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Intraventricular Septation in the Context of Dilated Cardiomyopathy Associated With TTN Mutation

Karl R Khandalavala1, Jean A Ballweg2,3, Stanley J Radio4

  • 1College of Medicine, University of Nebraska Medical Center, Omaha, Nebraska, USA.

JACC. Case Reports
|November 12, 2021
PubMed

Insights

A rare congenital heart defect in an infant boy was linked to a mutation in the TTN gene, causing dilated cardiomyopathy and abnormal left ventricular septation. This case highlights a novel structural heart anomaly stemming from congenital mitral valve issues.

Area of Science:

  • Pediatric Cardiology
  • Congenital Heart Disease
  • Genetic Cardiology

Background:

  • Infantile heart failure can stem from various causes, including genetic predispositions.
  • Dilated cardiomyopathy in infants requires thorough etiological investigation.
  • Congenital structural heart anomalies can present with complex pathophysiology.

Purpose of the Study:

  • To describe a unique case of symptomatic heart failure in an infant.
  • To identify the genetic and structural underpinnings of the observed cardiac condition.
  • To report a novel congenital anomaly of the left ventricle and mitral valve apparatus.

Main Methods:

  • Clinical presentation and echocardiographic assessment of a 6-month-old male infant.
  • Genetic analysis to identify mutations associated with cardiomyopathy.
  • Detailed anatomical evaluation of the structural heart disease.

Main Results:

  • The infant presented with symptomatic heart failure.
  • Dilated cardiomyopathy was diagnosed, associated with a mutation in the TTN gene.
  • A novel structural heart disease was identified: left ventricular septation with a fenestrated membrane due to aberrant congenital mitral valve apparatus formation.

Conclusions:

  • TTN gene mutations can manifest as dilated cardiomyopathy and complex structural heart disease in infancy.
  • Aberrant congenital mitral valve apparatus formation can lead to unique septal defects in the left ventricle.
  • This case underscores the importance of integrating genetic and detailed anatomical assessments in pediatric heart failure.

Keywords:
BP, blood pressureEFE, endocardial fibroelastosisLV, left ventricleTTN, titin genecongenital heart diseasedilated cardiomyopathyendocardial fibroelastosisintraventricular septationtitin gene

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