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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.
This single-centre study evaluated patients who were clinically and genetically diagnosed with Noonan syndrome.
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.
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.
This study investigated the incidence and risk factors of perioperative clinical seizure and epilepsy in children after operation for CHD. We included 777 consecutive children who underwent operation from January 2013 to December 2016 at Kanagawa Children’s Medical Center, Kanagawa, Japan. Perinatal, perioperative, and follow-up medical data were collected. Elastic net regression and mediation analysis were performed to investigate risk factors of perioperative clinical seizure and epilepsy. Anatomic CHD classification was performed based on the preoperative echocardiograms; cardiac surgery was evaluated using Risk Adjustment in Congenital Heart Surgery 1. Twenty-three (3.0%) and 15 (1.9%) patients experienced perioperative clinical seizure and epilepsy, respectively. Partial regression coefficient with epilepsy as the objective variable for anatomical CHD classification, Risk Adjustment in Congenital Heart Surgery 1, and the number of surgeries was 0.367, 0.014, and 0.142, respectively. The proportion of indirect effects on epilepsy via perioperative clinical seizure was 22.0, 21.0, and 33.0%, respectively. The 15 patients with epilepsy included eight cases with cerebral infarction, two cases with cerebral haemorrhage, and three cases with hypoxic-ischaemic encephalopathy; white matter integrity was not found. Anatomical complexity of CHD, high-risk cardiac surgery, and multiple cardiac surgeries were identified as potential risk factors for developing epilepsy, with a low rate of indirect involvement via perioperative clinical seizure and a high rate of direct involvement independently of perioperative clinical seizure. Unlike white matter integrity, stroke and hypoxic-ischaemic encephalopathy were identified as potential factors for developing epilepsy.
Owing to the absence of a sub-pulmonary ventricle, the central venous pressure rises in patients with Fontan circulation. During exercise, central venous pressure may rise further to increase the systemic ventricular preload and cardiac output. We performed a single-centre prospective trial of cardiopulmonary exercise test while monitoring peripheral venous pressure which strongly correlates with central venous pressure. The objective of this study was to test the hypothesis that peripheral venous pressure at peak exercise inversely correlates with exercise capacity in patients with Fontan circulation. Seventeen patients following Fontan operation performed cardiopulmonary exercise test while monitoring peripheral venous pressure. Peak oxygen uptake, heart rate reserve, peak oxygen pulse (divided by body surface area), and peripheral venous pressure at peak exercise were measured. Correlations of peripheral venous pressure at peak exercise with the peak oxygen uptake, heart rate reserve, and peak oxygen pulse were evaluated. The peripheral venous pressure at peak exercise inversely correlated with the peak oxygen uptake (R = −0.66, p < 0.01), heart rate reserve (R = −0.6, p < 0.05), and peak oxygen pulse (R = −0.48, p < 0.05). Exercise-induced peripheral venous hypertension correlates with exercise intolerance in patients with Fontan circulation. Peak oxygen uptake is a useful index for evaluating the status of congestion in the daily life of patients with Fontan circulation.
We report on a 7-month-old male with transient phrenic nerve palsy induced by diagnostic cardiac catheterisation. The phrenic nerve palsy, which is a rare complication, was due to extravascular bleeding from a branch of the internal mammary artery.
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