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:// . 20. Benvenuto A, Moavero R, Alessandrelli R, et al. Syndromic autism: causes and pathogenetic pathways. World J Pediatr 2009;5(3):169-6. 21. Miles JH, McCathren RB, Stichter J, Shinawi M. Autism spectrum disorders. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. 22. Cohen D, Pichard N, Tordjman S, et al. Specific genetic disorders and autism: Clinical contribution towards their identification. J Autism Dev Disord 2005;35(1):103-16. 23. Persico AM, Napolioni V. Autism


Background: Left non-compaction cardiomyopathy (LVNC) or “spongy myocardium” is a relatively rare primary genetic cardiomyopathy, characterized by prominent wall trabeculations and intertrabecular recesses which communicate with the ventricular cavity. It appears in isolated form or coexists with other congenital heart diseases and/or systemic abnormalities. Material and method: A 28-year-old woman was admitted with exertional dyspnoea, palpitations, non-specific chest pain and progressive fatigue on exertion. In her family history sudden cardiac-related deaths at young age are present. Cardiovascular system examination revealed tachycardia, intermittent extrabeats. The rest EKG showed sinusal tachycardia (105 bpm), negative T-waves in DII, DIII, aVF, V4-V6. Consecutive 24 hours Holter EKG monitoring revealed nonsustained ventricular tachycardia, paroxysmal atrial fibrillation, isolated ventricular extrasystoles. Echocardiography showed left ventricular systolic dysfunction (LVEF:30-35%), slight LV enlargement, normal right ventricle and small left ventricle (LV) trabeculae in the apical area. Cardiac MRI demonstrated dilated LV and the presence of the trabeculations of LV walls suggestive for non-compaction cardiomyopathy. A combined treatment for heart failure and cardiac arrhythmias was initiated with good clinical results. Patient was scheduled for an implantable cardioverter defibrillator “life-saving”. Conclusions: The symptoms of heart failure and cardiac arrhythmias should be considered important in apparently healthy young patients. Besides intensive medical treatment is indicated the implantation of an ICD “life-saving” and in advanced cases heart transplantation. Even if the electrocardiographic findings are non specific for noncompaction, a complete diagnostic evaluation is important, including sophisticated imaging techniques, a screening of first-degree relatives, and an extensive clinical, and genetic appreciation by a multidisciplinary team.


The tubulin cytoskeleton is vital for maintenance and dynamics of eukaryotic cells and molecular defects in its components can lead to serious conditions. So far, mutations in genes for alpha-, beta- and gamma-tubulin, motor proteins of the kinesin and dynein family, microtubule-associated and centrosomal proteins have been found to cause disorders in humans. Most phenotypic effects are on the nervous system, leading to abnormal brain development (e.g. lissencephaly and microcephaly) or to neurodegeneration in later life (e.g. amyotrophic lateral sclerosis and frontotemporal dementia). Another group of disorders include the ciliopathies, caused by defects in the axoneme. They include primary ciliary dyskinesia (immotile cilia syndrome), which is characterized by chronic respiratory infections, male infertility and randomly established left-right asymmetry. In most cases, the underlying defects are in axonemal dynein. Mutations in genes for centrosomal components have been shown to cause cortical dysplasia and dwarfism by disrupting the mitotic spindle, and some cases of infertility with maturation arrest are likely to be caused by unidentified mutations damaging the meiotic spindle. In view of these diverse phenotypes, knowledge about mutations affecting tubulin cytoskeleton becomes increasingly useful for clinical practice.


11 deletion syndrome, Jacobsen syndrome (JBS), is a rare genetic abnormality associated with a wide variety of phenotypes. There are only a few case reports of JBS diagnosed prenatally, however majority resulting in termination of pregnancy. We present for the first time a prenatal diagnosis of JBS with congenital heart defect common arterial trunk type I (CAT) and the changing phenotype during fetal and postnatal life.


Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava.

References 1. Sonesson SE, Fouron JC, Lessard M. Intrauterine diagnosis and evolution of a cardiomyopathy in a fetus with Noonan's syndrome. Acta Paediatr. 1992;81(4):368-70. 2. Johes KL. Smith's Recognizable Patterns of Human Malformations. Elsevier Saunders 2006 3. Baza danych GeneTests: 4. van Huizen ME, Pighetti M, Bijlsma EK, Knegt AC, Bilardo CM. Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents. Ultrasound Obstet

were identified from the Cystic Fibrosis and Genetic Disorders Group’s Coagulopathies Trials Register. This register is compiled from electronic searches of the Cochrane Central Register of Controlled Trials, weekly searches of MEDLINE and prospective manual searching of Haemophilia. Searches were also conducted on abstracts from conferences and meetings of the European Haemophilia Association, the American Society of Haematology, the British Society for Haematology, the International Society of Haemostasis and Thrombosis and the International Congress of World


Myeloproliferative neoplasms (MPN) are haematological diseases, characterized by clonal hematopoiesis. Hemostasis abnormalities are among the most critical and frequent complications, affecting the quality of life and a possible reason for death. Thrombotic complications are common and multifactorial. Our aim was to study some genetic thrombophilia factors – Factor V Leiden (FVL), G20210A mutation in prothrombin gene (PR G20210A) and PLA2 allele polymorphism of glycoprotein IIIa gene (GPIIIa gene), and their frequency and association with thrombotic risk in both Philadelphia-positive and Philadelphia-negative MPN – chronic myelogenous leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET), and primary and secondary myelofibrosis (MF). In our patient population, PLA2 allele polymorphism of GPIIIa gene proved to be the most common and significantly associated with thrombotic complications – 26.85% of our patients were carriers, and 24.14% of them reported thrombotic complications.

Emberger syndrome (Other synonyms: Primary lymphedema with myelodysplasia) General information about the disease Emberger syndrome (ES) is a very rare genetic disorder with primary lymphedema and myelodysplasia progressing to acute myeloid leukaemia (AML). ES may present as: primary lymphedema mostly of the lower extremities (unilateral or bilateral); genital lymphatic abnormalities (lymphedema, lymphangiectasis, hydrocele); myelodysplasia/AML (low CD4/CD8); acute lymphangitis, multiple warts and deafness may develop due to immune dysfunction ( 1 , 2 ). Other

Conditions such as cystic fibrosis are caused by a single gene, therefore, counseling and testing for this condition is relatively straight forward with well established guidelines to guide the genetic counselor and other health professionals [ 1 ]. However, many genetic disorders can be heterogenous in both their genetic and clinical presentation, as demonstrated very clearly with neurological conditions such as glutaric aciduria type I (GA1), Canavan Disease, cancer and neuromuscular disorders [ 2 , 3 , 4 , 5 , 6 , 7 , 8 ]. Next generation sequencing (NGS