Genetički aspekti iznenadne smrti kod prirođenih aritmogenih sindroma

Recent research has revealed the genetic etiology of a number of heart diseases that cause sudden cardiac death. Lethal channelopathies are of great importance among the genetically determined heart diseases. Their basic characteristics are unpredictable and deadly nature, autosomal dominant inheritance with variable expressivity and incomplete penetrance in structurally normal heart, and absence of morphological and histological clues that a standard autopsy can identify. Minimum screening of the relatives of sudden cardiac death victims involves taking medical history, physical examination, electrocardiography, echocardiography, and exercise testing. Total positivity of classic genetic tests is only 15%-25%. Even the next generation sequencing technology does not provide a positive result of genetic testing in more than 35% of cases. Therefore, it is necessary to identify a larger number of genes the presence of which can lead to sudden cardiac death, to reduce the number of false positive results, and point to the importance of conducting genetic testing of young victims of sudden cardiac death. Until then, it is enough to preserve 5 g of fresh heart tissue of sudden cardiac death victims at a temperature of -80 °C. The material can be analyzed years later without losing its actuality because it contains information important for the next generation of the sudden cardiac death victim relatives.Novija istraživanja na polju genetike su otkrila nasljednu etiologiju jednog broja srčanih bolesti koje izazivaju iznenadnu srčanu smrt. Smrtonosne kanalopatije su od velike važnosti među genetski uvjetovanim bolestima srca. Njihova temeljna obilježja su nepredvidiva i smrtonosna narav, autosomno dominantno nasljeđe s varijabilnom ekspresivnosti i nepotpunom penetrantnosti u strukturalno normalnom srcu u odsutnosti morfoloških i histoloških naznaka koje se mogu identificirati standardnom obdukcijom. Minimalni odabir srodnika žrtve iznenadne srčane smrti obuhvaća uzimanje anamnestičkih ­podataka, fizikalni pregled, kardiološki pregled, elektrokardiografiju, ehokardiografiju, test opterećenja. Ukupna pozitivnost klasičnih genetskih testova za otkrivanje urođenih bolesti srca je od 15% do 25%. Ni nova generacija tehnologije sekvenciranja ne nudi pozitivan rezultat genetskog testiranja u više od 35% slučajeva, ni uz to što postupak testiranja traje kraće i jeftiniji je. Zato je potrebno identificirati veći broj gena prisustvo kojih može dovesti do iznenadne srčane smrti, smanjiti broj lažno pozitivnih rezultata genetskog testiranja, sigurnije ukazati na značenje provođenja genetskog testiranja mladih žrtava iznenadne srčane smrti, kako bi genetsko testiranje postalo dio standardnog dijagnostičkog postupka. Do tada je dovoljno uzeti i sačuvati 5 g svježeg srčanog tkiva žrtve iznenadne srčane smrti na temperaturi od -80 ˚C. Uzeti materijal može se analizirati i mnogo godina nakon uzimanja ne gubeći na aktualnosti, jer u sebi sadrži informaciju od važnosti za sljedeće generacije srodnika žrtve iznenadne srčane smrti

Kardiorespiracijske komplikacije u bolesnika s osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, usually caused by dominant mutations of genes coding for collagen type I alpha chains, COL1A1/A2. Although skeletal manifestations of OI are most readily observable, cardiopulmonary disorders in patients with OI are increasingly recognized as life-threatening but treatable disorders. Unfortunately, the majority of patients with moderate to severe types of OI die from or with cardiopulmonary complications. The lungs and the heart are often unrecognizable and neglected organs in patients with OI. In monitoring of patients with OI, attention is mostly focused on monitoring long bone and spine deformities, and indirectly deformities of the chest wall, which have consequences on the development of lung and the airway diseases. Lung disorder is frequently ignored until breathing problems become severe. An important component in patients with OI is obstructive lung disease, sleep disordered breathing, as well as acute and chronic infection often connected with resultant bronchiectasis. In addition to respiratory complications, some patients with OI have serious cardiovascular problems, including severe mitral valve prolapse, aortic valve insuffi ciency and dilation of the aorta, which require cardiac surgery. The diagnosis and management of the lung and cardiovascular complications in some patients with OI are quite diffi cult. In all patients with OI, it is important to recognize and monitor respiratory and cardiovascular manifestations in order to prevent further progression of any complications.Osteogenesis imperfecta (OI) je nasljedna bolest vezivnog tkiva koja je najčešće uzrokovana dominantnim mutacijama gena koji kodiraju alfa lance kolagena tip I, COL1A1/A2. Iako se su skeletne manifestacije najuočljivije, srčanoplućne bolesti u bolesnika s OI sve se više prepoznaju kao za život opasne bolesti koje se mogu liječiti. Nažalost, većina bolesnika s umjerenim do teškim tipovima OI umire zbog srčanoplućnih komplikacija ili s njima. Pluća i srce često ostaju neprepoznati i zanemareni organi u bolesnika s OI. U praćenju bolesnika s OI pozornost je uglavnom usredotočena na praćenje deformiteta dugih kostiju i kralježnice te neizravno na deformitete stijenke prsnog koša koji utječu na razvoj plućnih bolesti i bolesti dišnih putova. Plućni poremećaj često se zanemaruje sve dok problemi s disanjem ne postanu doista teški. U bolesnika s OI važna sastavnica je opstruktivna bolest pluća, poremećaj disanja u snu te akutna i kronična infekcija koja je često povezana s nastankom bronhiektazija. Uz dišne komplikacije neki bolesnici s OI imaju ozbiljne srčanožilne probleme uključujući težak prolaps mitralnog zaliska, insufi cijenciju aortnog zaliska i dilataciju aorte, što zahtijeva operaciju srca. Dijagnostika i zbrinjavanje plućnih i srčanožilnih komplikacija prilično je teško u nekih bolesnika s OI. Kod svih bolesnika s OI važno je prepoznati i pratiti dišne i srčanožilne manifestacije kako bi se spriječilo daljnje napredovanje komplikacija

Short epidemiological overview of the current situation on COVID-19 pandemic in Southeast European (SEE) countries

We are living in times where a viral disease has brought normal life in much of the world to a halt. The novel coronavirus known as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causing coronavirus disease 2019 (COVID-19) started in December 2019 in Wuhan, China initially and in a short time crossed the European borders. After mitigating the epidemic in China, Italy became one of the most COVID-19 affected countries worldwide. International travelers are important sources of infectious diseases and a possible source of epidemic. Due to its political, geographic, and cultural similarities, Italy is one of the main economic partners of Southeast European (SEE) countries. Our data show that infection in index cases in all 11 SEE countries was travel-related with Italy being a source country for 8/11 countries. After the first case identifications on February 25, the number of cases in SEE countries is continually rising reaching the total number of 15,612 with 565 fatal cases and overall case fatality ratio (CFR) of 3.6 (median 3.8, range 0.8–5.5) by April 10, 2020. At a time when the COVID-19 pandemic is approaching its peak, apart from the problems with treatment of the disease and care for critically ill patients, there are other equally important problems, such as organization of outbreak response, provision of health care, lack of hospital personnel, disruption of personal protective equipment supply chains and health care workers (HCWs) protection. But what is more important is the heroic behavior of the HCWs who are showing their humanity by disregarding their lives

The incidence of congenital heart disease: Previous findings and perspectives

Congenital heart defects (CHD) are the most common of all congenital anomalies, and represent a significant global health problem. Involvement of medical professionals of different profiles has led to drastic changes in survival and quality of life of children with CHD. The motivation for the implementation of the first large population studies on this subject was not only to obtain answers to the question on the level of incidence of CHD, but the harmonization of criteria and protocols for monitoring and treatment of certain defects as well as the planning of medical staff dealing with children with CHD. Data on the incidence varies from 4-10/1000 live births. Fetal echocardiography can have potential impact on decrease of CHD incidence. The increase in incidence may be due to the possibility that children with CHD will grow up and have offsprings. Owing to the progress that has been made, an increasing number of patients experiences adulthood, creating an entirely new and growing population of patients: patients with “adult” CHD. Survivors suffer morbidity resulting from their circulatory abnormalities as well as from medical and surgical therapies they have been subjected to. Application of the achievements of human genome projects will in time lead to drastic changes in the approach to the patients with CHD. Until the time when it is possible, the goal will be further improvement of the existing system of service: networking in a unique, multicenter clinical registry of patients with CHD, as well as upgrading of technical and non-technical conditions for the treatment of patients with CHD. We are in an unprecedented time of change, but are actually at the end of the beginning of making pediatric cardiac care a highly reliable institution

Echocardiographic evaluation of ventricular septal defect haemodynamics

Introduction Ventricular septal defect (VSD) is an opening in the interventricular septum. 30-50% of patients with congenital heart disease have VSD. Objective The aim of the study was to determine the dependence of the left ventricular diastolic dimension (LVD), left ventricular systolic dimension (LVS), shortening fraction (SF), left atrium (LA), pulmonary artery truncus (TPA) on the body surface and compare their values among experimental, control and a group of healthy children. Values of maximal systolic gradient pressure (Pvsd) of VSD were compared with children from one experimental and control group. Method Children were divided into three groups: experimental (32 children with VSD that were to go to surgery), control (20 children with VSD who did not require surgery) and 40 healthy children. Measurements of LVD, LVS, SF, LA, TPA were performed in accordance to recommendations of the American Echocardiographic Association. The value of Pvsd was calculated from the maximal flow velocity (V) in VSD using the following formula: Pvsd=4xVІ (mm Hg). Results For children from the experimental group, the relationship between the body surface and the variability of the LVD was explained with 56.85%, LVS with 66.15%, SF with 4.9%, TPA with 58.92%. For children from the control group, the relationship between the body surface and the variability of LVD was explained with 88.8%, LVS with 72.5%, SF with 0.42%, PA with 58.92%. For healthy children, the relationship between the body surface and the variabilitiy of the LVD was explained with 88.8%, LVS with 88.78%, SF with 5.25% and PA with 84.75%. There was a significant statistical difference between average values of Pvsd in the experimental and control group (p<0.02). Conclusion The presence of the large VSD has an influence on the enlargement of LVD, LVS, SF, TPA. The enlargement of the size of the pulmonary artery depends on the presence of VSD and there is a direct variation in the magnitude of the shunt. There is a relationship and significant dependence of the LVS and LVD on the body surface. There is no statistically significant dependence between SF and body surface

Genetic Aspects of Hereditary Arrhythmogenic Syndromes in Children and Adults

Recent research has revealed the genetic etiology of a number of heart diseases that cause sudden cardiac death. Lethal channelopathies are of great importance among the genetically determined heart diseases. Their basic characteristics are unpredictable and deadly nature, autosomal dominant inheritance with variable expressivity and incomplete penetrance in structurally normal heart, and absence of morphological and histological clues that a standard autopsy can identify. Minimum screening of the relatives of sudden cardiac death victims involves taking medical history, physical examination, electrocardiography, echocardiography, and exercise testing. Total positivity of classic genetic tests is only 15%-25%. Even the next generation sequencing technology does not provide a positive result of genetic testing in more than 35% of cases. Therefore, it is necessary to identify a larger number of genes the presence of which can lead to sudden cardiac death, to reduce the number of false positive results, and point to the importance of conducting genetic testing of young victims of sudden cardiac death. Until then, it is enough to preserve 5 g of fresh heart tissue of sudden cardiac death victims at a temperature of -80 °C. The material can be analyzed years later without losing its actuality because it contains information important for the next generation of the sudden cardiac death victim relatives

Transcatheter closure of patent ductus arteriosus using Flipper coil and Amplatzer Duct Occluder: Ten-year experience from a single center

Introduction/Objective. Transcatheter closure is a well-established procedure for treatment of patent ductus arteriosus (PDA). We aimed to make a comparison between transcatheter PDA occlusion with Flipper coil and Amplatzer Duct Occluder (ADO) and to determine the incidence and significance of procedural complications. Methods. Between November 2004 and October 2014, 148 patients were eligible for transcatheter PDA closure at the University Children’s Hospital in Belgrade, Serbia. The median age was 5.9 years (the range of 0.9 years to 17.3 years) and the median weight was 21 kg (the range of 8.8 kg to 94 kg). Follow-up evaluations with Doppler echocardiogram were performed at one day, three months, and one and two years after the PDA occlusion. Results. Median narrowest PDA diameter was 1.5 mm (the range of 0.5 mm to 5.6 mm). Flipper coil was used for PDA closure in 84 (59.2%) and ADO in 58 patients (40.8%). There was no significant difference in the rate of immediate complete closure between the coil and the ADO group (86.9% vs. 75.9%, p = 0.089), but a significantly higher rate of complete closure was achieved with ADO at one day (83.3% vs. 98.3%, p = 0.004), three months (85.7% vs. 100%, p = 0.002), and both one and two years after the implantation (91.7% vs. 100%, p = 0.041). In total, 12 complications occurred during the procedure, seven of which with coil and five with ADO occlusion of PDA. Conclusion. Transcatheter closure of PDA using both coils and ADOs is a very safe and effective procedure. ADO proved superior to coil in terms of complete closure rate as early as one day after the procedure