Congenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosomes (Ullrich's and related syndromes).

Siggers, D C; Polani, P. E.

doi:10.1136/hrt.34.1.41

Cited by 32 publications

(10 citation statements)

References 11 publications

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“…Heart defects in Noonan syndrome consist of pulmonary stenosis (about 30% of cases) sometimes with dysplastic pulmonary valve, left ventricular hypertrophy (about 20% of cases), sometimes with hypertrophic cardiomyopathy, about 25% of cases atrial, or ventricular septal defect and others [4,5,8,[12][13][14][15][16][17][18][19]22].…”

Section: Introductionmentioning

confidence: 99%

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

et al. 1995

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Section: Introductionmentioning

confidence: 99%

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

et al. 1995

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“…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.…”

Section: Discussionmentioning

confidence: 99%

“…The prevalence of this anomaly in most cardiological studies may be the result of a certain bias which leads the cardiologist to make the diagnosis of Noonan's syndrome more readily when there is pulmonary stenosis than when any other cardiac malformation is present. This is borne out by the observation that the incidence of pulmonary stenosis is lower in surveys based on patients collected from various departments and not exclusively from the cardiac clinic (Char et al, 1972;Siggers and Polani, 1972) and in familial cases (Char et al, 1972;Ehlers et al, 1972).…”

Section: Discussionmentioning

confidence: 99%

“…Some authors (Siggers and Polani, 1972) do not consider Noonan's syndrome to be a distinct entity and use the term 'Turner's syndrome' also to describe male patients with normal XY karyotype and hypogonadism. These authors use the term Ullrich's syndrome for male and female patients with features of Turner's syndrome but normal chromosomes and normal sexual development.…”

Section: History and Definitionsmentioning

confidence: 99%

“…In recent years this latter combination has usually been called Noonan's syndrome. The predominance of pulmonary stenosis in this syndrome has been clearly shown (Celermajer et al, 1968;Noonan, 1968;Nora et al, 1970;Siggers and Polani, 1972;Nora et al, 1974). However, relatively few patients have been reported with complete chromosomal, phenotypic, and cardiological evaluation.…”

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confidence: 91%

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

Hauwaert¹,

Fryns²,

Dumoulin³

et al. 1978

Heart

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The cardiovascular findings in 9 patients with Turner's syndrome and 9 patients with Noonan's syndrome are described. Of the 9 patients with Turner's syndrome, 4 had coarctation of the aorta, 4 aortic stenosis, and the remaining patient both these lesions. All patients with Noonan's syndrome had pulmonary valve stenosis. In addition, 2 children had an atrial septal defect and 1 an atrial septal defect associated with mild supravalvar pulmonary stenosis and anomalous drainage of the right upper pulmonary veins. In the majority of patients the electrocardiogram was different from the pattern usually seen in pulmonary valve stenosis: the QRS axis in the frontal plane was superiorly oriented in 7 out of 9 cases and in 2 patients evidence of right ventricular hypertrophy was lacking in the right praecordial leads; in 5 patients an rS complex was seen in the left praecordial leads. Gross thickening of pulmonary valve cusps was found at operation in 4 ofthe 8 patients who were operated on.Although phenotypically related, Turner's and Noonan's syndromes are associated with different and distinct cardiovascular anomalies.

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Noonan syndrome and aortic coarctation

et al. 1998

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Congenital heart defect (CHD) is present in half of the propositi with Noonan syndrome (NS). Aortic coarctation (AC) is rarely seen in NS, since only three male patients with NS and AC have been previously reported. On the other hand, AC is common in the Ull-rich-Turner syndrome, an aneuploidy disorder and not a mendelian syndrome. In order to evaluate if AC is truly rare in patients with NS, we reviewed our series of 184 propositi with NS and CHD. AC was diagnosed in 16 (8.7%) patients. There were 11 males and 5 females. All had normal chromosomes. Clinical characteristics of the patients are described. Familial occurrence was detected in one girl with NS and AC whose mother and sibs also had NS, but different form of CHDs. Thus, AC is more frequent in NS than previously reported.

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Congenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosomes (Ullrich's and related syndromes).

Abstract: The distribution of types of congenital heart disease in male andfemale subjects with the somatic features of Turner

Cited by 32 publications

References 11 publications

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

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

Noonan syndrome and aortic coarctation

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