[Prenatal hypertrophic cardiomyopathy and neonatal noonan syndrome: an association to remember].
نویسندگان
چکیده
We present the case of a girl diagnosed with prenatal hypertrophic cardiomyopathy in week 32 of gestation. In this first pregnancy for an older woman, the fetus had a thickened nuchal fold at the 12-week screening; amniocentesis revealed a normal 46, XX karyotype and polyhydramnios. She was born at 38 weeks of gestation with no complications. She was admitted for study, and physical examination revealed dysmorphic and somewhat coarse features, macrocephaly and macrosomia, wide chest and short limbs, low-set ears, wide nasal bridge, hypertelorism, antimongoloid slanting eyes, carp mouth with a marked philtrum and high arched palate, low rear hairline, and a short, wide neck (Fig. 1); she also had a variable ejection systolic heart murmur in the first few hours of life. The electrocardiogram (Fig. 1) showed biventricular hypertrophy with repolarization changes. A chest X-ray (Fig. 1) showed moderate cardiomegaly, and an echocardio-
منابع مشابه
سندرم نونان (گزارش یک مورد)
Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...
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Objective Noonan syndrome (NS) is a common, autosomal dominant, frequently de novo condition due to mutations in RAS-MAPK pathway genes. Presentation is variable, usually in infancy or early childhood, and includes poor postnatal growth, cardiac abnormalities, dysmorphic features and lymphatic dysplasia. The classic cardiac abnormalities are pulmonary valve dysplasia and hypertrophic cardiomyop...
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A woman with Noonan syndrome had clinical and haemodynamic features of restrictive cardiomyopathy. There was no ventricular hypertrophy on echocardiography but myocardial biopsies showed myocyte hypertrophy without pathological disarray. This case illustrates the overlap of the cardiac phenotypes of Noonan syndrome, restrictive cardiomyopathy, and hypertrophic cardiomyopathy.
متن کاملNeonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.
Mutations in RAF1 are associated with Noonan syndrome and hypertrophic cardiomyopathy. We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal. The RAF1 gene encodes Raf-1 kinase, part of the Ras/mitogen-activated kinase (MAPK) signaling pathway, which has been linked t...
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A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricul...
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عنوان ژورنال:
- Revista espanola de cardiologia
دوره 64 6 شماره
صفحات -
تاریخ انتشار 2011