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Updated: Jan 9, 2026
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function
Katelyn Dannheim1, Grant Eilers2, Nathan C Page3
1Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Summary
Autopsies of two Myhre syndrome patients revealed widespread organ fibrosis and previously undocumented neuropathologic findings. Postmortem examinations are crucial for understanding this rare multisystem disorder and guiding patient care.
Area of Science:
- Pathology
- Genetics
- Rare Diseases
Background:
- Myhre syndrome (OMIM 139201) is an ultra-rare multisystem disorder with limited pathological data due to scarce postmortem examinations.
- Morbidity is associated with severe congenital heart defects, aortic hypoplasia, airway stenosis, constrictive pericarditis, and restrictive cardiomyopathy.
Keywords:
TGF‐β signalingairway stenosisfibrosisinterstitial lung diseasepericarditispostmortem examinationrestrictive cardiomyopathyMore Related Videos
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