CHD Group Presentations Notetaking Chart

Fetal Alcohol Syndrome

Cause: Prenatal alcohol exposure (teratogen); no safe amount; fetal blood alcohol concentration is greater than maternal levels.
Common non-cardiac findings: CNS most affected; growth deficiency; neurodevelopmental impairment; characteristic facial features including smooth philtrum, thin upper lip, small palpebral fissures; ADHD; difficulty with social interaction; condition is lifelong.
Cardiovascular Findings: Common defects include VSD (ventricular septal defect), ASD (atrial septal defect), PDA (patent ductus arteriosus), conotruncal defects, and Tetralogy of Fallot. ECG changes reflect underlying heart defect:
  - ASD: Right Atrial Enlargement (RAE), Right Axis Deviation (RAD), rR' in V1;
  - VSD: Left Ventricular Hypertrophy (LVH) or Biventricular Hypertrophy (BVH);
  - PDA: Left Axis Deviation (LAD).

Maternal Screening Tests

Purpose: Assess risk of birth defects and genetic conditions; non-invasive and safe; cannot confirm diagnosis; abnormal results lead to diagnostic testing.
Tests Include:
  - NIPT (Non-Invasive Prenatal Testing): Most accurate, conducted after 10 weeks.;
  - First trimester (11-13 weeks): blood tests (measuring hCG, PAPP-A) combined with NT ultrasound;
  - Quad screen (15-20 weeks): tests for AFP, hCG, estriol, inhibin-A; screens for trisomy 21, 18, neural tube defects.

Newborn Screening Tests

Tests:
  - Pulse oximetry: Conducted at 24-48 hours; screens for critical congenital heart disease (CHD) before discharge; reduces early infant death by approximately 33%;
  - Dry blood spot screening: Assesses metabolic and endocrine disorders;
  - Infant hearing test: Otoacoustic emissions (OAE), Automated Auditory Brainstem Response (AABR).
Pulse oximetry fail criteria:
  - SpO2 <90% at any site;
  - SpO2 <95% on two measurements at least 1 hour apart;
  - More than 3% difference between hand vs. foot measurements;
  - Follow-up with echocardiogram is required.

Trisomy 13 (Patau Syndrome)

Cause: Extra copy of chromosome 13; can be total trisomy (~80%) or partial (translocation); typically not inherited; risk increases with maternal age over 35.
Prevalence: 1 in 8,000 to 12,000;
Common non-cardiac findings: Cleft lip/palate, polydactyly (extra fingers), microcephaly, scalp defects (cutis aplasia), holoprosencephaly, severe physical and mental abnormalities; survival rate for over 20% past infancy.
Cardiovascular Findings: Common defects include VSD, ASD, PDA, dextrocardia; leads to left-to-right shunting; causes pulmonary overcirculation, increased pulmonary vascular resistance (PVR), pulmonary arterial hypertension, decreased systemic output.

Trisomy 18 (Edward's Syndrome)

Cause: Extra copy of chromosome 18; forms include full (95%), mosaic, or partial; risk increases with maternal age over 35.
Prevalence: 1 in 6,000 live births; 95% of fetuses do not survive to term; 90% have congenital heart disease.
Common non-cardiac findings: Hypotonia, low-set ears, overlapping fingers, rocker-bottom feet, micrognathia; significant mortality rates of 55-65% within the first week; 5-10% survive to 1 year.
Cardiovascular Findings: Common defects include VSD, ASD, PDA; leads to left-to-right shunting, pulmonary overcirculation, increased PVR, pulmonary arterial hypertension, decreased systemic output.

Trisomy 21 (Down Syndrome)

Cause: Extra copy of chromosome 21; most common chromosomal disorder.
Prevalence: 1 in 1,000 globally; 1 in 781 in Canada; 50-75% are lost before birth.
Common non-cardiac findings: Flattened face, almond-shaped eyes, short neck, protruding tongue, intellectual disability, developmental delays, hearing/vision loss, hypothyroidism.
Cardiovascular Findings: 50% have congenital heart disease; common defects include Atrioventricular Septal Defect (AVSD) (40% - most common), VSD (32%), secundum ASD (10%), Tetralogy of Fallot (TOF) (6%), PDA (4%). Approximately 30% have more than one defect. Post-operative conduction abnormalities may occur (displaced AV node).

Marfan Syndrome

Cause: Mutation in Fibrillin-1 gene (FBN1); autosomal dominant; affects connective tissue.
Common non-cardiac findings: Tall, thin stature; long arms/fingers (arachnodactyly); long narrow skull; scoliosis; pectus deformities; lens dislocation (ectopia lentis); nearsightedness; stretch marks; low muscle tone; possible lung collapse.
Cardiovascular Findings: Aortic root dilation (main cause of death), mitral valve prolapse, aortic regurgitation; ECG findings include LVH, atrial fibrillation, prolonged PR interval, right bundle branch block (RBBB), prolonged QT interval, T-wave inversions; no cure.

Turner Syndrome

Cause: Missing X chromosome (45,X); monosomy X; happens due to error during cell division (nondisjunction); affects females only.
Common non-cardiac findings: Short stature, webbed neck, low hairline, widely spaced nipples (shield chest), small jaw, ptosis, cataracts, ovarian failure, low estrogen, and hypothyroidism; diagnosis confirmed by karyotyping.
Cardiovascular Findings: Coarctation of aorta (most common), bicuspid aortic valve, Hypoplastic Left Heart Syndrome (HLHS), aortic dissection in adulthood; ECG findings include LVH, RBBB, prolonged QT interval, T-wave abnormalities; hypertension is common.

Noonan Syndrome

Cause: Mutation in RAS/MAPK pathway genes (PTPN11, SOS1, RAF1, KRAS); autosomal dominant; prevalence of 1 in 1,000 to 2,500 births.
Common non-cardiac findings: Characteristic facial features, webbed neck, short stature, developmental delays, learning disabilities, bleeding disorders (clotting factor deficiencies).
Cardiovascular Findings: 50-80% have congenital heart disease; most common defects are pulmonary valve stenosis and hypertrophic cardiomyopathy (2nd most common); additional defects may include ASD and VSD; ECG abnormalities may show left axis deviation, right ventricular hypertrophy (RVH), and Q-wave abnormalities (V5-V6), wide QRS complexes, and possible bundle branch block.

DiGeorge Syndrome

Cause: Deletion of a small part of chromosome 22 (22q11.2 deletion syndrome); affects neural crest cell migration; prevalence of 1 in 2,000 to 4,000 births.
Common non-cardiac findings: Hypoparathyroidism (which leads to low calcium, causing tetany and seizures), thymus dysfunction (immune deficiency), cleft palate, developmental delays, psychiatric conditions, hearing/vision loss, kidney dysfunction.
Cardiovascular Findings: Commonly associated with congenital heart diseases such as VSD, truncus arteriosus, and Tetralogy of Fallot; abnormal blood shunting; ECG changes may include prolonged QT (due to hypocalcemia), right ventricular hypertrophy (RVH), right axis deviation (RAD), and bundle branch blocks.

Williams Syndrome

Cause: Deletion of 25-28 genes on chromosome 7 (7q11.23), including ELN (elastin) and GTF2I; prevalence is about 1 in 7,500 to 10,000 births.
Common non-cardiac findings: Characteristic "Elfin" facies (broad forehead, periorbital fullness, stellate iris, flat nasal bridge), friendly/extroverted personality, developmental delay, hypercalcemia, dental abnormalities, hoarse voice.
Cardiovascular Findings: Supravalvular aortic stenosis (SVAS) is the most common; additional issues may include pulmonary artery stenosis, coronary artery stenosis, and systemic hypertension; ECG may show left ventricular hypertrophy (LVH), ST depression, wide QRS complexes, prolonged QT, and possible arrhythmias.

Holt-Oram Syndrome

Cause: Mutation in the TBX5 gene on chromosome 12 (12q24.1); autosomal dominant; known as "Heart-Hand Syndrome"; prevalence is 1 in 100,000.
Common non-cardiac findings: Upper limb abnormalities (radial ray defects, thumb abnormalities, polydactyly, phocomelia); approximately 75% have limb defects. Affects both sexes equally, with often positive family history.
Cardiovascular Findings: Atrial septal defect (ASD) is the most common; other defects include VSD, conduction abnormalities such as 1st degree AV block, atrial flutter/fibrillation, sinus bradycardia, and bundle branch block, including Wolff-Parkinson-White (WPW) syndrome; around 75% have congenital heart disease.

Kartagener Syndrome

Cause: Primary Ciliary Dyskinesia (PCD); autosomal recessive; defect in cilia impairs mucus clearance.
Common non-cardiac findings: Classic triad includes situs inversus, chronic sinusitis, and bronchiectasis; patients may experience chronic wet cough, recurrent pneumonia, wheezing, dyspnea, and neonatal respiratory distress with hypercapnia (increased carbon dioxide).
Cardiovascular Findings: Associated dextrocardia (heart located on right side); ECG may show inverted P waves in Lead I and aVL, negative QRS and T wave in Lead I, positive QRS/P/T in aVR, extreme right axis deviation, decreasing voltage across precordial leads (V1-V6).

Pediatric Cardiac Tumors

Cause: Often unknown; represented by abnormal cardiac cell growth; associated with genetic conditions such as Tuberous Sclerosis (linked to rhabdomyomas) and Carney Complex (associated with myxomas).
Symptoms: May be asymptomatic; can cause obstruction, arrhythmias, heart failure, or sudden cardiac arrest. Tuberous sclerosis can also lead to seizures, developmental delay, and skin lesions.
Common Tumors:
  - Rhabdomyoma (most common) - often found in ventricles, linked to Tuberous Sclerosis;
  - Fibroma (found in ventricular wall, can cause arrhythmias);
  - Myxoma (typically atrial, associated with Carney Complex);
  - Teratoma (pericardial);
ECG findings: Arrhythmias (PACs, PVCs, SVT, VT), AV block, chamber enlargement, low voltage QRS complexes.

Romano-Ward Syndrome

Cause: Mutation in KCNQ1, KCNH2, or SCN5A genes; autosomal dominant; most common form of Long QT Syndrome (LQTS).
Symptoms: Normal hearing, but symptoms triggered by exercise or emotion; family history of sudden cardiac death (SCD), syncope, palpitations, seizure-like episodes.
Cardiovascular Findings: Prolonged QT interval corrected (QTc); T-wave abnormalities (broad-based for LQT1, low-amplitude/notched for LQT2, prolonged ST with late T for LQT3); associated ventricular tachyarrhythmias pose a risk for sudden cardiac death.

Jervell & Lange-Nielsen Syndrome

Cause: Mutation in KCNQ1 gene; autosomal recessive; rare, severe form of Long QT Syndrome (LQTS).
Symptoms: Key feature is congenital sensorineural deafness; higher risk for cardiac events than Romano-Ward; may present with cardiac arrest as the first event.
Cardiovascular Findings: Markedly prolonged QT interval (QTc); T-wave abnormalities; ventricular tachyarrhythmias; identified as the first hereditary heart rhythm disorder in 1957.

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Cause: Mutation in RYR2 (Type 1 - most common) or CASQ2 (Type 2) genes; inherited channelopathy.
Symptoms: Mean age of presentation is between 6-10 years (can be as late as 40); recognized as a cause of sudden infant death syndrome; symptoms include blackouts, palpitations, dizziness, fainting triggered by exercise or stress.
ECG Findings: Normal resting ECG (commonly misdiagnosed); exercise stress test may provoke ventricular ectopy leading to bidirectional/polymorphic VT; high mortality rate (30-50%); frequently triggered by adrenaline.

Andersen-Tawil Syndrome

Cause: Mutation in KCNJ2 gene (potassium channel); autosomal dominant; rare form of Long QT Syndrome.
Symptoms: Tied to a triad including periodic paralysis, cardiac arrhythmias, and distinctive dysmorphic features such as a small mandible, broad nose, syndactyly, and clinodactyly; prevalence around 1 in 1,000,000.
ECG Findings: Prolonged QT interval with prominent U waves; types of ventricular tachycardia include bidirectional VT and polymorphic VT. Rare and inherently linked to autosomal dominant inheritance.

Brugada Syndrome

Cause: Mutation in SCN5A sodium channel gene (chromosome 3); affects less than 0.02% of the population; exhibited male predominance.
Symptoms: More than 70% of patients are asymptomatic; may experience syncope, dizziness, difficulty breathing, and palpitations; risk of sudden infant death syndrome (SIDS).
ECG Findings: Characteristic ST-segment elevation (Coved type) ≥2mm in V1-V3 with negative T wave (Type 1 - diagnostic); saddleback ST elevation (Type 2); ST elevation <2mm (Type 3). The gold standard treatment is an Implantable Cardioverter-Defibrillator (ICD).

Short QT Syndrome

Cause: Mutation in potassium channel genes (KCNH2, KCNQ1, KCNJ2); results in gain of function leading to faster repolarization; affects 0.1% - 0.02% of the population.
Symptoms: Patients may suffer from atrial fibrillation, palpitations, dizziness, syncope, cardiac arrest, and sudden cardiac death; male predominance and risk for SIDS.
ECG Findings: Short QT interval (0.34-0.36 seconds), symptoms onset related; not rate dependent; features peaked T waves (particularly precordial), short or absent ST segments; can lead to paroxysmal atrial or ventricular fibrillation.

Infective Endocarditis

Cause: Bacterial infection; germs attach to damaged heart tissue; incidence has decreased by 267.6% since 1990; mortality rate is approximately 21.4%.
Symptoms: Include fever, chills, night sweats, fatigue, weight loss, Janeway lesions (palms/soles), Osler nodes (fingertips), splinter hemorrhages, Roth spots (retina).
Cardiovascular Findings: Involves inflammation of endocardium and heart valves leading to vegetation formation; ECG findings may show prolonged PR interval, bundle branch block, ST-T abnormalities; hemodynamic changes include valve regurgitation, heart failure, and emboli complications.

Kawasaki Disease

Cause: Trigger remains unknown but affects genetically susceptible children; involves immune reaction to infection; recognized as leading cause of acquired heart disease in children under 5; not contagious.
Symptoms: Persistent high fever lasting ≥5 days; bilateral conjunctivitis (non-exudative); oral changes such as strawberry tongue and cracked lips; rash; cervical lymphadenopathy; edema of hands and feet; first described by Dr. Tomisaku Kawasaki in 1961.
Cardiovascular Findings: Coronary artery aneurysms represent the most significant complication; systemic vasculitis; myocarditis can occur; ECG changes may include sinus tachycardia, PR interval prolongation, ST-T changes, and QT prolongation during the acute phase.

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/ARVC)

Cause: Genetic mutations involving desmosomal genes (PKP2, DSP, DSG2, DSC2, JUP) and non-desmosomal genes (TMEM43, DES, PLN); characterized by myocardial tissue being replaced by fibrofatty tissue.
Prevalence: Estimated 1 in 5,000 to 1 in 2,000; approximately 55-60% male predominance; accounts for 4% of sudden cardiac deaths identified during autopsy; most common in otherwise healthy individuals under 35.
Symptoms: May arise from right ventricular myocyte loss leading to fibrous and fatty replacement depicted as a “triangle of dysplasia”; ECG findings can show T wave inversion in V1-V3, epsilon wave observations, and evidence of non-sustained/sustained ventriclular tachycardia (VT); progressive right ventricular and subsequently left ventricular dysfunction; symptoms related to right heart failure (RHF).

Familial Hypertrophic Cardiomyopathy (HCM)

Cause: Genetic disorder impacting cardiac sarcomere proteins (MYH7, MYBPC3 account for 70% of cases); autosomal dominant inheritance; prevalence is 1 in 500.
Symptoms: Recognized as the most common cause of sudden cardiac death among young athletes; typically presents with fatigue, dyspnea, chest pain, palpitations, and syncope; median age for diagnosis is approximately 45.8 years.
Cardiovascular Findings: Presents as left ventricular hypertrophy (asymmetric variation, typically in the septal region); ECG abnormalities are evident in 75-95% of patients including LVH, ST/T segment abnormalities, and Q waves; leads to left ventricular outflow tract obstruction resulting from systolic anterior motion (SAM) of the mitral valve; treatments include beta-blockers, Mavacamten (a new treatment option), septal myectomy, and implantation of an ICD (Implantable Cardioverter-Defibrillator).