An unusual case of advanced heart failure. Family matters F. Macaya Ten, J. Pons, L. Asmarats, A. Grau, P. Pericas, A. Bethencourt Hospital Son Espases, Palma de Mallorca (ES)
An unusual case of advanced heart failure. Family matters
F. Macaya Ten, J. Pons, L. Asmarats, A. Grau, P. Pericas, A. Bethencourt
Hospital Son Espases, Palma de Mallorca (ES)
• 45 year-old female admitted with CHF• PMHx:
– Pacemaker at age 23 for congenital AV block– Persistent atrial flutter
• FHx: multiple relatives in paternal side had dysrhythmias and sudden death before age 65
• Good response to conventional treatment
DiagnosisRestrictive cardiomyopathy & AV block secondary to desmin mutation I367F
M R O H G AD E G DES I367F S D III-IV
Evolution
• ICD was implanted• Progressive worsening NYHA functional class• Neuromyologist ruled out myopathy• Included in cardiac transplant waiting list
Learning Points - Desminopathies
• AD • Very rare 5:10,000• Third-fourth decade of life • Male worse prognosis• Skeletal and/or Heart (2/3)
– AV block– Restrictive cardiomyopathy
• Definitive diagnosis: EMB (e- microscop)• Tx: ICD and heart transplantation
• AV block and/or diastolic HF in young patients should raise suspicion and warrant further evaluation
• Family history is essential in young patients with CHF• Autologous transplant is an important treatment option
for isolated cardiac phenotypes of desminopathies
Learning Points