Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease.
Autosomal dominant polycystic kidney disease
Complex heart lesions
Congenital heart disease
Left-to-right shunt lesions
Obstructive lesions
Polycystic kidney disease
Journal
American journal of nephrology
ISSN: 1421-9670
Titre abrégé: Am J Nephrol
Pays: Switzerland
ID NLM: 8109361
Informations de publication
Date de publication:
2022
2022
Historique:
received:
22
12
2021
accepted:
30
01
2022
pubmed:
22
3
2022
medline:
14
5
2022
entrez:
21
3
2022
Statut:
ppublish
Résumé
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). 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. 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. 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.
Identifiants
pubmed: 35313307
pii: 000522377
doi: 10.1159/000522377
pmc: PMC9832580
mid: NIHMS1852398
doi:
Substances chimiques
TRPP Cation Channels
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
316-324Subventions
Organisme : NIDDK NIH HHS
ID : P30 DK090728
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK058816
Pays : United States
Informations de copyright
© 2022 S. Karger AG, Basel.
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