Browsing by Author "Ninić, Sanja (51864038300)"

Introduction/Objective The anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is rare congenital disease, which causes myocardial ischemia and subsequent heart failure in infants. The aim is early and mid-term follow up evaluation of the heart function after surgical repair of ALCAPA. Methods Investigation was retrospective and included medical records of the ALCAPA patients treated surgically, between 2009 and 2017, at the tertiary referent heart center. Results Five patients (four girls) with coronary anomaly were included in the study. All patients had significantly increased left ventricular end diastolic diameter (z-score 6.6 ± 2.43) and left atria size (z-score 3.09 ± 0.37), along with decreased systolic function (ejection fraction 34.8 ± 7.4% and fractional shortening 15.5 ± 3.4%). The surgery was performed on average at the age of 8.2 ± 7.8 months. Operative treatment was associated with early improvement in echocardiographic parameters (except the size of the left atria). Patients were followed for 4.5 ± 2.6 years. Improvement in echocardiographic parameters was age-related. Patients under four months had recovery early after surgery, those treated at 5.5–6 months of age had normalization after 12 months, and patient who was recognized in the second year of life had late recovery (after ≥ 24 months). Conclusion Operative treatment in the first 3–4 months of life is related with the most favorable prognosis and rapid normalization of the echocardiographic parameters. © 2019, Serbia Medical Society. All rights reserved.

Severe and reproducible low-renin hypertension responsive to salt restriction and amiloride-thiazide therapy in a 13-year-old otherwise asymptomatic boy suggested Liddle syndrome. This assumption was strengthened by a positive family history of hypertension poorly responsive to conventional treatment or sudden deaths under 40 years of age in four generations. DNA analysis of the beta and gamma subunits of the epithelial sodium channel revealed a heterozygous mutation c.C1852T (p.Pro618Ser) in the SCNN1B gene in the patient and in both his hypertensive mother and uncle. A PubMed search revealed 21 different disease-causing mutations reported to date, all but two clustering in the cytoplasmic C-terminal regions of either beta (16 mutations) or gamma (5) subunit, leading to a three- to eightfold increase in the amiloride-sensitive sodium current. Inter- and intrafamilial variability in both hypertension and hypokalemia were disclosed, which may not be obligatory among the subjects carrying a Liddle mutation. Conclusion: Liddle syndrome should be considered as a cause of hypertension in children or adolescents particularly with suppressed renin activity. Early diagnosis and appropriately tailored treatment avoid complications of long-term unrecognized or inappropriately managed hypertension. © Springer-Verlag 2011.