Noonan syndrome associated with hypoplastic left heart syndrome

Noonan syndrome associated with hypoplastic left heart syndrome

Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this p...

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Veröffentlicht in:Cardiology in the young 2023-04, Vol.33 (4), p.652-654
Hauptverfasser: Lawrence, Kendall M., Burstein, Danielle S., Ahrens-Nicklas, Rebecca, Gaynor, J. William, Nuri, Muhammad A.
Format: Artikel
Sprache:eng
Schlagworte:
Autopsies
Cardiac Anatomy and Pathology
Genetic Association Studies
Genotype & phenotype
Genotypes
Growth factors
Heart surgery
Humans
Hypoplastic Left Heart Syndrome - complications
Hypoplastic Left Heart Syndrome - genetics
MAP kinase
Medical prognosis
Mutation
Neuroblastoma
Noonan Syndrome - complications
Noonan Syndrome - diagnosis
Noonan Syndrome - genetics
Noonan's syndrome
Patients
Phenotype
Phenotypes
Ventricle
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Zusammenfassung:Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this population. Here, we report two patients with PTPN11-related Noonan syndrome and hypoplastic left heart syndrome variants.
ISSN:1047-9511
1467-1107
DOI:10.1017/S1047951122002529