Partial Atrioventricular Canal Defect Research Articles

WHEN CLINICAL FINDINGS TAKE YOU DOWN THE WRONG PATH: PERSISTENT FEVER IN A PATIENT WITH PREVIOUS CARDIAC SURGERY

Abstract Introduction In a patient who underwent previous cardiac surgery, persistent fever may be related to endocarditis. Symptoms and cardiovascular imaging, such as echocardiogram and PET/CT, may guide clinicians and surgeons to the correct diagnosis. Discussion A 43–years–old man came to our attention because of persistent fever (lasting several months) associated with cough and asthenia. When he was 5 years old, he underwent cardiac surgery for partial atrioventricular canal defect (atrial septal defect was about 4 cm) and mitral valve cleft. 14 years ago he undertook chemotherapy due to Hodgkin‘s lymphoma. Recently a cerebral artery aneurysm, radiologically defined as mycotic but proved to be fusiform, was diagnosed and treated with neurosurgery. During a recent hospitalization, blood culture positive for Streptococcus Mitis and brachial rash were reported and antibiotic therapy was started. Suspecting endocarditis, he was referred to our department. Echocardiogram revealed anterior mitral leaflet fissure, resulting in severe mitral regurgitation. Moreover a periannular cavity of doubtful interpretation (seemingly an abscess) was described. Subsequent 18FDG–PET/CT did not detect any abnormal cardiac metabolic activity. Due to severe valve regurgitation, cardiac surgery was performed: myxomatous degenerative mitral valve leaflets, failure of mitral valve cleft closure and anomalous coronary sinus communication to the left atrium (mimicking echocardiogram findings of suspected empty abscess cavity) were observed. Thus mitral valve replacement using a biological valve prosthesis was performed. Macroscopically there was no evidence of endocarditis, confirming PET/CT scan results. During the post–surgery period, third–degree atrioventricular block episodes were noted. Therefore a bicameral pacemaker was implanted. Conclusions This case report demonstrates the importance of not stopping at the first impression, as failure of previous mitral valve repair in a patient presented with persistent fever can mimic endocarditis. Therefore, the results of diagnostic tests should be compared to patients’ medical history and their clinical presentation.

An Unusual Presentation of Partial Atrioventricular Canal Defect in an Elderly Woman

A partial atrioventricular canal defect (PAVCD) is a form of endocardial cushion defect. It’s a rare congenital cardiac malformation, few reported patients have survived into the seventh decade of life. A 71-year-old female with a history of diabetes and hypertension was admitted for heart failure (HF) symptoms. Transthoracic echocardiography revealed a left to right shunt in the basal portion of the interatrial septum, 19mm ostium primum atrial septal defect (ASD), a mitral valve cleft, and severe mitral valve regurgitation. PAVCD consists of an ostium primum ASD and the dividing of the common atrioventricular (AV) valve into 2 separate AV orifices, resulting in a so-called cleft in the mitral valve. The ventricular septum is intact. Echocardiography is the key tool for diagnosis and anatomic classification. Surgical repair is recommended in adults with primum ASDs causing impaired functional capacity, right atrial or right ventricular enlargement, and left-to-right shunt without cyanosis, as long as systolic pulmonary artery pressures are lower than 50% of systemic pressures. Reconstructive surgery includes, in addition to the closure of the interatrial septum, a suturing of the mitral cleft. The estimated mean age at death of the patients with ostium primum ASD is about 40 years. The objective of this clinical case is to highlight the good clinical tolerance of atrial shunts and the anatomical particularities in the PAVCD.

Total anomalous pulmonary venous connection with another major congenital cardiac defect in biventricular hearts.

The association of total anomalous pulmonary venous connection (TAPVC) with major congenital cardiac anomalies is rare. This coexistence has an impact on the diagnosis and management strategies. The objective of this single centre study was to analyse the outcomes of such association in bi-ventricular hearts. This is a single-centre retrospective review of all patients who underwent repair for TAPVC associated with major congenital cardiac anomalies in bi-ventricular hearts from February 2015 to March 2020. Data were obtained from the hospital database. The primary aim was to assess the surgical outcomes. In addition, we described the incidence, pathophysiology, morphology and surgical strategies in this cohort of patients. Out of a total of 274 patients who underwent repair for TAPVC during the study period, 16 (5.8%) patients had one or more major associated cardiac defect anomalies. The major associated lesions were ventricular septal defects (9), tetralogy of Fallot (2), transposition of the great arteries (1), aorto-pulmonary window (1), partial atrioventricular canal defect (1), pulmonary stenosis (1) and severe tricuspid valve regurgitation due to flail chord (1). The mean follow-up period is 32 ± 13 months. There were two deaths in the post-operative period and no deaths in the follow-up period. The incidence of major associated cardiovascular defects with TAPVC in bi-ventricular morphology is 5.8%. The presence of a major associated lesion with TAPVC significantly alters the pathophysiology and clinical presentation with an impact on diagnosis and treatment.

An adult with left isomerism having an interrupted inferior vena cava and persistent left superior vena cava associated with partial atrioventricular canal defect and complete heart block — a case report

BackgroundPersistent left superior vena cava is a well-recognized thoracic venous abnormality, most of which do not present with any symptoms. Its opening into the left atrium is uncommonly encountered and, if present, is noted to be associated with various other complex intracardiac malformations, which further complicates its management. Herein, we highlight a case of an adult with persistent left superior vena cava with a spectrum of other cardiac anomalies rarely encountered with it, which was effectively managed by tailored surgical intervention.Case presentationA 26-year-old female on meticulous evaluation was found to have left isomerism with an interrupted inferior vena cava and hemiazygos continuing as a persistent left superior vena cava. It was also associated with common atrium, partial atrioventricular canal defect, and complete heart block. This complex array of anomalies was managed surgically. Common atrium was closed with atrial neo-septation using autologous pericardial patch tailored in a way, such that the persistent left superior vena cava drained into right atrium with left atrial appendage being on right side of neo-septum. Cleft in the left atrioventricular valve was also repaired. Despite preoperative complete heart block, the patient had an uneventful postoperative recovery and was in atrial fibrillation with controlled ventricular rate, thus precluding the need for permanent pacemaker implantation.ConclusionsA rare spectrum of adult congenital cyanotic heart disease was successfully managed with thorough preoperative evaluation and judicious intraoperative management. Surgical management should be tailored based on specific anatomy for reduction of morbidity and optimum results.

Partial Atrioventricular Canal Defect: An Educational Ultrasound Image.

Atrioventricular canal defect results from an abnormal or inadequate fusion of the superior and inferior endocardial cushions. Both the complete and partial types of the defect are associated with the ostium primum defect in the lowermost portion of the atrial septum, left ventricular outflow narrowing and the atrioventricular valve abnormalities. The clinical diagnosis of partial atrioventricular canal defect can be confirmed by cardiac ultrasound. The aim of this paper is to preset an educational ultrasound image of partial atrioventricular canal defect.

Partial Atrioventricular Canal Defect: An Educational Ultrasound Image

Partial Atrioventricular Canal Defect: An Educational Ultrasound Image

Partial atrioventricular canal defect: An educational ultrasound image

Atrioventricular canal defect results from an abnormal or inadequate fusion of the superior and inferior endocardial cushions. Both the complete and partial types of the defect are associated with the ostium primum defect in the lowermost portion of the atrial septum, left ventricular outflow narrowing and the atrioventricular valve abnormalities. The clinical diagnosis of partial atrioventricular canal defect can be confirmed by cardiac ultrasound. The aim of this paper is to preset an educational ultrasound image of partial atrioventricular canal defect.

Robotic Surgery for Pediatric and Congenital Cardiac Disease

Onan and Onan are to be congratulated for their thoughtful analysis of 242 patients undergoing robotically assisted congenital cardiac surgery published in this issue of The Annals of Thoracic Surgery.1 Mean age was 30.9 ± 12.1 years (range, 12-65 years). Thirty (12.3%) patients were younger than 18 years. In adolescents, median age was 16 years (range, 12-17 years) and median weight was 64 kg (range, 42-108 kg). Lesions repaired included secundum atrial septal defect (ASD) (74.7%), sinus venous ASD (16.1%), partial anomalous pulmonary venous connections (10.7%), widely patent foramen ovale (3.7%), ostium primum defects (2.5%), unroofed coronary sinus (1.2%), partial atrioventricular canal defects (2.5%), residual septal defects after failed percutaneous closure (1.2%), ventricular septal defect (0.4%), cor triatriatum sinister (0.4%), subvalvular aortic stenosis (0.4%), common atrium (0.4%), and double-chambered right ventricle (0.4%).

Adult congenital heart diseases: experience from a reference center

Introduction Adult congenital heart disease (ACHD) represents a growing population in many cardiac centers and it's a challenge for all physicians involved. Multidisciplinary teams integrated by cardiologists, echocardiographers, cardiac surgeons, cardiac anesthesiologists, radiologists and others, have been created in many hospitals to manage such patients (1). The objective was to describe the adult congenital cardiac population scheduled for cardiac surgery in our reference center. Methods We included all patients scheduled for cardiac surgery with a diagnosis of ACHD from January 2017 to May 2018. A retrospective review of medical records was performed for demographics, type of heart defect, intraoperative management, postoperative evolution, ICU length of stay and outcome at 30 days. Results A total of 1060 patients underwent elective cardiac surgery between the study period. Sixty-six patients (6.22%) had the diagnosis of ACHD. Mean age was 53.5±17 years [range 19 to 85 years], 63.6% were male and mean EuroSCORE II was 1.51 [range 0.5 to 5.41]. Type and number of diagnoses were: bicuspid aortic valve 45 patients, atrial septal defect 12 patients, congenital pulmonary stenosis 2 patients, congenital aortic stenosis 1 patient, sub-aortic membrane 1 patient, right coronary artery anomaly 1 patient, single ventricle 1 patient, tetralogy of Fallot 1 patient, Ebstein's anomaly 1 patient and partial atrioventricular canal defect 1 patient. Eight of the 45 patient with aortic bicuspid valve had associated aortic root aneurysm. All patients were monitored with transesophageal echocardiography (TEE). Twenty-five patients (37.8%) were extubated in the operating room. Nine patients (13.6%) required blood products. Percentage of postoperative complications were: arrhythmias (28.7%), renal dysfunction (15.1%), hemorrhage >500ml at 24h (10.6%), respiratory alterations (7.5 %), neurologic events (4.5%), intubation >24h (4.5%), re-operation (3.03 %) and gastrointestinal problems (1.51%). Mean ICU length of stay was 3.27 days [range 1 to 9 days]. There was no mortality at 30 days. Discussion The incidence of ACHD in this review was low and bicuspid aortic valve was the most common anomaly. Operative cardiac risk and age showed a wide range. In this small sample post-operative complications were lower than reported in the literature (2). As reference center for ACHD now the number of complex cases is increasing mainly by those diagnosed and treated in the childhood and coming for a second or third operation.

Repair of partial atrioventricular canal defect in adult patients: two-year follow-up outcomes of a retrospective study

BackgroundPartial atrioventricular canal defects (PAVC) are preferred to be repaired when diagnosed and before an operation would interfere with school. There were rare previous studies about partial atrioventricular canal defect operations in adult patients. In this single-center retrospective study, we mean to review the mid-term follow-up outcomes of late diagnosed and repaired partial atrioventricular canal defects in adult patients.Methods46 adult partial atrioventricular canal defect patients who underwent operation in West China Medical Center from 2009 to 2017 were included. Required data were obtained from operation notes, patient charts and the outpatient records.ResultsAmong 46 patients, 10(21.7%)were male and mean age at operation was 37.6 ± 12.4 years. 11 patients had prior arrythmia, including 8 atrial fibrillations, 2 atrioventricular blocks and 1 left bundle branch block. There were 41 patients with tricuspid valve regurgitation and 22 underwent tricuspid valvuloplasty. All the patients had mitral regurgitation. 6 patients with valve incrassation and shrinkage underwent mitral valve replacement, and the rest underwent mitral repair surgery. There was one early death post operation and no more mortalities in the following follow-up years. According to the follow-up outcomes, heart function of the patients recovered significantly, dilation of atriums and ventricles, except for left atriums, were reversed to a large extent and all but one patients’ tricuspid valve regurgitations were reduced to mild and below. 4(8.7%) patients underwent reoperation and the main reasons were arrythmia and recurrent severe mitral valve regurgitation.ConclusionPartial atrioventricular canal defect repair in adult patients can achieve good results. Compared with the results of patients underwent operations in preschool years, though delayed surgery timing seems to bring more preoperative complications and influences heart function, the mortality and reoperation rate are excellent.

Australian women's health literacy and complex decision-making to use complementary medicines in pregnancy and lactation – a qualitative investigation

This study reports a case of partial atrioventricular canal defect with an anomalous left circumflex coronary artery in an elderly veteran presenting with unexplained dyspnea on exertion. This is a rare finding in this population and emphasizes the importance of a broad differential diagnosis and meticulous evaluation when more common conditions have been excluded. (Level of Difficulty: Intermediate.)

Sacubitril/Valsartan in Adult Congenital Heart Disease Patients With Chronic Heart Failure − A Single Centre Case Series and Call for an International Registry

An improvement in life expectancy in patients suffering from adult congenital heart disease (ACHD) has corresponded with a rise in heart failure incidence within this group. An area that has not been addressed in ACHD heart failure guidelines has been the use of combined inhibition of angiotensin receptor-neprolysin pathways. This case series sought to demonstrate tolerability and 6-month outcome measures of sacubitril/valsartan use in ACHD patients with a severely impaired systemic ventricle. A prospective cohort analysis of ACHD patients between December 2016 and September 2017 with severe systemic ventricular systolic dysfunction, New York Heart Association (NYHA) class II-III symptoms and eligible for commencement on a sacubitril/valsartan regime was undertaken. Five (5) consecutive patients were included in this cohort review, 80% male, mean age 41.8 (±19) years and mean systemic ventricular ejection fraction 27% (±3.6%). Two (2) patients with pre-existing D-TGA and atrial baffle repair, one patient with Tetralogy of Fallot repair and pulmonary valve replacement (PVR), one patient with left atrial isomerism and partial atrioventricular (AV) canal defect repair and mitral valve replacement (MVR) and the last patient had biventricular repair for pulmonary atresia with MVR and PVR. Forty per cent (40%) of patients had a systemic right ventricle. All patients had NYHA functional class of ≥II, were on optimal tolerated doses ACE-I or ARB prior to sacubitril/valsartan combination. Six (6) months post commencement of sacubitril/valsartan patients experienced a mean improvement of one functional class. Our experience suggests that sacubitril/valsartan therapy is well tolerated in ACHD heart failure patients and is associated with improvement in functional class.

Pulmonary Autograft Mitral Valve Replacement (Ross II): Long-Term Follow-Up of a US Center.

Mitral valve replacement (MVR) with a pulmonary autograft (Ross II) may be a useful technique for pediatric and young adult patients who wish to avoid anticoagulation. Our aim was to evaluate the long-term outcomes of the Ross II procedure at our institution. Patients undergoing the Ross II procedure between June 2002 and April 2008 were included. Preoperative diagnoses included rheumatic disease (n = 5), congenital mitral valve (MV) pathology (partial atrioventricular canal defect [n = 2], complete atrioventricular canal defect [n = 1], Shone's complex [n = 1]), and myocarditis (n = 1). Ten patients (eight females and two males) between 7 months and 46 years were included. Mean age at surgery was 25.2 ± 15.7 years. There were no in-hospital deaths. Mean follow-up was 11.7 ± 5.2 years. There were three late deaths at 11 months, 5 years, and 11 years, respectively. Causes of death included right heart failure, sepsis, and sudden cardiac arrest. Three patients required subsequent mechanical MVR a median of two years after the Ross II procedure (range: 1-4 years). There was no mortality with reoperation. Echocardiographic follow-up demonstrated mean MV gradients ranging from 2.2 to 9.6 mm Hg. Two patients had greater than mild MV regurgitation postoperatively, and all others had minimal mitral regurgitation or less. Two patients developed moderate MV stenosis. The Ross II procedure is an option for select older children and young adults desiring a durable tissue MVR to avoid long-term anticoagulation.

Invited Commentary

Invited Commentary

Congenital heart defects in Noonan syndrome and RIT1 mutation

To the Editor: We read with great interest the article by Kouz et al.1.Kouz K, Lissewski C, Spranger S, et al. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med e-pub ahead of print 21 April, 2016.Google Scholar reporting on genotype–phenotype correlations of patients with Noonan syndrome (NS) heterozygous for RIT1 mutations. The authors performed an exhaustive analysis of the features associated with mutations in this gene, which was recently described as a new causative gene for the syndrome and accounts for approximately 5–10% of the total cases of NS cases. Cardiac and extracardiac features of this new subset of patients were discussed by Kouz et al.,1.Kouz K, Lissewski C, Spranger S, et al. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med e-pub ahead of print 21 April, 2016.Google Scholar and clinical characteristics of patients with RIT1 mutation were compared to those found in patients with mutations in other genes known to be related to RASopathies. We report here a few additional details regarding the cardiac phenotype in this subgroup of patients. Among our series of 161 patients with a molecularly confirmed diagnosis of RASopathy, 9 patients (6%) with a clinical diagnosis of NS carrying a missense RIT1 mutation were recently identified. Congenital heart defects in this subgroup of patients are seen in 100% of patients, which is in line with the data reported by Kouz et al.1.Kouz K, Lissewski C, Spranger S, et al. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med e-pub ahead of print 21 April, 2016.Google Scholar Consistent with the published data, pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect (ASD), and ventricular septal defect (VSD) were reported in our subjects with RIT1 mutations. One patient in our cohort had partial atrioventricular canal defect (pAVCD). Four patients in our series presented HCM. Two of them had an obstructive HCM (oHCM), which was associated with subaortic stenosis and pulmonary valve stenosis in one patient who required an orthotopic heart transplant during the first year of life due to the severity of the cardiac phenotype, which was unresponsive to extensive medical treatment. These data confirm what was previously reported by Colan et al.,2.Colan S.D. Lipshultz S.E. Lowe A.M. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry.10.1161/CIRCULATIONAHA.106.621185Circulation. 2007; 115: 773-781Google Scholar as well as our unpublished data, documenting that patients with an early-onset HCM phenotype (younger than 2 years of age), particularly in cases of biventricular obstructions, have poor prognoses. Based on these considerations, HCM in NS subjects with a RIT1 gene mutation should be carefully evaluated, particularly if it occurs in early childhood. Four patients had pulmonary valve stenosis with a typical thickened and dysplastic valve. The supravalvular region was involved in the lesion in all of them, as generally reported in NS. To the best of our knowledge, our patient with pAVCD is the first diagnosed with RIT1 mutation. This observation confirms the high prevalence of AVCD previously noted in RASopathies and not only in association with PTPN11 and RAF1 mutations.3.Digilio M.C. Romana Lepri F. Dentici M.L. Atrioventricular canal defect in patients with RASopathies.1:CAS:528:DC%2BC3sXht1Cks7s%3D10.1038/ejhg.2012.145Eur J Hum Genet. 2013; 21: 200-204Google Scholar Finally, lymphatic anomalies were present in three out of the nine patients in our cohort, including chylothorax in two subjects and lymphedema of the lower limbs in one. Chylothorax was persistent in both children and required postoperative drainage. These data confirm the relevant role of RIT1 mutations in early-onset and late-onset lymphatic complications, which could lead to significant postoperative morbidity in these subjects. In conclusion, the prevalence of congenital heart defects in patients carrying heterozygous RIT1 mutations is high and a great variety of anatomic types can be observed, including HCM, which can be particularly severe. Finally, complications due to lymphatic anomalies should also be taken into consideration. The authors declare no conflict of interest.

Combination of Left Ventricular Noncompaction and Partial Atrioventricular Canal Defect in a 21-Year-Old Male: A Case Report

IntroductionLeft ventricular noncompaction (LVNC) is classified as a genetic cardiomyopathy characterized by a progressive systolic dysfunction. It may occur alone or in association with congenital cardiac anomalies. The combination of left ventricular noncompaction with partial atrioventricular canal defect is rare and has not, to our knowledge, been described previously.Case presentationA 21-year-old male who traveled to our center from a neighboring country presented with signs of heart failure. Transthorarcic echocardiography showed prominent trabeculations in the left ventricle predominantly in the left ventricle involving the apical lateral and mid anterolateral segments associated with a partial atrioventricular canal defect. There was a biventricular systolic dysfunction. There was good response to medical treatment.ConclusionThis case stresses the importance of maintaining a high degree of suspicion for this rare cardiomyopathy and the need to systematically look for other associated anomalies in order to institute proper short- and long-term managements.

Repair of simple congenital cardiac defects via lower ministernotomy, using standard instruments

In the current scenario the costs of performing minimally invasive cardiac surgery are very high primarily due to the high cost of hardware used, limiting its widespread usage especially in a developing country like ours. The aim of our study was to test the feasibility and safety of performing minimally invasive surgery to repair simple congenital cardiac defects using standard equipment. From July 2011 to March 2012, 59 patients, weighing between 7 kg to 32 kg underwent closure of their defects via lower ministernotomy. Forty six cases were Ostium Secundum Atrial Septal Defect (OSASD), four cases had OSASD with Valvar Pulmonary Stenosis (PS), five cases of moderate Ventricular Septal Defect (VSD), three cases of Sinus Venosus Atrial Septal Defect (SVASD) and one case of Partial AtrioVentricular Canal Defect (PAVCD). All patients underwent central canulation of aorta and vena cava. Standard cannula and instruments were used during the procedure. The length of the postoperative scar measured ranged from 3.5 to 8 cm. One SVASD was converted to complete sternotomy because of high drainage of the Partial Anomalous Partial Venous Connection (PAPVC). None of the patients had any emergency conversion, re-exploration or neurological side effects. One patient had a tiny residual VSD and another patient had a pericardial effusion that required drainage. Repair of most simple congenital cardiac defects can be safely performed through a lower ministernotomy approach. The procedure resulted in a cosmetically appealing scar and decreased patient morbidity without using any special expensive instruments.

Atrioventricular canal defect in patients with RASopathies

Congenital heart defects affect 60-85% of patients with RASopathies. We analysed the clinical and molecular characteristics of atrioventricular canal defect in patients with mutations affecting genes coding for proteins with role in the RAS/MAPK pathway. Between 2002 and 2011, 101 patients with cardiac defect and a molecularly confirmed RASopathy were collected. Congenital heart defects within the spectrum of complete or partial (including cleft mitral valve) atrioventricular canal defect were diagnosed in 8/101 (8%) patients, including seven with a PTPN11 gene mutation, and one single subject with a RAF1 gene mutation. The only recurrent mutation was the missense PTPN11 c.124 A>G change (T42A) in PTPN11. Partial atrioventricular canal defect was found in six cases, complete in one, cleft mitral valve in one. In four subjects the defect was associated with other cardiac defects, including subvalvular aortic stenosis, mitral valve anomaly, pulmonary valve stenosis and hypertrophic cardiomyopathy. Maternal segregation of PTPN11 and RAF1 gene mutations occurred in two and one patients, respectively. Congenital heart defects in the affected relatives were discordant in the families with PTPN11 mutations, and concordant in that with RAF1 mutation. In conclusion, our data confirm previous reports indicating that atrioventricular canal defect represents a relatively common feature in Noonan syndrome. Among RASopathies, atrioventricular canal defect was observed to occur with higher prevalence among subjects with PTPN11 mutations, even though this association was not significant possibly because of low statistical power. Familial segregation of atrioventricular canal defect should be considered in the genetic counselling of families with RASopathies.

An Uncommon Course of the Right Superior Vena Cava in a Patient With Heterotaxy Syndrome

We present the case of an infant with congenital heart disease which includes a partial atrioventricular canal defect with the absence of the atrial septum (common atrium) and an extremely uncommon course of the right-sided superior vena cava (SVC) including an intra-atrial segment coursing intramurally along the right posterolateral atrial wall, with an intracardiac orifice situated low within the right side of the atrium, close to the atrial orifice of the right hepatic veins. This feature of the anatomy was discovered intraoperatively at the time of surgical repair. Systemic venous anatomy also included interrupted inferior vena cava (IVC) with azygos continuation to a left-sided SVC draining directly into the left side of the atrium. The successful surgical procedure included tunneling of the left-sided SVC to the right side of the common atrium and atrial septation with a patch.

Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation

Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case of the EVC syndrome with postaxial polydactyly (Synpolydactyly with seven fingers on the right side and hexadactyly on the left side) and a partial atrioventricular canal defect diagnosed antenatally. This variation of EVS has not been reported in English literature till date.