ArticleCirculation. Genomic and precision medicine2023
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.
Article in Circulation. Genomic and precision medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Article
- Tailored therapeutics for cardiomyopathies.Nature reviews. Cardiology · 2025Review
- Cardiovascular aspects of Noonan syndrome and related disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review.ESC heart failure · 2025Article
- Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.European journal of human genetics : EJHG · 2024Observational
- Patterns of Left Ventricular Remodelling in Children and Young Patients with Hypertrophic Cardiomyopathy.Journal of clinical medicine · 2024Article
- Hypertrophic Cardiomyopathy-Current Challenges and Future Perspectives.Journal of clinical medicine · 2023Article
- Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family.Frontiers in cardiovascular medicine · 2023Article
- Everolimus therapy in an infant with Noonan syndrome with multiple lentigines.Annals of pediatric cardiologyArticle
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16 authors at 7 institutions in 3 countries.
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Abstract
backgroundWe aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy.
methodsA retrospective, longitudinal multicenter cohort of consecutive children and adults with a genetic diagnosis of Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy between 2002 and 2019 was assembled. We defined a priori 3 different patterns of left ventricular remodeling during follow-up: (1) an increase in ≥15% of the maximal left ventricular wall thickness (MLVWT), both in mm and
resultsThe cohort comprised 42 patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy, with a median age at diagnosis of 3.5 (interquartile range, 0.2-12.3) years. Freedom from primary end point was 92.7% (95% CI, 84.7%-100%) 1 year after presentation and 80.9% (95% CI, 70.1%-90.7%) at 5 years. Patients with MLVWT
conclusionsThese findings provide insights into the natural history of left ventricular hypertrophy, and can help inform clinicians regarding risk stratification and clinical outcomes in patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy.
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