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Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
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Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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Updated: Jul 15, 2026

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Heart Transplant for Noncompaction Cardiomyopathy in NONO-Related Syndromic Intellectual Disability.

Julia S Singer1, Dorota Garczarczyk-Asim1, Miriam Michel2

  • 1Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

Molecular Genetics & Genomic Medicine
|July 14, 2026
PubMed
Summary

Loss-of-function variants in NONO cause X-linked neurodevelopmental disorder (MRXS34), characterized by developmental delay and heart defects like left ventricular noncompaction cardiomyopathy (LVNC). This study highlights the severe cardiac and gastrointestinal issues associated with NONO mutations.

Keywords:
NONOexon skippingheart transplantationleft ventricular noncompaction cardiomyopathyneurodevelopmental disordersplice‐site variantvolvulus

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Area of Science:

  • Genetics
  • Cardiology
  • Neurology

Background:

  • Loss-of-function variants in the NONO gene lead to X-linked syndromic neurodevelopmental disorder MRXS34.
  • This disorder is characterized by developmental delay, corpus callosum abnormalities, dysmorphic features, feeding difficulties, and congenital heart disease, most commonly left ventricular noncompaction cardiomyopathy (LVNC).
  • Limited long-term outcome data are available for patients with NONO-related disorders.

Purpose of the Study:

  • To characterize the phenotype and long-term outcomes of a patient with a novel NONO loss-of-function variant.
  • To further delineate the spectrum of clinical manifestations associated with NONO loss-of-function mutations.
  • To investigate the prevalence of gastrointestinal complications in NONO-related neurodevelopmental disorder.

Main Methods:

  • Exome sequencing and NONO transcript analysis were performed on a 14-year-old boy with LVNC and syndromic neurodevelopmental features.
  • In silico prediction, RT-PCR, and nonsense-mediated mRNA decay analysis were used to confirm the pathogenicity of the identified NONO variant.
  • A comprehensive literature search was conducted to identify and analyze previously reported cases of NONO loss-of-function mutations.

Main Results:

  • A novel hemizygous NONO variant (c.348G>A) predicted to cause exon skipping, frameshift, and premature termination was identified.
  • The patient exhibited the characteristic NONO-associated phenotype, including severe cardiac deterioration requiring heart transplantation at age 2, with stable graft function at age 14.
  • Literature review identified 32 live-born patients and 11 fetuses with NONO loss-of-function mutations, consistently showing intellectual disability, LVNC, distinct facial features, dystrophy, and lean habitus. Gastrointestinal issues, including volvulus, were noted.
  • The aberrant transcript was confirmed to be subject to nonsense-mediated mRNA decay.

Conclusions:

  • This report reinforces the core phenotype of NONO loss-of-function, including severe cardiac manifestations and neurodevelopmental challenges.
  • It describes the second reported case of heart transplantation in an individual with NONO-related disorder, highlighting the critical role of cardiac support.
  • The findings suggest an underrecognized prevalence of gastrointestinal complications in patients with NONO loss-of-function, warranting closer clinical attention.