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142 Genomics in Adult Patients with Congenital Heart Disease (CHD): The Norpap Database
  1. Isma Rafiq1,
  2. Leisa Freeman1,
  3. Clive Lewis2
  1. 1Norfolk and Norwich University Hospital
  2. 2Papworth NHS Trust


Background Adults with CHD now outnumber the paediatric population due to greater than 90% survival to the age of 18. About 400 syndromic types account for 25% of the CHD population; some of these are associated with high inheritance rates about which the adult CHD need counselling. The NORPAP database is derived from a dedicated adult CHD service started in 1993.

Methods We reviewed the NORPAP database (n = 2322) of which 264 patients (144M, 120F) with syndromic appearance had been genotyped. Mean age 35 years (16–89). 224 genotype positive and 40 genotype negative were identified. Spectrums of syndromes are described below in the Figure 1.

Abstract 142 Figure 1

Spectrum of clinical syndromes

The highest incidence of CHD with genotype was AV canal defects, but also VSD, conotruncal abnormalities and aortopathies (Marfan, L-D, E. D. IV).

Abstract 142 Table 1

Distribution of congenital defects with positive genotype in NORPAP database

Phenotypes and cardiac defects were studied as most patients had more than one associated lesions. Table 2 describes the association.

Abstract 142 Table 2

Phenotype – cardiac and associated features NORPAP database

Importantly 144 (55%) patients had cardiac surgery of which 32 (27%) required a second intervention required surgical intervention (higher incidence in Trisomy 21). Incidence of arrhythmias was low n = 19 (7%); 11 (4%) had device therapy. 47 (18%) patients had PAH-CHD of whom 11 were on targeted therapy. Endocarditis occurred in 4 patients only, surprising given the number with 22q11deletion. The incidence of IHD to date is low (3).

Conclusion Clinical syndromes with CHD are seen frequently seen in adult CHD clinics. Only 10% of the NORPAP database has been genotyped despite increasingly close involvement with clinical geneticists. Due limited availability of genetic testing in previous eras, many adult CHD survivors should have phenotype-genotype assessment not only to enhance parenthood counselling and cascade screening, but, increasingly, risk stratification of recognised comorbidities.

  • Genomics
  • Clinical Syndromes
  • Congenital heart disease

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