Echocardiographic Studies of Left Ventricular Disease in Ullrich-Noonan Syndrome

Atrioventricular canal defect in patients with RASopathies

“…19,35 The first clinical series reported a figure of 15% AVCD in NS. [5][6][7]16,36,37 In more recent molecular studies, however, AVCD was described only in a few patients, arguing that it might represent a relatively rare complication in RASopathies. It is likely that this discrepancy could be simply a matter of misdiagnosis, as shown by personal experience based on cases originally designated as 'non-Down AVCD syndrome' , displaying 'peculiar facial appearance with hypertelorism, epicanthus, depressed nasal bridge and ear anomalies' , 38 which later were proved to be affected by NS.…”

Cardiovascular malformations in Turner's and Noonan's syndrome.

“…In the few pathological reports on cases of Noonan's syndrome, widespread myocardial hypertrophy and fibrosis have either been the main findings and cause of death (Ehlers et al, 1972;Phornphutkul et al, 1973;Hirsch et al, 1975) or an incidental finding in patients with otherwise 'isolated' pulmonary valve stenosis (Becu et al, 1976). The latter study, in which changes resembling hypertrophic cardiomyopathy were found, and recent echocardiographic investigation (Nora et al, 1975) suggest that generalised myocardial disease in Noonan's syndrome is more common than has hitherto been thought. However, detailed electrophysiological and histological studies of the conduction system will be needed to elucidate further the link between the electrocardiographic changes and this myocardial involvement.…”

“…In surveys in which this type of selection was not present, the incidence was found to be 20 per cent (Haddad and Wilkins, 1959) and 21 per cent (Vernant et al, 1966) in Turner's syndrome and 47 per cent (Siggers and Polani, 1972), 35 per cent (Nora et al, 1974), and 50 per cent (Nora et al, 1975) in Noonan's syndrome. In Turner's syndrome left-sided cardiovascular lesions predominate.…”

“…Early recognition of asymptomatic cases is now possible by means of echocardiography. A recent study indicates that asymmetrical septal hypertrophy is common in individuals with Noonan's syndrome not clinically suspected of having cardiac disease (Nora et al, 1975).…”

Obstructive Cardiomyopathy in a Male Dwarf with Cryptorchidism

“…The association of this disorder with several other hereditary syn.dromes has been reported. Several authors have documented the combination of obstructive cardiomyopathy and physical features of Turner syndrome and a normal component of chromosomes (Hellers ~1 al., 1965;Hirsch et al, 1975;Nora et al, 1975). Congestive cardiomyopathy has also been reported in a case of Noonan syndrome, a variant of the male Turner syndrome (Battiste et al, 1977).…”