infant, newborn, diseases

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Zebras Exist, Too!

Fabry disease (FD) is a rare X-linked hereditary lysosomal storage disease caused by deficient activity of the enzyme alpha-galactosidase A that leads to the accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart, brain, and kidneys. In FD, cardiac damage begins early and progresses subclinically before the appearance of symptoms and generally manifests as left ventricular hypertrophy simulating hypertrophic cardiomyopathy (HCM). Recent studies have demonstrated a prevalence of FD of up to 5% in patients whose initial diagnosis was HCM. After the introduction of enzyme replacement therapy, FD deserves special attention in the differential diagnosis in patients with unexplained ventricular hypertrophy and HCM, as it is a heart disease that requires specific treatment. However, early diagnosis and treatment are essential to prevent the progression of the disease by reducing cardiovascular event rates.^–

With the aim of investigating the clinical and exam differences between HCM and DF, the study of Akhan et al. retrospectively evaluated 60 patients with HCM and 40 with FD. In this population, with a similar average age, the authors showed, in general, that the characteristics of the two cardiac conditions share more similarities than differences, making diagnosis a challenge in clinical practice.

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Oculo-auriculo-vertebral spectrum in patients with congenital heart defects

Rafael Fabiano Machado Rosa et al. Paulo Ricardo Gazzola Zen José Antônio Monteiro Flores Eliete Golendziner … Carlo Benatti Pilla Tatiana Roman Marileila Varella-Garcia Giorgio Adriano Paskulin

BACKGROUND: There have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with congenital heart defects (CHDs). OBJECTIVE: To verify the frequency of OAVS in a sample of patients with major heart malformations. METHODS: We evaluated a prospective cohort of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU) in Brazil. The diagnosis of OAVS was made based on the clinical data, considering standard criteria. The patients that met these criteria were submitted to high resolution GTG-Banding karyotype and fluorescence in situ hybridization for 22q11.2 microdeletion. Fisher’s exact test (P < 0.05) was used for the statistical analysis. RESULTS: During the period of evaluation, 330 patients were hospitalized for the first time in the ICU, but thirty of them did not participate in the study. Of the 300 patients that constituted the final sample, OAVS was verified in 3 cases (1%). All presented normal cytogenetic studies. CONCLUSION: OAVS seems to be a frequent condition among patients with CHDs. However, we cannot exclude the possibility that the frequency of OAVS found in our study might have been underestimated due to the low rate of prenatal detection of CHDs and the limited access of patients to appropriate health care in our region. Future prospective studies with well defined clinical criteria and subjects with mild and major defects will be important to assess the role of OAVS in the general population of subjects with heart malformations.

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Zebras Exist, Too!

Oculo-auriculo-vertebral spectrum in patients with congenital heart defects

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Electronic Document Format (Vancouver)

Electronic Document Format (ABNT)

Electronic Document Format (APA)

Electronic Document Format (ISO)