Diagnosis of laminopathy with predominant cardiac involvement during pretransplant assessment-a case report with a review of risk stratification and disease management of laminopathies
2022
Abstract
We present a case of laminopathy, which was diagnosed in a sixteen-year-old female patient referred for heart transplant enlistment. In addition to advanced heart failure due to dilated cardiomyopathy, we detected mild contractures of elbow flexors.
Molecular genetic analysis revealed a pathogenic variant of la-min A/C LMNA:c.241T>G, p.Tyr81Asp. These findings were compatible with Emery-Dreifuss myopathy with predominant cardiac involvement.
Furthermore, we discuss clinical presentation of laminopathy, prognostic stratification of carriers of pathogenic LMNA variants and clinical management of patients with laminopathy.