The functioning of children with congenital heart defects and their families in society is discussed rarely and too generally in the literature. Medical personnel, educators and caretakers have very little knowledge about this chronic disease and its prevalence. This lack of knowledge generates two extreme and undesirable attitudes: unjustified fear and negligence of the disease and its consequences. Both attitudes prevent a thorough understanding of the problem, in particular the aspects that influence the social life of children and their parents. As a result, the families of affected children are often left to their own devices, and they receive support only from other parents who are faced with the same problem or from non-governmental organizations. Educators, psychologists and sociologists should be encouraged to develop a cohesive support system based on reliable research results, and to implement measures that would enable young patients and their families to function better in society.
Attempts to adapt the classifications of pediatric congenital heart defects (CHD) to prenatal cardiology have been lasting for many years. The paediatric cardiology CHD classifications are mainly based on anatomic details and/or pulmonary blood flow and are not always useful in fetal medicine. Because of these reasons and also many more, adaptation attempts of congenital heart defects of children, from pediatric to prenatal cardiology have not brought desired effects.Clinical course in utero and at delivery can now be predicted, and as a consequence, fetal medicine specialists are being asked to consider the fetus as a patient and the transition to postnatal life is an important part of care. The new prenatal classifications of CHD shows new particular group of CHD, requiring emergent procedure after birth. Thanks to organizing special delivery room with special team of specialist we can much more improve the outcome, especially in severest CHD.
Iolanda Muntean, Carmen Şuteu, Rodica Togănel and Claudia Bănescu
, Butnariu L, Gramescu M, et al. Benefits of cytogenetic testing in diagnosis of plurimalformative syndromes with congenitalheartdefects. Rev Romana Med Lab. 2012;20(3):265-72.
14. Togănel R, Muntean I, Duicu C, Făgărăşan A, Gozar L, Bănescu C. The role of eNOS and AGT gene polymorphisms in secondary pulmonary arterial hypertension in Romanian children with congenital heart disease. Rev Romana Med Lab. 2013; 21(3):267-74. DOI: 10.2478/rrlm-2013-0031
15. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmöller J, Johne A et al. Functional polymorphisms of
Stefano Paolacci, Yeltay Rakhmanov, Paolo Enrico Maltese and Matteo Bertelli
(including information such as type of inheritance and risk of recurrence) and for correct follow-up ( 29 ). If the etiology of the disease is known, such as the impairment of a specific molecular pathway, patients can be enrolled in clinical trials that test drugs specifically targeting that pathway ( 29 ).
1 Khodyuchenko T, Zlotina A, Pervunina T, Zverev D, Malashicheva A, Kostareva A. Congenitalheartdefects are rarely caused by mutations in cardiac and smooth muscle actin genes. Biomed Res Int. 2015;2015:127807. 25861618
, Goldmuntz E, et al.; American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young. Genetic basis for congenitalheartdefects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115(23): 3015-3038.
16. Greene AK, Kim S, Rogers GF, Fishman SJ, Olsen BR, Mulliken JB. Risk of vascular anomalies with Down syndrome. Pediatrics. 2008
Mihaela Patriciu, Andreea Avasiloaiei, Mihaela Moscalu and Maria Stamatin
7. Brown KL, Ridout DA, Hoskote A, Verhulst L, Ricci M, Bull C. Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates. Heart 2006;92:1298–302.
8. Acharya G, Sitras V, Maltau JM, et al. Major congenital heart disease in Northern Norway: shortcomings of preand postnatal diagnosis. Acta Obstet Gynecol Scand. 2004;83:1124-9.
9. Ewer AK, Furmston AT, Middleton LJ, et al. Pulse oximetry as a screening test for congenitalheartdefects in newborn infants: a test accuracy study with evaluation of
. Galindo A, Herraiz I, Escribano D, Lora D, Melchor JC, de la Cruz J.: Prenatal detection of congenitalheartdefects: a survey on clinical practice in Spain. Fetal Diagn Ther. 2011, 29 (4), 287-95
16. Germanakis I, Sifakis S.: The impact of fetal echocardiography on the prevalence of liveborn congenital heart disease. Pediatr Cardiol. 2006 , 27(4),465-72. Epub 2006 Jul 6
17. Warrier D, Saraf R, Maheshwari S, Suresh P, Shah S.: Awareness of fetal echo in Indian scenario. Ann Pediatr Cardiol. 2012 , 5 (2), 156-9
Milovan Stojanović, Marina Deljanin-Ilić, Aleksa Vuković and Dejan Petrović
Tetralogy of Fallot is the most common cyanogenic congenital heart defect. The diagnosis is based on clinical signs, ECG examination, ultrasound examination of the heart, additional imaging methods and invasive testing. The therapeutic approach to the patient with tetralogy is complex and based on conservative and radical methods. Patients who have not undergone a radical surgical intervention have a poor prognosis, whereas the prognosis is much better for patients who have been operated. The most common complication of the surgical treatment is the pulmonary valve insufficiency which usually requires reintervention, as was the case with our patient.
., Mahle W.T., Correa A.: Prevalence of congenitalheartdefects in Atlanta, 1998-2005. J Pediatrics 2008;153:807-813.
5. Kordjalik P.: Analiza poznawcza wybranych rejestrów wad wrodzonych: globalne czy lokalne?. Praca naukowa na stopień magistra; Uniwersytet Medyczny, Łódź 2011.
6. Latos-Bieleńska A., Materna-Kiryluk A., Mejnartowicz J.P., Krawczyński M., Balcar-Boroń A., Gajewska A., Limon J., Walczak M., Stańczyk J., Szwałkiewicz-Warowicka E., Krawczyński M.R., Wiśniewska M., Glazar R., Wolnik-Brzozowska D., Błońska-Polarczyk B., Ignyś