Targeted therapies in pediatric and adult patients with hypertrophic heart disease: from molecular pathophysiology to personalized medicine

E Monda, A Bakalakos, M Rubino, F Verrillo… - Circulation: Heart …, 2023 - Am Heart Assoc
Hypertrophic cardiomyopathy is a myocardial disease defined by an increased left
ventricular wall thickness not solely explained by abnormal loading conditions. It is often …

[HTML][HTML] The diagnostic and therapeutic implications of phenocopies and mimics of Hypertrophic Cardiomyopathy

A Bakalakos, E Monda, PM Elliott - Canadian Journal of Cardiology, 2024 - Elsevier
Hypertrophic cardiomyopathy (HCM) is a common myocardial disease defined by increased
left ventricular wall thickness unexplained by loading conditions. It is frequently caused by …

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

A Gazzin, F Fornari, M Niceta, C Leoni… - European Journal of …, 2024 - nature.com
Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in
Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated with high …

Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives

E Monda, G Limongelli, F Pelliccia - Journal of Clinical Medicine, 2023 - mdpi.com
Hypertrophic cardiomyopathy (HCM) is a myocardial disorder characterized by left
ventricular (LV) hypertrophy, which cannot be entirely attributed to loading conditions such …

Patterns of Left Ventricular Remodelling in Children and Young Patients with Hypertrophic Cardiomyopathy

E Monda, M Caiazza, C Cirillo… - Journal of Clinical …, 2024 - pmc.ncbi.nlm.nih.gov
Introduction: The aim of this study was to evaluate the age at onset, clinical course, and
patterns of left ventricular (LV) remodelling during follow-up in children and young patients …

Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family

CH Chan, MF Chu, UP Lam, TM Mok… - Frontiers in …, 2023 - frontiersin.org
Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome)
is a variant of Noonan syndrome which is an autosomal dominant disorder. Most cases of …

Atypical left-ventricular hypertrophy with apical aneurysm in leopard syndrome

JA Fernandez-Sanchez, L Cobarro-Galvez… - … International Journal of …, 2024 - Springer
Abstract Noonan Syndrome with Multiple Lentigines (NSML-formerly known as LEOPARD
syndrome) is a rare autosomal dominant condition that usually exhibits cardiac involvement …

Cardiovascular Disease in the RASopathies

KC Chatfield - The RASopathies: Genetic Syndromes of the RAS …, 2024 - Springer
Cardiovascular disease is an important feature of the RASopathy disorders: Noonan, cardio-
facio-cutaneous, and Costello syndromes with significant implications for short-and long …

Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple …

I Östman-Smith - Circulation: Genomic and Precision Medicine, 2023 - Am Heart Assoc
Noonan syndrome with multiple lentigines (NSML) is a RASopathy characterized by features
of multiple lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonary …

[引用][C] LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review

Y Zhou, K Yang, K Ma, M Lu - ESC Heart Failure, 2024 - Wiley Online Library
Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD
syndrome, is a rare autosomal dominant genetic disease with only over 200 reported cases …