The heart in RASopathies.

Autor: Delogu AB; Unit of Pediatrics, Pediatric Cardiology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Limongelli G; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli,' Monaldi Hospital, Naples, Italy.; European Reference Network for rare, low-prevalence, or complex disease of the heart (ERN GUARD-Heart), University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy. Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Versacci P; Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, 'Sapienza' University of Rome, Policlinico Umberto I, Rome, Italy., Adorisio R; European Reference Network for rare, low-prevalence, or complex disease of the heart (ERN GUARD-Heart), University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy. Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Cardiac Surgery, Cardiology, Heart and Lung Transplantation, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Kaski JP; Centre for Pediatric Inherited and Rare Cardiovascular Disease, University College London Institute of Cardiovascular Science, London, UK.; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, UK., Blandino R; Università Cattolica del Sacro Cuore, Rome, Italy., Maiolo S; European Reference Network for rare, low-prevalence, or complex disease of the heart (ERN GUARD-Heart), University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy. Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, 'Sapienza' University of Rome, Policlinico Umberto I, Rome, Italy.; Department of Cardiac Surgery, Cardiology, Heart and Lung Transplantation, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Monda E; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli,' Monaldi Hospital, Naples, Italy.; European Reference Network for rare, low-prevalence, or complex disease of the heart (ERN GUARD-Heart), University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy. Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Putotto C; Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, 'Sapienza' University of Rome, Policlinico Umberto I, Rome, Italy., De Rosa G; Unit of Pediatrics, Pediatric Cardiology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Chatfield KC; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, Colorado, USA., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Calcagni G; European Reference Network for rare, low-prevalence, or complex disease of the heart (ERN GUARD-Heart), University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy. Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Cardiac Surgery, Cardiology, Heart and Lung Transplantation, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2022 Dec; Vol. 190 (4), pp. 440-451. Date of Electronic Publication: 2022 Nov 21.
DOI: 10.1002/ajmg.c.32014
Abstrakt: 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.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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