A Novel Method of Placing Right Ventricular Leads in Patients With Persistent Left Superior Vena Cava Using a Conventional J Stylet

Background

Locating pacemaker electrodes can become complicated by congenital abnormalities such as persistent left superior vena cava (LSVC).

Objective

To evaluate a technique for the implanting of ventricular electrode in patients with persistent LSVC.

Materials and Methods

The study was carried out from June 2001 to June 2010 involving all patients who were admitted to the Hospital Universitario Mayor, Instituto de Corazon de Bogota and Hospital Universitario Clinica San Rafael (Bogota-Colombia) for implanting pacemakers or cardiac defibrillators. LSVC was diagnosed by fluoroscopic observation (anterior-posterior view) of the course of the stylet. Four steps were followed: 1) Move the electrode with a straight stylet to the right atrium. 2) Change the straight stylet by a conventional J stylet and push the electrode to the lateral or anterolateral wall of the right atrium. 3) Remove the guide 3-5 cm and 4) Push the electrode which crosses the tricuspid valve into the right ventricle and finally deploy the active fixation mechanism.

Results

A total of 1198 patients were admitted for pacemaker or cardiac defibrillator implant during the 9-year study period, 1114 received a left subclavian venous approach. There were 573 males and 541 females. Persistent LSVC was found in five patients (0.45%) Fluoroscopy time for implanting the ventricular electrode ranged from 60 to 250 seconds, 40 to 92 minutes being taken to complete the whole procedure.

Conclusion

We present a simple and rapid technique for electrode placement in patients with LSVC using usual J guide and active fixation electrodes with high success.     

An unusual ‘bow tie’ image in pacemaker implantation

Upper venous system anatomic variations may cause difficulties during cardiac pacemaker implantation. Persistent left superior vena cava (PLSVC) and absent right superior vena cava could be an arrhythmogenic source of atrial arrhythmias and cardiac conduction disease. We represent dual-chamber pacemaker implantation in a patient with a very rare upper venous system anomaly, paroxysmal atrial fibrillation, sick sinus syndrome, that cause unusual fluoroscopic image.     

Death-related gastric necrosis after Laparoscopic Adjustable Gastric Banding in the early post-operative period

Background

Although mediastinal tumors compressing or invading the superior vena cava represent the major causes of the superior vena cava syndrome, benign processes may also be involved in the pathogenesis of this medical emergency. One of the rarest benign causes is a pseudoaneurysm developing in patients previously having heart surgery.

Case report

We present the case of a large pseudoaneurysm of the ascending aorta, five years after primary surgery, with a significant compression of the right mediastinal venous system causing superior vena cava syndrome, detected at chest CT angiography. Perioperative findings showed two rush out points both coming from the distal aortic suture line which was performed five years ago. The patient underwent reoperation under circulatory arrest facilitating safe exploration and repair of the distal anastomotic leaks

Conclusion

Enhanced chest CT should be always undertaken in all patients with superior vena cava syndrome, especially in those previously having cardiac or aortic surgery to correctly evaluate the presence of a pseudoaneurysm. Mass effect to the superior vena cava makes necessary an open surgical treatment of the pseudoaneurysm so as to concurrently resolve the right mediastinal venous system's compression. Surgery should be performed in terms of safe approach to avoid exsanguination and cerebral malperfusion.     

Management and outcome of cardiac and endovascular cystic echinococcosis

Background

Cystic echinococcosis (CE) can affect the heart and the vena cava but few cases are reported.

Methods

A retrospective case series of 11 patients with cardiac and/or endovascular CE, followed-up over a period of 15 years (1995–2009) is reported.

Results

Main clinical manifestations included thoracic pain or dyspnea, although 2 patients were asymptomatic. Cysts were located mostly in the right atrium and inferior vena cava. Nine patients were previously diagnosed with disseminated CE. Echocardiography was the diagnostic method of choice, although serology, electrocardiogram, chest X-ray, computed tomography/magnetic resonance imaging and histology aided with diagnosis and follow-up. Nine patients underwent cardiac surgery and nine received long-term antiparasitic treatment for a median duration of 25 months (range 4–93 months). One patient died intra-operatively due to cyst rupture and endovascular dissemination. Two patients died 10 and 14 years after diagnosis, due to pulmonary embolism (PE) and cardiac failure, respectively. One patient was lost to follow-up. Patients who had cardiac involvement exclusively did not have complications after surgery and were considered cured. There was only one recurrence requiring a second operation. Patients with vena cava involvement developed PEs and presented multiple complications.

Conclusions

Cardiovascular CE is associated with a high risk of potentially lethal complications. Clinical manifestations and complications vary according to cyst location. Isolated cardiac CE may be cured after surgery, while endovascular extracardiac involvement is associated with severe chronic complications. CE should be included in the differential diagnosis of cardiovascular disease in patients from endemic areas.     

Visualisation of coronary venous anatomy by computed tomography angiography prior to cardiac resynchronisation therapy implantation

Background

The purpose of this study was to illustrate the additive value of computed tomography angiography (CTA) for visualisation of the coronary venous anatomy prior to cardiac resynchronisation therapy (CRT) implantation.

Methods

Eighteen patients planned for CRT implantation were prospectively included. A specific CTA protocol designed for visualisation of the coronary veins was carried out on a third-generation dual-source CT platform. Coronary veins were semi-automatically segmented to construct a 3D model. CTA-derived coronary venous anatomy was compared with intra-procedural fluoroscopic angiography (FA) in right and left anterior oblique views.

Results

Coronary venous CTA was successfully performed in all 18 patients. CRT implantation and FA were performed in 15 patients. A total of 62 veins were visualised; the number of veins per patient was 3.8 (range: 2–5). Eighty-five per cent (53/62) of the veins were visualised on both CTA and FA, while 10% (6/62) were visualised on CTA only, and 5% (3/62) on FA only. Twenty-two veins were present on the lateral or inferolateral wall; of these, 95% (21/22) were visualised by CTA. A left-sided implantation was performed in 13 patients, while a right-sided implantation was performed in the remaining 2 patients because of a persistent left-sided superior vena cava with no left innominate vein on CTA.

Conclusion

Imaging of the coronary veins by CTA using a designated protocol is technically feasible and facilitates the CRT implantation approach, potentially improving the outcome.

     

A Study of Unusual Pacemaker Infection by Mycobacterium Tuberculosis in Indian Patients

Background

The expanding clinical indications of cardiac rhythm management have led to an increased use of pacemaker implantation which is associated with increased incidence of pacemaker infections. Staphylococcus aureus and epidermidis account for the vast majority of pacemaker infections. Pacemaker infection due to Mycobacterium tuberculosis (M. tuberculosis) is very rare, only few cases having been reported till date.

Methods

We describe here a study of three patients of pacemaker pocket infection with M. tuberculosis.

Conclusion

The possibility of mycobacterial pacemaker infection should always be kept in mind in patients with delayed pacemaker infection.     

Attenuation of Post-Shock Increases in Brain Natriuretic Peptide with Post Shock Overdrive Pacing

Background

Predischarge defibrillation threshold testing is often performed a few days after ICD implantation in order to validate defibrillation thresholds obtained at the time of implant. Ventricular fibrillation is induced with such testing and causes an increase in serum Brain Natriuretic Peptide (BNP) levels. BNP is an indicator for cardiac stress. We wanted to examine the feasibility to alter the trend of BNP after predischarge testing in VVI, DDD and CRT ICD''s.

Methods

We measured BNP before predischarge testing and 5, 10, 20 and 40 minutes after predischarge testing in 13 groups with each 20 patients. We evaluated patients without post shock pacing and patients with a post shock pacing frequency of 60, 70, 80, 90 and 100 bpm and a duration of 30 and 60 sec as well as a post shock pacing frequency of 80 and 90 bpm and a duration of 120 sec post shock pacing.

Results

Patients without post shock pacing showed the highest BNP during the follow-up. The percentage values of BNP increased consistent significantly after 5 minutes compared with BNP before predischarge testing. The percentage values of BNP trend was significantly lower with a post shock pacing of 90 bpm and duration of 60 sec. In addition, we excluded a cardiac necrosis by predischarge testing because of similar values of myoglobin, cardiac troponin I and creatine kinase during the follow-up.

Conclusions

Our results suggested that post shock pacing with 90 bpm and duration of 60 sec as the best optimized post shock pacing frequency and duration for VVI, DDD and CRT ICD''s. A reduction of cardiac stress is going to be achieved with the optimization of the post shock pacing frequency and duration.     

Effect of induced ventricular fibrillation and shock delivery on brain natriuretic peptide measured serially following a predischarge ICD test

Objectives

Brain natriuretic peptide (BNP) was a marker for heart failure and cardiac wall tension. We analysed the trend of BNP after predischarge testing in order to get non-invasive details about the cardiac stress during predischarge testing.

Methods

4-5 days after ICD implant we measured BNP, myoglobin, cardiac troponin I and creatine kinase in 20 patients before and 1, 5, 10, 20, 40, 60, 80, 100, 120 minutes and at the next day after predischarge testing. We evaluated actual values and percentage alterations of BNP.

Results

BNP significantly increased with a maximum after 5 minutes (804.0 ± 803.4 vs. 475.7 ± 629.5 pg/ml, P < 0.0001) and in terms of the percentage values (100 vs. 199.4 ± 61.4 %, P < 0.0001) compared with baseline BNP. BNP decreased after that with the last significantly increased BNP value after 20 minutes (540.2 ± 604.9 vs. 475.7 ± 629.5 pg/ml, P = 0.017). We excluded a cardiac necrosis during predischarge testing because of similar values of myoglobin, cardiac troponin I and creatine kinase during the 2-hour follow-up.

Conclusion

Our data showed a great increase with a doubling of BNP after 5 minutes as a result of induced ventricular fibrillation during predischarge test. This increase was not generated by myocardial necrosis but rather caused by an acute cardiac failure as a consequence of induced ventricular fibrillation in predischarge testing.     

Non-ischemic cardiomyopathy patients derive superior mortality benefit from cardiac resynchronization therapy

Background

Cardiac Resynchronization Therapy (CRT) is indicated for the treatment of advanced heart failure with severe systolic dysfunction and intraventricular conduction delay. Patient selection for this technology is vital, though it remains unclear which patients benefit most from CRT. We tested the hypothesis that patients with non-ischemic cardiomyopathy have a superior mortality benefit from CRT than ischemic cardiomyopathy patients.

Methods

We evaluated 95 CRT patients to determine which factors predict mortality.

Results

Patients with non-ischemic cardiomyopathy had a significantly better prognosis than patients with ischemic cardiomyopathy.

Conclusion

Larger prospective studies can substantiate this finding and better delineate which patients benefit most from CRT.     

Initial Imaging Analysis of Budd-Chiari Syndrome in Henan Province of China: Most Cases Have Combined Inferior Vena Cava and Hepatic Veins Involvement

Aim

To evaluate the type of venous involvement in Chinese Budd-Chiari syndrome (BCS) patients and the relative diagnostic accuracy of the different imaging modalities.

Methods

Using digital subtraction angiography (DSA) as a reference standard, color Doppler ultrasound (CDUS), computed tomography angiography (CTA), and magnetic resonance angiography (MRA) were performed on 338 patients with BCS. We analyzed the course of the main and any accessory hepatic veins (HVs) and the inferior vena cava (IVC) to assess the etiology of obstructed segments and diagnostic accuracy of CDUS, CTA and MRA.

Results

Among the 338 cases, there were 8 cases (2.4%) of isolated IVC membranous obstruction, 45 cases (13.3%) of isolated HV occlusion, and 285 cases (84.3%) with both IVC membranous obstruction and HV occlusion. Comparing with DSA, CDUS, CTA had a diagnostic accuracy of 89.3% and 80.2% in detecting BCS, and 83.4% of cases correctly correlated by MRA.

Conclusion

In Henan Province, most patients with BCS have complex lesions combining IVC and HV involvement. The combination of CDUS and CTA or MRI is useful for diagnosis of BCS and guiding therapy.     

Effect of intraoperative local application of 3% hydrogen peroxide on pocket infections following cardiac implantable electronic device implantation: An observational study

Aims

The aim of this study was to analyze whether local application of 3% hydrogen peroxide (H2O2) additionally to standard antibiotic prophylaxis following implantation of cardiac implantable electronic devices (CIED) reduces the incidence of pocket infections (PI).

Successful ablation of a left-sided accessory pathway in a patient with coronary sinus atresia and arteriovenous fistula: clinical and developmental insights

Background and objectives

While radiofrequency ablation catheter ablation of accessory pathways is generally safe and effective, anatomic variants can cause considerable challenges in effecting cure. Our objective was to use an unusual case where coronary sinus was absent and arterial venous fistula was present and a left-sided pathway required mapping and ablation to develop a framework to approach difficult cases.

Method

A detailed literature search and review of contemporary cardiac embryology was undertaken to attempt and to explain a common developmental anomaly. Adjunctive approaches during the ablation procedure, including intracardiac ultrasound, were used to guide mapping and ablation despite the lack of coronary sinus access.

Results

The accessory pathway was successfully ablated using a transseptal approach and intracardiac ultrasound guided mapping of the mitral annulus. A potential common mechanism to explain the apparently disparate anatomic variants in this patient was formulated.

Conclusions

Cardiac conduction development is complex and accessory pathway conduction may occur in the setting of arteriovenous anomalies thus providing insights as to the cause of WPW syndrome. Successful mapping and targeted ablation of left-sided pathways may be accomplished even when coronary sinus access is not possible.     

Predictors of mortality amongst recipients of implantable cardioverter defibrillators for secondary prevention of cardiac arrest

Background

Implantable Cardioverter-defibrillators (ICD) reduce mortality in survivors of cardiac arrest (CA). We investigated the predictors of mortality after ICD implantation in survivors of CA.

Methods

Retrospective review of clinical records and social security death index of all patients who received an ICD in a preexisting database of survivors of CA at the University of Pittsburgh Medical Center was performed. Multivariate analyses using the Cox proportional hazard model were performed with backward elimination to identify independent predictors of the time to death, and Kaplan-Meier curves were plotted.

Results

Eighty patients (64 men) with a mean age of 64.4±12.5 years were followed for 4.7±2.3 years after ICD implantation. Survival rates were 93.8%, 65% and 50% at 1, 5, and 10 years, respectively. Independent predictors of time to death were determined to include age (hazard ratio (HR) = 1.91 per 10-year increase, p = 0.003), serum creatinine ≥ 1.3 mg/dL (HR = 2.56, p = 0.004), and QRS width >120 ms (HR = 5.14, p = 0.012).

Conclusions

In this sample of ICD recipients secondary to CA, older age, elevated serum creatinine, and wider QRS duration were independent predictors of mortality. The presence of more than one risk factor in the same patient was associated with higher mortality rates. Whether interventions such as biventricular pacing can offset this increase risk of death warrants further investigation.     

Soluble Forms and Ligands of the Receptor for Advanced Glycation End-Products in Patients with Acute Respiratory Distress Syndrome: An Observational Prospective Study

Background

The main soluble form of the receptor for advanced glycation end-products (sRAGE) is elevated during acute respiratory distress syndrome (ARDS). However other RAGE isoforms and multiple ligands have been poorly reported in the clinical setting, and their respective contribution to RAGE activation during ARDS remains unclear. Our goal was therefore to describe main RAGE isoforms and ligands levels during ARDS.

Methods

30 ARDS patients and 30 mechanically ventilated controls were prospectively included in this monocenter observational study. Arterial, superior vena cava and alveolar fluid levels of sRAGE, endogenous-secretory RAGE (esRAGE), high mobility group box-1 protein (HMGB1), S100A12 and advanced glycation end-products (AGEs) were measured in duplicate ELISA on day 0, day 3 and day 6. In patients with ARDS, baseline lung morphology was assessed with computed tomography.

Results

ARDS patients had higher arterial, central venous and alveolar levels of sRAGE, HMGB1 and S100A12, but lower levels of esRAGE and AGEs, than controls. Baseline arterial sRAGE, HMGB1 and S100A12 were correlated with nonfocal ARDS (AUC 0.79, 0.65 and 0.63, respectively). Baseline arterial sRAGE, esRAGE, S100A12 and AGEs were associated with severity as assessed by PaO₂/FiO₂.

Conclusions

This is the first kinetics study of levels of RAGE main isoforms and ligands during ARDS. Elevated sRAGE, HMGB1 and S100A12, with decreased esRAGE and AGEs, were found to distinguish patients with ARDS from those without. Our findings should prompt future studies aimed at elucidating RAGE/HMGB1/S100A12 axis involvement in ARDS.

Trial Registration

clinicaltrials.gov Identifier: NCT01270295.     

Risk of death and recurrent ventricular arrhythmias in survivors of cardiac arrest concurrent with acute myocardial infarction

Aims

Cardiac arrest (CA) is an indication for defibrillator (ICD) implantation unless it occurs in the context of an acute myocardial infarction (AMI). We investigated the ventricular arrhythmia (VA)-free survival of patients resuscitated from CA in the setting of AMI.

Methods

We reviewed a database of 1600 AMI and CA survivors from which 48 patients were identified as having concurrent CA and AMI (CA+AMI group). Those patients were matched by age, gender, race, and left ventricular ejection fraction (LVEF) to 96 patients with AMI but no CA (AMI group) and 48 patients with CA but no AMI (CA group).

Results

Patients and controls were followed for 3.9±3.2 years. Patients in the 3 groups had similar baseline characteristics (age 63±14 yrs, 78% men, 98% white, 53% with CAD, LVEF 33±14%). The 5-year VA-free survival was 67%, 92%, and 80% for the CA+AMI, AMI, and CA groups, respectively, p<0.001.

Conclusion

Patients with concurrent CA and AMI are at high risk of recurrent VA, with VA-free survival rates significantly worse than those of patients with AMI but no CA, and comparable to those of patients with CA outside the context of an AMI. Accordingly, these patients should be considered for ICD implantation.     

Intrahepatic Vascular Anatomy in Rats and Mice—Variations and Surgical Implications

Introduction

The intra-hepatic vascular anatomy in rodents, its variations and corresponding supplying and draining territories in respect to the lobar structure of the liver have not been described. We performed a detailed anatomical imaging study in rats and mice to allow for further refinement of experimental surgical approaches.

Methods

LEWIS-Rats and C57Bl/6N-Mice were subjected to ex-vivo imaging using μCT. The image data were used for semi-automated segmentation to extract the hepatic vascular tree as prerequisite for 3D visualization. The underlying vascular anatomy was reconstructed, analysed and used for determining hepatic vascular territories.

Results

The four major liver lobes have their own lobar portal supply and hepatic drainage territories. In contrast, the paracaval liver is supplied by various small branches from right and caudate portal veins and drains directly into the vena cava. Variations in hepatic vascular anatomy were observed in terms of branching pattern and distance of branches to each other. The portal vein anatomy is more variable than the hepatic vein anatomy. Surgically relevant variations were primarily observed in portal venous supply.

Conclusions

For the first time the key variations of intrahepatic vascular anatomy in mice and rats and their surgical implications were described. We showed that lobar borders of the liver do not always match vascular territorial borders. These findings are of importance for the design of new surgical procedures and for understanding eventual complications following hepatic surgery.     

Intracardiac atrial signal amplitude in congenital and acquired complete heart block

Background

Good and reliable atrial sensing is a fundamental part of atrioventricular (AV) synchrony in dual chamber pacemakers. Due to the floating nature of atrial sensing electrode in single pass dual chamber pacemakers (VDD) compared with two-lead dual chamber pacemakers (DDD), they are more prone to atrial under-sensing and the resulting loss of AV synchrony. We hypothesized that there is a relation between the chronicity of AV block and the amplitude of intracardiac atrial signal amplitudes (IASA).

Methods

Detailed demographic, electrocardiographic and echocardiographic data were recorded in 34 consecutive patients with congenital and acquired complete heart block (CHB). The intracardiac atrial signal amplitudes (IASA) were recorded at implantation time, 48 hours and 2 months post-implantation and compared between the two groups of patients.

Results

The mean age of the study group was 38.73±12.53 years (congenital: 30.08±11.07, acquired: 47.38±6.5). There were no important differences in left atrial or ventricular sizes and in P-wave amplitude in lead II, but the IASA was significantly higher in the congenital group at implantation time (5.21±1.86 vs. 3.38±0.84 mV, P<0.001) and during the follow-up.

Conclusion

The intracardiac atrial signal amplitudes were higher in congenital CHB compared with the acquired CHB. Chronicity (and may be the congenital type) of CHB may be an affecting factor in case selection for VDD pacemaker implantation.     

Non-Invasive Bedside Assessment of Central Venous Pressure: Scanning into the Future

Background

Noninvasive evaluation of central venous pressure (CVP) can be achieved by assessing the Jugular Venous Pressure (JVP), Peripheral Venous Collapse (PVC), and ultrasound visualization of the inferior vena cava. The relative accuracy of these techniques compared to one another and their application by trainees of varying experience remains uncertain. We compare the application and utility of the JVP, PVC, and handheld Mini Echo amongst trainees of varying experience including a medical student, internal medicine resident, and cardiology fellow. We also introduce and validate a new physical exam technique to assess central venous pressures, the Anthem sign.

Methods

Patients presenting for their regularly scheduled echocardiograms at the hospital echo department had clinical evaluations of their CVP using these non-invasive bedside techniques. The examiners were blinded to the echo results, each other''s assessments, and patient history; their CVP estimates were compared to the gold standard level 3 echo-cardiographer''s estimates at the completion of the study.

Results

325 patients combined were examined (mean age 65, s.d. 16 years). When compared to the gold standard of central venous pressure by a level 3 echocardiographer, the JVP was the most sensitive at 86%, improving with clinical experience (p<0.01). The classic PVC technique and Anthem sign had better specificity compared to the JVP. Mini Echo estimates were comparable to physical exam assessments.

Conclusions

JVP evaluation is the most sensitive physical examination technique in CVP assessments. The PVC techniques along with the newly described Anthem sign may be of value for the early learner who still has not mastered the art of JVP assessment and in obese patients in whom JVP evaluation is problematic. Mini Echo estimates of CVPs are comparable to physical examination by trained clinicians and require less instruction. The use of Mini Echo in medical training should be further evaluated and encouraged.     

Utilization of Electrocardiographic P-wave Duration for AV Interval Optimization in Dual-Chamber Pacemakers

Background

Empiric programming of the atrio-ventricular (AV) delay is commonly performed during pacemaker implantation. Transmitral flow assessment by Doppler echocardiography can be used to find the optimal AV delay by Ritter''s method, but this cannot easily be performed during pacemaker implantation. We sought to determine a non-invasive surrogate for this assessment. Since electrocardiographic P-wave duration estimates atrial activation time, we hypothesized this measurement may provide a more appropriate basis for programming AV intervals.

Methods

A total of 19 patients were examined at the time of dual chamber pacemaker implantation, 13 (68%) being male with a mean age of 77. Each patient had the optimal AV interval determined by Ritter''s method. The P-wave duration was measured independently on electrocardiograms using MUSE® Cardiology Information System (version 7.1.1). The relationship between P-wave duration and the optimal AV interval was analyzed.

Results

The P-wave duration and optimal AV delay were related by a correlation coefficient of 0.815 and a correction factor of 1.26. The mean BMI was 27. The presence of hypertension, atrial fibrillation, and valvular heart disease was 13 (68%), 3 (16%), and 2 (11%) respectively. Mean echocardiographic parameters included an ejection fraction of 58%, left atrial index of 32 ml/m², and diastolic dysfunction grade 1 (out of 4).

Conclusions

In patients with dual chamber pacemakers in AV sequentially paced mode and normal EF, electrocardiographic P-wave duration correlates to the optimal AV delay by Ritter''s method by a factor of 1.26.     

Cytogenetic and comorbidity profile of Down syndrome in Mansoura University Children's Hospital, Egypt

BACKGROUND:

Down syndrome (DS) is the most common chromosomal disorder. It has three chromosomal patterns.

AIM:

To determine the cytogenetic and comorbidity profiles of DS in the Genetic Unit of Mansoura University Children''s Hospital, Mansoura, Egypt.

MATERIALS AND METHODS:

A retrospective analysis was performed on the case records of 712 cytogenetically diagnosed cases of DS at the Genetic Unit of Mansoura University Children''s Hospital, Egypt, during a 10-year period.

RESULTS:

About 19% of the cases had one or more cardiac anomalies and about 8% were hypothyroid. Nondisjunction was the most common type of abnormality, followed by translocation and lastly mosaic: 96.1, 3.1, and 0.8%, respectively. Hypothyroidism was significantly more common in translocation and mosaic karyotypes than in the nondisjunction karyotypes. First and second birth orders were significantly higher in the translocation and mosaic groups than in the nondisjunction group. Mothers are significantly older at the index pregnancy in the nondisjunction group than in the other two groups. We compared our findings with those of previous studies.

CONCLUSION:

Knowing karyotype of DS will help in genetic counseling of the parents. Wide-scale national community-based survey with DS registry could help in estimating the size of the problem.