Congenital Heart Abnormalities Research Articles

Arsenic in the drinking water and congenital heart anomalies

Background: There are very few human data on the teratogenic effect of arsenic exposure during pregnancy, though animal data suggest that such an effect may exist. Objectives: to study the possible associations between arsenic content of the drinking water and some congenital anomalies. Methods: Data for the years 1980-2003 were taken from the Hungarian Congenital Abnormality Registry (HCAR). The chosen birth defects were congenital heart anomalies (n=11443), club-foot (pes varus, n=3189) multiplex congenital anomalies (3026), Down syndrome (2008) and congenital hip dislocation (n=4769). Data on arsenic content of the drinking water in the settlements where the mothers of these babies lived during pregnancy were collected from archive data bases of the National Institute of Environmental Health. In 96.5% of cases the settlements were covered by this source of information. A cut-off point of 10µg/L arsenic concentration was chosen for analysing the associations between arsenic exposure and prevalence of the chosen birth defects by logistic regression using STATA/SE 9.2 software. Age of the mother and gender of the baby were adjusted for. Results: A significantly increased risk was observed for congenital heart anomalies in settlements supplied with drinking water with arsenic concentration above 10µg/L. (OR=1.34; 95% C.I.= 1.24-1.46) Both gender (being boys) and age of the mother (positively) were significantly associated with the prevalence of congenital heart abnormalities. Conclusion: Our study support the hypothesis that arsenic content of the supplied drinking water may cause congenital anomalies of the heart.

Fetal congenital heart defects and abnormality of placenta and umbilical cord

Fetal congenital heart defects and abnormality of placenta and umbilical cord

An unusual case of anomalous origin of the right coronary artery and hepatic focal nodular hyperplasia

Anomalous origin of the right coronary artery (ARCA) and focal nodular hyperplasia (FNH) are frequently reported in association with congenital heart abnormalities but not with each other. We propose that both conditions may share common origins in a maladative hyperplastic response to differential vascular flow due to developmental arterial malformations or aberrant Notch signalling during simultaneous gut and cardiac vasculorigenesis.

Combined interventional cardiac procedures in pediatric patients with congenital heart abnormalities and cardiac arrhythmias

Combined interventional cardiac procedures in pediatric patients with congenital heart abnormalities and cardiac arrhythmias

Abstract 171: Nkx2-5 Suppresses The Proliferation Of Atrial Cardiomyocytes And Formation Of The Conduction Cells During Cardiac Development

Mutation of human NKX2-5 is linked to atrioventricular conduction abnormalities and atrial septal defects. However, it has been difficult to rigorously examine the primary role of Nkx2-5 during the formation of the atria and cardiac conduction cells due to the concurrent hemodynamic aberration associated with ventricular dysfunction. Here, we examined the role of Nkx2-5 in the formation of the atria and conduction cells. Nkx2-5 was conditionally ablated in the atrial cardiomyocytes using atrial-specific Sln-Cre mouse line. The conditional mutants died shortly after birth, which is earlier and more severe than ventricular-specific knockout of Nkx2-5. While no evidence of ventricular failure was identified, atrial-specific conditional mutants developed congenital heart abnormalities including enlarged foramen ovale and hyperplastic atrial myocardium. Histological analyses revealed that the overproliferation of the atrial myocytes underlies the hyperplastic atrial myocardium prior to the development of the atrial septal enlargement. Moreover, conditional mutants showed massive expansion of SA node, AV node and internodal conduction cells, resulting in atrioventricular blocks that were further exacerbated by catecholamine stimulation. Given that the hemodynamic alteration is minimal during the gestational stages in our model, the misspecification of the conduction cells is not likely due to the alteration of the hemodynamics. Together, these data suggest that Nkx2-5 plays a suppressive role in the proliferation of the atrial cardiomyocytes and the formation of the conduction cells.

Abstract 073: Late Onset of Wolff-Parkinson-White Syndrome in a 48 year old Post-Menopausal Woman

Introduction— First described in 1930, Wolff-Parkinson-White syndrome, or WPW syndrome, is an abnormal extra electrical pathway in the heart that can lead to tachycardia, palpitations and rarely sudden cardiac death. The extra electrical pathway of Wolff-Parkinson-White syndrome is present at birth and is a congenital heart abnormality occurring in about 1 per 1,000. Young men have a higher incidence of WPW than women. Episodes of tachycardia often first occur when they are in their teens or early 20s. The definitive treatment of WPW is a destruction of the abnormal electrical pathway by radiofrequency catheter ablation with success rates of as high as 95%. If radiofrequency catheter ablation is successfully performed, the condition is generally considered cured. Recurrence rates are typically less than 5% after a successful ablation. Case description— A 48 year old post-menopausal woman with intermitted palpitations and syncope over approximately one month which were affecting her daily activities presented to our family practice center complaining of worsening palpitations and new onset tachycardia. An EKG revealed a positive delta wave. Unique features were late onset diagnosis at age of 48 year old post-menopausal female without any previous documentation of WPW syndrome on an EKG. WPW is usually diagnosed in men in their early 20’s. Additional cardiac workup included a 24hr Holter monitor; exercise EKG treadmill test and transthoracic echocardiography which helped confirm the initial diagnosis. The patient had catheter ablation approximately two months after the first symptoms appeared. The procedure involved a Thermocool ® catheter and 3D electroanatomic mapping using the Ensite ® system which led to a successful ablation of the accessory pathway. Discussion— This case involves a very rare condition with an atypical late onset. WPW is normally diagnosed in men at a young age. The unique and rare features of this case were the recent onset of palpitations, syncope and tachycardia, evolving at a fairly advanced age of 48 years old, without any previous documentation of WPW syndrome in an ECG. The patient also had a full recovery and had no further symptoms of palpations, syncope and tachycardia since undergoing the catheter ablation surgery.

Lack of Genetic Interaction between Tbx20 and Tbx3 in Early Mouse Heart Development

Members of the T-box family of transcription factors are important regulators orchestrating the complex regionalization of the developing mammalian heart. Individual mutations in Tbx20 and Tbx3 cause distinct congenital heart abnormalities in the mouse: Tbx20 mutations result in failure of heart looping, developmental arrest and lack of chamber differentiation, while hearts of Tbx3 mutants progress further, loop normally but show atrioventricular convergence and outflow tract defects. The two genes have overlapping areas of expression in the atrioventricular canal and outflow tract of the heart but their potential genetic interaction has not been previously investigated. In this study we produced compound mutants to investigate potential genetic interactions at the earliest stages of heart development. We find that Tbx20; Tbx3 double heterozygous mice are viable and fertile with no apparent abnormalities, while double homozygous mutants are embryonic lethal by midgestation. Double homozygous mutant embryos display abnormal cardiac morphogenesis, lack of heart looping, expression patterns of cardiac genes and time of death that are indistinguishable from Tbx20 homozygous mutants. Prior to death, the double homozygotes show an overall developmental delay similar to Tbx3 homozygous mutants. Thus the effects of Tbx20 are epistatic to Tbx3 in the heart but Tbx3 is epistatic to Tbx20 with respect to developmental delay.

In This Issue

HomeCirculation ResearchVol. 113, No. 1In This Issue Free AccessResearch ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessResearch ArticlePDF/EPUBIn This Issue Originally published21 Jun 2013https://doi.org/10.1161/RES.0b013e31829ef526Circulation Research. 2013;113:2MEF2 Activity and Apelin-APJ (p 22)Kang et al uncover the role of apelin-APJ signaling in mammalian cardiovascular development.The small peptide ligand apelin and its receptor APJ are known to be involved in cardiovascular development in both frogs and fish. Surprisingly, the role of apelin-APJ in mammalian cardiovascular development remains unknown. Kang et al studied mice that had homozygous null alleles of the Apj gene, most of whom die as embryos between stage E10.5 and E12.5 of embryogenesis. They found that the mutant mouse embryos exhibited a broad spectrum of cardiovascular developmental abnormalities, including particular blood vessels that were either poorly developed or entirely missing, and hearts that were malformed. Even the few mice—less than 10 percent—that survived into adulthood showed significant heart malformations, including enlarged right ventricles and septal defects. Apelin-APJ regulates the expression of the transcription factor KLF2, and the team showed that this occurs via activation of another transcription factor - MEF2, a known activator of KLF2. The critical importance of apelin-APJ signaling in mammalian cardiovascular development suggests that the ligand and its receptor could be a focus for study in humans with congenital heart abnormalities, the authors say.Download figureDownload PowerPointEndothelial MiR-126 and SMC Turnover (p 40)MicroRNA-126 promotes smooth muscle cell turnover and the progression of atherosclerotic lesions, say Zhou et al.Vascular smooth muscle cells (VSMCs) are generally quiescent in adult blood vessels but can be sparked back into a proliferative state both in atherosclerotic lesions and during vessel injury, where they promote angiogenesis leading to an increase in angiogenesis. The microRNA miR-126 is a regulator of angiogenesis and it is produced by endothelial cells (ECs). Given the proximity of ECs to SMCs in vessel walls, Zhou and colleagues wondered whether miR-126 might promote angiogenic behavior in SMCs. And It did. They found that SMCs cultured with ECs exhibited higher levels of proliferation, and this increase was mitigated when miR-126 was blocked in the ECs. Interestingly, ECs exposed to laminar sheer stress did not secrete as much miR-126 as those exposed to an oscillatory fluid flow, which is known to promote atherogenesis in blood vessels. Indeed, endothelial material extracted from mouse arterial regions associated with oscillatory flow and atherosclerotic lesions had a 3-fold higher level of miR-126 expression than arterial regions experiencing lamina flow. These results provide at least a partial explanation of why oscillatory flow promotes atherosclerosis, and may offer clues to stop SMCs from undergoing pathological proliferation.Download figureDownload PowerPointADAM17 and CD36-Mediated Apoptotic Cell Uptake (p 52)Deleting the protease ADAM17 helps macrophages clear up inflammation, report Driscoll et al.Clearing up the remains of apoptotic cells is essential for wound healing and for the resolution of inflammation. Indeed, dysfunctional cell clearance is commonly observed in chronic inflammatory disorders. Macrophages do most of this work, using receptors on their cell surface to recognize, and trigger phagocytosis of apoptotic cells. However, the receptors can be proteolytically cleaved from macrophages, and this has been offered as one reason why levels of soluble receptors are increased in the tissue fluids during inflammation. To investigate this phenomenon more closely, Driscoll and colleagues deleted ADAM17 - a protease known to cleave cell surface receptors involved in inflammation—from macrophages in mice. Following induced inflammation, the team observed that phagocytosis of apoptotic cells was increased in mice with ADAM17-null macrophages, and that inflammation resolved more quickly. They also identified CD36 as the cell surface receptor targeted by ADAM17, showing that soluble CD36 levels were reduced in media incubated with ADAM17-null macrophages compared with wildtype macrophages. This work provides a new explanation of why soluble CD36 levels are increased in many chronic inflammatory conditions, and these findings may also provide additional avenues for resolving inflammation.Download figureDownload PowerPoint Previous Back to top Next FiguresReferencesRelatedDetails June 21, 2013Vol 113, Issue 1 Advertisement Article InformationMetrics © 2013 American Heart Association, Inc.https://doi.org/10.1161/RES.0b013e31829ef526 Originally publishedJune 21, 2013 PDF download Advertisement

Lipoprotein(a) Concentrations in Adult Congenital Heart Disease Patients

Lipoprotein(a) (Lp(a)) contributes to the formation to atherosclerosis, promotes inflammation and stimulates prothrombotic processes. One hundred seventeen adult congenital heart disease (ACHD) patients and 152 controls were studied to compare serum Lp(a) concentrations in different subgroups of congenital heart abnormalities. Analytically, Lp(a), total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein cholesterol, triglycerides, and C-reactive protein (CRP) were studied. In congenital heart disease patients, N-terminal-pro-B-type natriuretic peptide levels were also determined. Thirty-nine (25.6%) patients in the control group and 33 (28.2) ACHD patients (2 hypoxemic and 31 nonhypoxemic) had a Lp(a) concentration higher than 30 mg/dL. No significant differences were seen between patients with Lp(a) concentration ≤30 or >30 mg/dL after performing a binary logistic regression multivariate analysis including as covariates all the variables that showed significance (P < .001) between the case and control groups (age, gender, CRP, and total, LDL, and high-density lipoprotein cholesterol) besides being congenital or not. Similarly, no significant differences were found between ACHD patients with Lp(a) concentration lower and higher than 30 mg/dL after performing a multivariate analysis in which age, sex, body mass index, LDL-cholesterol levels, and being or not hypoxemic were included as covariates. Pearson's correlation showed a significant positive correlation (0.27) between LDL-cholesterol and Lp(a) concentrations (P = .004) and between CRP and N-terminal-pro-B-type natriuretic peptide levels (0.19) in ACHD patients (P = .035). Adult congenital heart disease patients showed lower serum total cholesterol and LDL-cholesterol levels than no-congenital patients although no significant differences were seen in Lp(a) concentrations between both groups.

İzole persistan sol süperiyor vena kavanın çok kesitli bilgisayarlı tomografi ile üç boyutlu görüntülenmesi

Demonstration of isolated persistent left superior vena cava by three-dimensional multislice computed tomography Persistent left superior vena cava (PLSVC) is an unusual congenital heart disease. Although it has no hemodynamic insult to the heart, it may accompany other congenital heart pathologies. PLSVC is seen in 0.3%–0.5% of the normal population and 1.5%–10% of patients with other congenital heart abnormalities. In this report CT findings of PLSVC is presented.

Percutaneous transluminal angioplasty in a patient with chronic cerebrospinal venous insufficiency and persistent left superior vena cava

Chronic cerebrospinal venous insufficiency (CCSVI) is a syndrome characterized by stenoses of the internal jugular veins (IJVs) and/or azygos veins and formation of collateral venous channels. A case of a 57-year-old patient with CCSVI in whom the venous outflow from the left IJV to the right atrium occurred through a venous anomaly, the persistent left superior vena cava (PLSVC), is reported. PLSVC is caused by persistence of the left anterior cardinal vein that drains blood from the limb effluent from the left and the left side of head and neck into coronary sinus (Type a), or in the left atrium (Type b). PLSVC can be associated either with innominate vein hypoplasia or other congenital heart abnormalities. Because of evidence of left innominate vein hypoplasia, angioplasty was not performed using the ordinary route but passing with the balloon directly through the PLSVC up to the left IJV. Finally, angioplasty was carried out in a standard manner in the right IJV as well as in the azygous vein. Confirmation angiogram revealed complete reopening of all treated vessels with no evidence of peri- and postoperative complications. The patient was discharged home the following day in good general conditions. PLSVC is a rare congenital vein anomaly but in case of concomitant innominate vein hypoplasia may prove to be a valuable alternative to treat patients with IJV diseases.

Subclinical Hypothyroidism in Grown-Up Congenital Heart Disease Patients

Subclinical hypothyroidism usually is asymptomatic, but it can be associated with various adverse cardiologic outcomes. With the objective of gaining insight into the role of thyroid-stimulating hormone (TSH) in congenital heart abnormalities, this study measured serum TSH concentrations in different subtypes of grown-up congenital heart disease (GUCHD) patients. Serum TSH (reference range, 0.34-5.6 mIU/L), creatinine, cholesterol, C-reactive protein (CRP), N-terminal proB-type natriuretic peptide (NT-pro-BNP), and 24-h proteinuria were measured in 249 GUCHD patients. Of 24 GUCHD patients (9.6 %) with a TSH level higher than 5.6 mUI/L, nine were cyanotic (37.5 %) and seven (29.1 %) had Down syndrome. The GUCHD patients with serum TSH exceeding 5.6 mIU/L had a significantly higher level of serum NT-pro-BNP (195.1 [0.28; 5,280.3] vs 57.6 [0.00; 929.8]; p = 0.001) and CRP (0.30 [0.06; 1.87] vs 0.16 [0.00; 1.40]; p = 0.011] than those with a TSH level of 5.6 mIU/L or lower. No significant differences were found in serum creatinine, lipids, or 24-h proteinuria between the two groups. The T4 concentrations in the GUCHD patients with TSH exceeding 5.6 mIU/L were within the normal range (0.89 ± 0.23 ng/dL). In the multivariate analysis, cyanosis (odds ratio [OR], 6,399; 95 % confidence interval [CI] 2,296-17,830; p < 0.001), Down syndrome (OR, 6,208; 95 % CI, 1,963-19,636; p = 0.002), and NT-pro-BNP concentrations (OR, 1,001; 95 % CI, 1,000-1,002; p < 0.026) proved to be risk factors for TSH levels higher than 5.6 mIU/L. Because subclinical hypothyroidism entails a cardiovascular risk, the authors postulate that TSH screening should be included in the routine follow-up evaluation of GUCHD patients with cyanosis or Down syndrome.

742 Chromosomal Abnormalities in a Tertiary Neonatal Intensive Care Unit

Background and AimCongenital malformations and chromosomal abnormalities are important problems for the neonatal morbidity and mortality especially in well developed countries. In this study we investigated the prevalence and distribution...

OP12.05: First trimester: two‐ or four‐dimensional fetal heart study?

14+6 weeks gestation in morphologically normal fetuses and fetuses with congenital heart abnormalities. Methods: Fetal echocardiogram was performed on 247 women between 11+0 and 14+6 weeks of gestation. Exclusion criteria included maternal age 30, and multifetal gestations. Combined transabdominal and transvaginal ultrasound was used for cardiac evaluation. The cardiac examination included assessment of the following eight planes: abdominal circumference (situs), four-chamber view, left ventricular outflow tract, right ventricular outflow tract, three-vessel-trachea view, aortic arch, ductal arch, and bicaval view. Successful visualization rate of each cardiac plane as well as full cardiac examination using 2D, 2D+ color Doppler and 2D+ HD color Doppler was evaluated. Results: CHD were diagnosed in 41 cases. Successful visualization of each diagnostic cardiac plane as well as a complete exam increased with gestational age. Use of HD color Doppler in addition to 2D ultrasound was associated with the highest visualization rate of the fetal cardiac anatomy at each gestational age in both normal fetuses and fetuses with CHD. Conclusions: High-definition color Doppler provides significant advantages in cardiac imaging between 11+0 and 14+6 weeks gestation and may help improve the detection of congenital heart anomalies in early gestation.

Placental findings in cord accidents

Many stillbirth cases are under- or completely un-investigated, for many reasons, including lack of consent for fetal autopsy. Placental examination is a non-invasive means, by which much information can be gained about adverse pregnancy outcomes, including stillbirth. Complete gross and histologic examination of the placenta can both point out and exclude multiple potential causes for stillbirth. “Cord accident,” defined by obstruction of fetal blood flow through the umbilical cord, is a common ante- or perinatal occurrence. Obstruction can be either acute, as in cases of cord prolapse during delivery, or subacute-to-chronic, as in cases of grossly abnormal umbilical cords (e.g. long cord, hypertwisting, cord with true knots, entangled cord, velamentous cord, etc). In the past, this diagnosis has relied on clinical history and has otherwise been one of exclusion for the pathologist, when, following a complete autopsy and placental examination, no other cause of death is found. Since as many as 20% of normal livebirths are associated with a nuchal cord, clinical history by itself is not reliable for diagnosis of this entity. Over the past few years, we have studied the placenta in setting of cord accident, and have established histologic criteria for its diagnosis, which can identify this entity with high specificity [1,2]. Our initial study identified cord accident-related changes in large fetal vessels in the placenta [1]. These changes are all likely related to obstruction-induced vascular stasis, leading to dilated and thrombosed fetal vessels, most commonly found in the chorionic plate and large stem villous vessels [1,2]. These “minimal” criteria have a sensitivity of 62% and specificity of 79% [2]. The additional finding of fetal thrombotic vasculopathy (FTV) in sections of placental disc increases the specificity to 94%, albeit lowering the sensitivity (46%) [2]. FTV is defined by the diminuition of fetal vessels in terminal chorionic villi, leading early on to “villous stromal karyorrhexis,” with fragmented red cells and cellular debris over the receding fetal vessels, and later on, by “avascular villi,” characterized by fibrotic stroma and complete avascularity [3]. Originally suspected to be a marker for fetal and/or maternal thrombophilia, more recent studies have found it to be most commonly associated with grossly abnormal umbilical cords, which predispose to cord compression and compromise fetal blood flow [3]. Our own previous studies have shown that FTV is commonly seen in cases with gross abnormalities of the umbilical cord [4] as well as associated with fetal growth restriction, congenital heart abnormalities, and stillbirth, particularly those associated with umbilical blood flow compromise [5]. A few considerations regarding application of these criteria warrant mention here. First, these changes are characteristic of intermittent interruption of umbilical cord blood flow, and are therefore not useful in cases of acute cord accident (e.g. cord prolapse) [1]. Second, post-mortem changes in the chorionic villi can resemble changes of FTV, particularly when the placenta is retained over 48 hours following stillbirth [6]. In these settings, it is important to remember that FTV is a temporally heterogeneous lesion, while post-mortem change is uniform throughout the entire placental disc; therefore, the two are distinguishable in a careful histologic examination of the placenta [1,2,6]. Finally, due to the temporal heterogeneity of FTV, and the fact that focal FTV cannot be identified grossly, a more thorough sampling of the placental disc is warranted in the setting of stillbirth, particularly if cord accident is suspected. We routinely submit 4, instead of the usual 2, sections of the placental disc in the setting of stillbirth.

Myocardial Perfusion Single-Photon Emission Tomography (SPET) and Positron Emission Tomography–Computed Tomography (PET-CT) Imaging for Congenitally Corrected Transposition of Great Arteries

Congenitally corrected transposition of great arteries (ccTGA) consists of both atrioventricular and ventriculo-arterial discordance. In patients with ccTGA, the pulmonary artery arises from the left ventricle, whereas the aorta arises from the right ventricle. The burden of the systemic blood pressure on the right ventricle involves an increased risk of coronary artery disease (CAD) and, as a long-term consequence, myocardial hypertrophy and gradual failure. This report describes the case of an adult patient affected by ccTGA who was referred for an episode of atypical chest pain while at rest. First-line diagnostic examinations were inconclusive. Myocardial perfusion single-photon emission tomography (SPET) was performed to exclude CAD, but the congenital abnormalities of the patient's heart made interpretation of the images particularly difficult. A perfusion positron emission tomography-computed tomography (PET-CT) scan with (13)N-ammonia then was suggested, which unmasked an unexpected artifact. The case report demonstrates that hybrid imaging techniques such as SPET-CT and PET-CT should be used systematically when CAD is suspected for patients with abnormal anatomy of the heart, including ccTGA.

Inhaled iloprost as part of combination therapy for persistent pulmonary hypertension of the newborn

Persistent pulmonary hypertension of thenewborn (PPHN) is rare, but life-threatening.If not treated, PPHN may cause respiratoryfailure and death in neonates. l,2,3 PPHNoften occurs in term or post-term infants with a historyof difficult labor, infection or asphyxia during birth.These infants do not have adequate oxygen duringlabor.3 Based on etiology, PPHN can be categorizedinto primary PPHN, which occurs by itself withoutapparent cause; or secondary PPHN, which is causedby meconium aspiration, hyaline membrane disease,neonatal sepsis with pneumonia, congenital heartabnormality, or maternal drug use (non-steroidalanti-inflammatories, methamphetamine, or selectiveserotonin re uptake inhibitors) during the thirdtrimester of pregnancy.

Palpitaciones en situación de estrés

Wolff-Parkinson-White (WPW) syndrome, a congenital heart abnormality, is the most common of the pre-excitation syndromes. The prevalence of WPW syndrome ranges from 0.1 to 3 cases per 1000 people. A large majority (80%) of patients with WPW syndrome develop supraventricular tachycardia, between 15% and 30% atrial fibrillation, and atrial flutter 5%. The clinical presentation can vary from vertigo, palpitations, breathlessness, chest tightness, to sudden death in rare cases. We report the case of a patient presenting with WPW syndrome after a stressful work situation.

Computer-Aided Fetal Cardiac Scanning using 2D Ultrasound

Fetal heart biometry is an indicator for providing information about the presence of heart chambers, their growth, and well being. As a clinical routine, ultrasonic scanning based fetal biometry is performed during the second trimester by skilled specialists. Such procedures are often considered tedious and time consuming. Detection of congenital heart abnormalities, such as septal defects, affects the proper functioning of the heart during the growth of the fetus, and such defects can be identified if the fetal heart structure and its features like size, shape, and symmetry are monitored. Recently, attempts have been made to provide computer-aided automated procedure where the performance depends on the efficacy of the developed algorithms. This work focuses on computer aided automated fetal cardiac scanning using 2-D ultrasonic imaging from fetal heart biometry. The process involves extracting frames from the cine-loop sequences followed by removal of noise using morphological filters. The chamber region is recognized by introducing automated region of interest (ROI). Experimental simulation study demonstrates the efficiency of algorithm in detecting the shape of each chamber. The identified chamber shape will further facilitate in automated measurement of fetal heart chamber and thus reduces the qualitative visualization errors.

Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities

We report here a child with a ring chromosome 5 (r(5)) associated with facial dysmorphology and multiple congenital abnormalities. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones was performed to determine the breakpoints involved in the r(5). The 5p deletion extended from 5p13.2-3 to 5pter and measured 34.61 Mb (range: 33.7–35.52 Mb) while the 5q deletion extended from 5q35.3 to 5qter and measured 2.44 Mb (range: 2.31–2.57 Mb). The patient presented signs such as microcephaly, hypertelorism, micrognathia and epicanthal folds, partially recalling those of a deletion of the short arm of chromosome 5 and the “cri-du-chat” syndrome.The most striking phenotypic features were the congenital heart abnormalities which have been frequently reported in deletions of the distal part of the long arm of chromosome 5 and in rings leading to a 5q35-5qter deletion. However, the NKX2-5 gene, which has been related to congenital heart defects, was not deleted in our patient, nor presumably to some other patients with 5q35.3-5qter deletion. We propose that VEGFR3, deleted in our patient, could be a candidate gene for the congenital heart abnormalities observed.