CARDIO: Congential Heart Defects and Hereditary Heart Issues Flashcards
We have a kiddo with the following:
-tires easily, sweats while feeding
-turns blue while crying
-systolic ejection murmur heard over left upper sternal border and a single s2 in present
this is characteristic of
Tetralogy of Fallot
How does squatting help w/tetralogy of fallot symptoms?
Squat–> increase in systemic vascular resistance–>increase in left ventricle outflow resistance–> Left ventricle pressure–> less right to left shunting so blood in the right ventricle will be directed through the pulmonary vasculature rather than the VSD.
What kind of shunting do we see in cyanotic congenital heart defects?
Right to left
In cyanotic CHDs: right-to-left cardiac shunting → blood flow from the right to the left heart → deoxygenated blood entering the systemic circulation → cyanosis
What are some cyanotic heart defects?
The “5 Ts” of cyanotic CHDs: Tetralogy of Fallot, Transposition of the great vessels, Tricuspid valve anomalies, Total anomalous pulmonary venous return, and persistent Truncus arteriosus
2 yo boy w/ 3/6 holosystolic murmur over the LLSborder and diastolic mumur heard best at the apex is concerning for
VSD:
Holosystolic: indicating flow through the defect
Diastolic Rumble:diastolic rumble (increased flow through the mitral valve during diastole)
these kids are proned to resp infections secondary to congestion of the pulmonary vessels
VSD: cyanotic or acyanotic?
acyanotic congenital heart defects that manifest as a left-to-right shunt.
How does VSD lead to increased pulm vasculature resistance and RV hypertrophy?
VSD can lead to chronic volume overload of the right ventricle (RV) and subsequently increased blood flow through the pulmonary vasculature. This increased flow causes irreversible remodeling of the small pulmonary vessels, leading to increased pulmonary vascular resistance and RV hypertrophy.
What is Eisenmenger Syndrome?
Left to right shunt reversal to right to left due RV hypertrophy and RV pressure surpassing LV pressure.
VSD can lead to chronic volume overload of the right ventricle (RV) and subsequently increased blood flow through the pulmonary vasculature. This increased flow causes irreversible remodeling of the small pulmonary vessels, leading to increased pulmonary vascular resistance and RV hypertrophy. RV pressure increases until it exceeds left ventricular (LV) pressure, at which point the shunt is reversed. This shunt reversal is known as Eisenmenger syndrome.
Pathogenesis of digital clubbing
Chronic tissue hypoxia and megakaryocyte fragmentation are primary factors involved in the pathogenesis of digital clubbing. In Eisenmenger syndrome, blood can completely bypass the pulmonary vasculature, allowing whole megakaryocytes into the systemic circulation. Once these intact cells reach distal capillaries in the hands and feet, they impact and subsequently fragment. This fragmentation causes the release of platelet-derived growth factor and vascular endothelial growth factor, inducing angiogenesis and local mesenchymal growth and proliferation, which clinically manifests as digital clubbing.
Most common hereditary heart disease
Hypertrophic cardiomyopathy
mutations of the sarcomeric protein genes (e.g., myosin heavy chain, myosin binding protein C) → disorganization of myocyte architecture characterized by myofibrillar disarray and fibrosis
this leads to decreased compliance of LV and hypertrophy of the left ventricle; with asymmetrical septal involvement, which leads to diastolic dysfunction (impaired left ventricular relaxation and filling) → reduced systolic output volume → perfusion.; → cardiac arrhythmia and/or heart failure and increased risk of sudden cardiac death
This is most likely
HCM
HCM is a genetic condition characterized by otherwise unexplained left ventricular hypertrophy. ; [1][2]
Most common hereditary heart disease
Autosomal dominant
Tetralogy of Fallot (TOF) is the simultaneous occurrence of what four defects?
Right ventricular outflow tract obstruction (RVOTO) due to pulmonary infundibular stenosis
Right ventricular hypertrophy (RVH)
Ventricular septal defect (VSD)
Overriding aorta (the aorta is displaced above the VSD)
Congenital heart defects associated with Down syndrome
Congenital heart defects associated with Down syndrome include atrioventricular, ventricular, and atrial septal defects.
Left to right shunts are (cyanotic or acyanotic)
acyanotic
note that these can become cyanotic in the event of eisenmenger syndrome
Right to left shunts are (cyanotic or acyanotic)
cyanotic
