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)

Disclosures

No potential conflicts of interest to be disclosed

F. Macaya Ten et al

• 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

2D TTEMorphology and function

Cardiac Magnetic resonance

DIASTOLOGY

LV

RV

RA

LV

RESTRICTIVE PHYSIOLOGY

HEMODYNAMICS

FAMILY´S PEDIGREE

Desmin gene

I367F

MUTATION

Amyloidosis VS Desminopathy

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

Thank you for your attention