Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
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 |
_version_ | 1785102539260166144 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10484218 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT chanchonhou casereportdistinctivecardiacfeaturesandphenotypiccharacteristicsofnoonansyndromewithmultiplelentiginesamongthreegenerationsinonefamily AT chumanfong casereportdistinctivecardiacfeaturesandphenotypiccharacteristicsofnoonansyndromewithmultiplelentiginesamongthreegenerationsinonefamily AT lamupo casereportdistinctivecardiacfeaturesandphenotypiccharacteristicsofnoonansyndromewithmultiplelentiginesamongthreegenerationsinonefamily AT moktoimeng casereportdistinctivecardiacfeaturesandphenotypiccharacteristicsofnoonansyndromewithmultiplelentiginesamongthreegenerationsinonefamily AT tamwengchio casereportdistinctivecardiacfeaturesandphenotypiccharacteristicsofnoonansyndromewithmultiplelentiginesamongthreegenerationsinonefamily AT tomlinsonbrian casereportdistinctivecardiacfeaturesandphenotypiccharacteristicsofnoonansyndromewithmultiplelentiginesamongthreegenerationsinonefamily AT coelhoricardo casereportdistinctivecardiacfeaturesandphenotypiccharacteristicsofnoonansyndromewithmultiplelentiginesamongthreegenerationsinonefamily AT evoramario casereportdistinctivecardiacfeaturesandphenotypiccharacteristicsofnoonansyndromewithmultiplelentiginesamongthreegenerationsinonefamily |