Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Abstract

Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta. Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed. StreszczenieZespół Turnera jest rzadko spotykanym schorzeniem o podłożu genetycznym u kobiet, u których występują między innymi zaburzenia wzrastania, płodności oraz zaburzenia w rozwoju układu sercowo-naczyniowego. Obecnie uważa się, że zespół Turnera jest niezależnym czynnikiem ryzyka rozwoju chorób układu sercowo-naczyniowego. Pomimo istotnego ryzyka rozwoju powikłań, które mogą nawet zagrażać życiu młodych pacjentek, wiele z nich odsyłanych jest do domu bez pogłębionej diagnostyki w kierunku zaburzeń w układzie sercowo-naczyniowym. Należy zauważyć, że chociaż wymiary aorty wstępującej są u wielu pacjentek obarczonych zespołem Turnera prawidłowe, to po uwzględnieniu rzeczywistych wymiarów ciała pacjentki można stwierdzić, że u części z nich aorta jest poszerzona. Opublikowane ostatnio wyniki badań oraz zalecenia kliniczne wskazują na przydatność rezonansu magnetycznego (MRI, magnetic resonance imaging) w diagnostyce zmian organicznych aorty. W publikacji omówiono także nowe możliwości terapeutyczne w przypadku występowania zmian w aorcie, co mogłoby usprawnić leczenie pacjentek z zespołem Turnera. W dziedzinie diagnostyki i leczenia tego zaburzenia genetycznego istnieje jednak nadal wiele nierozwiązanych zagadnień, dlatego też konieczne jest prowadzenie dalszych badań, także o charakterze prospektywnym. Epidemiology, diagnosis and genetics of Turner syndromeTurner syndrome (TS) is a rare congenital disorder caused by sex chromosome haploinsufficiency in a phenotypic female, associated with characteristic clinical features: short stature, primary amenorrhoea and cardiovascular pathology [1,2].The prevalence of TS is 50 per 100,000 live born females in Caucasian populations [2,7]. Prenatal prevalence is much higher than the postnatal, because of the frequent intrauterine mortality [1,37]. If TS is suspected in the intrauterine period, postnatal confirmation must be done [3]. Postnatal diagnosis requires a standard 30-cell karyotype which identifies at least 10% mosaicism with 95% confidence [5,6]. Specific clini...

Aortic elasticity deterioration proves intrinsic abnormality of the ascending aorta in pediatric Turner syndrome unrelated to the aortic valve morphology

“…Regarding both total incidence of CoA in 15% and occurrence in combination with BAV (36%) or TAV (6%), our results were also in line with earlier investigations [ 7 , 8 , 12 , 27 , 30 ]. Although our study cohort showed a low rate of confirmed hypertension in a 24-h measurement with 7% compared to earlier studies in adolescents, it displays comparable inadequate nocturnal dipping in 48% [ 7 , 13 ].…”

“…Our study cohort depicts a frequency of risk factors for dilatation and dissection comparable to reports in the literature: The registered incidence of 30% of BAVs in our TS patients was expected based on earlier reports [ 7 – 9 , 27 – 30 ]. Regarding both total incidence of CoA in 15% and occurrence in combination with BAV (36%) or TAV (6%), our results were also in line with earlier investigations [ 7 , 8 , 12 , 27 , 30 ]. Although our study cohort showed a low rate of confirmed hypertension in a 24-h measurement with 7% compared to earlier studies in adolescents, it displays comparable inadequate nocturnal dipping in 48% [ 7 , 13 ].…”

“…Aortic diameter z -scores of the AoR, the STJ, and the AA were significantly larger in TS patients than in controls, although the mean diameters did not reach pathological levels. However, mean levels above a z-score of 2 were reached in the subgroup of TS with BAV at the AA, proving the known [ 7 – 9 , 31 ] highly significant correlation of BAV with aortic dilatation in our study group. Frequencies of dilatation of 15 up to 45% in TS patients have been reported [ 7 , 8 , 32 ].…”

“…Therefore, our study represents a more complete and greater cohort of children and adolescents. Other articles reporting on elasticity in TS chose elasticity measurements like pulse wave velocity or augmentation index [ 14 , 26 ] which are both very much related to body size equations, thus being problematic in TS females due to their smaller stature and the known high frequency of elongation and tortuosity of their aorta, and which do not account for regional differences or abnormalities in arterial wall composition [ 7 , 14 , 27 , 28 ].…”

“…Congenital heart defects occur in 25–45% [ 5 , 6 ] of all live-born TS females, with over-proportionately high numbers of left-sided heart defects such as bicuspid aortic valve (BAV), coarctation of the aorta (CoA), and hypoplastic aortic arch up to the full spectrum of hypoplastic left heart syndrome. The incidence of progressive aortic dilatation, the precursor of the potential fatal dissection, is increased and reported in 15–45% [ 7 – 9 ] of all TS patients, depending on measurement techniques and definition. Aortic dissection is six times more frequent than in the general population, occurring in as early as the second decade of life [ 10 , 11 ].…”