SREE CHITHRA TIRUNAL INSTITUTE FOR MEDICAL SCIENCES TECHNOLOGY

MM family has 12 genetically related individuals.2 sudden cardiacdeaths occurred in this family. There are 7 patients with disease and 2 who arc carriers.Proband has class II symptoms and one mutation in MYH 7. Beta myosin heavy chainmutation was seen in 4 more patients. None with this mutation failed to express diseuse.Myosin binding protein C mutation was seen in 2 patients and 2 are carriers. One patienthad both mutations and was most severely symptomatic.Mil~ Ji'AMILY:Proband (l:l ) is 67 year old, symptomatic for 10 years with palpitation andAOE(from age 57. He has no angina or syncope. Patient has atypical burning chest pain.Clinically S4 present. No murmur. ECG showed a QRS axis of+ 30, LVH, T inversionin Ll, LII, avL V2 - V6. Echo showed concentric LVH, mild MR, no SAM, severediastolic LV dysfunction, no L VOTO. His TMT was mildly positive in 1996. Cathshowed increased LV filling pressure, and CAG showed mid LAD bridge.Geneticanalysis showed 25 hp delta intron 32 mutation of MYBPC3.1:2, wife of proband MiR is normal.II: I is MiR's brother's daughter, 51 year old asymptomatic lady; clinically normal, hasno ECG change, echo showed mild concentric LVH, no SAM, no MR and no LVOTO.She has MYBPC3 mutation.II :2 is a 40 year old, normal.11:3 is a 36 year old lady, asymptomatic carrier.11:4 is a 23 year old lady, asymptomatic carrier.33