Old-Age Onset Progressive Cardiac Contractile Dysfunction in a Patient with Polycystic Kidney Disease Harboring a PKD1 Frameshift Mutation

Yoshinobu Suwa; Shuichiro Higo; Kei Nakamoto; Fusako Sera; Suzuka Kunimatsu; Yuki Masumura; Machiko Kanzaki; Isamu Mizote; Hiroya Mizuno; Yasushi Fujio; Shungo Hikoso; Yasushi Sakata

doi:10.1536/ihj.18-184

Case Reports

Old-Age Onset Progressive Cardiac Contractile Dysfunction in a Patient with Polycystic Kidney Disease Harboring a PKD1 Frameshift Mutation

Yoshinobu Suwa, Shuichiro Higo, Kei Nakamoto, Fusako Sera, Suzuka Kunimatsu, Yuki Masumura, Machiko Kanzaki, Isamu Mizote, Hiroya Mizuno, Yasushi Fujio, Shungo Hikoso, Yasushi Sakata

Author information

Yoshinobu Suwa
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
Shuichiro Higo
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
Department of Medical Therapeutics for Heart Failure, Osaka University Graduate School of Medicine
Kei Nakamoto
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
Fusako Sera
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
Suzuka Kunimatsu
Department of Medical Therapeutics for Heart Failure, Osaka University Graduate School of Medicine
Yuki Masumura
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
Machiko Kanzaki
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
Isamu Mizote
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
Hiroya Mizuno
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
Yasushi Fujio
Laboratory of Clinical Science and Biomedicine, Osaka University Graduate School of Pharmaceutical Sciences
Shungo Hikoso
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
Yasushi Sakata
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine

Keywords: Cardiomyopathy, Genetic analysis

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Supplementary material

2019 Volume 60 Issue 1 Pages 220-225

DOI https://doi.org/10.1536/ihj.18-184

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Abstract

A 70-year-old man with dyspnea was admitted to our department and received standard therapy for recurrent heart failure. He was diagnosed with polycystic kidney disease (PKD) in his thirties and received hemodialysis for 4 years before undergoing renal transplantation at age 45. Although his left ventricular ejection fraction (LVEF) was preserved in his 50s, LVEF decreased progressively from 61% to 24%, while left ventricular diastolic dimension (LVDd) increased from 54 mm to 65 mm between 63 and 69 years of age. Right ventricular endomyocardial biopsy demonstrated myocardial disarray and interstitial fibrosis. Genetic analysis identified a heterozygous frameshift mutation in PKD1, which encodes polycystin-1, a major causative gene of PKD. We detected PKD1 protein expression in myocardial tissue by immunostaining. Recent epidemiological studies and animal models have clarified the pathological correlation between ventricular contractile dysfunction and PKD1 function. Here, we present a case of old-age onset progressive cardiac contractile dysfunction with a PKD1 gene mutation.

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