The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence.

Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean height standard deviation score (SDS), with first-year changes of up to 1.

Cardiac findings in Noonan syndrome on long-term follow-up.

Objective: Noonan syndrome (NS) is the second most common genetic syndrome associated with cardiac abnormalities, including, most notably, pulmonary stenosis (PS) and hypertrophic cardiomyopathy (HCM). Little is known about the natural history of heart disease in this unique subset of patients. We sought to contribute information on the natural history of NS by looking at how the cardiac disease progresses with time.

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis.

Cardiomyopathy of unknown etiology: Barth syndrome unrecognized.

This is a report of a child who died at 20 months from what was clinically thought to be cardiomyopathy of unknown etiology. Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. Barth syndrome presents in infancy or childhood with cardiomyopathy, hypotonia, growth delays, and cyclic neutropenia.

Life-long follow-up in congenitally corrected transposition.

A male patient with congenitally corrected transposition, with no associated cardiac malformations, was diagnosed in childhood and followed until his death at age 28. He underwent two cardiac gated single photon emission computed tomographies over a two year period, which demonstrated progression of ischaemia and reduction of systolic function. The findings suggest that, when the systemic ventricle is perfused by the morphologically right coronary artery, there may be inadequate perfusion to supply any subsequent extensive hypertrophy.

Noonan syndrome and related disorders: alterations in growth and puberty.

Noonan syndrome is a relatively common multiple malformation syndrome with characteristic facies, short stature and congenital heart disease, most commonly pulmonary stenosis (Noonan, Clin Pediatr, 33:548-555, 1994). Recently, a mutation in the PTPN11 gene (Tartaglia, Mehler, Goldberg, Zampino, Brunner, Kremer et al., Nat Genet, 29:465-468, 2001) was found to be present in about 50% of individuals with Noonan syndrome.

Quality of life and social outcomes in adults with congenital heart disease living in rural areas of Kentucky.

As revealed by a quality-of-life survey done in a small rural Kentucky cohort, adults who live in rural areas who have congenital heart disease have a relatively poor health-related quality of life and face unique challenges in gaining employment, maintaining health insurance, and overcoming the perceived childhood stigma of being "different."

A history of pediatric specialties: the development of pediatric cardiology.

Pediatric cardiology, as a discipline, arose from early descriptive studies of congenital cardiac defects. The development of the stethoscope allowed some clinical diagnoses to be made during life. Cardiology as a medical specialty was limited, mainly, to internists.

Adult height in Noonan syndrome.

Short stature is a very common manifestation of Noonan syndrome (NS) and is accompanied by a variable delay in bone age. Although reports of adult height in NS are uncommon, some feel growth hormone therapy will increase adult height. We report our findings in 73 adults over 21 years of age with NS.

Fatal Kawasaki disease due to coronary aneurysm rupture with massive cardiac tamponade.

Kawasaki disease (KD), an acute febrile childhood vasculitis of unknown etiology, preferentially involves the coronary arteries. Diagnosis typically rests on strict clinical criteria. If untreated, KD may be complicated by coronary arteritis and progress to aneurysm formation, thereby predisposing the child to a small but significant risk of death.