Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants

A Japanese girl with polycystic kidney disease (PKD) developed normally, but at 8 months of age, she was hospitalized for acute onset dyspnea. On the day after admission to hospital, her general condition suddenly became worse. An echocardiogram showed left ventricular dilatation with thin walls, se...

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Bibliographic Details
Published inInternational Heart Journal Vol. 61; no. 5; pp. 1079 - 1083
Main Authors Miura, Aya, Kondo, Hidehito, Yamamoto, Takuma, Okumura, Yasuko, Nishio, Hajime
Format Journal Article
LanguageEnglish
Published Tokyo International Heart Journal Association 29.09.2020
Japan Science and Technology Agency
Subjects
Autopsy
Cardiomyocytes
Cardiomyopathy
Clinical exome sequence
Compound heterozygous variants
Congestive heart failure
Dilated cardiomyopathy
Dyspnea
Echocardiography
Genetic diversity
Kidney diseases
Light microscopy
Lymphocytes
Mitral valve
Nonsense mutation
PKD-cardiomyopathy
Polycystic kidney
Polycystic kidney disease
Polycystic kidney disease 1 protein
Postmortem genetic analysis
Regurgitation
Respiration
Rheumatic heart disease
SIDS
Sudden infant death syndrome
Ventricle
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Summary:A Japanese girl with polycystic kidney disease (PKD) developed normally, but at 8 months of age, she was hospitalized for acute onset dyspnea. On the day after admission to hospital, her general condition suddenly became worse. An echocardiogram showed left ventricular dilatation with thin walls, severe mitral valve regurgitation, and a reduced ejection fraction. She died of acute cardiac failure 3 hours after the sudden change. Postmortem analysis with light microscopy showed disarray of cardiomyocytes without obvious infiltration of lymphocytes, and we diagnosed her heart failure as idiopathic dilated cardiomyopathy (DCM). Clinical exome sequencing showed compound heterozygous variants in JPH2 (p.T237A/p.I414L) and a heterozygous nonsense mutation in PKD1 (p.Q4193*). To date, several variants in the JPH2 gene have been reported to be pathogenic for adult-onset hypertrophic cardiomyopathy or DCM in an autosomal dominant manner and infantile-onset DCM in an autosomal recessive manner. Additionally, autosomal dominant polycystic kidney disease is a systemic disease associated with several extrarenal manifestations, such as cardiomyopathy. Here we report a sudden infant death case of DCM and discuss the genetic variants of DCM and PKD.
ISSN:1349-2365
1349-3299
DOI:10.1536/ihj.20-155