Type Of Septal Defect Research Articles

Birth outcomes of cases with isolated atrial septal defect type II – a population‐based case‐control study

In general, epidemiological studies have evaluated cases with congenital cardiovascular abnormalities together. The aim of this study is to describe the birth outcomes of cases with isolated/single atrial septal defect type II (ASD-II, i.e. only a fossa ovalis defect) after surgical correction or lethal outcome in the light of maternal sociodemographic data. Comparison of birth outcomes and maternal characteristics of cases with ASD-II and controls without defect. The population-based Hungarian Case-Control Surveillance of Congenital Abnormalities. Hungarian newborn infants with or without ASD-II. Medically recorded birth outcomes, maternal age and birth order were evaluated. Marital and employment status was based on maternal information. The lifestyle factors were analyzed in a subsample of mothers visited at home based on a personal interview with mothers and their close relatives, and the family consensus was accepted. Mean gestational age at delivery and birthweight, rate of preterm birth and low birthweight, maternal age, birth order, marital and employment status. The evaluation of 471 cases with ASD-II and 38,151 controls without any defects showed a female excess in cases with ASD-II, having shorter gestational age and lower mean birthweight, and thus a higher rate of preterm births and low birthweight. Intrauterine growth restriction and shorter gestational age were found in cases with ASD-II, particularly in female children. These factors may have a general developmental process in which there was not closure of the foramen ovale, thus echocardiographic screening of these babies might be of value.

Clarifying the Surgical Morphology of Inlet Ventricular Septal Defects

Different types of ventricular septal defects (VSD) open to the inlet of the right ventricle. The atrioventricular conduction axis is markedly different within these subtypes, a feature of great surgical importance. To clarify these relationships, we have studied hearts with such VSDs from the Idriss archive at Ann and Robert H. Lurie Children's Hospital of Chicago. We selected hearts from the archive showing the different variants of inlet VSD, photographing them to show the presumed disposition of the atrioventricular conduction axis as based on previous histology studies. We differentiated between perimembranous defects, muscular defects, perimembranous defects with straddling of the tricuspid valve, and atrioventricular septal defects with shunting confined at the ventricular level. The atrioventricular conduction axis is different in the four types of inlet VSDs. In perimembranous defects opening to the inlet of the right ventricle, the axis is positioned to the right hand of the surgeon operating through the tricuspid valve, whereas it is to the left hand with the muscular inlet defect. In patients with straddling tricuspid valve, the axis arises from an anomalous posteroinferior atrioventricular node, whereas in patients with atrioventricular septal defect with exclusive ventricular shunting, the axis arises at the crux of the heart from a node located in an inferiorly displaced nodal triangle. An appreciation of these relationships should help surgeons avoid the conduction system when closing inlet VSDs.

Right ventricular load and function during exercise in patients with open and closed atrial septal defect type secundum

This study aimed at evaluating (1) right ventricular (RV) mean power during exercise, (2) the contribution of flow and pressure to RV mean power, and (3) the impact of pulmonary artery pressure on RV function during exercise. Fifty patients with atrial septal defect (ASD) type secundum (20 open, 30 closed) were enrolled. All underwent standard echocardiography, a bicycle stress echocardiography, and symptom-limited cardiopulmonary exercise testing. RV mean power was calculated as the product of RV cardiac output and mean pulmonary artery pressure (mPAP). RV function was assessed using RV fractional area change (FAC) at rest and at peak exercise. RV mean power was linearly related with oxygen uptake (VO₂) in patients with open (R (2)= 0.88; p < 0.0001) and closed ASD (R(2)= 0.90; p < 0.0001). The increase in RV mean power was steeper in open than in closed ASD patients (p < 0.0001). The change in RV cardiac output (7.1 ± 3.4 vs. 5.7 ± 2.4 l/min; p = 0.132) was not statistically different, but the change in mPAP (21.7 ± 9.6 vs. 12.8 ± 4.6 mmHg; p < 0.0001) and RV mean power (0.97 ± 0.56 vs. 0.53 ± 0.22 W; p = 0.009) were higher in patients with an open ASD. The change in RV FAC from rest to peak exercise was related to peak mPAP in open (R = -0.589; p = 0.010) and closed (R = -0.450; p = 0.021) ASD patients. RV mean power during exercise is higher in patients with an open than in patients with a closed ASD. The workload of the RV in patients with an open ASD is higher at rest due to a left-to-right shunt, at peak exercise due to an additional increase in mPAP. A higher increase in afterload may affect RV function during exercise.

Initial Design and Evaluation of a Pediatric Intra-Cardiac Camera System for Ventricular Septal Defects

The primary objective of this project is to design, fabricate, and test a small, integrated camera system for aiding in the visualization and surgical repair of certain types of ventricular septal defects (VSD), in pediatric patients. Currently, no purpose-designed commercial device to view VSDs from the left ventricle of the heart exists. The left ventricular perspective is ideal for obtaining an unobstructed view of the VSD. This VSD camera device would also provide a platform for passing a suture through the hole in the ventricular septum, with future work implementing additional tools capable of more advanced tasks. This camera device will help solve some of the major issues currently associated with cardiac imaging and surgical closure of VSDs in newborns and young children This paper examines the design development and preliminary evaluation of a proof of concept device. Included are preliminary results of image quality comparisons, design details of a pediatric-specific VSD camera device, and initial outcomes from in vitro testing.

Invited Commentary

Invited Commentary

Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle

Congenital heart defects (CHDs) occur in about 0.5-1% of all newborns and are the most common birth defects. Double outlet right ventricle (DORV) accounts for approximately 1-3% of all CHDs. Similar to Tetralogy of Fallot (TOF), DORV is a subtype of contruncal heart defects (CTDs) and is anatomically characterized by a malposition of the great arteries. We described a boy with chromosomal translocation: 46, XY t (8; 18) (q22; q21) that may disrupts the ZFPM2/FOG2 locus. The coding sequences of ZFPM2/FOG2 were determined in 38 patients with sporadic DORV, 95 patients with TOF, and 12 patients with transposition of the great arteries. Five DNA sequence variants affecting variably conserved residues of ZFPM2/FOG2 were identified in patients with TOF type or ventricular septal defect type of DORV. Three novel mutations (p.V339I, p.K737E, and p.A611T) were reported for the first time. The other two mutations (p.M703L and p.Q889E) were reported in patients with congenital diaphragmatic hernia but not in patients with CHD. Our finding suggests that variants of the ZFPM2/FOG2 gene might be a common cause of DORV.

OP01.05: Prenatal diagnosis and treatment planning of conotruncal anomalies: fetal echocardiographic features, associated anomalies and outcome

Objectives: To investigate the value of two-dimensional combined with STIC technique to localize the VSD in fetus. Methods: From June 2010 to October 2010, 378 pregnant women were included in our study. GE Voluson E8 was used. The definition of the types of VSD: perimembrane type, isolated membrane type, subseptal valve type, subcrista type, intracrist type, and muscular type. The subseptal valve type and the inlet muscular type were confirmed in four-chamber view. Membrane type, perimembrane type, outlet muscular type were confirmed in left ventricle outlet view. Results: 27 ventricular septal defects were diagnosed by two dimensional echocardiography combined with STIC. The typy and located ventricular septal defect compared with autopsy and echocardiography after birth. The coincidence 92.5%. Conclusions: The type of ventricular septal defect can be diagnosed by two dimensional and STIC echocardiography.

OP01.07: Intrauterine evolution of fetal cardiac defects diagnosed between 11 and 14 weeks of gestation

Objectives: To investigate the value of two-dimensional combined with STIC technique to localize the VSD in fetus. Methods: From June 2010 to October 2010, 378 pregnant women were included in our study. GE Voluson E8 was used. The definition of the types of VSD: perimembrane type, isolated membrane type, subseptal valve type, subcrista type, intracrist type, and muscular type. The subseptal valve type and the inlet muscular type were confirmed in four-chamber view. Membrane type, perimembrane type, outlet muscular type were confirmed in left ventricle outlet view. Results: 27 ventricular septal defects were diagnosed by two dimensional echocardiography combined with STIC. The typy and located ventricular septal defect compared with autopsy and echocardiography after birth. The coincidence 92.5%. Conclusions: The type of ventricular septal defect can be diagnosed by two dimensional and STIC echocardiography.

Cardiopulmonary Exercise Testing and SF-36 in Patients With Atrial Septal Defect Type Secundum

Although exercise capacity is impaired, atrial septal defect (ASD) patients report satisfactory exercise tolerance. This study aimed at (1) evaluating cardiopulmonary exercise testing (CPX) and (2) evaluating the impact of exercise capacity on perceived health status using a self-reported health questionnaire (SF-36) in patients with open and closed ASD. Seventeen patients (mean age 37 ± 17, 9 males) with open ASD and 24 (mean age 37 ± 14, 6 male) with closed ASD were included. All underwent CPX and completed a SF-36 questionnaire. Age- and gender-matched controls were selected for comparison of CPX variables and SF-36 was compared with results from a general population. Patients with open ASD had lower peak oxygen uptake (VO(2)) (27.9 ± 9.7 vs 38.5 ± 9.5 mL · kg(-1) · min(-1). P = .009) and higher VE/VCO(2) slope (31.0 ± 7.7 vs 24.1 ± 4.8; P = .004) than controls. Patients with closed ASD had lower peak VO(2) (26.2 ± 8.4 vs 34.8 ± 9.7 mL · kg(-1) · min(-1). P = .014) and peak heart rate (163 ± 25 vs 178 ± 16 bpm; P = .035) than controls. Perceived health-status was lower in patients with open ASD than the general population. Peak VO(2) correlated significantly with physical functioning, emotional functioning, and bodily pain in open ASD and with physical functioning, bodily pain, role limitation, vitality, and mental health in closed ASD patients. Patients with open and closed ASD had decreased peak VO(2). Patients with open ASD had lower ventilatory efficiency. Closed ASD patients had chronotropic incompetence because of β-blockers. SF-36 was reduced in patients with open ASD but not closed ASD. Reduced exercise capacity affected several domains of perceived health-status in ASD patients.

Pulmonary Vascular Resistance as Assessed by Bicycle Stress Echocardiography in Patients With Atrial Septal Defect Type Secundum

Background— Volume overload of the pulmonary circulation in patients with atrial septal defect (ASD)-type secundum causes pulmonary vascular disease over a long period of time. This study aimed at (1) evaluating pulmonary vascular resistance (PVR) and (2) investigating the relation between PVR and exercise capacity in patients with open and closed ASD. Methods and Results— Forty-six patients with ASD-type secundum (18 open, 28 closed) and 20 age-matched controls were enrolled. All underwent standard and symptom-limited bicycle stress echocardiography and cardiopulmonary exercise testing. PVR was calculated as the slope of a pulmonary artery systolic pressure (PAP)-flow plot or as the ratio of PAP to cardiac output (total PVR). The slope of PAP-flow was higher in patients with open (5.1±2.2 versus 3.0±0.8 mm Hg/L per min; P =0.002) and closed ASD (4.0±1.7 versus 3.0±0.8 mm Hg/L per min) compared with controls. In patients with an open ASD, total PVR did not change from rest to peak exercise. In patients with a closed ASD and controls, total PVR decreased from rest to peak exercise. However, in patients with an ASD closed later in life (≥34 years, median age at repair), the slope of PAP-flow was higher (5.1±1.4 versus 3.0±0.8 mm Hg/L per min; P &lt;0.0001), but total PVR did not change from rest to peak exercise. Peak oxygen consumption correlated inversely with the slope of the PAP-flow plots in patients with open ( P =0.013) and closed ASD ( P =0.005). Conclusions— In patients with an open ASD, the slope of PAP-flow was higher and total PVR did not change from rest to peak exercise. In patients with an ASD closed later in life, the slope of PAP-flow was higher and total PVR did not change from rest to peak exercise, indicating altered pulmonary hemodynamics in these patients.

Partial Anomalous Pulmonary Venous Connection to the Superior Vena Cava

We describe the surgical technique of reimplantation of the right superior pulmonary vein into the left atrium in 2 patients with partial anomalous pulmonary venous connection to the superior vena cava without atrial septal defect. A right axillary minithoracotomy is done through the fourth intercostal space. The pulmonary vein is detached from its origin in the superior vena cava. This is sutured with 6-0 reabsorbable polydioxanone suture (Ethicon, Somerville, NJ). A lateral clamp is applied to the left atrium, and the pulmonary vein is reimplanted. The patient is extubated in the operating room. Neither cardiopulmonary bypass nor blood transfusion was required. It is simple, safe, and reproducible.

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

Congenital heart defects (CHDs) occur mostly sporadic, but familial CHD cases have been reported. Mutations in several genes, including NKX2.5, GATA4 and NOTCH1, were identified in families and patients with CHD, but the mechanisms underlying CHD are largely unknown. We performed genome-wide linkage analysis in a large four-generation family with autosomal dominant CHD (including atrial septal defect type I and II, tetralogy of Fallot and persistent left superior vena cava) and low atrial rhythm, a unique phenotype that has not been described before. We obtained phenotypic information including electrocardiography, echocardiography and DNA of 23 family members. Genome-wide linkage analysis on 12 affected, 5 unaffected individuals and 1 obligate carrier demonstrated significant linkage only to chromosome 9q21-33 with a multipoint maximum LOD score of 4.1 at marker D9S1690, between markers D9S167 and D9S1682. This 48-cM critical interval corresponds to 39 Mb and contains 402 genes. Sequence analysis of nine candidate genes in this region (INVS, TMOD1, TGFBR1, KLF4, IPPK, BARX1, PTCH1, MEGF9 and S1PR3) revealed no mutations, nor were genomic imbalances detected using array comparative genomic hybridization. In conclusion, we describe a large family with CHD and low atrial rhythm with a significant LOD score to chromosome 9q. The phenotype is representative of a mild form of left atrial isomerism or a developmental defect of the sinus node and surrounding tissue. Because the mechanisms underlying CHD are largely unknown, this study represents an important step towards the discovery of genes implied in cardiogenesis.

Acquired left ventricular–right atrium shunts

Left ventricular to right atrial (LV-RA) shunt is an unusual type of ventricular septal defect (VSD). This article concentrates on acquired LV-RA shunts, which may be due to complications of cardiac operation, endocarditis, trauma or myocardial infarction. A previous cardiac operation is its most common cause. The diagnosis of LV-RA communication is not easy, and it should be remembered in patients who do not recover normally. Diagnosis can be confirmed with ultrasound or magnetic resonance image (MRI). Surgical correction is usually the treatment of choice, but closing the communication percutaneously should be considered as an option.

Gerbode Ventricular Septal Defect Diagnosed at Cardiac MR Imaging: Case Report

This report describes the ability of cardiac magnetic resonance (MR) imaging to depict an unusual cardiac defect. A type of ventricular septal defect called the Gerbode defect, which results in a communication between the left ventricle and the right atrium, is presented. To the authors' knowledge, this is the first time cardiac MR imaging has been utilized to characterize this defect.

Pattern of ventricular septal defects and associated complications.

To determine the frequency of various types of Ventricular Septal Defect (VSD) in local population and their complications. Case series. The Paediatric Cardiac Unit of the Children Hospital and Institute of Child Health, Lahore, from January 2006 to December 2007. All patients aged between one day to 18 years presenting to the unit with isolated VSD during the study period were evaluated using 2-D, continuous wave Doppler and colour Doppler techniques on transthoracic echocardiography. Where necessary, transesophageal echocardiography and/or angiography data was used to further clarify the anatomy. Of the 854 patients with isolated VSD, 710 were of perimembranous type (83.1%), 100 were muscular type (11.7%), 25 were doubly committed subarterial (DCSA) type (2.9%) and 19 patients were having inlet VSD (2.2%). The mean age was 2.1+3 years. Females were 332 (38.8%) and males were 522 (61.1%). Aortic Valve Prolapse (AVP) was seen in 77 patients (10.8%). The mean age for this subgroup was 5.8+4 years with 54 (70.1%) males and 23 (29.9%) females. Of those, 36 (47.3%) had various degree of aortic regurgitation. Right ventricular outflow tract obstruction of variable severity was found in 4 patients. Two of these patients had echocardiographic evidence of subacute bacterial endocarditis. Perimembranous (PM) VSD is the commonest type of ventricular septal defect presenting to a tertiary care hospital. The incidence of AVP and AR is high (10.8%) and was found almost entirely in perimembranous outlet VSDs rather than DCSA. This observation has special implication in Pakistan where pool of unoperated VSDs is large.

Conotruncal anomalies in fetal life: Accuracy of diagnosis, associated defects and outcome

Objectives To assess the accuracy of prenatal echocardiography, associated anomalies, and outcome of fetuses with conotruncal anomalies (CTA). Study design We searched our database for CTA prenatally diagnosed between 1990 and 2005. We included tetralogy of Fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), truncus arteriosus (TA), pulmonary atresia with ventricular septal defect (PA-VSD) and posterior malalignment type VSD with aortic arch obstruction (pmtVSD-AAO). Data of 144 fetuses with complete follow-up were retrieved and analyzed. Results The main reason for referral was suspected heart defect on a routine obstetric scan (72%). Most cases were detected ≤22 weeks (55%). The presence of a CTA was confirmed postnatally in 143 cases (99%), and the diagnosis of the first fetal echocardiography was correct in 126 (87.5%). Most diagnosis of TOF (33/36, 91.7%), TGA (34/38, 89.5%) and DORV (34/38, 89.5%) were proved correct. Inadequate assessment of the interventricular septum, the distal aortic arch and/or the severity of the right outflow tract obstruction accounted for most errors. The accuracy rate was lower in TA (11/14, 78.6%) and PA-VSD (4/7, 57.1%), with evaluation of the branch pulmonary arteries as the main source of discrepancies. In 7/18 incorrect cases subsequent scans allowed to obtain a correct diagnosis. Most fetuses (64%) had an isolated CTA. Thirty-seven had chromosomal anomalies (26%) but none were found in TGA. 22q11 deletion affected 8.7% of the tested patients. Nuchal translucency (NT) was above 95th centile in 19/104 cases (18%) in which NT were measured. Fifty cases were interrupted. The overall one-year survival rate was 71%, with differences between cases with and without associated defects (9/25, 36% vs. 57/68, 83.8%; p < 0.01). The uncomplicated forms of TGA and TOF had the best survival rates (100%). Conclusions Most CTA can be diagnosed by fetal echocardiography with a high degree of accuracy. Chromosomal defects should always be ruled out, except for simple TGA. Current survival figures in many isolated CTA, especially simple TGA and TOF, support a change in the “classical” concept that congenital heart defects detected prenatally often have the worst outlook. Condensation Most CTA can be diagnosed by fetal echocardiography with a high degree of accuracy. Isolated CTA are more common and most of these may have a favourable outcome.

Recurrence of cerebrovascular events in young adults with a secundum atrial septal defect

Background The recurrence rate for cerebrovascular ischemic events in patients after a first TIA or CVA with an atrial septal defect type 2 (ASD2) remains unknown. At present, there are no guidelines with respect to appropriate treatment. The aim of this study was to determine incidence rates of recurrent cerebrovascular events in patients with ASD2. Methods A multicenter, retrospective study was performed at selected centres in The Netherlands, United Kingdom and United States. All patients with ASD2 and a prior cerebrovascular event were identified from available databases. Clinical data were retrieved from medical files, electronic databases and radiographic charts. Results Fifty-six adult patients born between 1950 and 1990 (median age at first cerebrovascular event 37.5, range 15–53 years) were recruited. Recurrent events (9 TIA, 2 CVA) were recorded in 11 patients (19.6%) during a median follow-up time of 5.3 years (range 0.2–28.9). Non-closure of the defect was the only significant predictor of a recurrent event ( p = 0.01). Conclusion Patients with an ASD2 and a history of a cerebrovascular ischemic event have a substantial risk for recurrent events. Closure of the ASD2 seems to substantially decrease the risk of recurrence. However, prospective randomized trials are needed to confirm our findings.

The presence of bicuspid aortic valve does not predict ventricular septal defect type

Previous studies have identified an increased incidence of bicuspid aortic valve (BAV) in patients with ventricular septal defect (VSD). Because endocardial cushion remodeling contributes to both the formation of semilunar valves and ventricular septation, we hypothesized that examination of humans with BAV and VSD would identify a specific VSD type. We evaluated VSD type in pediatric patients diagnosed with BAV and VSD (n=82) and compared findings to patients diagnosed with VSD and normal aortic valve morphology (n=429). VSD type was described as conoventricular, muscular, inlet or conoseptal using a clinical taxonomy. Based on the contribution of the outflow tract endocardial cushions to the membranous ventricular septum, we expected patients with BAV to have conoventricular VSD. In both patient groups, conoventricular VSD was most common; however, the prevalence was not significantly different when BAV patients were compared to those with normal aortic valve morphology (67% vs. 57%, P=0.11). The primary finding of this study is that despite a developmental link between semilunar valve formation and ventricular septation during cardiogenesis, there is no clear association between BAV and VSD type. This may be due to phenotypic and genetic heterogeneity of BAV and VSD, other modifying factors as manifested by differences in associated CVM, as well as limitations of the clinical taxonomy of VSD.

Atrial septal aneurysm associated with additional cardiovascular comorbidities in two middle age female patients with ECG signs of right bundle branch block: two case reports

IntroductionAtrial septal aneurysm (ASA) is often associated with other atrial septal abnormalities, particularly with atrial septal defect type ostium secundum or patent foramen ovale. ECG signs of incomplete or complete right bundle branch block are known to be associated with atrial septal defects, however such correlation with other atrial septal abnormalities is not documented.Case presentationsWe report here two cases of middle age female patients that presented with dyspnea on physical effort, right bundle branch block (RBBB) on ECG and ASA combined with other cardiac disorders. Transesophageal echocardiography revealed additional information to the ones obtained by surface echocardiography, in both cases.ConclusionASA associated with RBBB on ECG may serve as a hint for the presence of additional cardiac abnormalities, thus rousing the demand for a detailed cardiac investigation.

Minimally Invasive Congenital Cardiac Surgery Through Right Anterior Minithoracotomy Approach

Median sternotomy has been the conventional approach for correction of congenital cardiac defects despite poor cosmetic results at times. Right anterior minithoracotomy was, therefore, assessed as an alternative procedure with a better cosmetic outcome. From October 2002 through February 2007, 75 patients underwent correction of congenital cardiac malformations with the use of cardiopulmonary bypass through right anterior minithoracotomy involving a short incision through the fifth intercostal space and the minimally invasive cannulation. Of them, 18 patients were infants, 42 were children, and 15 were adult. The average age was 9.26 +/- 14.1 years (range, 1.2 to 56). The average weight was 19.59 +/- 24.3 kg (range, 8.5 to 118 kg). The corrected defects included atrial septal defect type II, sinus venosus atrial septal defect with partial anomalous pulmonary venous drainage, atrial component of atrioventricular septal defect, perimembranous ventricular septal defects with patent foramen ovale, mitral valve repair (complex), repair of cleft mitral valve, cor triatum atrial septal defect, repair of double-chambered right ventricle and extraction of atrial septal defect closure device. Skin incisions were as long as 5 cm. There was no operative or late mortality or major morbidity. The mean cardiopulmonary bypass time was 58.67 +/- 35.11 minutes (range, 32 to 263). Sixty-five patients were extubated in the operating room; the remaining 10 patients were extubated within 4 hours. Cosmetic result was very satisfactory in all patients. Two adult patients complained of some right chest musculoskeletal discomfort. The right anterior minithoracotomy incision is a safe and effective alternative to a median sternotomy for correction of congenital heart defects. Cosmetic results are highly satisfactory.