Cor Vasa 2022, 64(1):67-71 | DOI: 10.33678/cor.2021.066

(Diagnosis of laminopathy with predominant cardiac involvement during pretransplant assessment - a case report with a review of risk stratification and disease management of laminopathies)

Katarína Hromaníková^a, Miloš Kubánek^a, Alice Krebsová^a, Petra Peldová^b, Pavel Votýpka^b, Milan Macek^b, Markéta Hegarová^a, Vojtěch Melenovský^a, Josef Kautzner^a

^a Klinika kardiologie, Institut klinické a experimentální medicíny, Praha

^b Ústav biologie a lékařské genetiky, 2. lékařská fakulta Univerzity Karlovy a Fakultní nemocnice v Motole, Praha

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 lamin 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.

Keywords: Cardiomyopathy, Emery-Dreifuss myopathy, Laminopathy,

Received: May 23, 2021; Revised: May 23, 2021; Accepted: June 6, 2021; Published: February 22, 2022  Show citation