Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant
Background: Hypertrophic cardiomyopathy is an autosomal dominant disease. The main feature of this disorder is its occurrence in patients who present a left ventricular hypertrophy, unexplained by the loading conditions, usually asymmetric with greatest involvement most commonly of the interventricu...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-12-01
|
| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844022036611 |
| _version_ | 1797960895444287488 |
|---|---|
| author | Walter Serra Giulia Vitetta Vera Uliana Federico Barocelli Valeria Barili Isabella Allegri Diego Ardissino Francesca Gualandi Antonio Percesepe |
| author_facet | Walter Serra Giulia Vitetta Vera Uliana Federico Barocelli Valeria Barili Isabella Allegri Diego Ardissino Francesca Gualandi Antonio Percesepe |
| author_sort | Walter Serra |
| collection | DOAJ |
| description | Background: Hypertrophic cardiomyopathy is an autosomal dominant disease. The main feature of this disorder is its occurrence in patients who present a left ventricular hypertrophy, unexplained by the loading conditions, usually asymmetric with greatest involvement most commonly of the interventricular septum.Case presentation During a sports medicine control, a ultrasound scan in a 17 years old patient has shown a concentric left ventricular parietal hypertrophy associated with a 23 mm mid- basal interventricular septum thickness. After genetic counselling, a positive family history for hypertrophic cardiac disease and parents’ consanguineity was found. The genetic basis of the hypertrophic cardiomyopathy was investigated through a dedicated gene panel. The genetic test has revealed the presence of the variant c.3424G>A (p.Glu1142Lys) in the MYH7 gene in a homozygous state. Genotyping of the parents and of the two brothers revealed the presence of the MYH7 variant in heterozygosity in both parents and in the younger brother. In all of them, variable signs of hypertrophic cardiomyopathy were found. Conclusions: Our findings report the presence of a homozygous variant in a sarcomeric gene (MYH7) which gave rise to early HCM, whereas the variant in a heterozygous state was associated to much milder cardiac phenotypes in the affected relatives. The onset and the progression of the hypertrophic cardiomyopathy in the reported family is to be referred to the presence of the variant in hetero- or homo-zygosity in a gene dosage manner. |
| first_indexed | 2024-04-11T00:51:09Z |
| format | Article |
| id | doaj.art-6b6bd0c7d7e543a2a9a15df01c6b3f9c |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-11T00:51:09Z |
| publishDate | 2022-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-6b6bd0c7d7e543a2a9a15df01c6b3f9c2023-01-05T08:40:09ZengElsevierHeliyon2405-84402022-12-01812e12373Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variantWalter Serra0Giulia Vitetta1Vera Uliana2Federico Barocelli3Valeria Barili4Isabella Allegri5Diego Ardissino6Francesca Gualandi7Antonio Percesepe8Cardiology Division, University Hospital of Parma, Italy; Corresponding author.Medical Genetics Unit, University Hospital of Parma, ItalyMedical Genetics Unit, University Hospital of Parma, ItalyCardiology Division, University Hospital of Parma, ItalyMedical Genetics, Department of Medicine and Surgery, University of Parma, ItalyNeurology Unit, University Hospital of Parma, ItalyCardiology Division, University Hospital of Parma, ItalyMedical Genetics Service, Department of Mother and Child, University Hospital S. Anna, Ferrara, ItalyMedical Genetics, Department of Medicine and Surgery, University of Parma, ItalyBackground: Hypertrophic cardiomyopathy is an autosomal dominant disease. The main feature of this disorder is its occurrence in patients who present a left ventricular hypertrophy, unexplained by the loading conditions, usually asymmetric with greatest involvement most commonly of the interventricular septum.Case presentation During a sports medicine control, a ultrasound scan in a 17 years old patient has shown a concentric left ventricular parietal hypertrophy associated with a 23 mm mid- basal interventricular septum thickness. After genetic counselling, a positive family history for hypertrophic cardiac disease and parents’ consanguineity was found. The genetic basis of the hypertrophic cardiomyopathy was investigated through a dedicated gene panel. The genetic test has revealed the presence of the variant c.3424G>A (p.Glu1142Lys) in the MYH7 gene in a homozygous state. Genotyping of the parents and of the two brothers revealed the presence of the MYH7 variant in heterozygosity in both parents and in the younger brother. In all of them, variable signs of hypertrophic cardiomyopathy were found. Conclusions: Our findings report the presence of a homozygous variant in a sarcomeric gene (MYH7) which gave rise to early HCM, whereas the variant in a heterozygous state was associated to much milder cardiac phenotypes in the affected relatives. The onset and the progression of the hypertrophic cardiomyopathy in the reported family is to be referred to the presence of the variant in hetero- or homo-zygosity in a gene dosage manner.http://www.sciencedirect.com/science/article/pii/S2405844022036611Hypertrophic cardiomyopathyImagingGenetic analysis |
| spellingShingle | Walter Serra Giulia Vitetta Vera Uliana Federico Barocelli Valeria Barili Isabella Allegri Diego Ardissino Francesca Gualandi Antonio Percesepe Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant Heliyon Hypertrophic cardiomyopathy Imaging Genetic analysis |
| title | Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant |
| title_full | Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant |
| title_fullStr | Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant |
| title_full_unstemmed | Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant |
| title_short | Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant |
| title_sort | severe hypertrophic cardiomyopathy in a patient with a homozygous myh7 gene variant |
| topic | Hypertrophic cardiomyopathy Imaging Genetic analysis |
| url | http://www.sciencedirect.com/science/article/pii/S2405844022036611 |
| work_keys_str_mv | AT walterserra severehypertrophiccardiomyopathyinapatientwithahomozygousmyh7genevariant AT giuliavitetta severehypertrophiccardiomyopathyinapatientwithahomozygousmyh7genevariant AT verauliana severehypertrophiccardiomyopathyinapatientwithahomozygousmyh7genevariant AT federicobarocelli severehypertrophiccardiomyopathyinapatientwithahomozygousmyh7genevariant AT valeriabarili severehypertrophiccardiomyopathyinapatientwithahomozygousmyh7genevariant AT isabellaallegri severehypertrophiccardiomyopathyinapatientwithahomozygousmyh7genevariant AT diegoardissino severehypertrophiccardiomyopathyinapatientwithahomozygousmyh7genevariant AT francescagualandi severehypertrophiccardiomyopathyinapatientwithahomozygousmyh7genevariant AT antoniopercesepe severehypertrophiccardiomyopathyinapatientwithahomozygousmyh7genevariant |