Pediatric Cardiology Lecture Notes

Flashcards about Pediatric Cardiology

What is an important maternal factor influencing Congenital Heart Defects related to diabetes?

Uncontrolled Diabetes Mellitus

What cardiac defect is influenza in the 1st trimester linked to?

CHD (Congenital Heart Defect)

What is PDA?

Patent Ductus Arteriosus

What is VSD?

Ventricular Septal Defect

What is TOF?

Tetralogy of Fallot

When should all women of childbearing age be vaccinated for Rubella/German Measles?

All women of childbearing age should be vaccinated (and patients should receive a 2nd booster at 6-8 years old).

What maternal condition has a relative risk up to 6% of causing congenital heart defects in offspring?

Maternal Phenylketonuria

What is a conotruncal abnormality?

Abnormalities referring to the aorta and pulmonary artery.

What is TGA?

Transposition of the Great Arteries.

What is a PDA?

Patent Ductus Arteriosus.

What cardiac defect is most common?

Ventricular Septal Defect (VSD)

What is the most common cyanotic heart defect?

Tetralogy of Fallot (TOF)

What is the risk of CHD if the mother has CHD?

5-10% CHD risk up to 3 generations

What percentage incidence of CHD is related to Trisomy 21?

50%

What percentage incidence of CHD is related to Trisomy 18 (Edward’s Syndrome)?

80%

What percentage incidence of CHD is related to Trisomy 13 (Patau Syndrome)?

80-90%

In a child, where is the PMI (Point of Maximal Impluse) normally located?

4th ICS L MCL

In an adult, where is the PMI (Point of Maximal Impluse) normally located?

5th ICS L MCL

What is the normal mean pressure of the Right Atrium?

3 mmHg

What is the normal mean pressure of the Left Atrium?

8 mmHg

What is 2D Echocardiography best at?

Specifically differentiate all the lesions

What is a common clinical sign of VSD (Ventricular Septal Defect)?

Holosystolic (Pansystolic) murmur audible at the left sternal border

What are the indications for surgical repair of a VSD?

Uncontrolled CHF, growth failure, recurrent respiratory infection

What is the most common type of VSD?

Perimembranous VSD

What is the typical auscultation finding for PDA(Patent Ductus Arteriosus)?

Continuous murmur or a systolic-diastolic murmur @ 2nd ICS LUSB

What is the DOC for medical closure of a PDA?

Indomethacin closure

What are the risk factors for PDA?

Prematurity and teratogen exposure (Congenital Rubella Syndrome, Fetal alcohol syndrome, Maternal amphetamine use)

What is a common auscultation finding of ASD (Atrial Septal Defect)?

Widely split and fixed S2

What is the only acyanotic congenital defect with RV enlargement?

ASD

What are potential origins of ASD Secundum (Ostium Secundum Defect)?

Excessive fenestration or resorption of septum primum and Underdevelopment of septum secundum

What causes ASD Primum (Ostium primum defect)?

Failure of the endocardial cushions to close the ostium primum

What commonly presents alongside ASD Sinus Venosus?

Partial anomalous pulmonary venous return

What is a common finding of Atrioventricular Septal Defect (AV Canal)?

Down Syndrome

What is the treatment for complete AV canal defect?

ALWAYS SURGICAL

What auscultation finding is common in Pulmonic Stenosis?

Loud, long, and harsh systolic ejection murmur, usually accompanied by a thrill

What is a common cardiac abnormality in Noonan syndrome?

Pulmonary stenosis as a result of valve dysplasia is the most common cardiac abnormality in Noonan syndrome

Where is the systolic ejection murmur found in Pulmonary Stenosis?

2nd ICS LUSB

What is the most common cause of aortic stenosis?

Valve calcification, usually in patients >70 y/o

What murmur radiates to both sides of the neck?

Aortic Stenosis

Define pulsus parvus et tardus

Narrow & sustained peripheral pulse. This is a sign of Aortic Stenosis.

Where does the ejection systolic murmur originate in Coarctation of the Aorta?

LUSB, base, and over the back

What syndrome is associated with 35% of coarctation of the aorta?

Turner's Syndrome

What imaging finding is classic for Coarctation of the Aorta?

Rib-notching on CXR

List the main sx of Pseudocyanosis?

Bluish tinge of the skin and/or mucous membrane that is not associated with either hypoxemia or peripheral vasoconstriction, Vasomotor instability, Capillary stasis or venous pooling, Hematologic: Polycythemia or Hyperviscosity, Harlequin color changes

What are common causes of Peripheral Cyanosis?

Increased deoxygenation in capillaries, Circulatory shock, CHF, acrocyanosis

What is one way critical CHD can be detected?

Comparing the O2 saturation of the LU and LL extremities; A difference of >3-5% indicates critical cyanotic CHD

What are common signs and sx (besides color) of Cyanosis?

Tachycardia, Tachypnea (increased RR then the patient has cyanotic heart disease with decreased PBF), Mental status changes (e.g. headache, stroke), Dyspnea, Murmur

What treatment is initated in Pulmonary Atresia With Intact Ventricular Septum (PV or PA)?

Prostaglandins to open the pulmonary artery; If PDA does not exists: PDA stenting or a PT shunting is done

What is a common treatment for Tricuspid Valve Atresia?

Prostaglandin E1 IV to keep ductus arteriosus patent

What maternal factor is linked to Ebstein Anomaly?

Maternal use of lithium

List the components (4) of Tetralogy of Fallot?

Overriding Aorta, Large VSD, Pulmonic Stenosis (PS), RVH

List diagnostic subgroups of Tetralogy of Fallot?

TOF, absent pulmonary valve syndrome, TOF, common atrioventricular canal (AVSD), TOF, pulmonary atresia and TOF, pulmonary stenosis (most common)

What classic CXR finding is linked to Tetralogy of Fallot?

Boot-shaped heart or “Coeur en Sabot” or Booting of the heart

List palliative treatments in TOF(Tetralogy of Fallot)

Severe RVOT, Preterm infants (too small for definitive repair), Refractory Tet spell, Coronary artery abnormalities, Pulmonary artery hypoplasia

List some signs and sx of Transposition of the Great Arteries (TGA)?

Cyanosis & Tachypnea within 1st hours/days of life, Heart failure, Mod - Severe Hypoxemia

What CXR sign is common in TGA?

Egg on a string

List features consistent with TOTAL ANOMALOUS PULMONARY VENOUS RETURN?

Abnormal drainage of the pulmonary veins into the R heart (either in SVC, RA, or IVC); The only mechanism by which oxygenated blood can return to the left heart is through an ASD

What is the common CXR sign of TOTAL ANOMALOUS PULMONARY VENOUS RETURN?

Classic “snowman” sign (Head of snowman: enlarged mediastinal vessels and Body snowman: ❤ silhouette)

List the tracheate associated with TOTAL ANOMALOUS PULMONARY VENOUS RETURN?

Supradiaphragmatic, Infradiaphragmatic, Infracardiac and Mixed types

Where does the pulmonary trunk drain in Supradiaphragmatic TAPVR?

Connects to the SVC (Also mat connect to coronary sinus or SVC by a “vertical vein”)

Where does the pulmonary trunk drain in Infradiaphragmatic TAPVR?

CPV connects to IVC

List common clinical findings of Truncus Arteriosus?

Wide pulse pressure , Cardiomegaly, Hyperdynamic precordium, S2 loud and single

The children most affected by ARF are in what age range?

5-15 years old is the ARF Critical period.

What valve is most commonly involved by carditis, in RHD?

Most common valve involved: Mitral valve

What is Jones Criteria mainly?

Mainly a clinical diagnosis → No single diagnostic sign or specific lab test available for diagnosis

What are Jones Criteria (MAJOR)?

(J)oint involvement, (♡) Carditis, (N)odules, Subcutaneous, (E)rythema marginatum and (S)ydenham Chorea

What are Jones Criteria (MINOR)?

(E)SR, (A)cute phase reactants, (P)rolonged PR interval, (C)RP, (A)rthralgia and (F)ever

What is the Primary prevention in RF?

Eradicate of streptococcal tonsillopharyngitis (Benzathine Penicillin G IM 1.2M U Single dose)

What are the main clinical features of Kawasaki Disease?

Fever lasting longer than 5 days, Changes in the extremities, Polymorphous exanthem, Changes in the lips and oropharyngeal mucosa, and skin (mucocutaneous), Bilateral, nonexudative bulbar conjunctival injection and Unilateral non-suppurative cervical lymphadenopathy

What is the main tx goal in Acute phase KD?

↓inflammation (within the first 10 days)

What medication is used in Acute Phase KD?

IVIG 2 g/kg single infusion over 10-12 hours and Aspirin 80–100 mkd QID x 14d / acute phase, after meals

What is the tx goals in SUBACUTE & CONVALESCENT PHASE Kawasaki Disease?

Prevention of thrombosis by inhibition of platelet aggregation.

What medication is used in SUBACUTE & CONVALESCENT PHASE Kawasaki Disease?

Aspirin 3-5mkd OD x 6-8 weeks after onset of illness, if ECG is normal

When is desquamation seen in Kawasaki Disease?

Subacute (~ 14 days post-onset of fever)

What are common cardiac manifestations of Acute KD?

CHF, Myocarditis, Pericarditis, Valvular regurgitation, coronary artery abnormalities and aneurysms of medium sized noncoronary arteries, Raynaud's phenomenon, peripheral gangrene

When does aneurysm occur if IVIG is not given in Kawasaki Disease?

Aneurysm will occur after 10 days if IVIG was not given

What are the mRNA Processings

Introns are excised, Exons are spliced together, Capping is done and Poly A tail is added

Define Silent mutation

Same amino acid despite change in bases

Define Missense mutation

Altered amino acid: A single nucleotide change results in a codon that codes for a different amino acid

Define Nonsense mutation

Stop codon (UAA,UAG,UGA)

Define Frameshift mutation

Premature termination with loss of function or expression

Marfan Syndrome has a defect on what gene?

FIBRILLIN-1 gene (FBN-1) on the Long arm of Chromosome 15

What is a clinical test for Marfan Syndrome?

Steinberg Sign; Fold hands into closed fist, locate tip of thumb; (+) if thumb extends beyond the palm of the hand → Px need to be evaluated for Marfan Syndrome

Familial Hypercholesterolemia has a defect on what gene?

LDL-R gene on Chromosome 19

What causes the deposition of cholesterol leading to Xanthelasmas and Xanthomas

Familial Hypercholesterolemia

Osteogenesis Imperfecta has a defect in what?

Lack of Type 1 collagen

What are common sx of Osteogenesis Imperfecta?

Frequent fractures, Bluish sclera, Hearing loss, Short stature and Loose joints

Neurofibromatosis Type 1 has a defect in what gene?

Tumor Suppressor Gene NF-1 on Chromosome 17

What are common findings in Neurofibromatosis Type 1?

Multiple neurofibromas, Cafe-au-lait spots and Lisch nodules

What are common findings in Maple Syrup Disease?

Maple syrup odor of urine, Poor sucking activity, Lethargy and Hypotonia or Hypertonia

What is a main tx for Maple Syrup Disease?

Dietary modification (Low-CHON diet with ↓levels of LIV AAs for life)

CLASSIC PHENYLKETONURIA has a has a defect in what gene?

PAH gene on Chromosome 12

What builds up with defect on PAH enzyme in CLASSIC PHENYLKETONURIA?

accumulation of Phenylalanine buildup in parts of body

What medication should be avoided for CLASSIC PHENYLKETONURIA

Aspartame (contains Phenylalanine)

What screening detects metabolic disorders?

Newborn Screening

What are the common findings for Galactosemia?

Jaundice, Vomiting, Irritability, Feeding difficulties, Hypoglycemia, Lethargy, Convulsions, Hepatomegaly and Poor weight gain

What are the deficiency in Congenital Adrenal Hyperplasia (CAH)

Deficiency in any of the ff enzymes required for cortisol & aldosterone synthesis → genital changes, early puberty

What enzyme deficiency is most common for Congenital Adrenal Hyperplasia (CAH)

21-hydroxylase

Hemophilia A has a defect on what factors?

Factor VIII

Hemophilia B has a defect on what factors?

Factor IX