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Dilated Cardiomyopathy - 3 Key Symptoms
Left Ventricular Systolic dysfunction (heart can't pump) and reduced heart contraction force +palpitations/arrhythmia; trouble breathing when lying flat; lightheaded +fainting (syncope)
Dilated Cardiomyopathy - Definition
Left Ventricle muscle stretches, thins, and the ventricle becomes larger
Hypertrophic Cardiomyopathy - 3 Key Symptoms
Left Ventricular Diastolic dysfunction (heart can't fill) and ranges from asymptomatic to arrhythmias/heart failure +palpitations; trouble breathing when lying flat AND exercise intolerant +sharp chest pain (angina); lightheaded +fainting (syncope)
Hypertrophic Cardiomyopathy - Definition
Left Ventricle muscle thickens and the ventricle becomes smaller
Arrhythmogenic Right Ventricular Cardiomyopathy - 3 Key Symptoms
Right Ventricular Diastolic Dysfunction (heart can't fill) and reduced relaxation +palpitation/arrhythmia; Exercise intolerance; Orthostatic hypotension (sudden syncope/fainting when standing)
Arrhythmogenic Right Ventricular Cardiomyopathy - Definition
Fat and scar tissue replace muscle in Right Ventricle
Restrictive Cardiomyopathy - 3 Key Symptoms
Global Diastolic Dysfunction (heart can't fill) and global reduced relaxation +palpitation/arrhythmia; trouble breathing when lying flat AND Exercise intolerant; lightheaded +fainting (syncope)
Restrictive Cardiomyopathy - Definition
Global heart muscle rigidity w/ enlarged atria w/out hypertrophy/hypotrophy
Catecholaminergic Ventricular Tachycardia - 3 Key Symptoms
Increases in heart rate (emotional stress, physical activity) trigger tachycardia (palpitations), lightheadedness +fainting (syncope), and sudden death
Long QT Syndrome - 3 Key Symptoms
Fainting (syncope) w/ or w/out stress +sudden death; low heart rate; congenital deafness sometimes
Brugada Syndrome - 3 Key Symptoms
Ventricular tachycardia/arrhythmias +palpitations; Recurrent fainting (syncope), Cardiac arrest
Sudden Cardiac Arrest - 3 Key Conditions
Channelopathies: Long QT Syndrome, Brugada Syndrome, Catecholaminergic Ventricular Tachycardia; Cardiomyopathies: All of them
Familial Hypercholesterolemia - 3 Key Symptoms
Early onset Angina (chest pain), Myocardial infarction (heart attack), Xanthomas/Xanthelasma (cholesterol deposits in tendons and eyelids)
Transthyretic Amyloidosis - 3 Key Symptoms
Progressive peripheral sensorimotor and/or autonomic neuropathy (peripheral tingling/numbness + loss of motor control and/or loss of blood pressure/heart rate/digestion/bladder control); CNS involvement +seizures +dementia; Optic involvement (glaucoma, dry eye, ocular amyloid angiopathy (amyloid build up = blindness)
Dilated Cardiomyopathy - Nonsyndromic Genetics and Inheritance
AD mostly; TTN (20%), LMNA, MYH7, FLNC +many more
Hypertrophic Cardiomyopathy - Nonsyndromic Genetics and Inheritance
AD; MYH7 and MYBPC3 +many more
Arrhythmogenic Right Ventricular Cardiomyopathy - Nonsyndromic Genetics and Inheritance
AD mostly; PKP2, DSG2, DSP +many more
Restrictive Cardiomyopathy - Nonsyndromic Genetics and Inheritance
AD usually; TNNI3 (most common), TNNI2, MYH7, FLCN, DES +many more
Dilated Cardiomyopathy - 3 Associated Syndromes
Duchenne Muscular Dystrophy (XL; DMD); Emery-Dreifuss Muscular Dystrophy (AD/AR LMNA; XL EMD); HFE-Related Hemochromatosis (AR; HFE)
Hypertrophic Cardiomyopathy - 3 Associated Syndromes
RASopathies +Noonan (many AD genes); Friedrich Ataxia (AR; FXN); Metabolic Conditions (Fabry (XL; GLA), Pompe (AR; GAA),
Arrhythmogenic Right Ventricular Cardiomyopathy - Associated Syndromes
Brugada Syndrome (AD; PKP2). That's it.
Restrictive Cardiomyopathy - 3 Associated Syndromes
Transthyretic Amyloidosis (AD; TTR); HJV- and HAMP-Related Hemochromatosis (AR; HJV and HAMP); Metabolic Conditions (Fabry (XL; GLA), Gaucher (AR; GBA), MPS Type 2 (Hunter Syndrome) (AR; IDS))
Dilated Cardiomyopathy - EKG Findings
Low QRS Voltage and Left Bundle Branch Block
Hypertrophic Cardiomyopathy - EKG Findings
High QRS Voltage and Dagger-like Q Waves
Arrhythmogenic Right Ventricular Cardiomyopathy - EKG Findings
T-wave Inversion and Long QRS
Restrictive Cardiomyopathy - EKG Findings
Low QRS Voltage; Abn. P or T waves; Arrhythmias (AV block or Bundle Branch Block)
Dilated Cardiomyopathy - Treatment
ACE-inhibitors and beta-blockers; Implantables (ICD; Pacemaker); avoid physical sports; heart transplant
Hypertrophic Cardiomyopathy - Treatment
Calcium channel blockers and Beta-blockers; Implantables (ICD); avoid physical sports
Arrhythmogenic Right Ventricular Cardiomyopathy - Treatment
ACE-inhibitors and beta-blockers; Implantables (ICD); avoid physical sports; heart transplant
Restrictive Cardiomyopathy - Treatment
Treat underlying cause (amyloidosis/hemochromatosis); Calcium channel blockers and Beta-blockers; Implantables (Pacemaker, ICD); Heart Transplant
Catecholaminergic Ventricular Tachycardia - Genetics and Inheritance
AD; RYR2 or AR; CASQ2
Catecholaminergic Ventricular Tachycardia - EKG Findings
Normal EKG at rest; Crazy QRS under stress
Catecholaminergic Ventricular Tachycardia - Treatment
Beta-blockers and Sodium-channel blockers; Left Cardiac Sympathetic Denervation (LCSD); avoid stress and physical sports; Implantables (ICD) (exact same as LQT)
Long QT Syndrome - Nonsyndromic Genetics and Inheritance
AD usually; KCNQ1 (LGT1), KCNH2 (LQT2); SCN5A (LQT3) are main 3 +many more
Long QT Syndrome - 3 Associated Syndromes
Timothy Syndrome (AD; CACNA1C); Jervell and Lange-Nielsen Syndrome (AR; KCNE1 and KCNQ1); Andersen-Tawil Syndrome (AD; KCNJ2)
Long QT Syndrome - EKG Findings
QT wave >450 ms; Torsade de pointes (twisting of points)
Long QT Syndrome - Treatment
Beta-blockers and Sodium-channel blockers; Left Cardiac Sympathetic Denervation (LCSD); Avoid stress and physical sports; Implantables (ICD) (exact same as CVT)
Brugada Syndrome - Genetics and Inheritance
AD usually; 42 genes account for 35%, the rest are unknown. Most common cause: SCN5A
Brugada Syndrome - EKG Findings
Type 1: Coved ST segment; Type 2: Saddleback ST segment
Brugada Syndrome - Treatment
Treat fevers immediately; Implantables (ICD);
Familial Hypercholesterolemia - Genetics and Inheritance
AD: LDLR, APOB, PCSK9 (GOF); AR: LDLR, APOB, PCSK9 (GOF), LDLRAP1
Familial Hypercholesterolemia - Lab Findings
Elevated total cholesterol and LDL
Familial Hypercholesterolemia - Treatment
Statins to reduce lipids, lifestyle management (exercise, diet, hypertension monitoring)
Transthyretic Amyloidosis - Genetics and Inheritance
AD; TTR
Transthyretic Amyloidosis - EKG Findings
Low QRS voltage, AV block and Bundle Branch Blocks
Transthyretic Amyloidosis - Treatment
Pain management; ambulatory devices and AFO's; symptomatic treatment; Implantables (pacemaker); Dialysis for End Stage Kidney Disease, treatment for Restrictive Cardiomyopathy