Tuesday, December 21, 2010

Educational case study

Educational case study. Read, think, then answer the questions:

A 42-year-old man was addressed to the department because of dyspnoea (class II NYHA) and a recent diagnosis of dilated cardiomyopathy (LV EDD 61 mm, LVEF 38%, IVS 9 mm on Echocardiography). Sinus rhythm was present on ECG, with incomplete LBBB, PR interval was 200 ms). Holter was characterized by 253 PVB/24h including one triplet, no conduction defect. After medical treatment including ACE inhibitor and betablocker, no significant PVB was observed (only few isolated PVB). Biology was unremarkable, including CK plasma level. Then an episode of near-fainting led to electrophysiological testing that demonstrated mild sinus dysfunction and mild nodal AV block. Evolution under medical treatment was satisfactory.
Fig.1: Pedigree of the family.
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.
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.2: ECG of the sister.    
 Fig.3:Holter ECG of the sister

Which cardiac management do you propose now to the sister?
Notes to editor: 
Presented by Dr. Philippe Charron, Department of Cardiology, Pitié-Salpêtrière Hospital and Paris 6 University, Paris, France.

I power

Health Blogs - Blog RankingsMyWellsphereListed in Blogs By CountryHealth Blogs - Blog Top SitesHealth blogsintoIslam.com Islamic Search Engine & DirectoryHealth Blogs - BlogCatalog Blog Directory BlogsByCategory.comAfrigator My Blog on VerveEarth Alot of Blogs Blog search directory DISCLAIMER: The views expressed here are those of the individual comments, and should not be taken to represent the view of the blog author.