Classification des cardiopathies congénitales

Transcription

1 Classification des cardiopathies congénitales Damien Bonnet Unité médico-chirurgicale de Cardiologie Congénitale et Pédiatrique Hôpital Universitaire Necker Enfants malades APHP, Université Paris Descartes, Sorbonne Paris Cité IcarP Cardiology, Institut Hospitalo-Universitaire IMAGINE Centre de Référence Maladies Rares Malformations Cardiaques Congénitales Complexes-M3C Centre de Référence Maladies Rares Maladies Cardiaques Héréditaires- CARDIOGEN

2 Classification embryologique ou mécanistique des cardiopathies congénitales

3 1 CHD 1 CHD 1 group of CHDs 1 CHD 1 CHD Mechanism 1 Many Genes 1 Gene 1 Mechanism Many Genes Mechanism 2 Mechanism 3 Group of Genes 1 1 Gene Group of Genes 2 Group of Genes 3

4 Phylogeny Darwin Based on the notion of common ancestor Phylogenetic groups - phylum

5 Mechanistic classification Neural crest cell migration defects Conotruncal malformations Flow defects 1 group of CHDs Hypoplastic left heart Targeted developmental defects TAPVR Extracellular matrix defects 1 Mechanism Ventricular Septal Defects Endocardial cushions defects Atrioventricular septal defects Looping anomalies-laterality defects Heterotaxia 1 Gene

6 Rôle des cellules de la crête neurale Migration dans la voie efférente Expériences d abla1on de CCN chez le poulet totale : absence de septa1on de la voie d éjec1on (tronc artériel commun) par(elle : malalignement au niveau du conus (VDDI, tétralogie de Fallot, APSO, dextroposi1on aor1que) anomalies des arcs aor1ques toujours associées Hutson & Kirby 2007

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8 Cardiopathies conotroncales Coeur normal T4F 6 % APSO 4 % AVP 1 % IAA 1 % TAC 2 % MV 1 % CIV 30 %

9 Hypothesis confirmed in the 22q11 deletion Randomised phenotype % Tetralogy of Fallot 22.2 PA-VSD 10.8 Interrupted aortic arch 26 Truncus arteriosus 11.4 Infundibular VSD 15.5 Aortic arch anomalies 13.9 Boudjemline et al. J Pediatr.

10 Classical approach Carl von Linné Based on morphological characteristics (based on the fact that organisms resemble one another)

11 Papuina pulcherrima, with a dextral shell

12 Predator snakes with teeth and mandible that are adapted to dextral snails, resulting in positive selection for sinistrality

13 For RxR or LxL no problem

14 A tragedy

15 Five chirality-related genes in snails Nodal, Bone Morphogenetic Protein 4, Fibroblast Growth Factor 8, Inversin, Left-Right Dynein have their homologous counterparts in vertebrates.. left-right asymmetry Cristina Grande & Nipam H. Patel, 2008 Nature Online, December Nodal signaling is involved in left right asymmetry in snails [ Here we report the first evidence for a Nodal orthologue.. ]

16 Nodal expression is on the left side

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18 5 levels of asymmetry in the developing heart

19 Cardiosensor mouse : 96-16

20 96-16 expression in Pitx2δc heart with TGA - Transposition of the great arteries with a rotation defect - Normal septation and normal neural crest cell migration - Defect of left-right signalling

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22 TGA is a laterality defect It is not a conotruncal defect It is a laterality (rotation) restricted to a single segment of the developing heart

23 5 levels of asymmetry in the developing heart

24 Families TGA & CC-TGA Families CCTGA + TGA

25 Phenotypic continuum Recurrences inside the phenotypic continuum

26 1 CHD 1 CHD 1 group of CHDs 1 CHD Many Genes 1 Gene 1 Mechanism Many Genes 1 Gene

27 Genetic heterogeneity 1 CHD One CHD- many genes Many Genes Tetralogy of Fallot : TBX1, Fog2, Gata4, NkX2.5, CDH7, PAX3, JAGGED1 AVSD : Trisomie 21, Ellis van Creveld, Noonan, del8p23, TGA : ZIC3, PROSIT, Cryptic

28 1 CHD 1 CHD 1 group of CHDs 1 CHD 1 CHD Mechanism 1 Many Genes 1 Gene 1 Mechanism Many Genes Mechanism 2 Mechanism 3 Group of Genes 1 1 Gene Group of Genes 2 Group of Genes 3

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30 Coarctation of the aorta 1 CHD various mechanisms Disease of the aortic isthmus 1 CHD Flow defect : spectrum of HLHS Conotruncal defect Interrupted aortic arch Conoventricular VSD Laterality defect with persisting LSCV Mechanism 1 Mechanism 2 Mechanism 3 Group of Genes 1 Group of Genes 2 Group of Genes 3

31 Les arrêts du développement embryonnaire, les coeurs qui n existent jamais, et les algorithmes.

32 Courbure interne Bande pariétale (ventriculo-infundibular fold) SB Primary fold (anneau primitif) Entonnoir tricuspidien + Bande modératrice Bande septale

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35 DEXTROISOMERISME

36 Classifications anatomiques des cardiopathies congénitales

37 Purpose of nomenclature Convey information diagnosis to clinician, surgeon Collect data incidence, outcomes Further understanding development, causes

38 Characteristics of the different classifications Descriptive the name conveys a picture Unambiguous 1:1 correspondence between name and entity Inclusive no large other category Consistent but capable of evolution

39 Diagnostic Approach of congenital heart diseases Cardiac position Segmental situs Segmental alignments/connections Associated defects Physiology

40 Cardiac Position Levocardia heart in left chest, apex to left Mesocardia midline heart, apex inferior Dextrocardia heart in right chest, apex to right Ectopia Cordis heart partially or completely out of chest

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43 Complete ectopia cordis

44 Ectopia cordis and univentricular heart

45 Dextroposition

46 Why segmental analysis? Facilitates understanding of complex defects - Divide heart into manageable segments - Analyze each segment - Formulate comprehensive diagnosis

47 Cardiac Segments Atria AV Canal Ventricles Conus Great Arteries

48 Segmental Set { X,X,X } Atrial Situs Great Ventricular Arteries Loop

49 Veno-atrial Segment Situs Solitus (S) Situs Inversus (I) Situs Ambiguus (A)

50 Atrial Morphology Right atrium - receives coronary sinus - pectinate muscles extend to vestibule of AV valve - receives IVC - septum secundum on septal surface - broad, triangular appendage

51 Right atrium ao ivc spine

52 Right atrium

53 Right atrium

54 Right atrial appendage

55 Right atrial appendage

56 Right atrial appendage RAA SCV

57 Atrial Morphology Left atrium - pectinate muscles confined to appendage - septum primum on septal surface - small, finger-like appendage

58 Left atrium

59 Left atrium

60 Left atrial appendage

61 Inversion Left-right reversal with no antero-posterior or supero-inferior change

62 Situs ambiguus

63 Segmental situs { X, X, X } Atrial Situs (S,I,A) Great Arteries (S,I Ventricular D,L,A) Loop (D,L)

64 Ventricles Solitus or D-loop Inversus or L-loop

65 Ventricular Morphology Right ventricle - trapezoidal shape - coarsely trabeculated - 2 parts body and outflow - tricuspid valve attached to septum

66 Right ventricle

67 Right ventricle

68 Right ventricle

69 Ventricular Morphology Left ventricle - ellipsoidal shape - finely trabeculated - Adjacent inflow and outflow - 2 discrete free-wall papillary muscles - Mitral valve with no septal attachments

70 Left ventricle

71 Left ventricle

72 Left ventricle

73 Ventricular situs or loop

74 Segmental situs { X, X, X } Atrial Situs (S,I,A) Great Arteries (S,I Ventricular D,L,A) Loop (D,L)

75 Great Artery Morphology Aorta - forms arch - origin of at least some arch vessel Pulmonary artery - short trunk - bifurcates into right and left branches There are significant exceptions

76 Great Arteries Normally Related Great Arteries Solitus (S) Inversus (I)

77 Great Arteries

78 Malposed Great Arteries D- Malposition L- Malposition

79 Great Arteries

80 Corrected TGA {S,L,L}

81 Great Arteries Usage - S, I - normally related great arteries - D, L, A - malposed great arteries

82 Segmental situs { X, X, X } Atrial Situs (S,I,A) Great Arteries (S,I Ventricular D,L,A) Loop (D,L)

83 Pericardium

84 Common Segmental Sets Normally related great arteries {S,D,S} Situs Inversus Totalis {I,L,I} Transposition of the great arteries {S,D,D} Corrected Transposition-Transposition-Double discordance {S,L,L} Heterotaxy syndrome with asplenia {A,D,D}

85 A-V Alignments Concordant Discordant RV LV LV RV RA LA RA LA

86 A-V Alignments Two separate AV valves separate ventricles straddling double inlet Common AV valve two ventricles common inlet AV valve atresia one ventricle straddling

87 A-V Alignments 2 Valves Separate Straddling Double inlet RV LV LV V RA LA RA LA RA LA

88 A-V Alignments Common Valve 2 ventricles Common inlet RV LV V RA LA RA LA

89 A-V Alignments AV Valve Atresia 1 Ventricle Straddling LV LV RA LA RA LA

90 AV Connections Same as alignments Uniquely determined by AV canal

91 A-V Situs Alignment Discordance {S,D,S} Geva et al Am Heart J 1993;125:459-64

92 V-A Alignments RV LV RV LV RA LA RA LA Concordant Discordant

93 The EPICARD study EPIdémiologie des enfants ou fœtus ayant une CARDiopathie congénitale Anatomic and Clinical Classification of Congenital Heart Diseases ACC-CHD ACC-CHD categories Heterotaxy Examples Heterotaxy syndromes Anomalies of venous connections Total anomalous pulmonary venous return Anomalies of atria Anomalies of AV junction and AV valves Complex anomalies of AV junction Functionally univentricular heart Ventricular septal defects Anomalies of ventriculo-arterial connections Atrial septal defect Atrioventricular septal defect Double discordance Hypoplastic left heart syndrome Perimembranous VSD Transposition of the great arteries, DORV Syst V RA RV Pulm V LA LV Anomalies of extra pericardial trunks Coarctation of the aorta Congenital anomalies of coronary arteries ALCAPA Pulm Art Aorta Houyel L, Bonnet D. Orphanet J 2011