SREE CHITHRA TIRUNAL INSTITUTE FOR MEDICAL SCIENCES TECHNOLOGY

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If:( is a 46 year old man, having class II angina and stage II hypertension. His ECGshowed T wave changes, no LVH. Echo was normal. He has mutant gene. CAD is notruled out.11:3 is a 38 year old lady, normal.11:4 is a 37 year old man, symptomatic from 34 years of age. Clinically normal. ECGshowed LYH by voltugc, T waves changes and abnormal Q waves. Echo shoed no LVH,no SAM, No MR, No LVOTO. However echo suggested increased echogenicityof' fVS.I fc has mutation by genetic analysis. Patient is on Beta blocker.11:5 is 34 year old man, smoker and alcoholic, is asymptomatic. He is clinically normal.ECG showed Q in V3, T inversion in aVL and no LVH. Echo showed mild concentricL VH. No SAH no MR, & no LVOTO. Mid JVS is hyperechoeic. Patient is on Betablocker. He has mutation.Ill: 1 is 15 year old son off I: 1, normal.Ill :2 is 16 year old daughter of II: 1, clinically normal. She is carrier.11:3 is 13 year old son of lf:2, nomml.Ill :4 is 11 year old daughter of II:2 she is a carrier.I II: 5 and llf :6 arc normal. Parent II :3 is also genetically normal.No SCD occurred in HH family.There arc 4 patient with morphologic HCM. Two are carriers. Afnicted patients arebeyond 30 years of age and arc only mildly symptomatic, indicating a less severe form ofdisease.35
Nl, FAMILYProband (11:8) is a 54 year old man with clinical onset of disease at th ugc of 40with class II angina, , dysponoea and pre-syncope. His halter showed VPC's and NSVT.Clinically he had cardiac enlargement, palpable S:4 and 3/6 dynamic LVOT murmur.ECG showed LVII, LAE, T inversion in LI, aVL, V4- V6 and Q in aVL. Echo showedasymmetric septal hypertrophy (IVS 19/26, PW 10/21) SAM, mild to moderate MR andL VOT gradient of 45mm Hg.His cardiac catheterization showed bisferiens aortictrueing, septal hypertrophy and SAM. L VEDP was 28 mm Hg.He had an RVOTgradient of lOmm Hg, a Waves were prominent in JVP. Coronaries were normal. He isun Atcnolol and Amiodarone.I: I father of proband died at the age of 76, cause of death is not known.I :2 ;mother of proband ;died at the age of 72, was not known to have heart disease.II: 1 had SCD at age 72, no further details available.11:2 is a 72 year old man ,normal. No mutation.II :3 had SCD at the age of 43. He was known to have heart disease, but no furtherdetails are available.II :4 had SCD at age 55. No details available.11:5 had SCD at 52 years of age. He was known to have heart disease, hut no furtherdetails available.II:(, is a 59 year old lady, has stage I HBP, normal.11:7 is the twin sister of proband ,is normal.Ill: I 31 year old daughter of II :2 ,normal.111:2 47 year old son of 11:3, normal.36
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 and 26: 28. Bruna Facinclli cl al The Lance
Page 27 and 28: INTRODUCTIONFamilial hypertrophic c
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: Ill: I is the 19 year old daughter
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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