ArticleGenes2020
Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy.
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 20 citations in OpenAlex.
- Hypertrophic Cardiomyopathy-Current Challenges and Future Perspectives.Journal of clinical medicine · 2023Article
- The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up ResultsJournal of clinical research in pediatric endocrinology · 2022Article
- Multimodality Imaging in Cardiomyopathies with Hypertrophic Phenotypes.Journal of clinical medicine · 2022Review
- Case report: Clinical manifestations and genotype analysis of a child withFrontiers in pediatrics · 2022Article
- Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.Heart failure clinics · 2022Review
- Special Issue "Cardiovascular Genetics".Genes · 2021Article
- Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes.Frontiers in pediatrics · 2021Review
- Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this report, an atypical case of Noonan syndrome (NS) associated with sarcomeric hypertrophic cardiomyopathy (HCM) in a 33-year-old patient was described. Genetic testing revealed two different disease-causing mutations: a mutation in the PTPN11 gene, explaining NS, and a mutation in the MYBPC3 gene, known to be associated with HCM. This case exemplifies the challenge in achieving a definite etiological diagnosis in patients with HCM and the need to exclude other diseases mimicking this condition (genocopies or phenocopies). Compound heterozygous mutations are rare but possible in HCM patients. In conclusion, this study highlights the important role of genetic testing as a necessary diagnostic tool for performing a definitive etiological diagnosis of HCM.
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Registered trials
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