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DCM was previously diagnosed in the father of the patient (diagnosis at 40 years of age, heart transplantation required at 52 years, non-cardiac death few days later). No cardiac examination was performed in the other members of the family (see the pedigree, Figure 1). Genetic testing was performed in the 42-year-old patient.
Fig.1: Pedigree of the family.
1/ Which cardiac examination do you recommend at that stage in the family members?
2/ Genetic testing identified a heterozygous mutation of the LMNA (lamin A/C) gene (p.Arg190Trp) in the propositus. Which additional management can you propose to the family members?
3/ The 37-year-old sister of the propositus underwent multidisciplinary outpatient consultation and predictive genetic testing was performed. She carried the mutation (two independent molecular analyses). She had no symptoms except infrequent and short episodes of palpitations (few seconds). Cardiac examination was normal (BP 110/70 mmHg). Two-dimensional echocardiography exhibited normal LVED diameter (49 mm, 29 mm/m2) and LVEF (60%). Pulse TDI Doppler was normal. ECG indicates a normal rhythm (81/mn), normal PR interval (140 ms) (Figure 2). Exercise test (120W, 90% of maximal theoretical heart rate) was normal (especially without PVB). Holter ECG showed only 12 PVB/24h but one short run of non-sustained VT (Figure 3), no conduction defect. Usual biology was normal.
Fig.3:Holter ECG of the sister
Which cardiac management do you propose now to the sister?
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