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Implantation of Total Artificial Heart in Congenital Heart Disease

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Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Emily C Oates^1,2,3,4, Kristi J Jones^2,3, Sandra Donkervoort⁵

¹Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Annals of Neurology

|April 26, 2018

Summary

Congenital titinopathy, a rare genetic disorder, presents with early hypotonia and contractures. This study details clinical features, aiding diagnosis and management of this emerging condition.

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Area of Science:

Genetics
Neuromuscular Disorders
Molecular Biology

Background:

Congenital titinopathy is an emerging neuromuscular disorder with significant diagnostic challenges.
Understanding the clinical spectrum and underlying genetic basis is crucial for patient management.

Purpose of the Study:

To provide a comprehensive clinical characterization of congenital titinopathy.
To facilitate the diagnosis and management of this disorder.
To gain insights into the pathogenesis of congenital titinopathy.

Main Methods:

Massively parallel sequencing identified pathogenic TTN mutations in 30 patients from 27 families.
Detailed analysis of clinical, histopathological, and imaging features was performed.
Western blot analysis assessed titin protein size.

Main Results:

Patients presented with early hypotonia/contractures, scoliosis, and respiratory insufficiency; limb weakness was slowly progressive.
Cardiac involvement occurred in 46% of patients, with dilated cardiomyopathy in relatives.
Histopathology revealed fiber size variation, internalized nuclei, and cores; MRI showed specific muscle involvement.

Conclusions:

This study establishes a detailed clinical reference dataset for congenital titinopathy.
Findings provide insights into disease pathogenesis, suggesting involvement of developmental titin isoforms.
The data will greatly facilitate diagnostic confirmation and management of affected individuals.