Clinical Presentation and Therapy of Atrioventricular Septal Defect.

Atrioventricular septal defects (AVSDs) consist of a number of cardiac malformations that result from abnormal development of the endocardial cushions. AVSDs occur in 0.19 of 1000 live births and constitute 4-5 % of congenital heart defects. AVSDs can be categorized as incomplete (or partial) or complete, and intermediate or transitional.

Molecular Pathways and Animal Models of Atrial Septal Defect.

The relative simplicity of the clinical presentation and management of an atrial septal defect belies the complexity of the developmental pathogenesis. Here, we describe the anatomic development of the atrial septum and the venous return to the atrial chambers. Experimental models suggest how mutations and naturally occurring genetic variation could affect developmental steps to cause a defect within the oval fossa, the so-called secundum defect, or other interatrial communications, such as the sinus venosus defect or ostium primum defect.

Absent right superior vena cava with left superior vena cava draining into unroofed coronary sinus with common atrium in a child with an atrioventricular septal defect.

The association of absent right superior vena cava and persistent left superior vena cava draining into unroofed coronary sinus with common atrium and the atrioventricular septal defect is an extremely rare form of the congenital cardiac disorder with only one case reported so far, hence, can be missed preoperatively if not carefully looked for. Failure to detect absent right superior vena cava beforehand may otherwise pose difficulties in carrying out invasive surgical or medical interventions.

Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt-Oram syndrome.

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We investigated a Chinese family with clinical features suggestive of HOS. Clinical examinations revealed that both the proband and his father had anomalies in the upper limbs and heart. The proband had a rare common atrium. Whole exome sequencing detected a novel small-insertion mutation (c.680_681insCTGAGAATAAT; p.Ile227fs∗) in TBX5 gene, the known disease gene for HOS. The mutation cosegregated with HOS phenotypes in the family and was predicted to cause frameshift, resulting in a truncated protein. In this study, we described a rare HOS case with common atrium. A novel small-insertion in TBX5 coding sequence was identified and speculated to be the disease-causing genetic variant in the family. Our finding expands the clinical feature spectrum and genetic aetiology spectrum of HOS.

Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis-Van Creveld syndrome.

Ellis-van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 genes. The four principal manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. We describe the case of a 7-year-old girl with Ellis-van Creveld Syndrome with the diagnosis of common atrium and partial atrioventricular septal defect. She underwent a successful surgical repair, and intraoperatively, a double orifice mitral valve was diagnosed as well. The correct diagnosis of this disorder in early life is essential in the overall prognosis of the syndrome. Clinical follow-up at regular intervals is very important in these patients to institute proper managements and prevent further complications.

Single Atrium and Miscarriages.

Background A single atrium is a very rare heart condition, in which the inter atrial septum is missing. These congenital heart defects usually are surgically corrected after birth. Case Presentation We present a successful surgical repair of a single atrium (SA) in a 27-year-old woman, who has a complete missing of the atrial septum, without coexisting valvular pathology. The SA diameter was 9.97 × 6.18 cm and the Systemic blood flow/pulmonary blood flow (Qp/Qs) was 4.1 due to the single atrium. Surgical correction consisted of creating a new atrial septum, using a double-velor patch. At first- and second-year follow up, the patient was in a very good condition and without any symptoms present. We consider that the diagnoses of single atrium, especially in child bearing women, should be done in appropriate time, to avoid miscarriages, preterm births and other complications associated. Conclusion There are many case reports that show good surgical repair of single atrium and without late complications. In our case, we have obtained a very good surgical repair, without AV bundle damage and no residual shunt demonstrated on intraoperative transesophageal echocardiography.

Three-Chambered Heart (Single Atrium) - A Rare Entity.

Single atrium (SA) is one of the rare congenital anomalies in which there is a complete absence of the atrial septum without an endocardial cushion defect associated with the absence of malformation of the atrioventricular (AV) valves. The term "common atrium" is used to denote the condition where there is a complete absence of the atrial septum or it is represented by a small strand of tissue present at the superior atrial wall of the common chamber, absence of interventricular communication, and accompanying AV cushion defect. Our patient demonstrated typical echocardiographic features of three-chambered heart (SA), which is a rare entity.

Cor triatriatum with Raghib complex in partial atrioventricular septal defect and common atrium: a rare combination.

Persistent left superior vena cava draining into the left atrium in the absence of coronary sinus and atrial septal defect (Raghib complex) is an uncommon anomaly of systemic venous drainage. We present a unique case of simultaneous presentation of cor triatriatum and persistent left superior vena cava draining into the left atrium in an adult female with partial AV canal and common atrium. Complex intra-atrial baffling including a procedure to redirect flow from a proximal atrial chamber was successful.

Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome.

Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian child who was admitted for cyanosis and acute heart failure. On clinical examination, he presented with typical features of EvC, cyanosis and dyspnea. EvC was confirmed by genetic tests, and echocardiography showed a partial atrioventricular canal defect with supra-systemic pulmonary artery pressure. The patient was treated; however, the evolution was fatal.

A case of single atrium and single ventricle physiology with bilateral cleft lip and palate for lip repair surgery.

Bilateral cleft lip and palate may occasionally be associated with complex congenital cyanotic heart disease. An infant with common atrium and single ventricle with infundibular pulmonary stenosis (Blalock-Taussig shunt done recently) presented for lip repair surgery. Balanced general anesthesia was administered using sevoflurane along with a regional nerve block to maintain optimal pulmonary and systemic vascular resistance.