mitral valve insufficiency/prolina

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Early cardiac involvement in an infantile Sandhoff disease case with novel mutations.

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BACKGROUND Hepatosplenomegaly is often present in infantile Sanshoff disease. However, cardiac involvement is extremely uncommon. METHODS We describe a 14-month-old female baby who exhibited mitral regurgitation and cardiomegaly at the age of 2months, dilation of the left atrium and left ventricle

A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family.

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Activating mutations of the TSH receptor (TSH-R) have been reported to result in toxic adenomas, multinodular goiters, sporadic neonatal hyperthyroidism, and familial autosomal dominant nonautoimmune hyperthyroidism. To date, all descriptions of such mutations, whether somatic or genomic, have been

[Mitral valve papillary fibroelastoma; report of a case].

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A 65-year-old woman was admitted to our hospital with a diagnosis of cerebral infarction. She had incomplete paralysis of the right upper extremity. The echocardiogram showed a soft, mobile mass on the atrial side of the mitral posterior leaflet. Surgical treatment was performed 3 weeks after the

Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome.

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The present report aimed to evaluate the results of screen mutations of the fibrillin (FBN) 1 gene and analyze the symptoms in one Chinese patient clinically diagnosed with Marfan syndrome (MFS). Clinical data were collected and FBN1 gene sequencing was performed. Genomic DNA was extracted from the

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