Surgery for Complex forms of Atrioventricular Septal Defect: Early Survival and Probability of Cure

Atrioventricular Septal Defects (AVSD) account for 7.4% of Congenital Heart Defects (CHD). They may occur in isolation, with a narrow spectrum of age at presentation and prognosis, or in association with other intracardiac malformations: here symptoms and needs for treatment vary considerably. Moreover, their frequent association with abnormal genetic disorders, such as Trisomy 21 or Heterotaxy, further complicates the task of surgical treatment. Analysing the data is seemingly complex: some associations are exceedingly rare, while in other more common morphologies, the approach is variable and controversial. Although results have greatly improved in the last decades, early and late survival remains suboptimal, sometimes poor. Early mortality greatly varies, along with complexity of pathophysiology and repair, from 5% to over 30%. The dilemma between high operative risk and palliation of the univentricular type is at times daunting. The possibility of surgical cure is discussed according to surgical options but the frequent need for reintervention makes hope elusive. Late survival greatly differs, from 45% to 80% at 5-year follow-up. It is hardly surprising, in the western type of society, that prenatal diagnosis should result in a high rate of termination of pregnancy. This holds particularly true when a chromosomal abnormality is also identified

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

Atrioventricular canal defect (AVCD) is a common congenital heart defect (CHD), representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly. The AVCD is associated with extracardiac defects in about 75% of the cases. In this review we analyzed different syndromic AVCDs, in particular those associated with polydactyly disorders, which show remarkable genotype-phenotype correlations. Chromo - some imbalances more frequently associated with AVCD include Down syndrome, deletion 8p23 and deletion 3p25, while mendelian disorders include Noonan syndrome and related RASopathies, several polydactyly syndromes, CHARGE and 3C (cranio-cerebello-cardiac) syndrome. The complete form of AVCD is prevalent in patients with chromosomal imbalances. Additional cardiac defects are found in patients affected by chromosomal imbalances different from Down syndrome. Left-sided obstructive lesions are prevalently found in patients with RASopathies. Patients with deletion 8p23 often display AVCD with tetralogy of Fallot or with pulmonary valve stenosis. Tetralogy of Fallot is the only additional cardiac defect found in patients with Down syndrome and AVCD. On the other hand, the association of AVCD and tetralogy of Fallot is also quite characteristic of CHARGE and 3C syndromes. Heterotaxia defects, including common atrium and anomalous pulmonary venous return, occur in patients with AVCD associated with polydactyly syndromes (Ellis-van Creveld, short rib polydactyly, oral-facial-digital, Bardet-Biedl, and Smith-Lemli-Opitz syndromes). The initial clinical evidence of anatomic similarities between AVCD and heterotaxia in polydactyly syndromes was corroborated and explained by experimental studies in transgenic mice. These investigations have suggested the involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly and heterotaxia, and ciliary dysfunction was detected as pathomechanism for these disorders. Anatomic differences in AVCD in the different groups are probably due to different genetic causes

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient follow-up management, a homogeneous Italian cohort of 364 subjects affected by OI types I-IV was evaluated. The study population was composed of 262 OI type I, 24 type II, 39 type III, and 39 type IV patients. Three hundred and nine subjects had a type I collagen affecting function mutations (230 in α1(I) and 79 in α2(I)); no disease-causing changes were noticed in 55 patients. Compared with previous genotype-phenotype OI correlation studies, additional observations arose: a new effect for α1- and α2-serine substitutions has been pointed out and heart defects, never considered before, resulted associated to quantitative mutations (P = 0.043). Moreover, some different findings emerged if compared with previous literature; especially, focusing the attention on the lethal form, no association with specific collagen regions was found and most of variants localized in the previously reported "lethal clusters" were causative of OI types I-IV. Some discrepancies have been highlighted also considering the "50-55 nucleotides rule," as well as the relationship between specific collagen I mutated region and the presence of dentinogenesis imperfecta and/or blue sclera. Despite difficulties still present in defining clear rules to predict the clinical outcome in OI patients, this study provides new pieces for completing the puzzle, also thanks to the inclusion of clinical signs never considered before and to the large number of OI Italian patients

Hematocrit: another important factor in systemic neonatal cardiovascular adaptation

Background: Global cardiovascular adaptation of normal healthy term newborns is rarely studied from a multiorgan and hematological point of view. Aims: To evaluate comprehensive neonatal cardiovascular adaptation during the first days of life with echocardiography and renal-cerebral echo color-Doppler and to correlate it with hematocrit (Ht) changes. Study design: A prospective observational study was conducted on 35 healthy term neonates with a mean ± SD gestational age and birth weight of 39.5 ± 1.1 weeks and 3,400 ± 330 g, respectively. All infants underwent serial echocardiograms at 15 ± 4 hours (day 1) and 72 ± 4 hours (day 3) of age. At the same time, cerebral and renal Doppler parameters were acquired and Ht was sampled. Results: The weight and Ht declined by 220 g (189-251) and 8.1% (6.7-9.5), respectively. Systolic and diastolic diameters of the right ventricle and diastolic left ventricle posterior wall thickness showed a reduction, while the diastolic diameter of the left ventricle showed a small increase. The Doppler cardiac evaluation showed an increase in the mitral E/A ratio and pulmonary acceleration time, a reduction of late transmitral flow peak velocity, aortic peak systolic velocity (PSV), aortic peak systolic pressure gradient, aortic velocity-time integral, aortic mean pressure gradient and pulmonary mean acceleration. We also found a reduction of cerebral resistance parameters and an increase in PSV, end-diastolic velocity, and time-averaged velocity. Other measured parameters remained unchanged. Conclusion: Systemic cardiovascular evaluation about changes in Ht is an essential approach to study newborns, especially during the first days of life when Ht shows a significant decrease. Knowledge of the laws of physics related to the effect of Ht changes on vascular parameters is another important factor in understanding the pathophysiology of neonatal disease states. Further studies are useful to help physicians make evidence-based decisions in the management of newborns in Neonatal Intensive Care Units (NICUs)

Congenital superior caval vein aneurysm in a newborn with cystic lymphangioma: a rare case report

Dilatation of the superior caval vein is extremely rare, with few cases described among newborns. The association of aneurysm of the superior caval vein and lymphatic malformation is extremely uncommon. We report a case of a female infant with a prenatal diagnosis of superior caval vein aneurysm presenting at birth with a neck mass that was found to be a cystic lymphangioma

Isolated Cleft of the Mitral Valve: Its Pathogenic Relationship with Endocardial Cushion Defects

[No abstract available

Surgical results in patients with cardiac defects and del 22q11.2 Syndrome

[No abstract available