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Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
Am J Med Genet A 2016; 170(3):665-9AJ

Abstract

Noonan syndrome (NS) is the second most frequent hereditary syndrome with cardiac involvement. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most prevalent cardiovascular abnormalities. We report on a 14-year-old girl with NS due to SOS1 mutation with pulmonary stenosis and idiopathic coronary ectasia. To the best of our knowledge, this is the first report describing coronary ectasia in a patient with NS secondary to a SOS1 mutation. We include a literature review of this rare association.

Authors+Show Affiliations

Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26686981

Citation

Calcagni, Giulio, et al. "Coronary Artery Ectasia in Noonan Syndrome: Report of an Individual With SOS1 Mutation and Literature Review." American Journal of Medical Genetics. Part A, vol. 170, no. 3, 2016, pp. 665-9.
Calcagni G, Baban A, De Luca E, et al. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. Am J Med Genet A. 2016;170(3):665-9.
Calcagni, G., Baban, A., De Luca, E., Leonardi, B., Pongiglione, G., & Digilio, M. C. (2016). Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. American Journal of Medical Genetics. Part A, 170(3), pp. 665-9. doi:10.1002/ajmg.a.37505.
Calcagni G, et al. Coronary Artery Ectasia in Noonan Syndrome: Report of an Individual With SOS1 Mutation and Literature Review. Am J Med Genet A. 2016;170(3):665-9. PubMed PMID: 26686981.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. AU - Calcagni,Giulio, AU - Baban,Anwar, AU - De Luca,Enrica, AU - Leonardi,Benedetta, AU - Pongiglione,Giacomo, AU - Digilio,Maria Cristina, Y1 - 2015/12/21/ PY - 2015/03/28/received PY - 2015/11/29/accepted PY - 2015/12/22/entrez PY - 2015/12/22/pubmed PY - 2016/12/15/medline KW - Noonan syndrome (NS) KW - SOS1 KW - coronary artery ectasia SP - 665 EP - 9 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 170 IS - 3 N2 - Noonan syndrome (NS) is the second most frequent hereditary syndrome with cardiac involvement. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most prevalent cardiovascular abnormalities. We report on a 14-year-old girl with NS due to SOS1 mutation with pulmonary stenosis and idiopathic coronary ectasia. To the best of our knowledge, this is the first report describing coronary ectasia in a patient with NS secondary to a SOS1 mutation. We include a literature review of this rare association. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26686981/Coronary_artery_ectasia_in_Noonan_syndrome:_Report_of_an_individual_with_SOS1_mutation_and_literature_review_ L2 - https://doi.org/10.1002/ajmg.a.37505 DB - PRIME DP - Unbound Medicine ER -