A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome
MELAS is a systemic hereditary condition that can present as hypertrophic or mixed hypertrophic and dilated phenotype cardiomyopathy in young individuals, although a late-onset form is also described in the literature. Genetic testing is essential for correct diagnosis and appropriate management.
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2023-09-01
|
| Series: | Romanian Journal of Cardiology |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/rjc-2023-0020 |
| _version_ | 1797659564864176128 |
|---|---|
| author | Casian Mihnea Dragotoiu Nic Onciul Sebastian Popescu Bogdan A. Jurcuţ Ruxandra |
| author_facet | Casian Mihnea Dragotoiu Nic Onciul Sebastian Popescu Bogdan A. Jurcuţ Ruxandra |
| author_sort | Casian Mihnea |
| collection | DOAJ |
| description | MELAS is a systemic hereditary condition that can present as hypertrophic or mixed hypertrophic and dilated phenotype cardiomyopathy in young individuals, although a late-onset form is also described in the literature. Genetic testing is essential for correct diagnosis and appropriate management. |
| first_indexed | 2024-03-11T18:15:55Z |
| format | Article |
| id | doaj.art-3399133fed8a4109b54f8c3d37356789 |
| institution | Directory Open Access Journal |
| issn | 2734-6382 |
| language | English |
| last_indexed | 2024-03-11T18:15:55Z |
| publishDate | 2023-09-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Romanian Journal of Cardiology |
| spelling | doaj.art-3399133fed8a4109b54f8c3d373567892023-10-16T06:08:02ZengSciendoRomanian Journal of Cardiology2734-63822023-09-0133311812210.2478/rjc-2023-0020A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndromeCasian Mihnea0Dragotoiu Nic1Onciul Sebastian2Popescu Bogdan A.3Jurcuţ Ruxandra41Expert Center for Rare Cardiac Diseases, Institute for Cardiovascular Diseases Prof. Dr. C.C. Iliescu, Şos. Fundeni no. 258, Bucharest, Romania, 0223283Institute for Cardiovascular Diseases Prof. Dr. C.C. Iliescu, Şos. Fundeni no. 258, Bucharest, Romania, 0223282Carol Davila University of Medicine and Pharmacy, Bulevardul Eroii Sanitari 8, Bucharest, Romania, 0504743Institute for Cardiovascular Diseases Prof. Dr. C.C. Iliescu, Şos. Fundeni no. 258, Bucharest, Romania, 0223281Expert Center for Rare Cardiac Diseases, Institute for Cardiovascular Diseases Prof. Dr. C.C. Iliescu, Şos. Fundeni no. 258, Bucharest, Romania, 022328MELAS is a systemic hereditary condition that can present as hypertrophic or mixed hypertrophic and dilated phenotype cardiomyopathy in young individuals, although a late-onset form is also described in the literature. Genetic testing is essential for correct diagnosis and appropriate management.https://doi.org/10.2478/rjc-2023-0020melasmitochondrial diseasehereditary cardiomyopathygenetic testmelasboală mitocondrialăcardiomiopatie ereditarătestare genetică |
| spellingShingle | Casian Mihnea Dragotoiu Nic Onciul Sebastian Popescu Bogdan A. Jurcuţ Ruxandra A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome Romanian Journal of Cardiology melas mitochondrial disease hereditary cardiomyopathy genetic test melas boală mitocondrială cardiomiopatie ereditară testare genetică |
| title | A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome |
| title_full | A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome |
| title_fullStr | A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome |
| title_full_unstemmed | A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome |
| title_short | A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome |
| title_sort | rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy the melas syndrome |
| topic | melas mitochondrial disease hereditary cardiomyopathy genetic test melas boală mitocondrială cardiomiopatie ereditară testare genetică |
| url | https://doi.org/10.2478/rjc-2023-0020 |
| work_keys_str_mv | AT casianmihnea ararecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome AT dragotoiunic ararecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome AT onciulsebastian ararecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome AT popescubogdana ararecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome AT jurcutruxandra ararecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome AT casianmihnea rarecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome AT dragotoiunic rarecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome AT onciulsebastian rarecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome AT popescubogdana rarecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome AT jurcutruxandra rarecauseofmixedhypertrophicanddilatedphenotypecardiomyopathythemelassyndrome |