Flashcards in Congenital heart defects & inherited cardiac diseases Deck (41)
What is hypertrophic cardiomyopathy?
An unexplained and often substantial thickening of the myocardium of the ventricular wall
How much a patient with hypertrophic cardiomyopathy present?
Dyspnoea, chest pain, palpitations, lightheadedness, fatigue, syncope, sudden cardiac death
Why must you establish whether a patient is suffering from hypertrophic cardiomyopathy or congestive heart failure?
The symptoms of hypertrophic cardiomyopathy mimic those of congestive heart failure, but treatment with diuretics will worsen symptoms (due to decreased ventricular volume and increased outflow resistance)
Is hypertrophic cardiomyopathy inherited in an autosomal dominant or autosomal recessive pattern?
What is the genetic mutation that causes hypertrophic cardiomyopathy?
Mutation in sarcomeric genes resulting in mutated cardiac muscle proteins
Is the hypertrophy symmetrical or asymmetrical?
Asymmetrical - usually involving interventricular septum
Which is the most common heart chamber involved in hypertrophic cardiomyopathy?
When does hypertrophic cardiomyopathy commonly present itself?
Post-puberty in early adulthood
What are some of the serious complications of hypertrophic cardiomyopathy?
What is the first line treatment for hypertrophic cardiomyopathy?
What is the second line treatment for hypertrophic cardiomyopathy?
Calcium channel antagonists i.e. verapamil
What is arrhythmogenic right ventricular cardiomyopathy (ARVC)?
Progressive loss of right ventricular myocytes with associated fibrosis, inflammation and adipose tissue replacement
What is the most important/common complication of ARVC?
Ventricular arrhythmias due to loss of functional RV myocardium by fibrofatty replacement
What genetic mutation leads to ARVC?
Genetic defect of genes encoding for desmosomal proteins
Inherited in autosomal dominant pattern
What are some of the symptoms of ARVC?
How might ARVC present on an ECG?
T wave inversion in leads V1-V3
Right bundle branch block epsilon wave after QRS
What is the first line treatment for ARVC?
What other drugs may be used in the treatment of ARVC?
What other type of drug must be considered when dealing with ARVC? (Consider decreased ejection fraction in RV).
Anticoagulants i.e. warfarin
What is dilated cardiomyopathy?
Enlarged & weakened heart wall with no thickening of the myocardium
What is the most important complication of dilated cardiomyopathy?
What symptoms might dilated cardiomyopathy present with?
Low pulse pressure
Signs of mitral & tricuspid regurgitation
What is the treatment for dilated cardiomyopathy?
What is the most common atrial septal defect?
Patent foramen ovale
Which is the most common form of congenital heart defect?
Ventricular septal defect - accounts for 25% of defects
What are some of the complications of an atrial septal defect?
Cardiac failure in 3rd or 4th decade of life
Increased blood flow in pulmonary circulation
What murmur may be heard in atrial septal defect and why?
Diastolic rumbling murmur
Increased blood flow across tricuspid valve
What complications in the right heart develop if an atrial septal defect is left open?
Right ventricular hypertrophy
Which murmur may be heart in ventricular septal defect?
May have associated thrill