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Clinical case of syncope in a Hypertrophic Cardiomyopathy patient (with MHY7 gene mutation) Nguyen Thi Mai Ngoc MD, PhD Viet Nam National Heart Institute Bach Mai General Hospital The HCM patient with the MYH7 gene mutation: Male of 36 years old Hospitalized with syncope Diagnosed with HCM since 2003 Symptoms: chest pain, exertional dyspnea Treated with Tildiazem 120 mg/d Family history: Nobody in first-degree relative with HCM The HCM patient with the MYH7 gene mutation:      Physical examination: HR 100 b/min, BP 120/70 mmHg ECG: normal sinus rhythm Ambulatory Holter: no cardiac arhythmias Doppler echocardiography: HCM of asymmetric septal hypertrophy No evidence of left ventricular outflow obstruction Mild mitral regurgitation Cardiac catheterization: No evidence of left ventricular outflow obstruction Normal coronary arteries The HCM patient with the MYH7 gene mutation:   HCM is the most prominent among the genetic heart disease, to be about 0,2% (1.e., 1:500) in the general population HCM is regarded as a disease entity caused by autosomal dominant mutations in genes encoding protein components of the sarcome and its contituent myofilament elements Prognosis profiles for HCM and targets for therapy The HCM patient with the ß myosin heavy chain (MYH7) gene mutation: Genetic testing: MYH7 gene mutation (exon 13, Arg 403 Gln): Characteristic & prognosis implication of myosin missense mutation in HCM:  High risk of sudden death: Mutation Arg403Gln Arg719Trp Arg453Cys  Intermediate risk of premature sudden death: Arg249Gln Glu930Lys  Carrier of other MYH7 mutations would normal risk of premature sudden death: Gly256Glu, Val606Meth, Leu908Val The questions:  How to prevent sudden death in patients with HCM?  What are the best present treatments for HCM? Xin chân thành cảm ơn ! 2011-2013 46 patients were hospitalized and diagnosed with Hypertrophic Cardiomyopathy (HCM) Symptoms included: Chest pain (occurs usually with exercise or physical activity) Shortness of breath (dyspnea), especially with exertion Fatigue (feeling overly tired) Fainting (caused by irregular heart rhythms or no cause found) Palpitations Among the 46 HCM patients: 21 patients with HCM had the pressure gradient in the left ventricular outlet: Age: 16-49 years Gender: Male 62%, Female 38% The mean pressure gradient in the left ventricular outlet: Max: 141 mmHg Min: 31 mmHg > 50 mmHg: 14 pts (67%) Mitral regurgitation: 95% of mild to intermediate MR; 5% with severe MR Among the 21 HCM patients with left ventricular outflow obstruction: 10 patients were genetic tested  But only patient was identified having mutation in myosin heavy chain gene (MYH7 gene)  The genotype was mutation Arg403Gln the ß The mutation Arg403Gln means: At codon position 403 region encoding the globular head of protein of a patient with MYH7 gene point mutations such as nucleotide Arginine (Arg) is replaced by Glutamine (Gln)