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Carried by: CARDIOGEN
References:
Clinician(s): Julie CHABANEIX, Jean-Benoit THAMBO
Biologist(s): Caroline ROORYCK-THAMBO

Presentation

There are two types of complex congenital heart defects:

  • Syndromic forms (often sporadic)
  • Non-syndromic familial forms

There is considerable genetic heterogeneity in complex congenital heart defects, which can also be part of numerous syndromic entities. Targeted panels for non-syndromic familial M3Cs have a quite low yield. Very high-throughput sequencing (VHT) will increase diagnostic yield (15%-40%) for pre-indication, for which there is growing demand for genetic counselling.

Criteria before considering a discussion in MDM-FMG

Syndromic CCHD: presence of a complex cardiac malformation (listed below) associated with at least one other organ malformation, or notable facial dysmorphia, or intellectual disability, clinically not suggestive of a known genetic syndrome, with a request for genetic counselling. A CMA (chromosomal microarray analysis) will be requested beforehand.

Familial CCHD: Presence of congenital heart disease in at least two related individuals in a family. DNA from both affected individuals and one healthy individual (trio) must be available.

LIST of COMPLEX CCHD

  • Heterotaxia, isomerism and situs inversus
    • Left and right isomerism
    • Polysplenia/Asplenia
  • Abnormal connections of the pulmonary veins
    • Total right-to-left shunt
    • Partial PAOP of the entire right lung
    • Cimeterre syndrome
    • Pulmonary vein stenosis
    • Congenital pulmonary vein atresia
  • AV junction and AV valve abnormalities
    • Congenital tricuspid valve abnormalities:
    • Ebstein’s anomaly/VT agenesis
    • Atrioventricular canal defect (AVCD)
  • AV connection abnormalities
    • Double discordance
    • Superimposed ventricles/Criss Cross
  • Univentricular hearts (UV)
    • Ejection pathway heart defects
    • Transposition of the great vessels (TGV)
    • Double outlet right ventricle (DORV)
    • Double outlet left ventricle (DOLV)
    • Anatomically corrected malposition of the great vessels
    • Tetralogy of Fallot and variants
    • Truncus arteriosus (TA)
    • Staged left heart obstructions (Shone syndrome)
  • Extracardiac trunk anomalies
    • Coarctation syndrome: CoA + VSD
    • Interruption of the aortic arch
  • Congenital anomalies of the coronary arteries
    • ALCAPA
    • ARCAPA
  • Pulmonary arterial hypertension associated with congenital heart disease

Genome Sequencing in diagnostic strategy

MDM cartography

MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact

MDM Complex congenital heart defects

National
Bordeaux