eprintid: 10163025
rev_number: 8
eprint_status: archive
userid: 699
dir: disk0/10/16/30/25
datestamp: 2023-01-11 10:52:08
lastmod: 2023-11-22 07:10:06
status_changed: 2023-01-11 10:52:08
type: article
metadata_visibility: show
sword_depositor: 699
creators_name: Delogu, Angelica Bibiana
creators_name: Limongelli, Giuseppe
creators_name: Versacci, Paolo
creators_name: Adorisio, Rachele
creators_name: Kaski, Juan Pablo
creators_name: Blandino, Rita
creators_name: Maiolo, Stella
creators_name: Monda, Emanuele
creators_name: Putotto, Carolina
creators_name: De Rosa, Gabriella
creators_name: Chatfield, Kathryn C
creators_name: Gelb, Bruce D
creators_name: Calcagni, Giulio
title: The heart in RASsopathies
ispublished: pub
divisions: UCL
divisions: B02
divisions: D14
keywords: ATRIOVENTRICULAR-CANAL DEFECT, cardio-facio-cutaneous syndrome, CARDIOVASCULAR-ABNORMALITIES, congenital heart disease, Costello syndrome, EUROPEAN-SOCIETY, FACIO-CUTANEOUS SYNDROME, Genetics & Heredity, GENOTYPE-PHENOTYPE ANALYSIS, LEFT-VENTRICULAR HYPERTROPHY, Life Sciences & Biomedicine, NATURAL-HISTORY, Noonan syndrome, Noonan syndrome with multiple lentigines, NOONAN-LIKE SYNDROME, OF-FUNCTION MUTATIONS, RASopathy, Science & Technology, SYNDROME CLINICAL-FEATURES
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
abstract: The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and hypertrophic cardiomyopathy by Hirsch et al. in 1975. Because of the common underlying RAS/MAPK pathway dysregulation, RASopathy syndromes usually present with a typical spectrum of overlapping cardiovascular anomalies, although less common cardiac defects can occur. The identification of the causative genetic variants has enabled the recognition of specific correlations between genotype and cardiac phenotype. Characterization and understanding of genotype–phenotype associations is not only important for counseling a family of an infant with a new diagnosis of a RASopathy condition but is also critical for their clinical prognosis with respect to cardiac disease, neurodevelopment and other organ system involvement over the lifetime of the patient. This review will focus on the cardiac manifestations of the most common RASopathy syndromes, the relationship between cardiac defects and causal genetic variation, the contribution of cardiovascular abnormalities to morbidity and mortality and the most relevant follow-up issues for patients affected by RAS/MAPK pathway diseases, with respect to cardiac clinical outcomes and management, in children and in the adult population.
date: 2022-11-21
date_type: published
publisher: WILEY
official_url: https://doi.org/10.1002/ajmg.c.32014
oa_status: green
full_text_type: other
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 1993396
doi: 10.1002/ajmg.c.32014
medium: Print-Electronic
lyricists_name: Kaski, Juan Pablo
lyricists_id: JPKAS28
actors_name: Dewerpe, Marie
actors_id: MDDEW97
actors_role: owner
full_text_status: public
publication: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
volume: 190
number: 4
pagerange: 440-451
pages: 12
event_location: United States
citation:        Delogu, Angelica Bibiana;    Limongelli, Giuseppe;    Versacci, Paolo;    Adorisio, Rachele;    Kaski, Juan Pablo;    Blandino, Rita;    Maiolo, Stella;                         ... Calcagni, Giulio; + view all <#>        Delogu, Angelica Bibiana;  Limongelli, Giuseppe;  Versacci, Paolo;  Adorisio, Rachele;  Kaski, Juan Pablo;  Blandino, Rita;  Maiolo, Stella;  Monda, Emanuele;  Putotto, Carolina;  De Rosa, Gabriella;  Chatfield, Kathryn C;  Gelb, Bruce D;  Calcagni, Giulio;   - view fewer <#>    (2022)    The heart in RASsopathies.                   American Journal of Medical Genetics Part C: Seminars in Medical Genetics , 190  (4)   pp. 440-451.    10.1002/ajmg.c.32014 <https://doi.org/10.1002/ajmg.c.32014>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10163025/1/Kaski_AJMG-C-22-0064.R1_Proof_.pdf