Case report of pulmonary hypertension caused by filamin A mutation / 中华实用儿科临床杂志

The clinical data of a case of pulmonary arterial hypertension (PAH) caused by mutation of filamin A( FLNA) in the congenital heart disease center of Wuhan Asian Heart Hospital in September 2017 were subject to retrospective analysis.A 2-year-old girl had clinical characteristics of special face, backward growth and development, repeated pulmonary infections, repeated heart failure, congenital heart disease, and PAH.Genetic detection: FLNA mutation (exon34: c.5417-1G> A), which was a new pathogenic mutation.There were few reports of PAH caused by FLNA mutations.In this study, a new case of pulmonary hypertension caused by FLNA c. 5417-1G>A compound heterozygous shearing mutations was found, which enriched the FLNA mutation spectrum and prompted genetic detection was an important approach to detect the cause of PAH.

Clinical characteristics of 195 Chinese patients with WHO Class I pulmonary hypertension / 中华心血管病杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of WHO Class I pulmonary hypertension (PAH) in central China.</p><p><b>METHODS</b>Data was collected as a part of prospective registry of PAH through Jan. 2009 to Oct. 2013 in Wuhan Asia Heart Hospital. A total of 195 patients were recruited including 144 cases with congenital heart disease with pulmonary hypertension (CHD-PAH) and 51 cases with idiopathic pulmonary hypertension (IPAH).</p><p><b>RESULTS</b>The age of all patients ranged from 1 to 68 years (mean (27.5 ± 13.2) years), 129 cases were female (66.2%). WHO Class I PAH accounted for 91.1%, CHD-PAH 67.3%, IPAH 23.8%, and other 8.9%.WHO function class III/IV in newly diagnosed PAH accounted for 32.3%, the mean 6MWD was (397 ± 74) m. For patients with IPAH, the median time period between onset of symptoms and diagnosis by right heart catheterization was 38 months. The mean pulmonary pressure, pulmonary vascular resistance index, cardiac index of patients with IPAH and CHD-PAH were measured by the right heart catheterization and there was no difference between the two groups. Acute pulmonary vasodilator testing was negative in all patients in this cohort. Cardiac function was improved in the 121 cases who received the targeted drug treatment and 1 patient died out of these 121 patients while 5 cases died out of patients receiving conventional therapy.</p><p><b>CONCLUSION</b>In Central China, Class I pulmonary hypertension is the most predominant type of PAH, the cardiac function and hemodynamic indexes of these patients were significantly impaired at the time of first PAH diagnosis. Most of the patients accepted targeted drug treatment of pulmonary hypertension, but the drug dose used for the targeted drug treatment is not effective enough in these patients.</p>

Can PDA patient in early stage of Eisenmenger syndrome accept interventional surgery ? / 中国介入心脏病学杂志

Objective To explore whether the PDA patients in the early stage of Eisenmenger syndrome can accept interventional surgery. Methods Three patients were choose from the “National Multicenter Prospective Registration Study on Pulmonary Artery Hypertension”, Clinical assessment, as well as examinations and registrations associated with PAH, was conducted in accordance with relevant provisions of the registration study within 1 wk prior to surgery. The way of the interventional treatment were right heart catheterization and pulmonary vasodilator testing (a capsule of iloprost solution for inhalation), and measurement of the pulmonary arterial pressure, descending aortic pressure, ratio of pulmonary to systemic blood flow, ratio of pulmonary to systemic blood pressure, pulmonary capillary wedge pressure [mean≤15 mmHg(1 mmHg=0.133 kPa)], before and after testing. After clear the results of pulmonary vasodilator test all patients underwent transcatheter closure testing, if it was positive,the amplatzer was released if her family members’ approved;Conversely, the amplatzer was quickly withdrawn with negative results, and symptomatic treatment was conducted based on the patient’s clinical symptoms. Results The first cases pulmonary vasodilator test was negative, but positive in transcatheter closure testing. Satisfaction immediate effect of surgery, and the occluder was released with her family members’ approval. patients of Example 2 and Example 3 were negative in pulmonary vasodilator testing and transcatheter closure testing, can not released the occluder. Conclusions Some Patents Ductus Arteriosus (PDA) patients in early stage of Eisenmenger syndrome is feasible to accept interventional therapy , try plugging test is may be an important indicator of prognostic assessment.

Clinical analysis of percutaneous balloon pulmonary valvuloplasty in the treatment of 52 patients with pulmonary stenosis / 中国介入心脏病学杂志

Objective To investigate the safety and effectiveness of percutaneous balloon pulmonary valvuloplasty (PBPV) in the treatment of pulmonary stenosis (PS). Methods The subjects were 52 patients with PS from 2007 to 2012, including 24 male and 28 female. Their age ranged from 1 year old to 56 year old and mean age was 9.2±7.6 years old. Their body weight ranged from 10 kg to 60 kg and mean weight was 17.3±8.9 kg. All patients were assessed with electrocardiogram (ECG), chest X-ray, right heart catheterization and right ventricular angiagraphy before the procedure. Results All 52 patients received PBPV successfully. Comparing the transvalvular pressure gradient before and after the operation, it decreased from 86.3±27.6 mmHg (1 mmHg=0.133 kPa) to13.8±7.7 mmHg, and statistically difference (P<0.01). Among these patients, one patient occurred ventricular fibrillation and Aspen syndrome (hypoxie-ischemic encephalopathy), one patient occurred respiratory and cardiac arrest, 24 patients occurred transient arrhythmia, one patient had hypotension, one patient had bradycardia and one patient showed desaturation. All these symptoms resolved after appropriate treatment during the PBPV. Two patients had hematoma in the puncture point and 2 patients had reactive infundibular stenosis after PBPV. Conclusions Performing the percutaneous balloon pulmonary valvoplasty on the patients with pulmonary stenosis is safe and effective. PBPV causes less pain and can be used as the preferred treatment for pulmonary stenosis.