TY - JOUR
T1 - Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease
AU - Chedid, Maroun
AU - Hanna, Christian
AU - Zaatari, Ghaith
AU - Mkhaimer, Yaman
AU - Reddy, Prajwal
AU - Rangel, Laureano
AU - Zubidat, Dalia
AU - Kaidbay, Daniel Hasan Nabil
AU - Irazabal, Maria V.
AU - Connolly, Heidi M.
AU - Senum, Sarah R.
AU - Madsen, Charles D.
AU - Hogan, Marie C.
AU - Zoghby, Ziad
AU - Harris, Peter C.
AU - Torres, Vicente E.
AU - Johnson, Jonathan N.
AU - Chebib, Fouad T.
N1 - Publisher Copyright:
© 2022 S. Karger AG. All rights reserved.
PY - 2022/5/1
Y1 - 2022/5/1
N2 - Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is caused mainly by pathogenic variants in PKD1 or PKD2 encoding the polycystin-1 and -2 proteins. Polycystins have shown to have an essential role in cardiac development and function in animal models. In the current study, we describe the clinical association between ADPKD and congenital heart disease (CHD). Methods: Medical records from Mayo Clinic were queried for all patients with confirmed ADPKD and CHD between 1993 and 2020. CHD was categorized into left-to-right shunt, obstructive, and complex lesions. Patent foramen ovale, mitral valve prolapse, and bicuspid aortic valve anomalies were excluded. Results: Twenty-five out of 1,359 (1.84%) ADPKD patients were identified to have CHD. Of these, 84% were Caucasians and 44% were males. The median (Q1-Q3) age (years) at CHD diagnosis was 12.0 (2.0-43.5). Fourteen patients (56%) had left-to-right shunt lesions, 6 (24%) had obstructive lesions and 5 (20%) complex lesions. Seventeen patients (68%) had their defects surgically corrected at a median age (Q1-Q3) of 5.5 (2.0-24.7). Among 13 patients with available genetic testing, 12 (92.3%) had PKD1 pathogenic variants, and none had PKD2. The median (Q1-Q3) age at last follow-up visit was 47.0 (32.0-62.0) and median (Q1-Q3) eGFR was 35.8 (11.4-79.0) mL/min/1.73 m2. Three patients (12%) died; all of them had left-to-right shunt lesions. Discussion/Conclusion: We observed a higher CHD frequency in ADPKD than the general population (1.84 vs. 0.4%). While only PKD1 pathogenic variants were identified in this cohort, further studies are needed to confirm this novel finding and understand the role of polycystins in the development of the heart and vessels.
AB - Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is caused mainly by pathogenic variants in PKD1 or PKD2 encoding the polycystin-1 and -2 proteins. Polycystins have shown to have an essential role in cardiac development and function in animal models. In the current study, we describe the clinical association between ADPKD and congenital heart disease (CHD). Methods: Medical records from Mayo Clinic were queried for all patients with confirmed ADPKD and CHD between 1993 and 2020. CHD was categorized into left-to-right shunt, obstructive, and complex lesions. Patent foramen ovale, mitral valve prolapse, and bicuspid aortic valve anomalies were excluded. Results: Twenty-five out of 1,359 (1.84%) ADPKD patients were identified to have CHD. Of these, 84% were Caucasians and 44% were males. The median (Q1-Q3) age (years) at CHD diagnosis was 12.0 (2.0-43.5). Fourteen patients (56%) had left-to-right shunt lesions, 6 (24%) had obstructive lesions and 5 (20%) complex lesions. Seventeen patients (68%) had their defects surgically corrected at a median age (Q1-Q3) of 5.5 (2.0-24.7). Among 13 patients with available genetic testing, 12 (92.3%) had PKD1 pathogenic variants, and none had PKD2. The median (Q1-Q3) age at last follow-up visit was 47.0 (32.0-62.0) and median (Q1-Q3) eGFR was 35.8 (11.4-79.0) mL/min/1.73 m2. Three patients (12%) died; all of them had left-to-right shunt lesions. Discussion/Conclusion: We observed a higher CHD frequency in ADPKD than the general population (1.84 vs. 0.4%). While only PKD1 pathogenic variants were identified in this cohort, further studies are needed to confirm this novel finding and understand the role of polycystins in the development of the heart and vessels.
KW - Autosomal dominant polycystic kidney disease
KW - Complex heart lesions
KW - Congenital heart disease
KW - Left-to-right shunt lesions
KW - Obstructive lesions
KW - Polycystic kidney disease
UR - http://www.scopus.com/inward/record.url?scp=85127867297&partnerID=8YFLogxK
U2 - 10.1159/000522377
DO - 10.1159/000522377
M3 - Article
C2 - 35313307
AN - SCOPUS:85127867297
SN - 0250-8095
VL - 53
SP - 316
EP - 324
JO - American Journal of Nephrology
JF - American Journal of Nephrology
IS - 4
ER -