Cardio Flashcards
Types of heritable cardiovascular diseases
Cardiomyopathies
Aortopathies
Structural
Channelopathies
Familial dyslipidemia
Types of cardiomyopathies
Hypertrophic cardiomyopathy (HCM)
Noncompaction cardiomyopathy (NCM)
Restrictive cardiomyopathy (RCM)
Arrhythmogenic cardiomyopathy (ACM)
Dilated cardiomyopathy (DCM)
Genetic yield for HCM
70%
Genetic yield for LVNC (left-ventricular non-compaction cardiomyopathy)
10%
Genetic yield for RCM
60%
Genetic yield for ARVC (Arrhythmic right ventricular cardiomyopathy)
80%
Genetic yield for DCM
30%
Cardiac channelopathies can’t be seen by
cardiac imaging or autopsy
Types of channelopathies
Long QT Syndrome
Short QT syndrome
Brugada Syndrome
CPVT (catecolaminergic polymorphic ventricular tachycardia)
Idiopathic VF (ventricular fibrillation)
Genetic yield of Long QT Syndrome
75%
Genetic yield of Brugada syndrome
30%
Genetic yield of short QT syndrome
20%
Genetic yield of CPVT
65%
Genetic yield of idiopathic VF
20%
Torsades de pointes
Specific type of ventricular tachycardia
Proportion of channelopathy gene variants that will have a change in pathogenicity in ClinVar
1:10
Variant calls are becoming ______ certain
less
Brugada Syndrome Gene
SCN5A
How is CHD defined
structural/congenital heart disease
Types of congenital heart disease
Structural heart disease with extracardiac manifestations
Cardiac-only disease
What type of testing is recommended for syndromic CHD
Chromosomal
What type of testing is recommended for non-syndromic structural CHD
Chromosomal and/or sequencing
What type of testing is recommended for cardiomyopathies
Sequencing
Cardiomyopathy is a CHD of the what
Myocardium (heart muscle)
Channelopathies are CHDs with
EGC abnormalities and/or arrhythmias
What type of testing is recommended for channelopathies
Sequencing
Family history questions for CHD
1st degree relatives
CDH, need for heart surgery, need for pacemaker or ICD
Syncope (specifically with exertion), seizures, sudden death, sudden infant death, stillbirths or miscarriages
Unexplained drownings, unexplained car accidents
Cardiac work-up for physical exam
4 ex-bp
Pre-/post-ductal sats
12 or 15-lead ECG
CXR
Things to think about for genetic testing
Extracardiac manifestations or cardiac only
Structural, myocardial, arrhythmic
Cardiac features associated with Turner Syndrome
Left-sided obstructive lesions - aortic stenosis/bicuspid aortic valve, coarctation, HLHS
Partially anomalous pulmonary veins
What percent of neonates with HLHS (hypoplastic left heart syndrome) have a syndrome
10%
What percent of neonates with HLHS have a CMA with a VUS
25%
Percent of live births with CHD
1%
Risk of recurrence for CHD with sibling or parent with CHD
2-5%
Risk of recurrence for CHD with left-sided obstructive lesions
8-19%
Risk of recurrence for CHD with 2nd degree relative
1-2%
Risk of recurrence for CHD with 3rd degree relative
1%
What is the most common CHD
Bicuspid aortic valve
Bicuspid aortic valve has risk for
progressive aortic valve disease
Aortic root aneurysm
What gene is associated with aortic valve disease
NOTCH1
What percent of neonates with CHD have likely pathogenic mutation
2%
11% of Shone complex patients have a mutation in what gene
MYH6
2% of tetralogy of fallot have a mutation in what gene
FLT4
What percent of CHD is de novo
8%
Neonatal dilated cardiomyopathy
rare
my be a syndrome, genetic, and/or idiopathic
Syndromic cardiomyopathies
HCM w/ WPW
Pompe
Fabry
Friedreich Ataxia
Kearns-Sayre
Emery-Dreifuss
Duchenne/Becker
What process if interrupted for Pompe and HCM w/ WPW
Glycogen storage
What process if interrupted for Fabry
Lysosomal storage
What process if interrupted for Friedreich Ataxia and Kearns-Sayre
Mitochondria
What process if interrupted for Emery-Dreifuss and Duchenne/Becker
Neuromuscular
Primary non-syndromic cardiomyopathy gene
TTN (Titin)
Primary cardiomyopathies presenting in neonates is _____
rare
Congenital Long QT Syndrome is what and caused by what genes
delayed repolarization
KCNQ1, KCNH2
Torsades de pointes gives a predisposition to what
lethal ventricular arrhythmias
A child with Duchenne’s muscular dystrophy presents to clinic for regular follow-up care
and education. Which of the following cardiovascular conditions should be discussed
with the family during the appointment?
Cardiomyopathies
Lifestyle changes are often recommended for patients with channelopathies such as
Long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular
tachycardia. Which of the following is true about such recommendations?
Elimination of exercise can have negative psychological impacts
