Ellis van Creveld syndrome: An unusual presentation at birth

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

Late survival in Ellis-van Creveld syndrome with common single atrium

Ellis-van Creveld (EVC) syndrome is a relatively rare chondroectodermal dysplasia considered mainly as a generalised disorder of the maturation of endochondral ossification. Congenital heart disease occurs in approximately half of the patients with EVC syndrome, 60% of which is a common atrium. Common atrium is a rare variety of interatrial communication characterised by absence or virtual absence of the atrial septum. Patients with this syndrome rarely survive to an old age. We report a case of EVC who presented for the first time at 60 years of age, as survival to an advanced age is exceptional in case of EVC.

Use of echocardiographic parameters of longitudinal mechanics to estimate diastolic function of systemic ventricle in patients after fontan operation

Objective. To study the possibilities of using echocardiographic parameters of longitudinal mechanics to assess the diastolic function of the systemic ventricle (SV) in patients after Fontan operation. Material and methods. We examined 29 children aged 8,6 3,16 years with a functionally single ventricle of the heart after performing a total cavopulmonary connection with fenestration of extracardiac conduit. By computed tomography there were evaluated: myocardial mass index (MMI) SV, ejection fraction (EF) SV, cardiac output (CO) SV, cardiac index (CI) SV. In addition to conventional echocardiographic (Echo) parameters, we also studied: diastolic velocity parameters of the longitudinal mechanics of the SV during the early rapid filling phase (SR E), in the phase of late diastolic filling (SR A), the ratio of the peaks of the strain rate (SR E/SR A), the stiffness index of a functionally single atrium, the atrial strain in conduit phase (AS cd), reservoir (ASr), and in the contractile phase (AS ct). Results. Reduced values of the SI, CO and CI SV, an increase in MMI SV, normal values of EF SV. The parameters of the longitudinal diastolic strain rate in the early and late filling phases of e SV showed a direct significant correlation with SI, CO and CI SV and inverse correlation with E/e '. Parameters of longitudinal strain of the functionally single atrium in all phases were reduced, they all correlated with E / e, SR E / SR A, MMI SV, SI, CO and CI SV. There was no statistically significant relationship between the parameters of the longitudinal function of the atrium in all phases and atrial stiffness with sex and body surface area. Conclusions. 1. The parameters of the longitudinal diastolic strain rate can be used to identify the diastolic dysfunction of the systemic ventricle in children after Fontan operation. 2. The hemodynamic parameters of the systemic ventricle (stroke index, cardiac output, cardiac index) determine the parameters of its diastolic mechanics. 3. The reservoir, conduit, and contractile atrial function in patients after total cavopulmonary connection are associated with both characteristics of diastolic longitudinal strain rate and hemodynamic parameters of systemic ventricle.

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.