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

Background: 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical phenotype variability. This study aimed to investigate the clinical features, immune profiles, and cognitive abilities of 22q11.2DS patients receiving treatment at MacKay Memorial Hospital in Taipei, Taiwan. Methods: This is a cross-sectional analysis between January 2001 and December 2022. We recruited 27 patients with 22q11.2DS using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). Our evaluation included patient history, physical examination, laboratory analysis, and cardiac and cognitive assessment. Results: We included 27 patients with 22q11.2DS, 7 (25.9%) of whom were female. The median age of the patients was 17.9 yr. Ninety-three percent of the patients exhibited the characteristic facial features associated with the syndrome. A family history of 22q11.2DS was found in 11.1% of the patients. Furthermore, 74.1% of the patients had a congenital heart defect, the most common of which was tetralogy of Fallot (40.7%). Hypocalcemia was observed in 40.7% of the patients. A low T-cell count was observed in 66.7% of the patients, whereas 18.5% had low immunoglobulin levels. Cognitive assessments revealed that four out of six evaluated patients (66.7%) had an intellectual disability, as evidenced by intellectual quotient scores less than 70. The remaining two patients (33.3%) had a borderline intellectual function. Conclusion: Tetralogy of Fallot, hypocalcemia, immunologic defects, and cognitive impairment were common among our patients. To address the potential multisystem involvement, we recommend that all affected individuals undergo a comprehensive evaluation by a multidisciplinary care team.

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. The echocardiographic-based ductal size and indexed PDA size were 1.93 mm (1.15-6 mm) and 4.05 mm/m2 (2.03-25.47 mm/m2), respectively. The pulmonary artery pressure measured was 20.83 mmHg (8-45 mmHg). We found a positive correlation between indexed PDA size and mean pulmonary arterial pressure (mPAP) (Pearson correlation coefficient = 0.47, p < 0.001). A subgroup analysis showed that 28 patients (53.8%) developed pulmonary hypertension (PH) (defined as mPAP > 20 mmHg). The median age of the PH group was 1.02 years [range: 0.19-8.64], which was significantly younger than the non-PH group's median age of 3.43 years [range: 0.42-19.96] (p = 0.001). The indexed PDA size for the PH group, 4.69 mm/m2, was significantly higher than that of the non-PH group, 3.2 mm/m2 (p = 0.004). The major risk factor for patients with PH was the PDA/BSA index, with an OR of 2.181 (95% CI, 1.224-3.887). Our demographic data showed younger patients with a higher PDA/BSA index are more likely to develop pulmonary hypertension.

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. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers spontaneously similar to branch pulmonary stenosis (PS). Recently, conventional beliefs, such as SVAS improving rather than worsening in WS, have been challenged. This study thoroughly reviews the medical records of 30 patients with a molecular diagnosis of WS. We followed up these patients at Taipei MacKay Memorial Hospital from January 1999 to December 2021. The long-term outcomes of cardiovascular lesions as well as the change in peak pressure gradient in obstructive cardiovascular lesions over time were studied. Among these 30 patients, the most common cardiovascular lesion was SVAS (50.0%), followed by branch PS (36.7%). During the follow-up period, severe SVAS was aggravated (p = 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (p = 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed.

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. OBJECTIVES: To construct QT interval reference values during early infancy, to investigate whether QT interval change differs according to age calculation methods, and to identify an optimal QT correction method and associated infant factors. METHODS: Electrocardiographic readings and QT intervals were recorded cross-sectionally in 595 healthy infants and screened prospectively for long QT interval. Corrected QT intervals with Bazett's (QTc-B) and Fridericia's (QTc-F) formulas were compared by post-natal and post-menstrual screening age, sex, body mass index (BMI), heart rate (HR), birth and family history. RESULTS: QTc-B and QTc-F decreased in the second month (31-60 days), and peaked in the third month (61-90 days). QT interval length was similar between post-menstrual and post-natal ages for QTc-B. Simple linear regression showed that post-menstrual age, post-natal age, HR and BMI were associated with QTc-F, while only sex and HR were associated with QTc-B. Although both QTc-B and QTc-F were significantly associated with HR, QTc-B was less affected by HR than QTc-F (ß = -0.1, p < 0.05 for QTc-B vs. ß = -0.3, p < 0.001 for QTc-F). Female infants tended to have slightly longer QTc intervals. CONCLUSIONS: QT interval in early infancy changed physiologically, peaking in the third month. The rate of QT change was not affected by different age correction methods. QTc-B was less affected by age, BMI and HR, although differences in sex should be noted.

Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II.

BACKGROUND: Cardiac abnormalities have been observed in patients with mucopolysaccharidosis type II (MPS II). The aim of this study was to investigate the cardiac features and natural progression of Taiwanese patients with MPS II, and evaluate the impact of enzyme replacement therapy (ERT) on cardiac structure and function. METHODS: The medical records and echocardiograms of 48 Taiwanese patients with MPS II (median age, 6.9 years; age range, 0.1-27.9 years) were reviewed. The relationships between age and each echocardiographic parameter were analyzed. RESULTS: The mean z-scores of left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter were 1.10, 2.70, 0.95 and 1.91, respectively. Z scores > 2 were identified in 33%, 54%, 13%, and 46% for LVMI, IVSd, LVPWd, and aortic diameter, respectively. The most prevalent cardiac valve abnormality was mitral regurgitation (MR) (56%), followed by aortic regurgitation (AR) (33%). The severity of mitral stenosis (MS), MR, aortic stenosis (AS), AR, and the existence of valvular heart disease were all positively correlated with increasing age (p < 0.01). We also compared the echocardiographic parameters between two groups: (1) 12 patients who had up to 17 years of follow-up echocardiographic data without ERT, and (2) nine patients who had up to 12 years of follow-up data with ERT. The results showed that z-score changes of LVMI significantly improved in the patients who received ERT compared to those who did not receive ERT (0.05 versus 1.52, p < 0.05). However, the severity score changes of MS, MR, AS, and AR all showed gradual progression in both groups (p > 0.05). CONCLUSIONS: High prevalence rates of valvular heart disease and cardiac hypertrophy were observed in the MPS II patients in this study. The existence and severity of cardiac hypertrophy and valvular heart disease in these patients worsened with increasing age, reinforcing the concept of the progressive nature of this disease. ERT for MPS II appeared to be effective in stabilizing or reducing the progression of cardiac hypertrophy, but it only had a limited effect on valvulopathy.

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, 0.1 to 19.1 years; 11 with MPS I, 49 with MPS II, 25 with MPS III, 29 with MPS IVA, and 11 with MPS VI). The aortic root diameter was measured at the sinus of Valsalva. RESULTS: Aortic root dilatation (z score >2) was observed in 47% of the MPS patients, including 66% of MPS IV, 51% of MPS II, 45% of MPS VI, 28% of MPS III, and 27% of MPS I patients. The mean aortic root diameter z score was 2.14 (n = 125). The patients with MPS IV had the most severe aortic root dilatation with a mean aortic root diameter z score of 3.03, followed by MPS II (2.12), MPS VI (2.06), MPS III (1.68), and MPS I (1.03). The aortic root diameter z score was positively correlated with increasing age (n = 125, p < 0.01). For the patients with MPS II, III, and IV, aortic root diameter z score was also positively correlated with increasing age (p < 0.01). For 16 patients who had received ERT and had follow-up echocardiographic data (range 2.0-16.2 years), the mean aortic root diameter z score change was -0.46 compared to baseline (baseline 2.49 versus follow-up 2.03, p = 0.490). CONCLUSIONS: Aortic root dilatation was common in the patients with all types of MPS, with the most severe aortic root dilatation observed in those with MPS IV. The severity of aortic root dilatation worsened with increasing age, reinforcing the concept of the progressive nature of this disease. ERT for MPS appears to stabilize the progression of aortic root dilatation.

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. Nine pediatric cardiology centers with 99 patients were included. Using this database, we evaluated clinical characteristics and outcomes. RESULTS: Twelve patients with incomplete data were excluded. For the remaining 87 patients, mean age of enrollment was 37.4(SD 18.2) years, and the male to female ratio was 60:27. PAH after defect closure accounted for 46 (52.9%) and Eisenmenger syndrome for 30 (34.5%) cases. Atrial septal defect was the most common (48.3%) disease, followed by ventricular septal defect. Mean pulmonary artery pressure was 56.7 (SD 19.4) mmHg. PAH-targeted therapy was used in 95.4% of patients. Sildenafil and bosentan were the most common drugs. After mean 23.9 months of follow-up, the 2-year Kaplan-Meier survival rate was 93.2%. According to univariate Cox regression analysis, significant risk factors included right heart failure signs, symptom progression, high-risk baseline N-terminal pro-brain natriuretic peptide (BNP)/BNP, high-risk baseline 6-min walking distance (6MWD), and high baseline hemoglobin/hematocrit level. Using the three noninvasive parameters (functional class, 6MWD, NT-pro BNP/BNP) proposed by the European Society of Cardiology, the total number of high-risk criteria predicted survival rate reliably. CONCLUSIONS: Using the TACHYON registry is feasible, but the physicians' adherences to guidelines are unsatisfactory. Midterm outcomes of PAH-target therapy are favorable and predictable using noninvasive parameters.

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. Standard two-dimensional echocardiography was performed to obtain measurements of the cardiac chambers and great arteries of the developing fetuses. In contrast to past studies, our sample was more evenly distributed for estimated gestational age (p<0.001). We present percentile graphs for 13 fetal echocardiographic measurements from the knowledge of estimated gestational age, biparietal distance, head circumference, abdominal circumference, and femur length. Most cardiac structures and developmental markers had linear models as the best-fitting, except for transverse aortic isthmus by estimated gestational age and transverse ductus arteriosus by femur length. Our findings indicate that estimated gestational age was generally the best model for fetal heart development, while head circumferences could be used as an optimal developmental marker to predict left atrium, right atrium, right ventricle, pulmonary annulus, and ductus arteriosus. Lastly, we developed nomograms for each of the 13 fetal heart measurements by each developmental markers. This is the first study providing echocardiographic reference ranges and nomograms for Asian fetuses. Computing z-scores from nomograms helps in standardizing comparisons and adds additional prognostic information to the diagnosis of congenital heart disease.

Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses.

BACKGROUND: Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and stenosis, valvular thickening, and hypertrophic cardiomyopathy. METHODS: Cardiac features of 53 Taiwanese patients with MPS (31 men and 22 women; age range 1.1-34.9 years; seven with MPS I, 16 with MPS II, nine with MPS III, 14 with MPS IVA, and seven with MPS VI) were evaluated using two-dimensional speckle-tracking echocardiography and conventional echocardiography. RESULTS: The mean z scores of the global longitudinal strain (GLS), left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of the 53 patients with MPS were 1.71, 0.35, 1.66, 1.03, and 3.15, respectively. Furthermore, z scores >2 were identified in 45%, 13%, 40%, 13%, and 70% of the GLS, LVMI, IVSd, LVPWd, and aortic diameter, respectively. The most severe GLS was observed in those with MPS VI, followed by in those with MPS II and MPS I. The GLS z score was positively correlated with the LVMI z score (p < 0.01). Moreover, diastolic dysfunction (reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)) was identified in 12 patients (23%). Ejection and shortening fractions were abnormal in four (8%) and seven (13%) patients, respectively. Mitral regurgitation (MR) (92%) was the most common valvular heart disease, followed by aortic regurgitation (AR) (57%), mitral stenosis (MS) (21%), and aortic stenosis (AS) (15%). The z scores of the GLS and LVMI and severity scores of the MS, MR, AS, and AR were all positively correlated with increasing age (p < 0.05). Twenty patients (38%) had a left ventricular remodeling pattern. CONCLUSIONS: The most significant left ventricular myocardial deformation, hypertrophy and valvular heart disease were observed in the patients with MPS VI, II, and I, followed by those with MPS IV; in contrast, patients with MPS III had the mildest manifestations. Cardiac abnormalities in patients with MPS worsened with increasing age in accordance with the progressive nature of this disease.

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. We also evaluated the associations between PLSVC and asymptomatic congenital heart diseases. MATERIALS AND METHODS: In this retrospective study, we identified healthy neonates based on echocardiography results from 2008 to 2017. Based on the echocardiography findings, we categorized the patients into a PLSVC group and a control group (patients without PLSVC). Chi-square and logistic regression tests were used for data analysis. RESULTS: Of the 19,488 neonates assessed in this study, 56 were found to have PLSVC, and the remaining 19,432 neonates comprised the control group. The incidence of PLSVC was 0.29% in our population. In the PLSVC group, 3.6% of the patients exhibited bicuspid aortic valves, and 10.7% of the patients exhibited secundum-type atrial septal defects. Both the incidence and association of these conditions were higher in the PLSVC group than in the control group. CONCLUSIONS: Based on the echocardiography examination results, we discovered that the incidence of PLSVC in Taiwanese neonates was 0.29%. Although the neonates with PLSVC were asymptomatic and exhibited no health concerns, they were associated with higher incidence rates of bicuspid aortic valves and secundum-type atrial defects. Additional follow-up and evaluation regarding these findings may be warranted.

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, 7.4 years; age range, 1.8-26.5 years). The relationships between age and each echocardiographic parameter were analyzed. RESULTS: Echocardiographic examinations (n = 26) revealed that 10 patients (38%) had valvular heart disease. Four (15%) and eight (31%) patients had valvular stenosis or regurgitation, respectively. The most prevalent cardiac valve abnormality was mitral regurgitation (31%), followed by aortic regurgitation (19%). However, most of the cases of valvular heart disease were mild. Three (12%), five (19%) and five (19%) patients had mitral valve prolapse, a thickened interventricular septum, and asymmetric septal hypertrophy, respectively. The severity of aortic regurgitation and the existence of valvular heart disease, aortic valve abnormalities and valvular stenosis were all positively correlated with increasing age (p < 0.05). Z scores > 2 were identified in 0, 38, 8, and 27% of left ventricular mass index, interventricular septal end-diastolic dimension, left ventricular posterior wall end-diastolic dimension, and aortic diameter, respectively. Electrocardiograms in 11 patients revealed the presence of sinus arrhythmia (n = 3), sinus bradycardia (n = 2), and sinus tachycardia (n = 1). Six patients with MPS IIIB had follow-up echocardiographic data at 1.9-18.1 years to compare with the baseline data, which showed some patients had increased thickness of the interventricular septum, as well as more patients had valvular abnormalities at follow-up. CONCLUSIONS: Cardiac involvement in MPS III is less common and milder compared with other types of MPS. The existence of valvular heart disease, aortic valve abnormalities and valvular stenosis in the patients worsened with increasing age, reinforcing the concept of the progressive nature of this disease.

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, 10.8 years; age range, 1.1 to 29.1 years) as well as the echocardiographic data of six patients who received enzyme replacement therapy (ERT) for 3-6 years. RESULTS: Echocardiographic examinations (n = 32) revealed mean z scores of left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of 0.94, 2.70, 0.39, and 3.26, respectively. Z scores > 2 were identified in 25%, 50%, 29%, and 69% of the LVMI, IVSd, LVPWd, and aortic diameter values, respectively. Diastolic dysfunction [reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)] was identified in four patients (13%), however, the ejection fraction was normal (50-75%) in all of the patients. Sixteen patients (50%) had valvular heart disease and most were of mild degree. Fourteen (44%) had valvular stenosis, and 10 (31%) had regurgitation. The z scores of LVMI, IVSd, LVPWd, and aortic diameter, the severity scores of aortic stenosis and regurgitation, and the existence of a thickened interventricular septum were all positively correlated with increasing age (p < 0.05). For the 14 patients with valve thickening, the z scores of LVMI, IVSd and aortic diameter were all larger than those of the 18 patients without valve thickening (p < 0.05). For two patients who started ERT at a younger age (1.4 and 2.8 years, respectively), the z scores for LVMI, IVSd, and LVPWd all decreased after ERT. CONCLUSIONS: A large proportion of the patients with MPS IVA had valvular heart disease and cardiac hypertrophy. Cardiac abnormalities worsened with increasing age in accordance with the progressive nature of this disease. ERT appeared to be effective in stabilizing or reducing cardiac hypertrophy, and better results may have been associated with starting ERT at a younger age.

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. Genetic analysis in this patient revealed a mutation in exon 25 of the FBN1 gene, which typically results in a shorter life expectancy. However, the patient's heart failure was controlled by losartan, propranolol and other anti-congestive medications, which may have prolonged his survival.

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. Totally, 48 cases who had received echocardiography, computed tomography and other examinations including cardiac catheterization were enrolled. There were 33 boys and 15 girls, and the median age of diagnosis was 4 months (0-44 months). The image findings of associated CV anomalies were reviewed and analyzed, along with the clinical manifestations and patients' outcome. RESULTS: There were 14 generalized hypoplasia (29.2%), 10 funnel type (20.8%), 15 segmental type (31.3%), and 9 isolated bronchial stenosis cases (18.7%). Among 48 cases of CTBS, 32 patients (66.7%) had various CV anomalies including atrial septal defect (n=9), pulmonary artery sling (n=7), ventricular septal defect (n=7), patent ductus arteriosus (n=6), tetralogy of Fallot (n=3), peripheral pulmonary stenosis (n=3), etc. No significant difference existed in the incidence and types of comorbid CV anomalies among 4 types of CTBS, except that funnel type had significantly higher comorbidity of pulmonary artery sling (50%, p<0.01). CONCLUSION: Patients with CTBS had high incidence of various associated CV anomalies. Isolated bronchial stenosis had similar high comorbidity of CV anomalies as did the 3 classical categories of congenital tracheal stenosis. The higher comorbidity of pulmonary artery sling in patients with funnel CTBS might be related to its gradual caudal narrowing of the trachea.

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. RESULTS: At start of ERT, z scores>2 were identified in 46% and 75% for left ventricular mass index (LVMI) and interventricular septum thickness in diastole (IVSd) in these patients, respectively. Twenty-four patients (86%) had valvular heart disease. After ERT, the mean IVSd z score of all patients decreased significantly from 3.87 to 2.57 (p=0.016). For 11 patients starting ERT before 12years of age, z scores for both LVMI and IVSd decreased significantly (p<0.01) after ERT. However, the condition of valve regurgitation or stenosis did not show improvement despite ERT. CONCLUSIONS: ERT was shown to be an effective therapy for reducing cardiac hypertrophy, with best results seen when ERT was started at an early age. ERT, however, had little impact on valvular heart disease.

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. Data on cardiac measurements and functions were obtained from previously performed echocardiograms and electrocardiograms. Cardiac parameters were analyzed according to MPS types and patients' age. RESULTS: The most frequent MPS type was type II (43%). Overall, heart conditions such as thick interventricular septum (55%), asymmetric septal hypertrophy (42%) and mitral valve prolapse (33%) were common, while cardiac enlargement was infrequently seen. Valvular stenosis/regurgitation and cardiac hypertrophy were more common in patients with MPS I, II, and VI when compared with other MPS types. Cardiovascular abnormalities including valvular deformation and thickening, thick interventricular septum and diastolic dysfunction were found to progress with age. CONCLUSIONS: The anatomical changes of cardiovascular systems were common in all types of MPS patients, especially in MPS I, II, and VI. Echocardiography and electrocardiography can provide us good tools for early detection and long-term follow-up for these patients.