Search results for " congenital"
showing 10 items of 179 documents
Prenatal diagnosis of congenital cystic adenomatoid malformation using three-dimensional inversion rendering: A case report
2008
We report a case of a congenital cystic adenomatoid malformation of the lung (CCAM). At 12 weeks of gestation, an echogenic lung associated to a hydrothorax was detected. Despite the results of the combined test that informed of a high risk of chromosomopathy, normal karyotype was confirmed after an amniocentesis. The three-dimensional ultrasound inversion mode depicted all the cysts within the fetal lungs as opaque areas that were seen concurrently together, which was compatible with CCAM. After parental counseling, the patient opted to terminate the pregnancy at 18 weeks. Pathological analysis of the lungs confirmed the diagnosis of a CCAM type II. The recent advent of the three-dimension…
Effect of aneurysm on the mechanical dissection properties of the human ascending thoracic aorta
2012
Objectives: The acute dissection of an ascending thoracic aortic aneurysm (ATAA) represents a devastating separation of elastic layers occurring when the hemodynamic loads on the diseased wall exceed the adhesive strength between layers. At present, the mechanics underlying aortic dissection are largely unclear, and the biomechanical delamination properties of the aneurysmal aorta are not defined. Individuals with bicuspid aortic valve (BAV) are particularly predisposed to ascending aortic aneurysm formation, with a marked risk of aortic dissection. The purpose of this study was to evaluate and compare the dissection properties of nonaneurysmal and aneurysmal human ascending thoracic aorta …
Cardiac Magnetic Resonance with Delayed Enhancement of the Right Ventricle in patients with Left Ventricle primary involvement: diagnosis and evaluat…
2020
: Cardiac Magnetic Resonance (CMR) allows an accurate Right Ventricle (RV) assessment that could be of great relevance in diseases causing inflammation or fibrosis. The aim of this study was to evaluate the concomitant involvement of the RV in patients with delayed enhancement (DE) of the Left Ventricle (LV-DE) using CMR. We retrospectively enrolled 95 (male n. 66; age 55±18years; BMI 26±5kg/m2) consecutive patients with LV-DE who underwent a CMR (Achieva 1.5 T, Philips) for different indications: post-ischemic dilated cardiopathy (PDM), hypertrophic cardiomyopathy (HCM), myocardial infarction (MI), myocarditis/pericarditis (MP) and congenital heart disease (CD). We assessed the presence an…
Supraventricular arrhythmias in noncompaction of left ventricle: Is this a frequent complication?
2008
Background: Isolated left ventricular noncompaction is the result of incomplete myocardial morphogenesis, leading to persistence of the embryonic myocardium. The condition is recognised by an excessively prominent trabecular meshwork and deep intertrabecular recesses of the left ventricle. Whether these intertrabecular recesses are a favorable substrate for supraventricular arrhythmias is unclear, even if the incidence of chronic heart failure seems to be high. Results: We evaluated a continuous series of 238 patients affected by noncompaction. In 4 cases the patients reported palpitations and in 4 an episode of syncope. Periodic holter monitoring was performed every 6 months for 4 years. O…
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no eviden…
2013
BACKGROUND Esophageal atresia with/without trachea-esophageal fistula (EA/TEF) denotes a spectrum of severe congenital malformations. The aim of this systematic study was to determine both the recurrence risk for EA/TEF, and the risk for malformations of the VATER/VACTERL association spectrum, in first-degree relatives of patients with isolated EA/TEF. METHODS A total of 108 unrelated patients with isolated EA/TEF were included. These individuals had 410 first-degree relatives including 194 siblings. The presence of EA/TEF and malformations of the VATER/VACTERL association spectrum in relatives was systematically assessed. Data from the EUROCAT network were used for comparison. RESULTS None…
The Fontan-Operation: From Intra- to Extracardiac Procedure
2003
Purpose For treatment of univentricular heart, the Fontan operation has been established as the definitive palliation. The current controversy is mainly based on the high incidence of arrhythmias after an intra-atrial lateral tunnel Fontan operation. Methods From January 1995 until April 2002. 46 children underwent a Fontan-type operation with or without a small fenestration. In 33 patients (group I) an Intracardiac tunnel and in 13 patients (group II) an extracardiac conduit procedure was performed. Principal findings There was no perioperative mortality. All patients showed postoperative a significant increase of arterial oxygen saturation, from 76 to 86% after surgery with fenestration, …
Microdeletion 22q11 in complex cardiovascular malformations.
1997
Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA p…
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
2011
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes
2020
PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular non-compaction (LVNC) with a PRDM16 variant. The third-trimester obstetric ultrasound revealed a hydropic fetus with hydramnios and expanded hypokinetic heart. After termination of pregnancy, foetopathology showed a eutrophic fetus with isolated cardiomegaly. Endocardial fibroelastosis was associated with non-compaction of the myocardium of the left ventricle. Exom…
Quantitative criteria for the diagnosis of the congenital absence of pericardium by cardiac magnetic resonance
2015
Congenital absence of the left ventricular pericardium (LCAP) is a rare and poorly known cardiac malformation. Cardiac Magnetic Resonance (CMR) is generally used for the diagnosis of LCAP because of its high soft tissue contrast, multiplanarity and cine capability, but the diagnosis is usually made by only qualitative criteria. The aim of the present study was to establish quantitative criteria for the accurate diagnosis of LCAP on CMR.We enrolled nine consecutive patients affected by LCAP (mean age 26±8years, 7 males), 13 healthy controls, 13 patients with dilated cardiomyopathy (DCM), 12 patients with hypertrophic cardiomyopathy (HCM) and 13 patients with right ventricular overload (RVO).…