Thrombosis of ductus arteriosus aneurysm (DAA) is a well-known complication of DAA that can lead to vascular obstruction or thromboembolic events. A full-term male newborn presented with isolated righ Show more
Thrombosis of ductus arteriosus aneurysm (DAA) is a well-known complication of DAA that can lead to vascular obstruction or thromboembolic events. A full-term male newborn presented with isolated right ventricular hypoplasia (IRVH). Follow-up echocardiography at 19 days of life revealed a pedunculated mass, suggesting a thrombus partially obstructing the left pulmonary artery (LPA). The patient remained clinically stable but was admitted to the neonatal intensive care unit for close monitoring. CT and MRI confirmed DAA thrombosis involving LPA. Due to a lack of resolution with conservative treatment, the patient underwent a thrombectomy and resection of the ductus arteriosus (DA). The postoperative course was uneventful, and the follow-up echocardiography showed normalisation of the right ventricular cavity and no residual thrombus. This case highlights the importance of early detection and investigation in neonates with echocardiographic findings of intrauterine ductus arteriosus closure, stenosis, or DA closure in the first 12 h of life to prevent life-threatening complications. Show less
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations Show more
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations. As a part of the international multidisciplinary SILICOFCM project ( www.silicofcm.eu ) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography. The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p = 0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085). Laboratory analyses revealed normal levels of creatinine (85.5 ± 18.3 vs. 81.3 ± 16.4 µmol/l; p = 0.487) and blood urea nitrogen (10.2 ± 15.6 vs. 6.9 ± 3.9 mmol/l; p = 0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p = 0.001). The difference in diastolic function, i.e. E/e' ratio between the two groups was also noted (MYBPC3 8.8 ± 3.3, MYH7 13.9 ± 6.9, p = 0.079). Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3. Show less