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Published on: November 18, 2018
Cardiac features of Noonan syndrome in Japanese patients
Yasuhiro Ichikawa1, Hiroyuki Kuroda1, Takeshi Ikegawa1
1Department of Cardiology, Kanagawa Children's Medical Center, Yokohama, Japan.
Insights
Genetic mutations in Noonan syndrome impact cardiovascular disease. Genotype information can guide prognosis and personalized follow-up for patients with Noonan syndrome, improving cardiovascular care.
Area of Science:
- Genetics
- Cardiology
- Pediatrics
Background:
- Cardiovascular disease is a major concern in Noonan syndrome long-term follow-up.
- Understanding cardiovascular manifestations and prognosis is crucial for patient management.
Purpose of the Study:
- To examine cardiovascular issues and clinical manifestations in Noonan syndrome.
- To correlate genetic mutations with cardiovascular disease and prognosis.
Main Methods:
- Single-center study of clinically and genetically diagnosed Noonan syndrome patients.
- Analysis of 43 patients, focusing on genetic mutations and cardiovascular abnormalities.
Main Results:
- 67.4% of patients had structural cardiovascular abnormalities.
- PTPN11, SOS1, and RIT1 were the most common mutation sites.
- Pulmonary valve stenosis was frequent, especially in PTPN11, SOS1, and RIT1 mutations. RIT1 mutations were associated with higher intervention rates for cardiovascular disease.
Conclusions:
- Genetic information aids in predicting cardiovascular disease prognosis in Noonan syndrome.
- Genotype-based follow-up strategies are recommended for Noonan syndrome patients.
Background:
Cardiovascular disease is one of the most important problems in long-term follow-up for Noonan syndrome. We examined cardiovascular issues and clinical manifestations, with a focus on the cardiovascular disease and prognosis of patients with Noonan syndrome.
Methods:
This single-centre study evaluated patients who were clinically and genetically diagnosed with Noonan syndrome.
Results:
Forty-three patients diagnosed with Noonan syndrome were analysed. The most prevalent responsible mutation was found in PTPN11 (25/43). The second and third most prevalent causative genes were SOS1 (6/43) and RIT1 (5/43), respectively, and 67.4% of genetically diagnosed patients with Noonan syndrome had structural cardiovascular abnormalities. Pulmonary valve stenosis was prevalent in patients with mutations in PTPN11 (8/25), SOS1 (4/6), and RIT1 (4/5). Hypertrophic cardiomyopathy was found in two of three patients with mutations in RAF1. There was no difference in the cardiovascular events or cardiovascular disease prevalence in patients with or without PTPN11 mutations. The proportion of RIT1 mutation-positive patients who underwent intervention due to cardiovascular disease was significantly higher than that of patients with PTPN11 mutations. Patients who underwent any intervention for pulmonary valve stenosis exhibited significantly higher pulmonary flow velocity than patients who did not undergo intervention, when they visited our hospital for the first time. All patients who underwent intervention for pulmonary valve stenosis had a pulmonary flow velocity of more than 3.0 m/s at first visit.
Conclusions:
These findings suggest that genetic information can provide a clinical prognosis for cardiovascular disease and may be part of genotype-based follow-up in Noonan syndrome.
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