TY - JOUR
T1 - Coronary artery ectasia in Noonan syndrome
T2 - 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
PY - 2016/3/1
Y1 - 2016/3/1
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.
AB - 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.
KW - Coronary artery ectasia
KW - Noonan syndrome (NS)
KW - SOS1
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U2 - 10.1002/ajmg.a.37505
DO - 10.1002/ajmg.a.37505
M3 - Article
AN - SCOPUS:84959489381
SN - 1552-4825
VL - 170
SP - 665
EP - 669
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -