摘要
A male infant with clinical features of Noonan syndrome and rapidly progressiv e hypertrophic cardiomyopathy is reported. He manifested severe heart failure an d failure to thrive. Administration of propranolol and cibenzoline improved vent ricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene. Conclusio n:This is the first description of a patient with a Gln510Glu mutation in the pr otein-tyrosine phosphatase, non-receptor type 11 gene. This specific mutation may be associated with a rapidly progressive hypertrophic cardiomyopathy.
A male infant with clinical features of Noonan syndrome and rapidly progressiv e hypertrophic cardiomyopathy is reported. He manifested severe heart failure an d failure to thrive. Administration of propranolol and cibenzoline improved vent ricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene. Conclusio n:This is the first description of a patient with a Gln510Glu mutation in the pr otein-tyrosine phosphatase, non-receptor type 11 gene. This specific mutation may be associated with a rapidly progressive hypertrophic cardiomyopathy.
