Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous Variants
Hypertrophic cardiomyopathy associated with damaging variants in the <i>ALPK3</i> gene is a fairly recent discovery, and only a small number of patients have been described thus far. Here we present two additional patients with hypertrophic cardiomyopathy caused by biallelic variants in...
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MDPI AG
2020-10-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/11/10/1201 |
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| author | John Jorholt Yulia Formicheva Tatyana Vershinina Artem Kiselev Alexey Muravyev Elena Demchenko Petr Fedotov Anna Zlotina Anton Rygkov Elena Vasichkina Thomas Sejersen Anna Kostareva |
| author_facet | John Jorholt Yulia Formicheva Tatyana Vershinina Artem Kiselev Alexey Muravyev Elena Demchenko Petr Fedotov Anna Zlotina Anton Rygkov Elena Vasichkina Thomas Sejersen Anna Kostareva |
| author_sort | John Jorholt |
| collection | DOAJ |
| description | Hypertrophic cardiomyopathy associated with damaging variants in the <i>ALPK3</i> gene is a fairly recent discovery, and only a small number of patients have been described thus far. Here we present two additional patients with hypertrophic cardiomyopathy caused by biallelic variants in <i>ALPK3</i>. Genetic investigation was performed using a targeted gene panel consisting of known cardiomyopathy-associated genes and whole exome sequencing. The patients showed a large difference in the age of onset, and both presented with extracardiac features that are often seen in <i>ALPK3</i> patients. The patient with the later onset showed milder extracardiac symptoms, such as decreased muscle tone and distal muscular dystrophy, but had fast progression of cardiac complications leading to the need of heart transplantation. This study further elucidates the variability of both symptoms and age of onset among these patients. |
| first_indexed | 2024-03-10T15:36:32Z |
| format | Article |
| id | doaj.art-80b90bd6fcd24dba96ecbe0da31c6454 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T15:36:32Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-80b90bd6fcd24dba96ecbe0da31c64542023-11-20T17:11:52ZengMDPI AGGenes2073-44252020-10-011110120110.3390/genes11101201Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous VariantsJohn Jorholt0Yulia Formicheva1Tatyana Vershinina2Artem Kiselev3Alexey Muravyev4Elena Demchenko5Petr Fedotov6Anna Zlotina7Anton Rygkov8Elena Vasichkina9Thomas Sejersen10Anna Kostareva11Department of Women’s and Children’s Health and Center for Molecular Medicine, Karolinska Institute, 17177 Stockholm, SwedenAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaAlmazov National Medical Research Centre, Saint Petersburg 197341, RussiaDepartment of Women’s and Children’s Health and Center for Molecular Medicine, Karolinska Institute, 17177 Stockholm, SwedenDepartment of Women’s and Children’s Health and Center for Molecular Medicine, Karolinska Institute, 17177 Stockholm, SwedenHypertrophic cardiomyopathy associated with damaging variants in the <i>ALPK3</i> gene is a fairly recent discovery, and only a small number of patients have been described thus far. Here we present two additional patients with hypertrophic cardiomyopathy caused by biallelic variants in <i>ALPK3</i>. Genetic investigation was performed using a targeted gene panel consisting of known cardiomyopathy-associated genes and whole exome sequencing. The patients showed a large difference in the age of onset, and both presented with extracardiac features that are often seen in <i>ALPK3</i> patients. The patient with the later onset showed milder extracardiac symptoms, such as decreased muscle tone and distal muscular dystrophy, but had fast progression of cardiac complications leading to the need of heart transplantation. This study further elucidates the variability of both symptoms and age of onset among these patients.https://www.mdpi.com/2073-4425/11/10/1201hypertrophic cardiomyopathyalpha kinase 3ALPK3 |
| spellingShingle | John Jorholt Yulia Formicheva Tatyana Vershinina Artem Kiselev Alexey Muravyev Elena Demchenko Petr Fedotov Anna Zlotina Anton Rygkov Elena Vasichkina Thomas Sejersen Anna Kostareva Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous Variants Genes hypertrophic cardiomyopathy alpha kinase 3 ALPK3 |
| title | Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous Variants |
| title_full | Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous Variants |
| title_fullStr | Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous Variants |
| title_full_unstemmed | Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous Variants |
| title_short | Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous Variants |
| title_sort | two new cases of hypertrophic cardiomyopathy and skeletal muscle features associated with i alpk3 i homozygous and compound heterozygous variants |
| topic | hypertrophic cardiomyopathy alpha kinase 3 ALPK3 |
| url | https://www.mdpi.com/2073-4425/11/10/1201 |
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