22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.

22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical phenotype variability.

Hemodynamic and Echocardiographic Characteristics and the Presence of Pulmonary Hypertension in Patent Ductus Arteriosus Patients who Underwent Transcatheter Closure.

We investigated the hemodynamic parameters of pediatric PDA patients and focused on the influence of PDA size on pulmonary arterial pressure and the prevalence of pulmonary hypertension. A total of 52 patients aged between 2 months and 20 years who received transcatheter closure of a PDA from January 2018 to June 2022 in our institution were retrospectively recruited. Their hemodynamic parameters collected both by echocardiography and by cardiac catheterization were analyzed to delineate the influence of PDA size on the pulmonary vascular system.

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan.

Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS.

Physiological QT Interval Changes in Early Infancy Using Post-Menstrual and Post-Natal Age Calculation for Electrocardiogram Long QT Interval Screening in Taiwan.

Background: Prolongation of the QT interval is associated with the risk of sudden infant death syndrome. QT interval differs depending on age at the time of screening. Screening protocols have yet to be established for Taiwanese patients.

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy.

Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy. Only a few studies have focused on aortic root dilatation and the long-term effects of enzyme replacement therapy (ERT) in these patients.

Methods: We reviewed echocardiograms of 125 Taiwanese MPS patients (age range, 0.

Reference ranges and Z-scores for fetal cardiac measurements from two-dimensional echocardiography in Asian population.

Currently available fetal echocardiographic reference values are derived mainly from North American and European population studies, and there is a lack of reference z-score for fetal echocardiographic measurement in Asian populations. The aim of this study was to establish normal ranges of echocardiographic measurements and z-scores in healthy Asian fetuses. A total of 575 healthy pregnant Taiwanese with an estimated gestational age from 14 to 38 weeks were enrolled voluntarily for this observational study.

Congenital heart disease with pulmonary artery hypertension in an Asian cohort-initial report from TACHYON (TAiwan congenital heart disease associated with pulmonarY arterial hypertension) registry.

Background: Prospective registry studies of congenital heart disease (CHD)-associated pulmonary artery hypertension (PAH) are rare. We established a multicenter registry of CHD-PAH: the TACHYON (TAiwan Congenital Heart disease associated with pulmonarY arterial hypertension) registry.

Methods: The prospective TACHYON registry was initiated in January 2016.

Impact of Persistent Left Superior Vena Cava Detection in a Normal Neonatal Population through Echocardiography.

Background: Persistent left superior vena cava (PLSVC) is a vascular anomaly that is usually asymptomatic and detected incidentally. The incidence of PLSVC has seldom been evaluated in normal populations. In this study, we determined the incidence of PLSVC in a normal neonatal population using transthoracic echocardiography.

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III.

Background: Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulfate. Cardiac abnormalities have been observed in patients with all types of MPS except MPS IX, however few studies have focused on cardiac alterations in patients with MPS III.

Methods: We reviewed medical records, echocardiograms, and electrocardiograms of 26 Taiwanese patients with MPS III (five with IIIA, 20 with IIIB, and one with IIIC; 14 males and 12 females; median age, 7.

Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA.

Background: Cardiac abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular heart disease and cardiac hypertrophy. However, few studies have focused on the cardiac features of MPS IVA.

Methods: We reviewed the medical records, echocardiograms, and electrocardiograms of 32 Taiwanese patients with MPS IVA (16 males and 16 females; median age, 10.

Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome.

Neonatal Marfan syndrome, in contrast to classical Marfan syndrome, is characterized by rapidly progressive multi-valvular cardiac disease and death from congestive heart failure, typically within the first year of life. Due to the rarity of this condition, treatment for neonatal Marfan syndrome has not been well studied. In this report, a combination of losartan and propranolol reduced the aortic root dilatation rate after three months of losartan therapy.

The association of congenital tracheobronchial stenosis and cardiovascular anomalies.

Objectives: Congenital tracheobronchial stenosis (CTBS) is a rare disorder characterized by the presence of focal or diffuse complete tracheal or bronchial cartilage rings resulting in a fixed lumen narrowing. The aim of this study was to expose the association of various cardiovascular (CV) anomalies with various types of CTBS.

Methods: A retrospective review of 58 patients who had bronchoscopically proven CTBS between 1997 and 2011 was conducted.

Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.

Background: While enzyme replacement therapy (ERT) has been shown to improve endurance and joint mobility for patients with mucopolysaccharidoses (MPS) I, II, IVA and VI, the impact of ERT on cardiac abnormalities remains uncertain.

Methods: Medical records and echocardiograms of 28 Taiwanese MPS patients (9 with MPS I, 7 with MPS II, 7 with MPS IVA, and 5 with MPS VI) treated with ERT for 1-10.8years were retrospectively reviewed.

Cardiovascular abnormalities in Taiwanese patients with mucopolysaccharidosis.

Background: The mucopolysaccharidoses (MPS) are a group of rare inherited metabolic diseases that can cause damages in various organs including the heart. This study aimed to review the medical records of Taiwanese patients with MPS in order to evaluate the cardiovascular involvement in those patients.

Methods: From 2000 to 2012, the medical records of 60 patients with MPS in a tertiary medical center in Taiwan were retrospectively reviewed.

Post-traumatic left ventricular aneurysm with massive hemopericardium in a child presenting 3 years after a fall.

A 7-year-old boy developed a left ventricular aneurysm with massive hemopericardium 3 years ago due to a fall from a fourth-floor window. He had mild neurological sequelae including cranial nerve III palsy and abnormal electroencephalography findings at that time. He had no chest pain until recently when he presented with chest tightness and abdominal pain for 2 days prior to admission.

Application of head-up tilt table testing in children.

Background/purpose: We investigated the application of head-up tilt table testing (HUT) and management of neurocardiogenic syncope (NCS) in children, as pediatric studies are limited.

Methods: Seventy-nine patients (ages 6-18 years) underwent HUT for evaluation of syncope. Patient triggers and premonitory symptoms allowed the clinical diagnosis of NCS or non-NCS.

Restrictive cardiomyopathy in a child.

Restrictive cardiomyopathy in young children is rare and carries a poor prognosis. We report an 18-month-old girl with poor feeding and abdominal distension. Except for hepatomegaly, no other gastrointestinal abnormalities were found.

Occlusion of an aberrant artery to an intralobar pulmonary sequestration using an Amplatzer Vascular Plug.

Pulmonary sequestration is a rare anomaly and is conventionally treated with surgical excision. This report describes the successful occlusion of a large aberrant artery to an intralobar pulmonary sequestration using an Amplatzer Vascular Plug.