Bikuspidalna aortalna valvula i grješke izlaznog trakta lijeve klijetke u djece – sindrom bikuspidalne aortopatije? [Bicuspid aortic valve and left ventricular outflow tract defects in children - syndrome of bicuspid aortopathy?]

Malčić, Ivan and Grgat, Josipa and Kniewald, Hrvoje and Šarić, Dalibor and Dilber, Daniel and Bartoniček, Dorotea (2015) Bikuspidalna aortalna valvula i grješke izlaznog trakta lijeve klijetke u djece – sindrom bikuspidalne aortopatije? [Bicuspid aortic valve and left ventricular outflow tract defects in children - syndrome of bicuspid aortopathy?]. Liječnički vjesnik, 137 (9-10). pp. 267-275. ISSN 0024-3477

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Abstract

Although bicuspid aortic valve (BAV) is considered the most common congenital heart defect (CHD) in adult age, with the 0.5-2% prevalence, BAV is not part of epidemiological studies of congenital heart defects (CHD) in children. Aortic valvulogenesis disorder is part of the left ventricular outflow tract (LVOT) genetic disorders which include: hypoplastic left heart syndrome (HLHS), aortic stenosis (AS) and insufficiency (AI), dilatation of the ascending aorta (DAA), coaretation of the aorta (CoA), Shone's syndrome (SS), and probably some other disorders. Our observations indicate that BAV related significant pathologic and hemodynamic changes occur in children already. In an 11-year long retrospective study (2000-2011) we have found 229 BAV patients, predominantly males (1.7). The most common BAV associated disorder was CoA (75 patients, 32.6%). Of all the children with BAV, 62.4% (143:229) had hemodynamic alterations on the aortic valve which manifested themselves as aortic stenosis and/or insufficiency. AS is mostly progressive and becomes hemodynamically relevant in childhood age already, while AI is mostly mild and rarely hemodynamically relevant. A large proportion of patients had isolated AS with DAA (21 or 14.7%), while most patients had combined AS and AI (29 or 20.3%). Due to morphological changes on the valve itself and on the adjoining defects, numerous interventional and cardiosurgical procedures have been performed. Their number has been growing with age, in accordance with the expected progression of pathological changes on the valve (AS, AI) or on the aorta (DAA). DAA in children with BAV was found in 76 (33.2%) patients, in various combinations with other associated LVOT anomalies. Already in childhood have the following surgical procedures on children with primary BAV diagnosis been performed : resection of CoA with T-T anastomosis was performed in 56 patients (24.5%); balloon aortic valvuloplasty in 28 patients (12.3%); commissurotomy in 19 patients (8.3%); balloon dilatation of CoA in 15 patients (6.5%); subaortic membrane resection in 11 patients (4.8%); Ross procedure in 8 patients (3.5%); resection of CoA with reconstruction in 8 patients (3.5%); valvuloplasty in 6 patients (2.6%); ascending aortoplasty in 5 patients (2.2%); mechanical valve replacement in 3 patients (1.3%); "subclavian flap" in 3 patients (1.3%); biological aortic valve replacement in 2 patients (0.9%); Bentall procedure in 1 patient (0.4%); David procedure in 1 patient (0.4%). CONTRIBUTION OFTHE STUDY: A BAV finding in children is a predictive factor for a progressive development of morphological changes in various LVOT parts, requiring that in some patients hemodynamic repercussions be removed already in childhood. Conclusion: The term valvular aortopathy, that is bicuspid aortic valve syndrome, should be in use already for children, and the anomaly should be included in epidemiological CHD research.

Abstract in Croatian

Bikuspidalna aortalna valvula (BAV) epidemiološki se ne uvrštava u studije prirođenih srčanih grješaka (PSG) u djece iako se u odrasloj dobi smatra najčešćim PSG-om, s prevalencijom od 0,5 do 2%. Poremećaj aortalne valvulogeneze posljedica je genski uvjetovanih promjena u izlaznom dijelu lijeve klijetke (LVOT) u koje spadaju: sindrom hipoplastičnoga lijevog srca (HLHS), aortalna stenoza (AS) i insuficijencija (AI), dilatacija uzlazne aorte (DAA), koarktacija aorte (CoA), Shoneov sindrom (SS), a vjerojatno i neki drugi poremećaji. Mi smo zapazili da su uz BAV vezane znatne patomorfološke promjene već u dječjoj dobi. U retrospektivnu studiju dugu 11 godina (od 2002. do 2012.) uključeno je 229-ero djece s BAV-om, s predominacijom muških (1,7). Najčešća grješka pridružena BAV-u bila je CoA (75 bolesnika ili 32,6%). Od djece s BAV-om njih 62,4% (143 : 229) imalo je hemodinamske promjene na aortalnoj valvuli koje se očituju kao aortalna stenoza i/ili insuficijencija. AS je većinom progresivan i postaje već u dječjoj dobi hemodinamski važan u dijela bolesnika, a AI je većinom blag i rijetko hemodinamski važan.Velik broj bolesnika imao je izolirani AS uz DAA (21 ili 14,7%), a najveći broj imao je kombinaciju AS-a i AI (29 ili 20,3%). Zbog morfoloških promjena na samoj valvuli i pridruženim grješkama učinjeni su brojni intervencijski i kardiokirurški zahvati. Njihov broj rastao je s dobi, sukladno očekivanoj progresiji patoloških promjena na samoj valvuli (AS, AI) ili na aorti (DAA). Kod djece s BAV-om nalazimo DAA u 76 (33,2%) bolesnika, i to u raznim kombinacijama s drugim grješkama LVOT-a. Uz osnovnu dijagnozu BAV-a već u dječjoj dobi učinjene su ove operacije: resekcija CoA s T-T-anastomozom 56 bolesnika (24,5%), balonska dilatacija BAV-a 28 bolesnika (12,3%), komisurotomija 19 bolesnika (8,3%), balonska dilatacija CoA 15 bolesnika (6,5%), resekcija subaortalne membrane 11 bolesnika (4,8%), operacija prema Rossu 8 bolesnika (3,5%), resekcija CoA s rekonstrukcijom 8 bolesnika (3,5%), valvuloplastika 6 bolesnika (2,6%), plastika ascendentne aorte 5 bolesnika (2,2%), mehanička aortalna valvula 3 bolesnika (1,3%), potključni režanj (subclavian flap) 3 bolesnika (1,3%), biološka aortalna valvula 2 bolesnika (0,9%), operacija prema Bentallu 1 bolesnik (0,4%), operacija prema Davidu 1 bolesnik (0,4%). Doprinos studije: Nalaz BAV-a kod djece prediktivni je čimbenik (navješćivač) progresivnog razvoja morfoloških promjena u različitim dijelovima LVOT-a, s potrebom za uklanjanjem hemodinamskih reperkusija u dijela bolesnika već u dječjoj dobi. Zaključak: Pojam valvularna aortopatija, odnosno sindrom bikuspidalne aortalne valvule trebalo bi rabiti već u dječjoj dobi, a anomaliju valja uključiti u epidemiološka istraživanja PSG-a.

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