopathy should be investigated. Full article
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
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11 pages, 12430 KiB  
Case Report
Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease
by Joanne Simpson, Joan Anusas, Denise Oxnard, Sylvia Wright, Ruth McGowan and Caroline Coats
Cardiogenetics 2021, 11(4), 219-229; https://doi.org/10.3390/cardiogenetics11040022 - 10 Nov 2021
Viewed by 2966
Abstract
Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) has led to the newer term of arrhythmogenic cardiomyopathy (ACM). We report on a family with [...] Read more.
Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) has led to the newer term of arrhythmogenic cardiomyopathy (ACM). We report on a family with autosomal dominant desmoplakin (DSP) related ACM to illustrate the broad clinical spectrum of disease. The importance of evaluation of relatives with cardiac magnetic resonance imaging and consideration of genetic testing in the absence of Task Force diagnostic criteria is discussed. The practical and ethical issues of access to the Guthrie collection for deoxyribonucleic acid (DNA) testing are considered. Full article
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
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7 pages, 6107 KiB  
Case Report
Reassessment of Gene-Elusive Familial Dilated Cardiomyopathy Leading to the Discovery of a Homozygous AARS2 Variant—The Importance of Regular Reassessment of Genetic Findings
by Priya Bhardwaj, Christoffer Rasmus Vissing, Niels Kjær Stampe, Kasper Rossing, Alex Hørby Christensen, Thomas Hartvig Lindkær Jensen and Bo Gregers Winkel
Cardiogenetics 2021, 11(3), 122-128; https://doi.org/10.3390/cardiogenetics11030013 - 23 Jul 2021
Viewed by 3761
Abstract
Background: AARS2 encodes the mitochondrial protein alanyl-tRNA synthetase 2 (MT-AlaRS), an important enzyme in oxidative phosphorylation. Variants in AARS2 have previously been associated with infantile cardiomyopathy. Case summary: A 4-year-old girl died of infantile-onset dilated cardiomyopathy (DCM) in 1996. Fifteen years later, her [...] Read more.
Background: AARS2 encodes the mitochondrial protein alanyl-tRNA synthetase 2 (MT-AlaRS), an important enzyme in oxidative phosphorylation. Variants in AARS2 have previously been associated with infantile cardiomyopathy. Case summary: A 4-year-old girl died of infantile-onset dilated cardiomyopathy (DCM) in 1996. Fifteen years later, her 21-year-old brother was diagnosed with DCM and ultimately underwent heart transplantation. Initial sequencing of 15 genes discovered no pathogenic variants in the brother at the time of his diagnosis. However, 9 years later re-screening in an updated screening panel of 129 genes identified a homozygous AARS2 (c.1774C > T) variant. Sanger sequencing of the deceased girl confirmed her to be homozygous for the AARS2 variant, while both parents and a third sibling were all found to be unaffected heterozygous carriers of the AARS2 variant. Discussion: This report underlines the importance of repeated and extended genetic screening of elusive families with suspected hereditary cardiomyopathies, as our knowledge of disease-causing mutations continuously grows. Although identification of the genetic etiology in the reported family would not have changed the clinical management, the genetic finding allows genetic counselling and holds substantial value in identifying at-risk relatives. Full article
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
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5 pages, 1138 KiB  
Case Report
Genetic Diagnosis in Sudden Cardiac Death: The Crucial Role of Multidisciplinary Care
by 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
Cardiogenetics 2021, 11(2), 68-72; https://doi.org/10.3390/cardiogenetics11020008 - 13 May 2021
Cited by 1 | Viewed by 3627
Abstract
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 aneurysms and dissections. The identification of a [...] Read more.
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 aneurysms and dissections. The identification of a genetic cause allows for genetic testing and cardiological surveillance in at-risk relatives. Three sudden death cases from our hospital illustrate the value of autopsy, genetic, and cardiological screening in relatives following a sudden death. On autopsy, histology consistent with hereditary cardiomyopathy is a reason for the referral of relatives. In addition, in the absence of an identifiable cause of death by autopsy in young sudden death patients, arrhythmia syndrome should be considered as a potential genetic cause. Full article
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
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