An infant case of autosomal recessive polycystic kidney disease-associated dilated cardiomyopathy-like hypertensive cardiomyopathy diagnosed because of urinary tract infection

Cardiol Young. 2024 Aug;34(8):1835-1837. doi: 10.1017/S1047951124025496. Epub 2024 Sep 13.

Abstract

We report a case of dilated cardiomyopathy-like hypertensive cardiomyopathy (HTN-CM) with polycystic kidney disease without family history when a 3-month-old boy developed bacteraemia secondary to a urinary tract infection. He was later confirmed as having autosomal recessive inheritance due to the proven PKHD1 gene mutation. The treatment consisted mainly of antihypertensive and anti-heart failure therapies and he was discharged on the 131st day. To prevent the development of heart failure in patients with HTN-CM due to autosomal recessive polycystic kidney disease (ARPKD), it is important to improve the fetal diagnosis rate of ARPKD, detect hypertension early, and strictly control the blood pressure after birth.

Keywords: Autosomal recessive polycystic kidney disease; dilated cardiomyopathy; heart failure; hypertensive cardiomyopathy; infant.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Dilated* / complications
  • Cardiomyopathy, Dilated* / diagnosis
  • Cardiomyopathy, Dilated* / etiology
  • Humans
  • Hypertension / complications
  • Hypertension / etiology
  • Infant
  • Male
  • Mutation
  • Polycystic Kidney, Autosomal Recessive* / complications
  • Polycystic Kidney, Autosomal Recessive* / diagnosis
  • Receptors, Cell Surface / genetics
  • Urinary Tract Infections* / complications
  • Urinary Tract Infections* / diagnosis

Substances

  • Receptors, Cell Surface
  • PKHD1 protein, human