Jacqueline Anne Noonan (1921 – ) American paediatric cardiologist.
Noonan has been extensively involved in medical education and received multiple awards and honorary fellowships during her years of practice.
Eponymously remembered for her description of Noonan syndrome in 1968
- Born 28 October 1928 in Burlington, Vermont
- 1950 – Chemistry degree from the Albertus Magnus College, New Haven
- 1954 – Medical degree, University of Vermont
- 1955 – Pediatric residency training, Children’s Hospital, Cincinnati
- 1959 – First paediatric cardiologist at the University of Iowa
- 1961 – University of Kentucky College of Medicine
- 1969 – Professor of pediatric cardiology, University of Kentucky
- 1974 – Chairman of pediatric cardiology, University of Kentucky
- 2008 – National Physician of the Year Awards Honouree for Lifetime Achievement
Noonan syndrome (1968)
Noonan’s syndrome is an autosomal dominant genetic condition with mutations affecting the RAS signaling pathway. It is still primarily a clinical diagnosis. Incidence is thought to be around 1 in 1,000-2500 live births. There is high variability in presentation but characteristic features include: short stature, chest deformity, facial features and cardiac disease. It is the second most common genetic syndrome associated with congenital cardiac defects, most commonly hypertrophic cardiomyopathy and pulmonary stenosis.
In 1962, Jacqueline Noonan (1921 – ) and Dorothy A. Ehmke (1920-2000) presented at the Midwest Society for Pediatric Research in 1962 the clinical study of associated non-cardiac malformations in 833 children with congenital heart disease and described nine patients who shared a phenotype suggestive of Turner syndrome, all of whom had valvular pulmonary stenosis. Noonan felt this represented a new syndrome because it occurred in both males and females, had normal chromosomes, was associated with a congenital cardiac defect and could be inherited.
Of particular interest was the recognition of a previously unreported syndrome in 9 patients with valvular pulmonary stenosis. These children were characterized by small stature, hypertelorism, mild mental retardation, and in some instances by ptosis, undescended testes, and skeletal malformations. There were 6 males and 3 females who fit this syndrome and resembled each other in a striking manner.Noonan, Ehmke 1962
1968 – Noonan published her report of 19 patients. Of note, four other papers appeared in the same October issue of American journal of diseases of children. 1968; 116(4)) describing similar patients. Three of the papers used the term “Turner phenotype” and two used the term Noonan syndrome.
Noonan’s paper highlighted differences between the syndrome and Turners (45XO), noting that no patients with a chromosomal diagnosis of 45XO had pulmonary stenosis. The article suggested that those with pulmonary stenosis, previously suggested to be a different subtype or mosaicism of Turners, were likely misdiagnosed and that patients previously highlighted in literature as “Male Turners Syndrome” were also likely this new syndrome
Nineteen patients with multiple congenital anomalies were seen who seem to fit a definite syndrome. All share a rather characteristic similar facies, and 17 were quite short in stature. Although normal secondary sex characteristics eventually develop, puberty is delayed. Mental retardation is frequent but is not a constant finding. All of these patients had congenital heart disease, with valvular pulmonary stenosis present in 17 and a patent ductus arteriosus in two patients. The syndrome occurs in both males and females. There is no evidence of a chromosome abnormality in this syndrome, but review of the family history suggests it may be a familial disease. The mode of transmission, however, is uncertain.Noonan 1968
In 1985, John Marius Opitz suggested the condition be named “Noonan Syndrome” in a presentation at the Society for Paediatric research. Dr Noonan herself did not refer to the syndrome as “Noonan Syndrome” until 1972.
- Noonan JA, Ehmke DA. Associated noncardiac malformations in children with congenital heart disease. Abstract. J Pediatr. 1963;63(3): 468-470
- Noonan JA. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child. 1968;116(4):373-380.
- Noonan JA. Noonan syndrome a historical perspective. Heart Views. 2002;3:13-13
- Opitz JM. The Noonan syndrome. Am J Med Genet. 1985;21(3):515-518.
- Beighton P, Beighton G. NOONAN, Jacqueline A (b. 1928). In: The Person Behind the Syndrome. Springer 1996: 120-122
the person behind the name