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LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.

Ganigara M, Prabhu A, Kumar RS - Ann Pediatr Cardiol (2011)

Bottom Line: In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM).This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu, India.

ABSTRACT
In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation.

No MeSH data available.


Related in: MedlinePlus

The dysmorphic facies with hypertelorism and low-set ears
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Figure 1: The dysmorphic facies with hypertelorism and low-set ears

Mentions: An 11-month-old African male infant presented with failure to thrive (weight 5.8 kg, below third centile) and a murmur. After an uneventful antenatal period including normal ultrasound scans, he was born at term by vaginal delivery (birth weight 2.9 kg; length 50 cm). There was no family history of congenital heart disease but his father had multiple café au lait spots. The child showed moderate hypotonia and mild motor development delay but social milestones were normal. Examination revealed dysmorphic features including hypertelorism, low-set ears, depressed nasal bridge, lax joints, rocker bottom feet, and multiple café au lait spots on the trunk [Figure 1]. Genitalia were normal. There was a grade 3/6, loud, harsh systolic ejection murmur at the left sternal border. Chest X-ray showed cardiomegaly. Electrocardiogram showed biventricular hypertrophy. Echocardiography revealed features of HCM with severe left ventricular outflow obstruction (a peak systolic gradient of 100 mmHg) [Figure 2]. Visual and auditory brainstem response testing was normal. Conventional G-banded chromosome analysis showed a normal karyotype.


LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.

Ganigara M, Prabhu A, Kumar RS - Ann Pediatr Cardiol (2011)

The dysmorphic facies with hypertelorism and low-set ears
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3104541&req=5

Figure 1: The dysmorphic facies with hypertelorism and low-set ears
Mentions: An 11-month-old African male infant presented with failure to thrive (weight 5.8 kg, below third centile) and a murmur. After an uneventful antenatal period including normal ultrasound scans, he was born at term by vaginal delivery (birth weight 2.9 kg; length 50 cm). There was no family history of congenital heart disease but his father had multiple café au lait spots. The child showed moderate hypotonia and mild motor development delay but social milestones were normal. Examination revealed dysmorphic features including hypertelorism, low-set ears, depressed nasal bridge, lax joints, rocker bottom feet, and multiple café au lait spots on the trunk [Figure 1]. Genitalia were normal. There was a grade 3/6, loud, harsh systolic ejection murmur at the left sternal border. Chest X-ray showed cardiomegaly. Electrocardiogram showed biventricular hypertrophy. Echocardiography revealed features of HCM with severe left ventricular outflow obstruction (a peak systolic gradient of 100 mmHg) [Figure 2]. Visual and auditory brainstem response testing was normal. Conventional G-banded chromosome analysis showed a normal karyotype.

Bottom Line: In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM).This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu, India.

ABSTRACT
In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation.

No MeSH data available.


Related in: MedlinePlus