Trình bày ca lâm sàng bệnh nhân cơ tim phì đại có ngất

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

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 7 ( 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

 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 ch©n thµnh c¶m ¬n !

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 1 patient was identified having mutation in the ß myosin heavy chain 7 gene (MYH7 gene)

The mutation Arg403Gln means:

of protein of a patient with MYH7 gene point mutations such as nucleotide Arginine (Arg) is replaced by Glutamine (Gln)