{"id":54,"date":"2016-10-17T15:48:00","date_gmt":"2016-10-17T15:48:00","guid":{"rendered":""},"modified":"2026-08-20T16:48:50","modified_gmt":"2026-08-20T14:48:50","slug":"il-nostro-studio-sulla-sindrome-di-kleefstra","status":"publish","type":"post","link":"https:\/\/kleefstrasyndrome.com\/it\/our-kleefstra-syndrome-study\/","title":{"rendered":"Il nostro caso: fistole coronariche multiple in una bambina affetta dalla sindrome di Kleefstra"},"content":{"rendered":"<div class=\"wp-block-group case-report-page\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<div class=\"wp-block-group case-report-page\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<div class=\"wp-block-columns case-intro is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:100%\"><div class=\"wp-block-image is-style-bottom-wave\">\n<figure class=\"alignleft size-large is-resized\"><img fetchpriority=\"high\" decoding=\"async\" width=\"768\" height=\"1024\" src=\"http:\/\/kleefstrasyndrome.com\/wp-content\/uploads\/2022\/08\/20160306_110847-1-768x1024.jpg\" alt=\"\" class=\"wp-image-446\" style=\"width:361px;height:481px\"\/><figcaption class=\"wp-element-caption\">La nostra piccola Christina<\/figcaption><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">Come ho scritto nel&nbsp;<a rel=\"noreferrer noopener\" href=\"http:\/\/kleefstrasyndrome.com\/it\/linizio\/\" target=\"_blank\">prima&nbsp;<\/a>Al momento della pubblicazione di questo blog, la nostra bambina presentava una cardiopatia rara congenita. I&nbsp;<strong>fistole coronariche multiple<\/strong>. La rarit\u00e0 della sindrome, unita alla comparsa di questa rara cardiopatia, per la prima volta in un soggetto affetto dalla sindrome di Kleefstra, ha portato alla pubblicazione del seguente caso clinico da parte della neurologa, che la seguiva regolarmente, e dei suoi collaboratori.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Efthimia Vargiami e i suoi collaboratori descrivono nel loro articolo le anomalie dell\u2019arteria coronaria, che non erano mai state segnalate in precedenza in un soggetto affetto dalla sindrome di Kleefstra. La cardiopatia della bambina comprende fistole coronariche multiple, un difetto del setto interventricolare (VSD) e un dotto arterioso pervio.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Nella presentazione del nostro caso, i medici descrivono brevemente l&#x27;anamnesi.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Secondo questa relazione, la gravidanza \u00e8 stata complicata dalla rottura delle membrane otto settimane prima del parto. Christina \u00e8 nata alla 37\u00aa settimana con parto cesareo, a causa di un precedente intervento chirurgico alla colonna vertebrale della madre. Alla quarta ora di vita ha manifestato una tachipnea transitoria ed \u00e8 stata ricoverata nell\u2019Unit\u00e0 di Terapia Intensiva Neonatale. Il quinto giorno ha manifestato difficolt\u00e0 nell\u2019alimentazione ed \u00e8 stata dimessa due settimane dopo in buone condizioni.\u00a0<\/p>\n<\/div>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\">La visita pediatrica di routine all\u2019et\u00e0 di 3 mesi ha rivelato un soffio cardiaco sistolico (di intensit\u00e0 3\/6). \u00c8 stato quindi eseguito un ecocardiogramma che ha evidenziato la presenza di fistole coronariche multiple, che hanno origine dall\u2019arteria coronaria principale sinistra e convogliano il sangue nel ventricolo sinistro. Il ventricolo sinistro era marginalmente ipertrofico ma manteneva una normale contrattilit\u00e0.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">L&#x27;arteria coronaria sinistra presentava una lieve dilatazione con un diametro delle aperture pari a 3,8 millimetri. Inoltre, la paziente presentava molteplici piccoli difetti interventricolari, nonch\u00e9 un dotto arterioso aperto e un forame ovale pervio, entrambi emodinamicamente irrilevanti (Forame ovale pervio \u2013 PFO). Le valvole erano normali. I suddetti reperti erano stati confermati da un\u2019angiografia eseguita all\u2019et\u00e0 di 4 mesi.<strong>&nbsp;<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>In conclusione, la relazione evidenzia una cardiopatia complessa che comprende fistole coronariche multiple, una lieve dilatazione dell\u2019arteria coronaria sinistra, difetti del setto interventricolare e interatriale (VSD\u2013ASD) e un dotto arterioso pervio. Tuttavia, la cardiopatia era asintomatica e non si \u00e8 ritenuto necessario ricorrere a terapia farmacologica o interventistica.<\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Oltre alla cardiopatia, erano presenti anche ulteriori reperti clinici che, secondo il referto, includono caratteristiche dismorfiche (ipertelorismo, ipoplasia del midface, naso corto con narici inclinate verso l\u2019alto, labbro superiore triangolare,angoli della bocca rivolti verso il basso, palato alto e arcuato, anomalie dentali, clinodattilia del 4\u00b0<sup>di<\/sup>\u00a0e 5<sup>di<\/sup>\u00a0dita dei piedi su entrambi i lati), ipotonia, significativo rilassamento cutaneo, ipermobilit\u00e0 articolare, ritardo psicomotorio e microcefalia-brachicefalia progressiva a partire dai 4 mesi di et\u00e0. Alla luce di tali reperti, \u00e8 stata effettuata un\u2019analisi molecolare SNP del cariotipo, utilizzando la tecnologia Illumina Human OmniExp-12 v2 BeadChips microarray con risoluzione mediana di 4 Kb.\u00a0<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Secondo il rapporto, l\u2019analisi ha evidenziato una micromutazione nella regione 9q34.3, indicata nella pubblicazione come 0,55 Mb (139.518.965-141.066.491), che comprende anche la regione critica per l\u2019insorgenza della sindrome di Kleefstra. Le analisi effettuate sui genitori hanno confermato l\u2019origine de novo della delezione.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La successiva visita, effettuata all\u2019et\u00e0 di 10 mesi, comprendeva una risonanza magnetica cerebrale, un elettroencefalogramma e i potenziali uditivi e visivi, tutti risultati nella norma. A causa della microcefalia, la paziente \u00e8 stata sottoposta a una tomografia assiale tridimensionale, che ha evidenziato la fusione di entrambe le suture coronali. Secondo il referto, all\u2019et\u00e0 di 14 mesi ha avuto un episodio di epilessia tonico-clonica generalizzata, confermato dall\u2019attivit\u00e0 parossistica rilevata nell\u2019elettroencefalogramma effettuato dopo la crisi (postictale). \u00c8 stata avviata una terapia con sodio valproato e, fino al momento della pubblicazione, non sono stati segnalati nuovi episodi.\u00a0<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">All\u2019et\u00e0 di 20 mesi, secondo la relazione, Cristina presentava un ritardo psicomotorio da moderato a grave con ipotonia, scarsa risposta agli stimoli visivi e uditivi e un vocabolario limitato a 1-2 parole. Aveva un controllo moderato della testa e scarso controllo del tronco, ma riusciva a stare seduta con un sostegno. La circonferenza cranica era inferiore a 3<sup>\u03b7<\/sup>\u00a0posizione percentuale; il suo peso e la sua altezza si attestavano al 97\u00b0<sup>\u03b7<\/sup>\u00a0e 75<sup>\u03b7<\/sup>\u00a0posizione percentuale, rispettivamente. Per quanto riguarda la cardiopatia, la patologia rimaneva asintomatica e la maggior parte delle microsistemi presentava una regressione graduale e spontanea.\u00a0<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Nella conclusione di questo rapporto, Vargiami e i suoi collaboratori fanno riferimento allo studio di Willemsen e dei suoi collaboratori. Il ricercatore presenta i risultati di uno studio condotto su un gruppo di 112 persone. Tra queste 112 persone, circa il 40% presentava problemi cardiaci, principalmente anomalie strutturali, quali difetti interatriali e interventricolari, forame ovale pervio,\u00a0anomalie del dotto arterioso e delle valvole, la tetralogia di Fallot e cos\u00ec via. Manifestazioni pi\u00f9 rare includono una fascia muscolare deviante nel ventricolo sinistro di un soggetto, nonch\u00e9 aritmie cardiache in altri 2 pazienti. I fistole delle arterie coronarie sono anomalie vascolari rare, con una frequenza riportata di circa 0,002% nella popolazione generale.<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p class=\"wp-block-paragraph\">Gli autori sottolineano che questa \u00e8 stata la prima descrizione di microfistole coronariche in un soggetto affetto dalla sindrome di Kleefstra. Tuttavia, sulla base di un solo caso non \u00e8 possibile stabilire con certezza una correlazione tra questo specifico riscontro cardiologico e la sindrome.<\/p>\n<\/blockquote>\n\n\n\n<p class=\"wp-block-paragraph\">Il rapporto completo si trova&nbsp;<a rel=\"noreferrer noopener\" href=\"https:\/\/www.hindawi.com\/journals\/crig\/2016\/3056053\/\" target=\"_blank\">qui<\/a><\/p>\n<\/div><\/div>\n<\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>Come ho scritto nel primo post di questo blog, la nostra bambina soffriva fin dalla nascita di una rara cardiopatia\u2026.<\/p>","protected":false},"author":1,"featured_media":2465,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","footnotes":""},"categories":[9],"tags":[],"class_list":["post-54","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>\u0397 \u03b4\u03b9\u03ba\u03ae \u03bc\u03b1\u03c2 \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7: \u03a0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03ac \u03c3\u03c4\u03b5\u03c6\u03b1\u03bd\u03b9\u03b1\u03af\u03b1 \u03c3\u03c5\u03c1\u03af\u03b3\u03b3\u03b9\u03b1 \u03c3\u03b5 \u03ba\u03bf\u03c1\u03af\u03c4\u03c3\u03b9 \u03bc\u03b5 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf 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