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April 3, 2026Cardiology in the Young0 citationsOpen Access

A novel homozygous PPP1R13L frameshift variant in a child with syndromic dilated cardiomyopathy and fatal arrhythmia

HKHakan KurtZUZulal UlgerELErtürk Levent

Key Result

A novel homozygous frameshift variant in the PPP1R13L gene was identified as the cause of early-onset syndromic dilated cardiomyopathy and fatal arrhythmia in a 4-year-old boy.

Key Points

  • To explore the implications of a homozygous PPP1R13L variant in a child with syndromic dilated cardiomyopathy and arrhythmia.
  • Identified a frameshift variant in the PPP1R13L gene
  • Assessed clinical features of dilated cardiomyopathy
  • Performed genetic analysis for variant validation
  • Detected a novel homozygous PPP1R13L variant
  • Child presented with early-onset dilated cardiomyopathy
  • Management strategies highlight the importance of early diagnosis and arrhythmia surveillance

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

P
Population
A 4-year-old boy presenting with decompensated heart failure, echocardiographic findings consistent with dilated cardiomyopathy, and syndromic features including sparse, dry hair, high anterior hairline, broad nasal bridge, and pointed teeth.
I
Intervention
Genetic analysis and medical management including inotropic infusions, diuretics, ACE inhibitors, antiplatelet therapy, intravenous antibiotics, intravenous immunoglobulin, and corticosteroids.
O
Outcome
Clinical course, genetic diagnosis, and phenotypic characterization.

A novel homozygous PPP1R13L frameshift variant is associated with a severe syndromic form of early-onset dilated cardiomyopathy and fatal arrhythmia, highlighting the importance of genetic testing in pediatric cardiomyopathy with ectodermal features.

Limitations

  • Segregation analysis in family members could not be performed.

Abstract

PPP1R13L-related cardiomyopathy should be considered in children with early-onset dilated cardiomyopathy and syndromic features. Early diagnosis is critical for clinical management, arrhythmia surveillance, and appropriate family counselling.

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Cite This Study

Kurt et al. (2026) conducted a case report in Syndromic dilated cardiomyopathy (n=1). PPP1R13L frameshift variant (c.2368_2375dup) was evaluated. A novel homozygous frameshift variant in the PPP1R13L gene was identified as the cause of early-onset syndromic dilated cardiomyopathy and fatal arrhythmia in a 4-year-old boy.

synapsesocial.com/papers/69cf5dd55a333a821460bc86https://doi.org/10.1017/s1047951126111883
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