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

Association of Latent Tuberculosis Infection in Health Care Workers with Allergy and Allergic Sensitization to Common Aeroallergens

Health care workers (HCW) are at increased risk of a latent tuberculosis infection (LTBI) due to occupational exposure to Mycobacterium tuberculosis. In order to investigate the mutual influence of a TH1 type immune response caused by LTBI and T helper 2 (TH2) type immune response caused by allergy, we conducted a study examining the prevalence of common inhaled allergen sensitization in the HCW population with different levels of exposure to tuberculosis (high and low). HCW with possible exposure to tuberculosis (TB) were tested with QuantiFERON-TB Gold (QFT-G) and tuberculin skin test (TST), while skin prick test (SPT) was performed for inhaled allergens. The antigen (Ag) response at QFT-G was inversely correlated with participants` allergy anamnesis (p= 0.039). Sensitization to inhaled allergens (positive SPT and number of positive allergens at SPT) was more prominent in the low exposure group (p= 0.006 and p= 0.0065, respectively). Ag response at QFT-G test was significantly higher in participants with no medical history of allergy (p= 0.048). Our results demonstrate that exposure to TB and LTBI are associated with inhaled allergen sensitization in HCW, possibly inhibiting allergic sensitization by mediating the T-helper type 1 (Th1) immune response

Mysterious atrial mass mimicking severe mitral stenosis

Introduction: The differential diagnosis of an intracardiac mass include benign and malignant primary heart tumors, metastatic tumors and thrombi. Primary tumors of the heart consist mainly of myxomas, with an incidence of less than 0.5%. Clinical manifestations are consequence of embolic phenomena, intracardiac obstruction or constitutional symptoms. In rare instances, myxomas can cause a mass effect, resulting in mitral valve obstruction1. Case report: 68-year-old male with a history of ulcerative colitis complained to his gastroenterologist about having exercise intolerance. Undergoing regular colitis evaluation, CT thorax and abdomen scan was performed incidentally revealing a large intracardiac mass. Echocardiogram ordered by the consulting cardiologist demonstrated a large ellipsoid left atrial cyst (50×31 mm), occupying nearly the entire left atrium (Figure 1). The mass was protruding across the mitral valve orifice in diastole causing functional stenosis with an elevated mean diastolic gradient of 10,9 mmHg. Mitral valve area calculated by pressure half-time was 1.0 cm2. Doppler showed moderate tricuspid regurgitation with a systolic pulmonary artery pressure of 50 mmHg. The systolic function was preserved with an estimated left ventricular ejection fraction of 58%. Transesophageal echocardiography described a cavitating lesion (measuring 15,1 cm2, attached to interatrial septum with 24 mm base), having characteristics consistent with a hemorrhagic cyst (Figure 2). Preoperative coronary angiography displayed coronary artery disease and a rare condition of dual coronary artery supply with left circumflex artery (LCx) providing two (Figure 3) and right coronary artery (RCA) one tumor branch (Figure 4) producing a characteric "tumor blush". CT showed large intracardiac mass (Figure 5 and Figure 6). Patient underwent cardiothoracic surgery with successful excision of the tumor (4,5x3x2 cm), the pathohistology confirmed myxoma. Postoperative course was uneventful, exercise intolerance symptoms improved, and echocardiographic follow up showed no intracardiac mass. Conclusion: We described a rare case of cystic-appearance cardiac myxoma with dual coronary supply mimicking mitral valve stenosis. There are not many patients reported with left atrial myxoma being vascularized from both RCA and LCx as seen in our case2. Although more than half of atrial myxomas show obstructive symptoms, severe mitral valve obstruction is rare1. Early echocardiographic examination of patients presenting with exertional dyspnea is advised, as myxomas have an excellent prognosis following surgical excision, preventing complications and improving quality of life