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Article

MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients

1
Department of Pediatric Cardiology, Helsinki University Hospital and The University of Helsinki, 00029 Helsinki, Finland
2
Heart and Lung Center, Helsinki University Hospital and The University of Helsinki, 00026 Helsinki, Finland
3
Stem Cells and Metabolism Research Program, Biomedicum, University of Helsinki, 00290 Helsinki, Finland
4
Department of Radiology, HUS Medical Imaging Center, Helsinki University Hospital and The University of Helsinki, 00029 Helsinki, Finland
5
Blueprint Genetics, 02150 Espoo, Finland
*
Author to whom correspondence should be addressed.
Academic Editor: Matteo Vatta
Cardiogenetics 2022, 12(1), 122-132; https://doi.org/10.3390/cardiogenetics12010013
Received: 3 December 2021 / Revised: 25 February 2022 / Accepted: 8 March 2022 / Published: 16 March 2022
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
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. View Full-Text
Keywords: MYH7; cardiomyopathy; screening; age of onset MYH7; cardiomyopathy; screening; age of onset
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MDPI and ACS Style

Vepsäläinen, T.; Heliö, T.; Vasilescu, C.; Martelius, L.; Weckström, S.; Koskenvuo, J.; Hiippala, A.; Ojala, T. MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients. Cardiogenetics 2022, 12, 122-132. https://doi.org/10.3390/cardiogenetics12010013

AMA Style

Vepsäläinen T, Heliö T, Vasilescu C, Martelius L, Weckström S, Koskenvuo J, Hiippala A, Ojala T. MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients. Cardiogenetics. 2022; 12(1):122-132. https://doi.org/10.3390/cardiogenetics12010013

Chicago/Turabian Style

Vepsäläinen, Teemu, Tiina Heliö, Catalina Vasilescu, Laura Martelius, Sini Weckström, Juha Koskenvuo, Anita Hiippala, and Tiina Ojala. 2022. "MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients" Cardiogenetics 12, no. 1: 122-132. https://doi.org/10.3390/cardiogenetics12010013

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