ABSTRACT
BACKGROUND: Hereditary head and neck paragangliomas (HNP) are very often associated with pheochromocytoma-paraganglioma syndromes, which are caused by mutations in genes encoding subunits of succinate dehydrogenase (SDHx) complex. The aim of this study was to determine the frequency and location of HNP among SDHx carriers. MATERIAL/METHODS: A total of 72 patients with SDHx mutations underwent computed tomography examinations of the head and neck. HNP were present in 44 (61.1%) out of 72 patients (31 SDHD, 11 SDHB, 2 SDHC); 113 HNP were found; the most common were carotid paragangliomas (59) and vagal paragangliomas (27). RESULTS: The HNP were statistically more frequent in carriers of SDHD mutations compared to carriers of SDHB mutations (72.1% vs. 43.5%, p=0.033). Multiple tumors more often occurred in patients with SDHD mutations 26/31 (83.9%) than in patients with SDHB mutations 6/11 (54.5%) p=0.05. There was a significant difference in the prevalence of carotid paragangliomas between patients with SDHB and SDHD mutations (7/11 [63.6%] vs. 30/31 [96.8%], respectively, p=0.004). Patients with SDHD mutations more often had carotid paragangliomas located on the left side than on the right side, as compared to SDHB mutations 25/31 (80.6%) vs. 4/11 (36.4%), p=0.006. CONCLUSIONS: SDHx mutations predispose to multifocal and bilateral HNP. Carotid and vagal paragangliomas occurred most often. Patients with SDHD mutations are characterized by higher frequency of HNP than patients with SDHB mutations, which is mainly driven by higher frequency of carotid body tumors in patients with SDHD mutations. No difference in the frequency of head and neck paragangliomas in other locations was found.
ABSTRACT
PURPOSE: The aim of this study was to assess the prevalence of variants and anomalies of the coronary arteries in patients with bicuspid aortic valve (BAV) and compare it with patients with tricuspid aortic valve (TAV). MATERIALS AND METHODS: A total of 428 patients (193 with BAV, 235 with TAV) who underwent coronary computed tomography angiography were analyzed. RESULTS: The right coronary artery was dominant in 360 (84.1%) cases, including 157 (81.34%) with BAV and 203 (86.38%) with TAV. Left dominance was observed in 51 (11.9%) patients, including 30 (15.54%) with BAV 21 (8.93%) with TAV (P=0.08), and codominance in 17 (4%). The mean length of the left main coronary artery (LMCA) in patients with BAV was 10.45±6.93 versus 12.02±5.12 mm in those with TAV (P=0.008). The absence of the LMCA with separate origins of the left artery descending and the left circumflex artery was observed in 18 cases, 14/193 (7.3%) with BAV and 4/235 (1.7%) with TAV (P=0.004). The ramus intermedius was present in 50 (11.7%) patients, 29 with BAV (15%) and 21 with TAV (8.9%) (P=0.05). Coronary artery anomalies were observed in 2.1% of all patients (5/193 with BAV vs. 4/235 with TAV, P=0.5). CONCLUSIONS: The prevalence of anomalies of coronary arteries was similar in both groups. Patients with BAV had a higher incidence of the absence of the LMCA and the presence of the ramus intrermedius. The mean length of the LMCA in patients with BAV was shorter than in patients with TAV. There was a trend for a higher incidence of left dominance in patients with BAV compared to those with TAV, but did not reach statistical significance.
