Abstract: FR-PO302

Congenital Heart Disease (CHD) in Adult Patients with Autosomal Dominant Polycystic Kidney (ADPKD)

Session Information

Category: Genetic Diseases of the Kidney

  • 801 Cystic Kidney Diseases

Authors

  • Chebib, Fouad T., Mayo Clinic, Rochester, Minnesota, United States
  • Harris, Peter C., Mayo Clinic, Rochester, Minnesota, United States
  • Torres, Vicente E., Mayo Clinic, Rochester, Minnesota, United States
  • Irazabal, Maria V., Mayo Clinic, Rochester, Minnesota, United States
  • Connolly, Heidi M., Mayo Clinic, Rochester, Minnesota, United States
  • Cornec-Le Gall, Emilie, Mayo Clinic, Rochester, Minnesota, United States
  • Hogan, Marie C., Mayo Clinic, Rochester, Minnesota, United States
  • Senum, Sarah R., Mayo Clinic, Rochester, Minnesota, United States
  • Heyer, Christina M., Mayo Clinic, Rochester, Minnesota, United States
  • Madsen, Charles D, Mayo Clinic, Rochester, Minnesota, United States
  • El-Zoghby, Ziad, Mayo Clinic, Rochester, Minnesota, United States
Background

Primary cilia and the polycystins have an important role in cardiac development. Pkd1-/- and Pkd2-/- mice have structural defects in cardiac septation including atrial and venticular septal defects (ASD,VSD). It is uncertain whether an association between ADPKD and CHD exists.

Methods

Clinical data was retrieved from medical records for patients with ADPKD and CHD evaluated at Mayo Clinic (1984-2015). Patent foramen ovale and isolated bicuspid aortic valve (BAV) were excluded from the prevalence analysis.

Results

Thirty of 667 patients with available echocardiograms had evidence of CHD:8 (1.2%) had a left-to-right shunt (4 ASD, 3 VSD, and 1 isolated PDA); 6 (0.9%) outflow obstruction (4 aortic coarctation,1 aortic hypoplasia, and 1 pulmonic stenosis); 5 (0.75%) with cyanotic CHD (2 tetralogy of Fallot,1 Ebstein’s anomaly,1 tricuspid atresia and 1 transposition of great arteries associated with double inlet left ventricle, pulmonic stenosis and ASD); and 14 (2.1%) BAV. Two additional patients had left coronary artery to pulmonary artery fistula and isolated persistent left superior vena cava. Genetic studies have revealed 18 patients with PKD1 mutations (11 truncating and 4 non-truncating); none with PKD2 mutations and no mutation was detected in 3 patients (Table 1).

Conclusion

Coexistence of ADPKD and CHD in our tertiary referral center cohort appears to be higher than expected by chance. The observed prevalence of CHD (excluding isoladed BAV) in ADPKD patients seems higher than the general population (3.1 vs. 0.8%). We suggest that ADPKD mutations predispose to congenital heart malformations.

 Left-to-right shunts
(n=8)
Outflow obstruction
(n=6)
Cyanotic
(n=5)
BAV
(n=14)*
Male,%37.5506078.5
Caucasian, %87.5100100100
Average age at diagnosis of CHD28.6 ± 29.111.8 ± 12.33.4 ±5.239.3 ± 23.1
Surgery2559
Average age at first surgery8.5 ± 9.214.2 ± 13.810.2 ± 15.638.4 ± 28.3
Age at ESRD, years52.2 ± 7.1 (n=4)43.5 ± 6.3 (n=2)48 (n=1)50.5 ± 6.6 (n=7)
Median TKV (IQR), ml2599 (727 - 3609) N=71598 (544 – 4312) N=31546 (391 - 2745) N=41985 (810 – 3841) N=8
With PKD genetic testing (n)5537
PKD1 truncating mutations (n,%)3, 60%4, 80%2, 66.7%4, 57.1%
PKD1 non-truncating mutations (n,%)2, 40%002, 28.6%
PKD2 mutations (n,%)0000
No mutation detected (n,%)01, 20%1, 33.3%1, 14.3%
*Three patients with BAV had another CHD condition; Abbreviations: ESRD : End Stage Renal Disease, TKV: Total Kidney Volume, BAV: Bicuspid Aortic valve; CHD: Congenital heart disease

Funding

  • NIDDK Support