Tatiana Diehl Zen

Congenital heart disease and chromossomopathies detected by the karyotype

Objective: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. Data sources: Scientific articles were searched in MEDLINE database, using the descriptors “karyotype” OR “chromosomal” OR “chromosome” AND “heart defects, congenital”. The research was limited to articles published in English from 1980 on. Data synthesis: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted

Chromosomal abnormalities in patients with congenital heart disease.

Background Chromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD). Objective Determine the frequency, types and clinical characteristics of CAs identified in a sample of prospective and consecutive patients with CHD. Method Our sample consisted of patients with CHD evaluated during their first hospitalization in a cardiac intensive care unit of a pediatric referral hospital in Southern Brazil. All patients underwent clinical and cytogenetic assessment through high-resolution karyotype. CHDs were classified according to Botto et al. Chi-square, Fisher exact test and odds ratio were used in the statistical analysis (p < 0.05). Results Our sample consisted of 298 patients, 53.4% males, with age ranging from 1 day to 14 years. CAs were observed in 50 patients (16.8%), and 49 of them were syndromic. As for the CAs, 44 (88%) were numeric (40 patients with +21, 2 with +18, 1 with triple X and one with 45,X) and 6 (12%) structural [2 patients with der(14,21), +21, 1 with i(21q), 1 with dup(17p), 1 with del(6p) and 1 with add(18p)]. The group of CHDs more often associated with CAs was atrioventricular septal defect. Conclusions CAs detected through karyotyping are frequent in patients with CHD. Thus, professionals, especially those working in Pediatric Cardiology Services, must be aware of the implications that performing the karyotype can bring to the diagnosis, treatment and prognosis and for genetic counseling of patients and families.

Trisomy 18 and eye anomalies

Trisomy 18 and Eye Anomalies Jamile D. Correia, Ernani B. da Rosa, Dani elle B. Silveira, Elisa P. E. Correia, Marina B. Lorenzen, Giovanni M. Travi, Rosana C. M. Rosa, Paulo R. G. Zen, Tatiana D. Zen, and Rafael F. M. Rosa* Graduate Program in Pathology, Universidade Federal de Ciências da Sa ude de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil Pediatric Ophthalmology, Hospital da CrianS ca Santo Antônio (HCSA)/Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil Graduate Program in Biosciences, UFCSPA, Porto Alegre, RS, Brazil Clinical Genetics, UFCSPA and CHSCPA, Porto Alegre, RS, Brazil Pharmacy, Faculdade de Ciências da Sa ude, Centro Universit ario Ritter dos Reis—UniRitter, Porto Alegre, RS, Brazil

Applications of electron microscopy in health: the example of epidermolysis bullosa

We report the case of a patient with dystrophic epidermolysis bullosa (DEB) diagnosed by transmission electron microscopy (TEM), emphasizing the applications and importance of this technique in the health area. The patient was a male, the only child of young and non-consanguineous parents without similar cases in the family. The patient underwent a cutaneous biopsy in which TEM revealed sub-basal membrane involvement, confirming the diagnosis of DEB. Despite technological advances, TEM continues to play an important role in diagnosis and clinical research and is considered the best option for confirmation of diagnosis and subtypes of diseases such as epidermolysis bullosa (EB).

Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis

Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our aim was to report an unexpected detection of a patient with fragile X syndrome by GTG-Banding karyotype analysis (G-bands after trypsin and Giemsa). The karyotype analysis identified Xq27.3 fragility in 17% of the metaphases analyzed and in 54% when using TC 199, consistent with the cytogenetic diagnosis of the syndrome. This case was the sole one to present the fra(X) tests in the high-resolution karyotype analysis in our care service, contributing to future diagnoses of patients with history of developmental delay.

Birth weight, length and head circumference: Progression and impact over the outcome of patients with congenital heart disease

BACKGROUND There are few studies assessing the birth measures of patients with congenital heart disease (CHD). Our aim to evaluate their progression and impact over the outcome. METHODS The cases consisted of patients with CHD during their first hospitalization in a reference cardiac and pediatric intensive care unit (ICU) from Southern Brazil. Controls were composed of patients with no clinical evidence of CHD hospitalized soon after cases. The cases underwent high-resolution karyotype and fluorescence in situ hybridization (FISH) for 22q11 microdeletion. We analyzed birth weight, length and head circumference of patients of both groups. For CHD patients, we evaluated their progression and impact until hospitalization at ICU. RESULTS Our sample was composed of 198 cases and controls. We observe a difference in birth weight of CHD patients only in relation to general population. There was a significant increase in children with CHD and weight below the lower limit from birth until the hospitalization at ICU, and this occurred more in those without complex CHD. Syndromic patients and with an extracardiac malformation also presented a greater difficulty to maintain not only the weight but also the length/height until the hospitalization. Individuals with weight below the lower limit at hospitalization who died had a tendency to present longer stay at ICU. CONCLUSIONS Some CHD patients, especially without complex defects, and with syndromic aspect and a major extracardiac malformation, present a higher difficult to maintain their weight and growth, and, therefore, may be at risk and should be more closely monitored.

Use of the fluid obtained by puncture of cystic hygroma: an alternative method for fetal karyotyping

The aim of our study aim was to report the case of a fetus with Turner syndrome (TS) diagnosed by karyotype from cystic hygroma (CH) fluid, highlighting the applications and importance of this procedure. First-trimester screening revealed an increased nuchal translucency measurement, cervical cystic hygroma and head and trunk subcutaneous edema. The presence of oligohydramnios prevented the performance of amniocentesis. We performed puncture of the CH for fetal karyotyping, which revealed X-chromosome monosomy (45,X), compatible with TS. Therefore, the use of CH fluid as an alternative sample for fetal karyotyping may be considered when conventional invasive procedures can not be performed.

Congenital heart disease in Southern Brazil: Potential impact and prevention

a Graduate Program in Pathology, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), RS, Brazil b Graduation in Medicine, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), RS, Brazil c Graduation in Nursing, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), RS, Brazil d School of Medicine, Division of Medical Oncology, University of Colorado Denver, CO, USA e Clinical Genetics, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil f Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), RS, Brazil

Cardiopatias congênitas e cromossomopatias detectadas por meio do cariótipo

Objective: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. Data sources: Scientific articles were searched in MEDLINE database, using the descriptors “karyotype” OR “chromosomal” OR “chromosome” AND “heart defects, congenital”. The research was limited to articles published in English from 1980 on. Data synthesis: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted

Cardiopatías congénitas y anomalías cromosómicas detectadas mediante cariotipo

Objective: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. Data sources: Scientific articles were searched in MEDLINE database, using the descriptors “karyotype” OR “chromosomal” OR “chromosome” AND “heart defects, congenital”. The research was limited to articles published in English from 1980 on. Data synthesis: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted