Ventricular septal defect closure in a patient with VACTERL syndrome: anticipating sequelae in a rare genetic disorder.

Noncardiac components of genetic disorders can complicate the operative and postoperative courses of pediatric cardiac surgery patients. Prolonged hospital stay, increased treatment cost, morbidity, and death are more likely in this subgroup of patients. Ventricular septal defect, which is a component of various genetic disorders, has a 22.3% incidence in VACTERL syndrome--a rare, nonrandom pattern of birth defects. Herein, we discuss the impact of ventricular septal defect closure in a 4-month-old girl who was diagnosed after birth with VACTERL syndrome.

Multiple angiomatous mitral valve cysts leading to floppy mitral valve syndrome.

We report an extremely rare case of cystic-tumor like formations that originated from the mitral valve tissue affected by verrucous endocarditis, leading to floppy mitral valve syndrome. These cystic tumoral formations were discovered during two-dimensional echocardiographic examination of a 46 year-old woman with cardiac symptoms of palpitation, dyspnea, and exertional angina pectoris. Multiple cysts were attached to the anterior mitral leaflet, resulting in pansystolic pseudoparachute-like floppy mitral valve prolapse, and severe mitral regurgitation. The patient underwent prosthetic mitral valve replacement following removal of the mitral valve and multiple cystic-tumoral formations. She had an uneventful postoperative course. Histological diagnosis was diffuse angiomatous cystic development of vasculatory tumor-like structures due to verrucous endocarditis.

Surgical treatment of a giant postero-inferior left ventricular pseudoaneurysm causing severe mitral insufficiency and congestive heart failure.

INTRODUCTION: Left ventricular pseudoaneurysm caused by a transmural myocardial infarction is a fatal complication. Reliable diagnosis and on-time surgical intervention are significant for the patient's survival. METHODS/RESULTS: A 70-year-old diabetic man with a two-month earlier history of successful stent implantation on the proximal right coronary artery because of total occlusion was admitted to our institution with symptoms of congestive heart failure. Transthoracic echocardiogram showed severely decreased overall LV systolic function and a large aneurismal sac attached to the inferior surface of the left ventricle, moderate tricuspid regurgitation and severe mitral insufficiency. On transesophageal echocardiography examination and cardiac magnetic resonance imaging, the aneurismal cavity appeared to be entirely surrounded by thrombi. During the operation, a left ventricular postero-inferior pseudoaneurysm was observed to extend to the mitral annulus. Purse string suturing was used to reduce left ventricular volume, and the hole was closed with a Dacron patch. The patient was weaned from the CPB without any difficulty. The patient's postoperative period was uneventful, and his physical condition appeared to be very healthy (NYHA class I-II) after the first year. CONCLUSION: Following a myocardial infarction, a careful preoperative examination and proper way to diagnose are essential on patients with nonspecific complains or asymptomatic. Despite the risk of high mortality, patients may survive when they are diagnosed and undergo surgery at the right time.

Sequence variations of NKX2-5 and HAND1 genes in patients with atrial isomerism.

OBJECTIVE: Atrial isomerism is a congenital disorder, which is characterized by lateralization defects in normally asymmetrical developing organs like the heart. Atrial isomerism is supposed to be caused by molecular defects during early development. The NKX2-5 is a cardiac specific transcription factor, which initiates and regulates downstream transcriptional cascades of cardiogenesis. The HAND1 is another transcription factor expressed in the heart, and it is characterized by an asymmetrical pattern of expression. In this study, we aimed to test whether mutations in NKX2-5 and HAND1 genes play a role in the etiology of atrial isomerism. METHODS: This case-control study consisted of 70 patients who underwent surgical treatment for congenital heart defects including atrial isomerism, 80 healthy subjects (HAND1 gene) and 40 healthy subjects (NKX2-5 gene). All exons and exon-intron boundaries of NKX2-5 and HAND1 genes were analyzed by SSCP, and suspected samples were sequenced for mutation analysis. Digestion with appropriate restriction enzymes was performed for analysis of known mutations and polymorphisms. The frequencies of the alleles and the genotypes were compared among patient and control groups using the Chi-square and the Fisher tests when appropriate. RESULTS: In intronic region of HAND1 gene, we identified a C>G substitution both in patients and controls. Frequency of mutant allele (11, 42%) was found higher (p=0.046) in patient group than that of the control group (2.5%). Association between atrial isomerism and genotypes with mutant allele was found borderline significant (p=0.054). In NKX2-5 gene, we identified heterozygous Q170X (Gln170ter) mutation in one patient. We did not found any correlation between defined sequence variations and clinical properties of the patients. CONCLUSION: Our results suggest that mutations or sequence variations in HAND1 or NKX2-5 genes may play role in etiology or pathogenesis of atrial isomerism.

Single-institutional 22 years experience on cardiac myxomas.

Myxomas are the most common benign tumors of the heart. This study presents single-institutional 22 years experience on cardiac myxomas. The records of 9756 consecutive cases of open heart surgery between 1985 and 2007 revealed 0.23% myxoma. Age ranged between 12 and 77 years and male to female ratio was 7:17. Myxomas originated from the left atrium (15 patients), mitral valve (3 patients), right atrium (2 patients), right atrium and right ventricle (2 patients), right ventricle (1 patient), and left ventricle (1 patient). Three patients were operated for multiple myxomas. Myxomas were resected through right atriotomy, right atriotomy and pulmonary arteriotomy, left atriotomy, biatrial approach, or left ventriculotomy depending on the tumor location. Mean follow-up time was 11.5 years. Mortality occurred in 6 patients (1 early, 5 late deaths). No myxoma recurrence was detected. Myxomas should be resected leaving no remnant mass, without delay when they are diagnosed.

Pulmonary stenosis as a predisposing factor for infective endocarditis in a patient with Noonan syndrome.

Noonan syndrome is an autosomal dominant dysmorphic syndrome. Pulmonary stenosis is the most common cardiac anomaly in Noonan patients, with an incidence of 60%. A 9-year-old girl was referred to our institution with pericardial effusion. Transthoracic echocardiography indeed confirmed massive pericardial effusion and revealed, further, valvular and arterial pulmonary vegetations that accompanied a dysplastic tricuspid pulmonary valve. We decided to perform emergency pericardial tube drainage and to continue the anti-biotic regimen for 2 more weeks before undertaking open-heart surgery. After 2 weeks, the patient underwent an operation wherein the valvular vegetations were excised and a pulmonary valve commissurotomy was performed, yielding a competent pulmonary valve with 3 distinct but moderately dysplastic cusps. In addition to the pulmonary valve, the main, left, and right pulmonary arteries were filled with mobile vegetations, which were removed during the procedure. In this patient, a dysplastic and stenotic pulmonary valve may have contributed to the progression of endocarditis and to the growth of vegetations that occupied the pulmonary arteries. In conclusion, we hypothesize that although pulmonary stenosis is not considered a common predisposing factor for infective endocarditis, it can contribute to the progression of infective endocarditis in Noonan patients.