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

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 NSML are secondary to mutations of the protein-tyrosine phosphatase nonreceptor type 11 (PTPN11). Hypertrophic cardiomyopathy (HC...

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Autores principales: Chan, Chon-Hou, Chu, Man-Fong, Lam, U-Po, Mok, Toi-Meng, Tam, Weng-Chio, Tomlinson, Brian, Coelho, Ricardo, Évora, Màrio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10484218/
https://www.ncbi.nlm.nih.gov/pubmed/37692036
http://dx.doi.org/10.3389/fcvm.2023.1225667
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author Chan, Chon-Hou
Chu, Man-Fong
Lam, U-Po
Mok, Toi-Meng
Tam, Weng-Chio
Tomlinson, Brian
Coelho, Ricardo
Évora, Màrio
author_facet Chan, Chon-Hou
Chu, Man-Fong
Lam, U-Po
Mok, Toi-Meng
Tam, Weng-Chio
Tomlinson, Brian
Coelho, Ricardo
Évora, Màrio
author_sort Chan, Chon-Hou
collection PubMed
description 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 NSML are secondary to mutations of the protein-tyrosine phosphatase nonreceptor type 11 (PTPN11). Hypertrophic cardiomyopathy (HCM) remains the most frequent and serious cardiac abnormality in this inherited syndrome, and it may lead to sudden cardiac death related to HCM-associated outflow obstruction and fatal arrhythmia. Beyond cardiac involvement, NSML may present with multiple lentigines, ocular hypertelorism, genital anomalies, short stature and deafness. Herein, we report three patients with NSML among three generations in one family, all presenting with multiple lentigines, HCM and other distinctive clinical and molecular features, including facial dysmorphism, deafness, family history of sudden death and PTPN11 mutations. This case series highlights the importance of early echocardiography examinations for patients with NSML. Careful family screening and genetic counselling are also necessary, especially in patients with diffuse lentigines or a history of sudden death among family members. We also discuss the distinctive cardiac features and phenotypic characteristics at different stages of NSML, including childhood, adulthood and elderhood.
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spelling pubmed-104842182023-09-08 Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family Chan, Chon-Hou Chu, Man-Fong Lam, U-Po Mok, Toi-Meng Tam, Weng-Chio Tomlinson, Brian Coelho, Ricardo Évora, Màrio Front Cardiovasc Med Cardiovascular Medicine 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 NSML are secondary to mutations of the protein-tyrosine phosphatase nonreceptor type 11 (PTPN11). Hypertrophic cardiomyopathy (HCM) remains the most frequent and serious cardiac abnormality in this inherited syndrome, and it may lead to sudden cardiac death related to HCM-associated outflow obstruction and fatal arrhythmia. Beyond cardiac involvement, NSML may present with multiple lentigines, ocular hypertelorism, genital anomalies, short stature and deafness. Herein, we report three patients with NSML among three generations in one family, all presenting with multiple lentigines, HCM and other distinctive clinical and molecular features, including facial dysmorphism, deafness, family history of sudden death and PTPN11 mutations. This case series highlights the importance of early echocardiography examinations for patients with NSML. Careful family screening and genetic counselling are also necessary, especially in patients with diffuse lentigines or a history of sudden death among family members. We also discuss the distinctive cardiac features and phenotypic characteristics at different stages of NSML, including childhood, adulthood and elderhood. Frontiers Media S.A. 2023-08-24 /pmc/articles/PMC10484218/ /pubmed/37692036 http://dx.doi.org/10.3389/fcvm.2023.1225667 Text en © 2023 Chan, Chu, Lam, Mok, Tam, Tomlinson, Coelho and Évora. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Chan, Chon-Hou
Chu, Man-Fong
Lam, U-Po
Mok, Toi-Meng
Tam, Weng-Chio
Tomlinson, Brian
Coelho, Ricardo
Évora, Màrio
Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family
title Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family
title_full Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family
title_fullStr Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family
title_full_unstemmed Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family
title_short Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family
title_sort case report: distinctive cardiac features and phenotypic characteristics of noonan syndrome with multiple lentigines among three generations in one family
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10484218/
https://www.ncbi.nlm.nih.gov/pubmed/37692036
http://dx.doi.org/10.3389/fcvm.2023.1225667
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