Εμβρυική Υπερηχοκαρδιογραφία

Φυσιολογική απεικόνιση της καρδιάς και των μεγάλων αγγείων

Ανωμαλίες που μπορούν να διαγνωστούν στην απεικόνιση των τεσσάρων κοιλοτήτων:
• κολποκοιλιακό έλλειμμα
• σύνδρομο υποπλαστικής αριστερής καρδιάς
• ατρησία τριγλώχινας βαλβίδας
• ανωμαλία μεσοκοιλιακού διαφράγματος
• ανωμαλία Ebstein
• δυσπλασία τριγλώχινας βαλβίδας
• διπλή είσοδος αριστερής κοιλίας

Ανωμαλίες που μπορούν να διαγνωστούν στην απεικόνιση των μεγάλων αγγείων
• μετάθεση των μεγάλων αρτηριών
• τετραλογία Fallot
• κοινός αρτηριακός κορμός
• διπλή έξοδος δεξιάς κοιλίας
• στένωση του ισθμού της αορτής
• στένωση της αορτικής βαλβίδας
• στένωση πνευμονικής βαλβίδας
• δεξί αορτικό τόξο
• επίμονη αριστερή άνω κοίλη φλέβα
• έκτοπη δεξιά υποκλείδιος αρτηρία

Αρρυθμίες:
• πλήρης καρδιακός αποκλεισμός
• υπερκοιλιακή ταχυκαρδία

Φυσιολογική απεικόνιση Καρδιάς και Μεγάλων αγγείων
Μια εγκάρσια τομή της άνω κοιλίας καταδεικνύει το στομάχι που βρίσκεται στα αριστερά του εμβρύου. Η κοιλιακή αορτή βρίσκεται πρόσθια και αριστερά της σπονδυλικής στήλης, με την κάτω κοίλη φλέβα πρόσθια και προς τα δεξιά της αορτής.
• Η καρδιά βρίσκεται στην αριστερή πλευρά του θώρακα, εντός του φυσιολογικού της άξονά (περίπου 45 μοίρες με την σπονδυλική στήλη), και καταλαμβάνει περίπου το ένα τρίτο του θώρακα.
• Οι κόλποι, οι κοιλίες και τα στόμια των κολποκοιλιακών βαλβίδων είναι περίπου ίσου μεγέθους. Το τοίχωμα και το διάφραγμα της καρδιάς έχουν περίπου το ίδιο πάχος.
• Το moderator band, είναι ένας μορφολογικός δείκτης της δεξιάς κοιλίας και πρόκειται για μια μυϊκή μπάντα στην κορυφή της δεξιάς κοιλίας.
• Το μεσοκοιλιακό διάφραγμα απεικονίζεται άθικτο και υπάρχει κανονικό off-setting των κολποκοιλιακών βαλβίδων.
• Το ωοειδές τρήμα καταλαμβάνει περίπου το ένα τρίτο του κολπικού διαφράγματος.
• Η δεξιά και αριστερή πνευμονική φλέβα συνδέονται στο πίσω μέρος του αριστερού κόλπου και στις δύο πλευρές της κατιούσας αορτής στην εικόνα 2D.
Περαιτέρω σάρωση προς το κεφάλι του εμβρύου αποκαλύπτει κανονικές συνδέσεις των μεγάλων αγγείων. Η αορτή είναι το πρώτο αγγείο που απεικονίζεται, ακριβώς πάνω από την προβολή τεσσάρων κοιλοτήτων. Το κοιλιακό διάφραγμα είναι σε συνέχεια με την αορτή. Η πνευμονική αρτηρία, η οποία προκύπτει προσθίως και περνάει πάνω από την αορτή, είναι κοντά στο θωρακικό τοίχωμα και κατευθύνεται πίσω προς τη σπονδυλική στήλη.
Απεικόνιση με Doppler, αποδεικνύει ίση ροή από τους κόλπους προς τις κοιλίες κατά τη διάρκεια της κοιλιακής διαστολής και ροή προς τα εμπρός στα μεγάλα αγγεία, τον αρτηριακό πόρο και το εγκάρσιο τόξο κατά τη συστολή.
Ανωμαλίες που απεικονίζονται κατά την σάρωση των τεσσάρων κοιλοτήτων
Κολποκοιλιακό έλλειμα- AVSD

Κατά τη σάρωση των τεσσάρων κοιλοτήτων, η απώλεια του συμψηφισμού του off-setting των κολποκοιλιακών βαλβίδων υποδεικνύει μια κοινή κολποκοιλιακή βαλβίδα. Υπάρχει ένα μόνο άνοιγμα της βαλβίδας και στις δύο κοιλίες. Σε ένα τυπικό AVSD οι δύο κοιλίες είναι ίσες σε μέγεθος.
Συχνότητα: περίπου 1 στις 5.000 γεννήσεις.
Άλλες ανωμαλίες

Ανεξάρτητα από το μέγεθος των κόλπων ή των κοιλιών, το AVSD συνδέεται με εξωκαρδιακές ανωμαλίες και χρωμοσωμικές ανωμαλίες, κυρίως τρισωμία 21 και 18, σε ποσοστό πάνω από το 80% των περιπτώσεων. Σε AVSD με atrial isomerism, ο καρυότυπος είναι συνήθως φυσιολογικός.
Πρόγνωση
Η πρόγνωση εξαρτάται κυρίως από την παρουσία ή απουσία άλλων ανωμαλιών. Σε περιπτώσεις απομονωμένων AVSD, η επιβίωση μετά από χειρουργική επέμβαση είναι μεγαλύτερη από 95% και η μακροχρόνια έκβαση είναι καλή.

 

Σύνδρομο υποπλαστικής αριστερής καρδιάς – Hypoplastic left heart syndrome
Σε HLHS υπάρχει ένας συνδυασμός σοβαρών αποφρακτικών αλλοιώσεων, συμπεριλαμβανομένων ατρησίας ή σοβαρής στένωσης της μιτροειδούς και της αορτικής βαλβίδας, που συνδέεται με υποπλασία της αριστερής κοιλίας. Κατά τη σάρωση των τεσσάρων κοιλοτήτων, η κολποκοιλιακή βαλβίδα δεν ανοίγει από την αριστερή πλευρά και δεν υπάρχει ροή από τον αριστερό κόλπο στην αριστερή κοιλία με το Doppler. Η αριστερή κοιλία φαίνεται μικρή, υπερηχογενής με κακή συσταλτικότητα. Ο αριστερός κόλπος είναι επίσης μικρός και στο ωοειδές τρήμα υπάρχει ανάστροφη ροής από αριστερά προς τα δεξιά. Περιστασιακά το ωοειδές τρήμα είναι restrictive και ως εκ τούτου ο αριστερός κόλπος φαίνεται μεγαλύτερος.
Ένα επιπλέον στοιχείο της HLHS είναι υποπλασία της ανιούσας αορτής και του αορτικού τόξου. Η αορτή λαμβάνει λιγότερη ροή αίματος από το κανονικό και κατά συνέπεια, φαίνεται να είναι μικρότερη σε σύγκριση με την μεγαλύτερη πνευμονική αρτηρία. Υπάρχει αντίστροφη ροή αίματος στο αορτικό τόξο, καθώς τα αγγεία της κεφαλής και του λαιμού και οι στεφανιαίες αρτηρίες τροφοδοτούνται σε ανάδρομη ροή από τον αρτηριακό πόρο.
Συχνότητα: περίπου 1 στους 10.000 γεννήσεις.
Άλλες ανωμαλίες
Συνδέεται με χρωμοσωμικές ανωμαλίες, κυρίως μονοσωμία Χ και τρισωμία 18.
Πρόγνωση
Μετά τη γέννηση, μόνο παρηγορητική θεραπεία είναι δυνατή. Αυτό συνεπάγεται σταδιακές χειρουργικές επεμβάσεις που οδηγούν σε μία κυκλοφορία κοιλίας (τύπου Fontan). Η ποιότητα της ζωής είναι μειωμένη και το προσδόκιμο ζωής περιοριζεται με συνολική θνησιμότητα 40% στα πρώτα πέντε έτη της ηλικίας.

Ατρησία Τριγλώχινας

Σε ατρησία τριγλώχινας δεν υπάρχει καμία επικοινωνία μεταξύ του δεξιού κόλπου και της δεξιάς κοιλίας. Κατά τη σάρωση των τεσσάρων κοιλοτήτων, δεν υπάρχει κολποκοιλιακό άνοιγμα της βαλβίδας στη δεξιά πλευρά και δεν υπάρχει ροή από το δεξιό κόλπο στη δεξιά κοιλία με το χρώμα Doppler. Η δεξιά κοιλία είναι μικρή, αλλά το μέγεθος της εξαρτάται από το μέγεθος του κοιλιακού διαφραγματικού ελλείματος , το οποίο συνδέεται συνήθως με ατρησία τριγλώχινας. Σε περίπου 20% των περιπτώσεων της ατρησίας τριγλώχινας παρατηρείται μετάθεση των μεγάλων αγγείων.

Συχνότητα: περίπου 1 στις 30.000 γεννήσεις.
Άλλες ανωμαλίες
Δε συνδέεται συνήθως με εξωκαρδιακες ή χρωμοσωμικές ανωμαλίες.
Πρόγνωση
Μετά τη γέννηση, η χειρουργική επέμβαση που οδηγεί σε κυκλοφορία μονήρης κοιλίας (τύπου Fontan) με περιορισμένη ποιότητα της ζωής και την κακή μακροχρόνια έκβαση.
Μεσοκοιλιακή επικοινωνία

Ελλείμματα μεσοκοιλιακού διαφράγματος μπορεί να βρίσκονται οπουδήποτε στο διάφραγμα. Αυτά ποικίλλουν σε μέγεθος και μπορεί να είναι μονήρη ή πολλαπλά. Μόνο τα μέτρια ή μεγάλα ελλείμματα παρατηρούνται συνήθως στο έμβρυο. Τα ελλείμματα συνήθως κατηγοριοποιούνται ανάλογα με τη θέση τους. Οι κατηγορίες είναι περιμεμβρανώδη, doubly commited subarterial και μυώδη.

Περιμεμβρανώδη ελαττώματα βρίσκονται στo μεμβρανώδες τμήμα του κοιλιακού διαφράγματος, πλησίον της τριγλώχινας βαλβίδας, αλλά μπορεί να εκτείνονται στην κοιλιακή εισόδο ή εξόδο. Τα μυϊκά ελλείματα μπορεί να υποδιαιρεθούν σε εξόδου, εισόδου και trabecular. Διπλά ελλείμματα είναι σπάνια και η ανατομία τους συνήθως οριοθετείται μετά τη γέννηση.
Επικράτηση
Τα ελλείμματα μεσοκοιλιακού διαφράγματος διαπιστώθηκαν σε περίπου 1 στις 1000 γεννήσεις.
Άλλες ανωμαλίες
Τα ελλείμματα μεσοκοιλιακού διαφράγματος συνήθως συνδέονται με εξωκαρδιακές και χρωμοσωμικές ανωμαλίες, κυρίως τρισωμία 18 και 21. Ωστόσο, σε έμβρυα με μεμονωμένα ελλείμματα χωρίς άλλα υπερηχογραφικά ευρήματα ή δείκτες ανευπλοειδίας η συχνότητα των χρωμοσωμικών ανωμαλιών είναι χαμηλή.
πρόγνωση
Περίπου το 70% των προγεννητικά διαγνωσμένων VSD είναι είτε ασυμπτωματικά ή κλείνουν αυθόρμητα μέσα στα πρώτα χρόνια της ζωής και δεν απαιτούν καμία θεραπεία. Ωστόσο, αν χρειαστεί, χειρουργική αποκατάσταση για το κλείσιμο των VSD μπορεί αυτό να επιτευχθεί σε πολύ χαμηλή θνησιμότητα (<5%) με μια καλή μακροπρόθεσμη προοπτική.

Ανωμαλίες που παρατηρήθηκαν κατά την απεικόνιση των τεσσάρων κοιλοτήτων
Ανωμαλία Ebstein
Η Ebstein ανωμαλία χαρακτηρίζεται από μία μεταβλητή προς τα κάτω μετατόπιση της συνδέσεως της τριγλώχινας βαλβίδας μέσα στο τμήμα εισροής της δεξιάς κοιλίας. Κατά την απεικόνιση των τεσσάρων κοιλοτήτων, υπάρχει πιο έντονο off-setting της τριγλώχινας βαλβίδας από το κανονικό. Χρώμα ή παλμικό κύμα Doppler μπορεί να δείξει παλινδρόμηση τριγλώχινας, ανάλογα με τη σοβαρότητα της βλάβης. Εάν υπάρχει σημαντική παλινδρόμηση τριγλώχινας, θα υπάρξει διαστολή του δεξιού κόλπου. Σημαντική καρδιομεγαλία μπορεί να προκαλέσει δευτερογενή συμπίεση των πνευμόνων και την επακόλουθη υποπλασία, καθώς και στο έμβρυο ύδρωπα και επακόλουθο θάνατο. Πνευμονική στένωση ή λειτουργική ατρησία θεωρείται συχνά ως ταυτόχρονη βλάβη.
Επικράτηση
Η ανωμαλία Ebstein έχει βρεθεί σε περίπου 1 άλλες 20.000 γεννήσεις.
Άλλες ανωμαλίες
Η ανωμαλία Ebstein δεν συνδέεται συνήθως με άλλες εξωκαρδιακές ή χρωμοσωμικές ανωμαλίες.
Πρόγνωση
Η πρόγνωση εξαρτάται από τη σοβαρότητα της δυσπλασίας. Σοβαρές περιπτώσεις μπορεί να οδηγήσουν σε ενδομήτριο θάνατο του εμβρύου. Από την άλλη πλευρά, ήπια ή μέτρια μορφή ανωμαλίας Ebstein μπορεί να είναι ασυμπτωματική και η χειρουργική θεραπεία μπορεί να μην είναι απαραίτητη.

Δυσπλασία τριγλώχινας βαλβίδας

Στην κατάσταση αυτή, η θέση της τριγλώχινας βαλβίδας είναι φυσιολογική, αλλά οι γλωσσίδες είναι δυσπλαστικές. Η τριγλώχινα βαλβίδα είναι ανεπαρκής, που αποδεικνύεται με έγχρωμο Doppler, και ο δεξιός κόλπο είναι διεσταλμένος. Σημαντική καρδιομεγαλία μπορεί να προκαλέσει δευτερογενή συμπίεση των πνευμόνων και την επακόλουθη υποπλασία αυτών. Σε σοβαρές περιπτώσεις μπορεί να ακολουθήσει εμβρυϊκός ύδρωπας και επακόλουθος θάνατος. Σε σοβαρές περιπτώσεις της δυσπλασίας τριγλώχινας βαλβίδας υπάρχει πνευμονική στένωση ή λειτουργική ατρησία.
Επίπτωση
Αυτή η ανωμαλία βρίσκεται σε λιγότερο από 1 στις 20.000 γεννήσεις.
Άλλες ανωμαλίες
Συνήθως συνδέεται με χρωμοσωμικές ανωμαλίες, κυρίως τρισωμία 18.
Πρόγνωση
Αν η καρδιακή ανωμαλία είναι απομονωμένη, η πρόγνωση είναι αμφιλεγόμενη σε εκείνες τις περιπτώσεις όπου υπάρχει μια σοβαρή ανεπάρκεια τριγλώχινας βαλβίδας και καρδιομεγαλία.

Διπλής Εισόδου Αριστερή Κοιλία

Κατά την απεικόνιση των τεσσάρων κοιλοτήτων, οι δύο κολποκοιλιακές βαλβίδες παροχετεύουν κατά κύριο λόγο σε μία κοιλία, η οποία έχει συνήθως τη μορφολογία αριστερής κοιλίας. Το μεσοκοιλιακό διάφραγμα δε χωρίζει ισομερώς τις δύο κοιλίες και κολποκοιλιακές βαλβίδες. Χρώμα Doppler δείχνει ροή και στις δύο κολποκοιλιακές βαλβίδες στην ίδια κοιλία. Οι μεγάλες αρτηρίες συχνά βρίσκονται σε μετάθεση και η αορτή προκύπτει από την υποτυπώδη κοιλότητα, η οποία λαμβάνει ροή αίματος μόνο μέσω ενός μεσοκοιλιακού ελλείμματος.

Επικράτηση
Αυτό το ελάττωμα βρίσκεται σε περίπου 1 στις 20.000 γεννήσεις.
Άλλες ανωμαλίες
Αυτό το ελάττωμα δεν συνδέεται συνήθως με εξωκαρδιακές ή χρωμοσωμικές ανωμαλίες.

Πρόγνωση
Μετά τη γέννηση, η χειρουργική επέμβαση περιλαμβάνει σταδιακή αποκατάσταση που οδηγεί σε μονήρη κοιλία (τύπου Fontan) με περιορισμένη ποιότητα ζωής και κακή μακροχρόνια έκβαση.

Ανωμαλίες στις μεγάλες αρτηρίες 

Μετάθεση των μεγάλων αρτηριών

Σε απλή TGA η αορτή προκύπτει από τη δεξιά κοιλία και η πνευμονική αρτηρία προκύπτει από την αριστερή κοιλία. Η απεικόνιση των τεσσάρων κοιλοτήτων είναι συνήθως φυσιολογική. Η πρώτη μεγάλη αρτηρία πάνω από το επίπεδο της εικόνας των τεσσάρων κοιλοτήτων είναι η διακλάδωση της πνευμονικής αρτηρίας. Η αορτή προέρχεται από την δεξιά κοιλία στη συνέχεια με το αορτικό τόξο και τα αγγεία κεφαλής και του λαιμού. Δεν υπάρχει κανονική »διέλευση πάνω» από τις μεγάλες αρτηρίες, όπως αυτές προκύπτουν παράλληλα. Η «όψη τριών αγγείων» είναι ανώμαλη, επειδή η αρτηρία και ο αρτηριακός πόρος είναι κάτω από την αορτή και το αορτικό τόξο.
Επικράτηση
Αυτό το ελάττωμα βρίσκεται σε περίπου 1 στις 10.000 γεννήσεις.
Άλλες ανωμαλίες
Αυτό το ελάττωμα σπάνια σχετίζεται με εξωκαρδιακές ή χρωμοσωμικές ανωμαλίες.
Πρόγνωση
Απλή TGA απαιτεί χειρουργική θεραπεία (θνησιμότητα είναι μικρότερη από 5%), κατά τις πρώτες εβδομάδες της ζωής και το μακροπρόθεσμο αποτέλεσμα είναι καλό. Σε περιπτώσεις όπου υπάρχουν επιπρόσθετα ευρήματα, όπως ελλείμματα μεσοκοιλιακού διαφράγματος και πνευμονική στένωση το αποτέλεσμα είναι λιγότερο ευνοϊκό.

Τετραλογία Fallot

Στην εμβρυϊκή ζωή απεικονίζονται μόνο τρία χαρακτηριστικά του ΤΟF: περιμεμβρανώδες VSD, εφιππεύουσα αορτή και μικρή πνευμονική αρτηρία. Το τέταρτο χαρακτηριστικό της TOF, δεξιά κοιλιακή υπερτροφία, φαίνεται μόνο μετά τη γέννηση.
Η όψη τεσσάρων θαλάμων είναι συνήθως φυσιολογική, καθώς το VSD βρίσκεται στο μεμβρανώδες μέρος του διαφράγματος, εκτός όταν TOF συνδέεται με AVSD. Ο καρδιακός άξονας είναι συχνά παρεκτοπισμένος προς τα αριστερά. Η πρώτη μεγάλη αρτηρία (αορτή) απορρέει από το κέντρο της καρδιάς και κάθεται επάνω στην κορυφή του μεσοκοιλιακού διαφράγματος (εφιππεύουσα αορτή) πάνω από το VSD. Οι μεγάλες αρτηρίες συνδέονται κανονικά, αλλά η πνευμονική αρτηρία είναι μικρότερη από την συνήθως διευρυμένη αορτή.
Επικράτηση
Αυτό το ελάττωμα βρίσκεται σε περίπου 1 στις 3.000 γεννήσεις.
Άλλες ανωμαλίες
Οι εξωκαρδιακές , χρωμοσωμικές ανωμαλίες και γενετικές παθήσεις, συμπεριλαμβανομένων τη μικροέλλειψη 22q11.2, ανευρίσκονται στο 30% των περιπτώσεων του ΤΟF.
Πρόγνωση
Κλασικό TOF (με πνευμονική στένωση) συνήθως απαιτεί χειρουργική αποκατάσταση (θνησιμότητας <5%) κατά τη διάρκεια του πρώτου έτους της ζωής με μια καλή μακροπρόθεσμη έκβαση. Ωστόσο, σε περίπλοκες περιπτώσεις TOF (με ατρησία της πνευμονικής ή σύνδρομο απούσας πνευμονικής βαλβίδας) περισσότερες από μία επέμβασεις είναι συνήθως απαραίτητες με λιγότερο ευνοϊκό αποτέλεσμα.
Κοινός Αρτηριακός Κορμός

Στην κατάσταση αυτή, μόνο μία μεγάλη αρτηρία προκύπτει από την καρδιά, η οποία στη συνέχεια διχάζεται τόσο στην αορτή και την πνευμονική αρτηρία. Η μόνη αρτηριακή βαλβίδα (κορμού βαλβίδας) είναι συνήθως στενωμένη αλλά μπορεί να είναι ακόμη και δυσπλαστική. Έτσι, σε έγχρωμο Doppler παλινδρόμηση της αρτηριακής βαλβίδας μπορεί να φαίνεται.
Παρακαλώ σημειώστε ότι, όπως και στην τετραλογία Fallot, η άποψη των τεσσάρων κοιλοτήτων είναι συνήθως φυσιολογική, όπως και το έλλειμμα μεσοκοιλιακού διαφράγματος βρίσκεται στο μεμβρανώδες μέρος του διαφράγματος. Ο καρδιακός άξονας μπορεί να μετατοπιστεί προς τα αριστερά. Η μόνη μεγάλη αρτηρία (κοινός κορμός) απορρέει από το κέντρο της καρδιάς και κάθεται επάνω στην κορυφή του μεσοκοιλιακού διαφράγματος (εφιππεύουσα) πάνω από το μεσοκοιλιακό διάφραγμα.
Επικράτηση
Κοινός αρτηριακός κορμός βρίσκεται σε περίπου 1 στις 10.000 γεννήσεις.
Άλλες ανωμαλίες
Σε ποσοστό έως 30% των περιπτώσεων του κοινού αρτηριακού κορμού υπάρχουν εξωκαρδιακές , χρωμοσωμικές ανωμαλίες και γενετικές παθήσεις, συμπεριλαμβανομένης της μικροέλλειψης 22q11.2.

Πρόγνωση
Η αμφικοιλιακή επισκευή κοινού αρτηριακού κορμού είναι συνήθως δυνατή με χαμηλή χειρουργική θνητότητα (λιγότερο από 5%). Ωστόσο, αυτή η καρδιακή δυσπλασία θα απαιτεί επανειλημμένες χειρουργικές επεμβάσεις σε όλη τη ζωή. Το προσδόκιμο ζωής δεν μπορεί να μειωθεί, αλλά σε ορισμένες περιπτώσεις, το λειτουργικό αποτέλεσμα είναι λιγότερο ευνοϊκό.

Διπλής εξόδου Δεξιά κοιλία( DORV)

Σε αυτή την κατάσταση, και οι δύο μεγάλες αρτηρίες προκύπτουν πλήρως ή κυρίως από τη μορφολογικά δεξιά κοιλία. Μια έλλειψη μεσοκοιλιακού διαφράγματος συνήθως συνυπάρχει.
Επικράτηση
Αυτό το ελάττωμα βρίσκεται σε λιγότερο από 1 στις 10.000 γεννήσεις.
Άλλες ανωμαλίες
Συσχετιζόμενες χρωμοσωμικές ανωμαλίες, κυρίως τρισωμίες 21 και 18 και μικροέλλειψη 22q11.2, βρίσκονται σε περίπου 10-20% των εμβρύων. Σε τέτοιες περιπτώσεις, συνήθως υπάρχουν και άλλες δομικές ανωμαλίες ή δείκτες ανευπλοειδίας.
Πρόγνωση
Αυτό το ελάττωμα συνυπάρχει με μεγάλη ποικιλία καρδιακών διαμορφώσεων και η εκάστοτε ανατομία υπαγορεύει την προσέγγιση για τη χειρουργική επέμβαση μετά τη γέννηση. Αν οι κοιλίες είναι σε ισορροπία, η χειρουργική θεραπεία είναι συνήθως ευνοϊκή με καλή μακροπρόθεσμη έκβαση. Από την άλλη πλευρά, σε περιπτώσεις με σοβαρή υποπλασία της αριστερής ή δεξιάς κοιλίας, η χειρουργική επέμβαση με αποτέλεσμα κυκλοφορία σε μονήρη κοιλία (τύπου Fontan), συνδέεται με μειωμένη ποιότητα ζωής και χαμηλό προσδόκιμο επιβίωσης.

Στένωση του ισθμού της αορτής

Πρόκειται για στένωση του αορτικού τόξου στην περιοχή του ισθμού, μεταξύ της προέλευσης της αριστερής υποκλείδιας αρτηρίας και την εισαγωγή του αρτηριακού πόρου. Στο έμβρυο ο πιο αξιόπιστος τρόπος για να αξιολογηθεί το αορτικό τόξο είναι στην εγκάρσια όψη του ανώτερου θώρακα, όπου το μέγεθος του τόξου και του αρτηριακού πόρου μπορεί να συγκριθεί. Στη στένωση, το αορτικό τόξο είναι μικρότερο από το κανονικό και μικρότερο από το αρτηριακό πόρο. Παλμικό και έγχρωμο Doppler καταδεικνύει πρόσθιες ροές κατά μήκος της αορτικής βαλβίδας και μέσα στο αορτικό τόξο. Σε γενικές γραμμές, η διάγνωση της στένωσης στην εμβρυϊκή ζωή είναι δύσκολη και πρέπει να αποδειχθεί ή να καταρριφθεί μετά τη γέννηση.
επικράτηση
Στένωση του ισθμού της αορτής βρίσκεται σε περίπου 2 στις 10.000 γεννήσεις.
Άλλες ανωμαλίες
Στένωση μπορεί να αποτελεί μεμονωμένο ελάττωμα ή μέρος πολλαπλών ανωμαλιών στο έμβρυο. Σε περιπτώσεις με αυξημένη αυχενική διαφάνεια ή κυστικό ύγρωμα υπάρχει μια συσχέτιση με μονοσωμία X.
Πρόγνωση
Χειρουργική αποκατάσταση συνδέεται με καλά αποτελέσματα (θνησιμότητα μικρότερη από 2%) και καλή μακροχρόνια έκβαση.

Στένωση της αορτικής βαλβίδας

Αορτική στένωση της βαλβίδας είναι μια στένωση στο επίπεδο της βαλβίδας. Η αορτική βαλβίδα εμφανίζεται πεπαχυσμένη και δεν «εξαφανίζεται» κατά τη συστολή. Το έγχρωμο Doppler δείχνει στροβιλώδη ροή PW Doppler σε όλες τις παραστάσεις της βαλβίδας αυξημένης ταχύτητας (?100 cm / sec) κατά το δεύτερο τρίμηνο. Η σοβαρότητα της αορτικής στένωσης κυμαίνεται από ήπια έως σοβαρή. Αυτή είναι μια εξελισσόμενη βλάβη η οποία μπορεί να εξελιχθεί κατά τη διάρκεια της εγκυμοσύνης σε πιο σοβαρή στένωση ή σε ατρησία της αορτικής βαλβίδας.
επικράτηση
Μεμονωμένη αορτική στένωση βρίσκεται σε περίπου 1 στις 10.000 γεννήσεις.
Άλλες ανωμαλίες
Η αορτική στένωση σπάνια σχετίζεται με εξωκαρδιακές και γενετικές παθήσεις.
Πρόγνωση
Αν η λειτουργία της αριστεράς κοιλίας διατηρείται, βαλβιδοπλαστική με μπαλόνι μπορεί να πραγματοποιηθεί, είτε στη νεογνική περίοδο ή αργότερα στην παιδική ηλικία ή ακόμη και κατά την ενηλικίωση με καλή μακροπρόθεσμη έκβαση. Σε κρίσιμη στένωση αορτής με μειωμένη λειτουργία της αριστερής κοιλίας η θεραπεία είναι παρόμοια με εκείνη του συνδρόμου υποπλαστικής αριστεράς καρδιάς (Fontan κυκλοφορία) με αμφιλεγόμενη μακροχρόνια έκβαση και περιορισμό του προσδόκιμου ζωής.

Στένωση Πνευμονικής βαλβίδας

Στένωση πνευμονικής βαλβίδας με ανέπαφο το κοιλιακό διάφραγμα είναι μια στένωση στο επίπεδο της βαλβίδας. Η πνευμονική βαλβίδα είναι πεπαχυσμένη και δεν «εξαφανίζεται» σε συστολή. Χρώμα Doppler δείχνει στροβιλώδη ροή σε όλο τον αρτηριακό πόρο και PW Doppler στη βαλβίδα επιδεικνύει αυξημένη ταχύτητα ροής (?100 cm / sec στο δεύτερο τρίμηνο). Η σοβαρότητα της πνευμονικής στένωσης κυμαίνεται από ήπια έως σοβαρή. Αυτή είναι μια εξελισσόμενη βλάβη και μπορεί να εξελιχθεί κατά τη διάρκεια της εγκυμοσύνης σε πιο σοβαρή στένωση ή να μετατραπεί σε ατρησία της πνευμονικής βαλβίδας.
Σε περιπτώσεις όπου η στένωση της πνευμονικής αρτηρίας είναι είτε ήπια ή μέτρια, μπορεί να φαίνεται φυσιολογική η δεξιά κοιλία. Ωστόσο, αν πνευμονική στένωση είναι σοβαρή μπορεί να υπάρχει υπερτροφία της δεξιάς κοιλίας και παλινδρόμηση της τριγλώχινας βαλβίδας. Μειωμένη λειτουργίας της δεξιάς κοιλίας μπορεί να παρατηρηθεί σε ορισμένες περιπτώσεις.
Επικράτηση
Πνευμονική στένωση με ακεραιότητα μεσοκοιλιακού διαφράγματος βρίσκεται σε περίπου 6 στις 100.000 γεννήσεις.
Άλλες ανωμαλίες
Πνευμονική στένωση με ακέραιο μεσοκοιλιακό διάφράγμα συνδέεται με γενετικές παθήσεις, όπως το σύνδρομο Noonan ή σύνδρομο Williams.
Πρόγνωση
Σε ασθενείς με ήπια και μέτρια πνευμονική στένωση η διαχείριση είναι συντηρητική. Σε σοβαρή πνευμονική στένωση με διατηρητέα τη λειτουργία της δεξιάς κοιλίας, η θεραπεία εκλογής είναι η βαλβιδοπλαστική με μπαλόνι με καλή μακροπρόθεσμη έκβαση. Σε σοβαρή πνευμονική στένωση ή ατρησία με δεξιά κοιλιακή υπερτροφία και διαταραγμένη λειτουργία, χειρουργική αποκατάσταση σε μία κοιλία (Fontan κυκλοφορία) είναι συνήθως απαραίτητη και το προσδόκιμο ζωής είναι περιορισμένο.

Δεξιό αορτικό τόξο

Στο δεξί αορτικό τόξο η αορτή παραμένει στη δεξιά πλευρά της τραχείας. Η διακλάδωση είναι μια κατοπτρική εικόνα με εκείνη ενός αριστερού τόξου, αλλά σε περίπου 25% των περιπτώσεων υπάρχει μια παρεκκλίνουσα αριστερή υποκλείδια αρτηρία. Στο δεξιό αορτικό τόξο υπάρχει ένα σχήμα «U» στην «όψη τριών αγγείων » και οφείλεται σε αριστερό αρτηριακό πόρο συνδεόμενο με την κατιούσα αορτή πίσω από την τραχεία.
επικράτηση
Αυτό το ελάττωμα βρίσκεται σε περίπου 1 στις 1000 γεννήσεις.
Άλλες ανωμαλίες
Αυτό το ελάττωμα σχετίζεται με μικροέλλειψη 22q11.2, ειδικά σε περιπτώσεις με χαμηλή αναλογία θύμου αδένα-θώρακα.
πρόγνωση
Δεξιό αορτικό τόξο είναι συχνά χωρίς κλινική σημασία. Ωστόσο, συμπτωματικός αγγειακός δακτύλιος μπορεί να συμβεί κατά την παιδική ηλικία.

Εμμένουσα Αριστερά άνω κοίλη φλέβα (PLSVC)

Η αριστερή άνω κοίλη φλέβα είναι καρδιακό εύρημα, το οποίο φαίνεται κατά την απεικόνιση των μεγάλων αρτηριών. Η παροχέτευση της PLSVC στον στεφανιαίο κόλπο πίσω από τον αριστερό κόλπο, και ως εκ τούτου της στεφανιαίας αρτηρίας, εμφανίζεται διευρυμένη κατά την άποψη των τεσσάρων κοιλοτήτων. Στην απεικόνιση «των τριών αγγείων» το εγγύτερο τμήμα του PLSVC θεωρείται ως τέταρτο αγγείο.
Επικράτηση
PLSVC βρίσκεται σε περίπου 1 στις 300 γεννήσεις.
Άλλες ανωμαλίες
Συνδεδεμένη χρωμοσωμική ανωμαλία είναι κυρίως τρισωμία 18, αλλά σε αυτές τις περιπτώσεις υπάρχουν συνήθως άλλες ανωμαλίες ή δείκτες ανευπλοειδίας.
Πρόγνωση
PLSVC είναι συχνά μέρος των σοβαρών καρδιακών ανωμαλιών, όπως η στένωση του ισθμού της αορτής, υποπλαστικού συνδρόμου αριστερής καρδιάς ή διπλής εξόδου της δεξιάς κοιλίας. Ωστόσο, PLSVC ως ένα μεμονωμένο καρδιακή εύρημα δεν έχει καμία κλινική σημασία και δεν απαιτεί μεταγεννητική παρακολούθηση.

Δεξιά Υποκλείδιος Αρτηρία

Μια έκτοπος δεξιά υποκλείδια αρτηρία (ARSA) είναι καρδιακό εύρημα, το οποίο μπορεί να χαρακτηριστεί ως ανατομική παραλλαγή παρά ως αληθινή ανωμαλία. Μπορεί να είναι μεμονωμένο εύρημα ή μέρος ενδοκαρδιακής ανωμαλίας.
Η δεξιά υποκλείδια αρτηρία προκύπτει συνήθως πάνω από το επίπεδο του αορτικού τόξου, ως η πρώτη διακλάδωση από την ανώνυμη (ή brachiocephalic αρτηρία), η οποία με τη σειρά της είναι το πρώτο αγγείο που προκύπτει από το αορτικό τόξο. Η ARSA προκύπτει ανώμαλα ως τέταρτο σκέλος του αορτικού τόξου στο επίπεδο του αρτηριακού πόρου. Σε αντίθεση με το κανονικό αγγείο, το οποίο βρίσκεται στο επίπεδο των ώμων και κατευθύνεται σχεδόν οριζόντια προς τα δεξιά, η έκτοπος δεξιά υποκλείδιος αρτηρία προκύπτει από το πρώτο τμήμα της κατιούσας αορτής και περνά πίσω από την τραχεία και κρανιακά καθώς και προς τα δεξιά. Ως εκ τούτου, η πορεία της ARSA δεν θα μπορούσε να φανεί σε μια τυπική άποψη κατά τον επιμήκη άξονα του αορτικού τόξου.
Επικράτηση
ARSA βρίσκεται σε περίπου 1 στις 100 γεννήσεις.
Άλλες ανωμαλίες
ARSA παρατηρείται στο 30% των εμβρύων με τρισωμία 21. Ο λόγος πιθανότητας για τρισωμία 21 με ARSA απουσία άλλων ελαττωμάτων ή δεικτών ανευπλοειδίας είναι περίπου 4. Υπάρχει επίσης μια πιθανή συσχέτιση μεταξύ ARSA και μικροέλλειψης 22q11.2.
Πρόγνωση
Δεν υπάρχουν αρνητικές συνέπειες της ARSA. Σπάνια, δυσφαγία που προκαλείται από τη συμπίεση της τραχείας και του οισοφάγου μπορεί να συμβεί.

Aρρυθμίες

Πλήρης καρδιακός αποκλεισμός (CHB)

Στην CHB, υπάρχει πλήρης διαχωρισμός μεταξύ κολπικών και κοιλιακών συστολών. Η κοιλιακή συχνότητα είναι τακτική, αλλά αργή (40 έως 90 παλμούς ανά λεπτό) και δεν είναι ακριβώς το μισό του κολπικού ρυθμού. Πλήρης καρδιακός αποκλεισμός μπορεί να συμβεί σε έμβρυα με δομικά φυσιολογική καρδιά ή σε συγγενή καρδιοπάθεια. Η συνηθέστερη καρδιακή ανωμαλία είναι ο κολπικός ισομερισμός, ο οποίος μπορεί να βρεθεί το πρώτο τρίμηνο ή αργότερα στην κύηση.
Στο 90% των απομονωμένων CHB, η κατάσταση προκαλείται από την παρουσία των μητρικών αυτοαντισωμάτων αντι-Ro (SS-α) ή αντι-La (SS-Β). Οι περισσότερες μητέρες είναι ασυμπτωματικες. Σε έμβρυα με καρδιακές ανωμαλίες, CHB μπορεί να εμφανιστεί το πρώτο τρίμηνο, ενώ στην περίπτωση των απομονωμένων, αυτοαντισωμάτων που σχετίζονται με ΣΕΛ η κατάσταση παρουσιάζεται συνήθως στο δεύτερο τρίμηνο.
Η θέα των τεσσάρων κοιλοτήτων επιβεβαιώνει καρδιομεγαλία και τυπικά υπερηχογενείς εστίες στο μυοκάρδιο. Σε ορισμένες περιπτώσεις, υπάρχει μια προοδευτική κοιλιακή δυσλειτουργία και καρδιομεγαλία, κολποκοιλιακή παλινδρόμηση της βαλβίδας με αποτέλεσμα περικαρδιακή συλλογή και εμβρυϊκό ύδρωπα.
Επικράτηση
Πλήρης καρδιακός αποκλεισμός βρίσκεται σε περίπου 1 στις 20.000 γεννήσεις.

Άλλες ανωμαλίες
Πλήρης καρδιακός αποκλεισμός δεν σχετίζεται με ελαττώματα εξωκαρδιακά ή χρωμοσωμικές ανωμαλίες
Πρόγνωση
Η πρόγνωση του καρδιακού αποκλεισμού εξαρτάται από την παρουσία των συγγενών καρδιοπαθειών, την κοιλιακή συχνότητα και την εμφάνιση ύδρωπα. Εμβρυϊκός ύδρωπας συνδέεται με κακή πρόγνωση. Προγεννητική παρέμβαση, συμπεριλαμβανομένης της χορήγησης στεροειδών στη μητέρα για εκείνες με αυτοαντισώματα ή επέμβαση εμβρύου με καρδιακή βηματοδότηση, έχει αποδειχθεί ότι είναι χρήσιμες. Μεταγεννητική αξιολόγηση της καρδιακής λειτουργίας είναι απαραίτητη, αλλά μόνο μια μειοψηφία των ασθενών απαιτούν πρώιμη εμφύτευση ενός βηματοδότη.
Υπερκοιλιακή ταχυκαρδία

Υπάρχουν δύο κοινές μορφές υπερκοιλιακής ταχυκαρδίας:

  • Η πρώτη αναφέρεται στα άτομα με καρδιακή συχνότητα των 240-260 παλμούς ανά λεπτό και 1: 1 κολποκοιλιακή αγωγιμότητα (κολπική συχνότητα είναι ίση με την κοιλιακή).
  • Η δεύτερη αφορά στα άτομα με ένα καρδιακό ρυθμό 300-500 παλμούς ανά λεπτό και 2: 1 κολποκοιλιακή αγωγιμότητα, όπως διαπιστώθηκε σε κολπικό πτερυγισμό.

Επικράτηση
Οι ταχυκαρδίες βρέθηκαν σε περίπου 1 στα 10,000 έμβρυα.
Άλλες ανωμαλίες
Υπερκοιλιακή ταχυκαρδία δεν συνδέεται συνήθως με ελαττώματα εξωκαρδιακά, αλλά μπορεί να βρεθεί σε ανωμαλία Ebstein .
Πρόγνωση
Supraventriular ταχυκαρδία συνδέεται με υποβέλτιστη πλήρωση κοιλίας και μειωμένη καρδιακή παροχή, που οδηγεί σε συμφορητική ανεπάρκεια. Είτε διαλείπουσα ή παρατεταμένη ταχυκαρδία μεγαλύτερη από 200 παλμούς ανά λεπτό μπορεί να οδηγήσει σε εμβρυϊκό ύδρωπα και θάνατο αν δεν αντιμετωπιστεί. Η ενδομήτρια θεραπεία μπορεί να πραγματοποιηθεί μέσω αντιαρρυθμικών φαρμάκων στη μητέρα, ενώ μπορεί να απαιτούνται περισσότερα από ένα φάρμακα. Σε σπάνιες περιπτώσεις, όταν η ταχυκαρδία δεν μπορεί να ελεγχθεί και το έμβρυο είναι υδρωπικό, πρόωρος τοκετός μπορεί να χρειαστεί να εξεταστεί ως επιλογή (> 36 εβδομάδων). Η διαχείριση των υποθέσεων αυτών θα πρέπει να είναι σε συνεργασία με εμβρύο- παιδο- καρδιολόγο.

 

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