Module 11: Cardiovascular Disease Flashcards
Hereditary Heart disease family history red flags
- Heart disease at a young age (men <55, women <65)
- Sudden death in healthy person
- Sudden infant death syndrome
- Fainting
- Exercise intolerance
- Family history of heart issues
Cardiomyopathy
Heart muscle is enlarged, thickened, or rigid
Familial Hypertrophic Cardiomyopathy (HCM)
- Caused by unexplained left ventricular hypertrophy (LVH)
- Mutations for the contractile unit (sarcomere) of the heart muscles
Arrythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
- The muscle in the right ventricle is replaced by fibrous and fatty tissue
- Impaired contractility
- Most autosomal dominant
- PCP2 mutation most common
Vascular Disease
- Disease of the vascular system including the arteries, veins, & lymph vessels
- Affects blood flow
Familial thoracic aortic aneurysms & dissections (TAAD)
- Autosomal dominant
- Seven known genes
What are the major diagnostic criteria for thoracic aortic aneurysms & dissections (TAAD)?
- Presence of dilation or dissection of the thoracic aorta
- Dissection of the descending aorta distal to the subclavian artery
- Positive family history that is not Marfan syndrome or other connective tissue conditions
Marfan Syndrome
- Autosomal dominant
- Fibrillin-1 gene
- Connective tissue disorder
- Causes aortic root dilation
- Causes mitral valve prolapse
Arrrythmias
An abnormal heart rythm
Long QT Syndrome
- Autosomal dominant
- Defect in the ion channel that affects the electrical activity of the heart
- Delay in recharging the heart can cause ventricular tachycardia
- Many have no symptoms until sudden death
Congenital heart disease
- Structure abnormality of the heart
- Multifactorial
- Caused by a single gene
Familial Hypercholesterolemia (FH)
- Autosomal dominant
- Causes issues with metabolizing cholesterol
What is the most likely reason that single car accidents are a red flag for inherited heart disease?
A cardiac medical event could lead to sudden death while driving
What is a family history red flag for hereditary cardiomyopathy?
First-degree relative w/ a heart transplant before 45yrs old
What term describes the finding that some people with familial hypertrophic cardiomyopathy only have heart palpitations and others experience cardiac arrest?
Variable expression
