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
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