SREE CHITHRA TIRUNAL INSTITUTE FOR MEDICAL SCIENCES TECHNOLOGY

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FAMILY STUDY OFFOUR PROBANDS WITH1-IYPERPTROPHIC CARDIOMYOPATHYDUE TODELETION MUTATIONS IN MYH 7 ANDMYBPC3.25
INTRODUCTIONFamilial hypertrophic cardiomyopathy is an inherited autosomal dominant diseasecharacterized by myocardial hypertrophy disproportionate to hemodynamic load {I ).Inappropriate myocardial hypertrophy predominantly involves interventricular septumund anterolateral LV wall in the presence of a non dilated hyperdynamic LV with orwithout L VOT gradient.Hallmark of HCM .is disarray of myofibril and myolibers,usually in excess of 5%, of total myocardium (2). Familial HCM occurs as an autosomaldominant Mendelian inheritance in at least 50% of cases, the rest may be sporadic due tomutations.At least 9 genes are responsible and not less than 125 mutations are(kscribed. Mutation in MHY 7 gene accounts for 30% of described HCM cases (3)Other genes involved are cardiac Troponin .Tin lq 31 in 15%, Alpha Tropomyosin 15q2in 5 1 % myosin binding protein C. II p 13 - q 13 in 10% and rarely ventricular myosinregulatory light chain and ventricular myosin essential light chain in chromosome 12 ()2und 3p respectively. All the mutations identified in Indian patients recently arcunprecedented ( 4). As such, Indian population is ethnically diverse. Ethnical diversitymay be reflected in Indian patients with HCM also. This could very well broaden thescope of genetic and clinical epidemiology of the disease.Recently. more thun onegenetic alteration is reported contributing to severity of disease (5-7).26
Page 1 and 2: SREE CHITHRA TIRUNAL INSTITUTE FORM
Page 3 and 4: PROJECTSUTILITY OF WEEKLY ORAL AZYT
Page 5 and 6: INTRODUCTIONSecondary prophylaxis w
Page 7 and 8: Secondary prevention has evolved fr
Page 9 and 10: for those who arc not tolerating Pe
Page 11 and 12: AIMTo study the utility of once wee
Page 13 and 14: RESULTIt was an open lubel study.Tr
Page 15 and 16: DATA ON FIRST ATTACK OFRHEUMATIC FE
Page 17 and 18: They were followed up for 4 weeks a
Page 19 and 20: when the study drug was continued,
Page 21 and 22: lntrucellular localizution of antib
Page 23 and 24: REFERENCESI. Gene H Stollcnnan: Cha
Page 25: 28. Bruna Facinclli cl al The Lance
Page 29 and 30: ( FAM) analysis. The SSCP analysis
Page 31 and 32: Ul:1 01:2 111:3 U1:4111:1 01:2 Hl:3
Page 33 and 34: 11:2 is a 40 year old lady, symptom
Page 35 and 36: Ill: I is the 19 year old daughter
Page 37 and 38: Nl, FAMILYProband (11:8) is a 54 ye
Page 39 and 40: DISCUSSION7/22 patients (77.3%) had
Page 41 and 42: esult from complex inheritance patt
Page 43 and 44: ReferencesI. WATKINS H, SEIDMAN JG,
Page 45: 13-myosin heavy chain gene have a s

SREE CHITHRA TIRUNAL INSTITUTE FOR MEDICAL SCIENCES TECHNOLOGY

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