Cardiomyopathy, familial hypertrophic

A genetic disorder characterized by thickening of the heart muscle

Familial Hypertrophic Cardiomyopathy
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Shortness of breath, chest pain, palpitations
Complications	Heart failure, arrhythmias, sudden cardiac death
Onset	Adolescence or early adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Echocardiogram, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Medications, lifestyle changes, surgery
Medication	N/A
Prognosis	N/A
Frequency	1 in 500 people
Deaths	N/A

Familial Hypertrophic Cardiomyopathy (HCM) is a genetic disorder characterized by the thickening of the heart muscle, particularly the left ventricle. This condition can lead to a variety of symptoms and complications, including heart failure, arrhythmias, and an increased risk of sudden cardiac death.

Pathophysiology

HCM is primarily caused by mutations in genes that encode proteins of the cardiac sarcomere, the fundamental unit of muscle contraction. The most commonly affected genes include MYH7, MYBPC3, TNNT2, and TNNI3. These mutations lead to abnormal thickening of the heart muscle, which can obstruct blood flow and impair the heart's ability to pump blood effectively.

Symptoms

The symptoms of HCM can vary widely among individuals. Some people may remain asymptomatic, while others experience:

• Dyspnea (shortness of breath)
• Angina (chest pain)
• Palpitations
• Syncope (fainting)

Diagnosis

The diagnosis of HCM is typically made using an echocardiogram, which can visualize the thickened heart muscle. Genetic testing can confirm the diagnosis by identifying mutations in the sarcomere genes. Other diagnostic tools include electrocardiogram (ECG) and cardiac MRI.

Treatment

Treatment for HCM focuses on managing symptoms and preventing complications. Options include:

• Beta blockers or calcium channel blockers to reduce heart rate and improve blood flow
• Antiarrhythmic drugs to manage arrhythmias
• Implantable cardioverter-defibrillator (ICD) for those at high risk of sudden cardiac death
• Surgical myectomy or alcohol septal ablation to reduce obstruction in severe cases

Prognosis

The prognosis for individuals with HCM varies. With appropriate management, many people can lead normal lives. However, the risk of complications such as heart failure and sudden cardiac death necessitates regular monitoring and follow-up care.

Genetic Counseling

Since HCM is a genetic condition, genetic counseling is recommended for affected individuals and their families. This can help assess the risk of transmission to offspring and guide family planning decisions.

Also see

• Cardiomyopathy
• Dilated cardiomyopathy
• Restrictive cardiomyopathy
• Sudden cardiac death
• Heart failure

Cardiovascular disease A-Z

Most common cardiac diseases

• Cardiac arrhythmia‎
• Cardiogenetic disorders‎
• Cardiomegaly‎
• Cardiomyopathy‎
• Cardiopulmonary resuscitation‎
• Chronic rheumatic heart diseases‎
• Congenital heart defects‎
• Heart neoplasia‎
• Ischemic heart diseases‎
• Pericardial disorders
• Syndromes affecting the heart‎
• Valvular heart disease‎

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

A

• Accelerated idioventricular rhythm
• Acute decompensated heart failure
• Arteriosclerotic heart disease
• Athletic heart syndrome
• Atrial flutter
• Atrioventricular fistula
• Cardiovascular disease in Australia
• Autoimmune heart disease

B

• Brown atrophy of the heart

C

• Ebb Cade
• Cardiac allograft vasculopathy
• Cardiac amyloidosis
• Cardiac asthma
• Cardiac tamponade
• Cardiogenic shock
• Cardiogeriatrics
• Cardiorenal syndrome
• Cardiotoxicity
• Carditis
• Coronary artery aneurysm
• Coronary artery anomaly
• Coronary artery disease
• Spontaneous coronary artery dissection
• Coronary artery ectasia
• Coronary occlusion
• Coronary steal
• Coronary thrombosis
• Coronary vasospasm
• Cœur en sabot
• Coxsackievirus-induced cardiomyopathy

D

• Duke Treadmill Score
• Duroziez's disease

E

• Eisenmenger's syndrome
• Embryocardia
• Endocardial fibroelastosis
• Eosinophilic myocarditis

H

• Heart attack
• Heart failure
• Heart failure with preserved ejection fraction
• Heart to Heart (1949 film)
• High-output heart failure
• Hyperdynamic precordium

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

I

• Idiopathic giant-cell myocarditis
• Interventricular dyssynchrony
• Intraventricular dyssynchrony
• Isolated atrial amyloidosis

K

• Keshan disease

L

• Loeffler endocarditis

M

• Mydicar
• Myocardial bridge
• Myocardial disarray
• Myocardial rupture
• Myocardial scarring
• Myocardial stunning
• Myocarditis

N

• Nonbacterial thrombotic endocarditis

O

• OLR1
• Ostial disease

P

• Papillary fibroelastoma
• Pathophysiology of heart failure
• Postpericardiotomy syndrome
• Pulmonary vein stenosis

R

• Right axis deviation
• Roemheld syndrome

S

• Saturated fat and cardiovascular disease
• SCAR-Fc
• Shone's syndrome
• Strain pattern
• Subacute bacterial endocarditis
• Sudden cardiac death of athletes

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

T

• Traumatic cardiac arrest

V

• Ventricular aneurysm
• Vibroacoustic disease
• Viral cardiomyopathy

W

• Waon therapy