PAINE #PANCE Pearl – Pediatrics



Question

A 3yo girl is brought to your office by her parents for concern of asthma. They state that when she plays with her siblings, she often gets short of breath and needs to stop to rest for a few minutes. She is otherwise healthy and was born at 38 weeks gestation via cesarean section. She has had an uncomplicated past medical history and is up to date on all immunizations.

Physical examination reveals a well-nourished, well-developed girl, who is at 67% for height and 46% for weight for her age. Vital signs are BP-110/68, HR-87, RR-13, O2-100%, and temperature-98.7o. There is no evidence of cyanosis and auscultation findings are below.

  1. Describe what you hear.
  2. What condition is this most suggestive of?
  3. What is the management of this condition?

Answer

  1. Continuous, holosystolic, blowing mumur with a faint split S2

2. This type of murmur and the above clinical features are most likely due to a patent ductus arteriosus.

3. After a Doppler echocardiogram has been performed, surgery would be the next step to close this defect. Pharmacologic therapy does not work as well in older infants and children. Transcatheter closure would be the preferred option given the patient’s age.

#58 – Acyanotic Congenital Heart Defects



***LISTEN TO THE PODCAST HERE***



Click Here for Episode #11 – Review of Cyanotic Congenital Heart Defects



Review of In-Utero and Neonatal Cardiovascular Physiology

  • Ductus arteriosus
    • Connects the pulmonary artery to the descending aorta
    • Prostaglandin E2 are produced by the placenta and keep this open, along with low arterial oxygen concentration
    • Begins to close 10-15 hours after delivery and should be completed by 2-3 weeks of age
  • Foramen ovale
    • Communication between right and left atrium
    • Once the infant begins spontaneously breathing, increases in pulmonary blood flow and left atrial pressures mechanically seals the foramen ovale

Review of Initial Approach to Screening for Congenital Heart Diseases

  • The main approach to initial cardiac evaluation for infants with suspected heart disease is to determine:
    • Innocent vs Congenital Heart Disease
      • Cyanotic vs Acyanotic
      • Indications for emergent referral
  • Historical Clues
    • Symptomatic
      • Cyanosis, respiratory, poor growth, poor feeding, syncopal episodes
    • Family History
      • Parent or sibling with congenital heart disease
        • 1st degree relative with any CHD – RR 3.21
    • Genetic syndromes
    • Prenatal Evaluation
      • Abnormalities on prenatal ultrasound
      • Maternal factors that increase risk
        • Multifetal pregnancy, prematurity, preeclampsia, DM, HTN, Age > 40, alcohol/substance use, smoking,
    • Age of child
  • Physical Examination
    • Murmurs
      • Innocent murmur
        • ≤ Grade 2
        • Short systolic phase
        • Minimal radiation
        • Soft intensity
    • Extra Heart Sounds
      • Abnormal S2
      • S3 or S4
      • Systolic click
      • Thrills and heaves
    • Other Findings
      • Abnormal vital signs
        • BP differences between right arm, left arm, and legs
        • Weak or bounding pulses
      • Hepatomegaly
  • Diagnostic Studies
    • Pulse oximetry screening
      • Measure in right hand (pre-ductal) and either foot (post-ductal)
    • Chest radiograph
      • Cardiomegaly, increased pulmonary vascular markings, pulmonary edema
    • EKG
      • LVH, RVH, abnormal axis, dysrhythmias, prolonged QT
    • Echocardiogram
Up-to-Date. 2020

Ventricular Septal Defect

Epidemiology

  • 30% of all CHD (most common)

Normal Development

  • Three main components
    • AV canal septum (1)
    • Muscular septum (2)
    • Parietal band or distal conal septum (3)
  • Closure of the interventricular foramen is dependent on:
    • Right-sided endocardial cushions  projecting into the AV canal
    • Connective tissue growth on the crest of the muscular septum
    • Downward growth of ridges dividing the conus
Up-to-Date. 2020

Types

  • Membranous Defects
    • Most common clinically significant VSD
    • Under aortic valve and behind septal leaflet of the tricuspid valve
      • May extend into muscular septum
    • Can be associated with LVOTO and coarctation
  • Muscular Defects
    • Located along right ventricular free wall-septal junction, in the central muscular septum, or in the apical septum
    • Often close spontaneously
  • Malalignment Defects
    • Result from anterior/posterior malalignment of the conal septum
    • Associated with Tetralogy of Fallot
  • Subpulmonic Defects (outlet)
    • Superior and anterior conal septum defects
  • AV Canal Defects (inlet)
    • Posterior and superior to annulus of tricuspid valve
    • Associated with ASDs
Up-to-Date. 2020

Pathophysiology

  • Cause no problems in-utero
  • Causes a left-to-right shunt ex-utero
    • Higher left ventricular pressures
  • Categorization is based on:
    • Size
      • Small – < 4mm
      • Moderate – 4-6mm
      • Large – > 6mm
    • Shunt (Pulmonary:Systemic flow)
      • Small – Qp:Qs < 1.5
      • Moderate – Qp:Q 1.5-2.3
      • Large – Qp:Qs > 2.3
  • Effects on Circulation
    • Pulmonary
      • Increased and causes tachypnea and increased respiratory effort
    • Systemic
      • LV output must increase to maintain systemic flow
      • As systemic flow decreases (large VSDs):
        • Increased alpha-adrenergic stimulation
        • Increased catecholamine release
        • Increased angiotensin release
      • Increases risk of heart failure

Natural History

  • Small
    • 75% close spontaneously within 2 years of life
    • Those that persist in adulthood are benign
  • Moderate
    • Spontaneous closure depends on pulmonary arterial pressure and size/location of defect
    • Can respond to medical management
  • Large
    • Rarely spontaneously close
    • Surgery must be performed within 1st year to avoid permanent pulmonary vascular resistance

Clinical Presentation

  • Prenatal
    • Moderate to large VSD can be diagnosed during 20week ultrasound
  • Postnatal
    • Small VSD
      • Can be asymptomatic and present with only a murmur
    • Moderate to Large VSD
      • Present 3-4 weeks from birth with signs and symptoms of heart failure
        • Tachypnea
        • Poor feeding or poor weight gain
        • Tachycardia
        • Hepatomegaly
        • Rales, retractions
      • Cardiac Examination
        • Murmur
          • Harsh or blowing holosystolic
          • Heard best at 3rd-4th intercostal space
          • May have a diastolic rumble
            • Increased flow across mitral valve
          • Loud, splitting of S2
            • Due to increased pulmonary arterial pressure
        • Palpable thrill may be present

Diagnostic Studies

  • EKG
    • LVH, RVH, RAE
  • Chest Radiograph
    • Increased pulmonary vascular markings
  • Echocardiography
    • Two-dimensional Doppler confirms diagnosis
Radiopaedia

Management

  • Expectant
    • Most small VSD close spontaneously
    • Follow-up every 6 months with cardiologist until murmur resolves or yearly if murmur persists but still asymptomatic
  • Medical
    • Heart failure management
      • Diuretics are first line
    • Nutritional support
    • Pulmonary hypertension management
      • May need cardiac catheterization for accurate measurements and determination for surgical management
  • Surgical
    • Indications
      • Persistent symptoms with maximal medical therapy
      • Moderate/large defects with pulmonary hypertension
      • Persistent left-to-right shunt with LV dilation
      • Associated aortic valve prolapse or aortic regurgitation
      • Double-chambered right ventricle
    • Direct patch closure is procedure of choice in most children
    • Transcatheter closure is technically challenging and not offered routinely due to higher incidence of AV block and valve injury

Atrial Septal Defect

Epidemiology

  • 10-15% of all CHD
  • 1-2 per 1000 live births

Normal Development

  • Begins at 5th week and is made up of 3 structures
    • Septum primum and AV canal septum (endocardial cushions)
      • Arises from superior portion of common atrium
      • Grows caudally towards AV canal septum
        • These two fuse close ostium primum between right and left atria
    • Septum secundum
      • Covers the ostium secundum on the right atrial side of the septum primum
        • Forms the fossa ovalis
      • Leaves a small opening in-utero
        • Foramen ovale
          • Held open due to pressure gradients between the higher right atria and lower left atria
            • Allows for right to left flow
Up-to-Date. 2020

Types

  • Primum Defect
    • 15-20% of ASDs
    • Occurs when primum septum does not fuse with endocardial cushions
  • Secundum Defect
    • 70% of ASDs
    • 2x more common in females
    • Located within the fossa ovalis
  • Sinus Venosus Defect
    • 5-10% of ASDs
    • Malposition of the insertion of the superior or inferior vena cava on the atrial septum
  • Patent Foramen Ovale
    • Identified on 30% of adult autopsies
    • NOT considered an ASD because no septal tissue is missing
Up-to-Date. 2020

Natural History

  • Most close spontaneously
    • >80% of small (<5mm)
    • 30-60% of moderate (6-10mm)
    • Large (>10mm) do not close spontaneously
  • Persistent ASDs can cause pulmonary hypertension and heart failure in adulthood

Clinical Presentation

  • Most are asymptomatic and diagnosed only by identification of murmur
  • Murmur
    • Midsystolic pulmonary flow or ejection murmur
      • Heard best left 2nd intercostal space
    • Wide, fixed split S2
      • ASD equalizes the respiratory effect on both right and left ventricular output
      • If pulmonary hypertension is present, there may be an accentuated pulmonic component of S2
    • May have associated mitral regurgitation murmur

Diagnostic Studies

  • EKG
    • May show rSr’ or rsR’ pattern in V1
      • Incomplete RBBB
  • Echocardiogram
    • Transthoracic may see, but a transesophageal is better

Management

  • Often watch until child is 2yo as most will spontaneous
    • Even persistent defects are not recommended to close
  • Closure Indications
    • Right heart enlargement
    • Pulmonary overcirculation
    • Substantial left-to-right shunt
  • Types of Closures
    • Percutaneous
      • Criteria
        • < 30mm is diameter
        • ≥ 5mm or rim tissue around defect sufficient for effective closure without obstructing surrounding structures
      • Avoids bypass and major surgical incisions
      • Complications
        • Device embolization, malposition, dysrhythmias, cardiac perforation
    • Surgery
      • Indications
        • Sinus venosus defects
        • Coronary sinus defects
        • Primum ASDs
        • Large ASDs with heart failure
      • Closed with pericardial or Dacron patch

Atrioventricular Septal Defect

Epidemiology

  • 4-5% of CHD
  • 0.3-0.4 per 1000 live births
  • Up to a 50% risk of trisomy 21

Normal Development

  • Primitive AV canal connects the atria with the ventricles
  • At 4-5 weeks gestation, the superior and inferior endocardial cushions fuse and form the AV canal
    • This contributes to the AV valves and septum

Types and Classifications

  • Classified based on the degree of the defect
    • Complete
      • Complete failure of fusion between the superior and inferior endocardial cushions
        • Combined primum ASD and posterior VSD with a single, common AV valve
      • Can be balanced (both ventricles get same flow) or unbalanced (one gets more than the other)
        • Unbalanced can lead to hypoplasia
    • Partial
      • Incomplete fusion of superior and inferior endocardial cushions
        • Primum ASD, single AV valve annulus with 2 valve orifices
    • Transitional
      • Large primum defect, cleft mitral valve, and inlet VSD
Up-to-Date. 2020
  • Rastelli Classification
    • Type A
      • Most common form and most common ASVD with Down syndrome
    • Type B
      • Least common
    • Type C
      • Frequently found with other conditions
        • Tetralogy of Fallot, Transposition of Great Vessels
Up-to-Date. 2020

Pathophysiology

  • Complete AV Canal Defect
    • Increased pulmonary blood flow due to left-to-right shunting
      • Leads to heart failure and pulmonary hypertension
  • Partial AV Canal Defect
    • Volume overload of right atrium and right ventricle with pulmonary overcirculation due to left-to-right shunting
      • No pulmonary hypertension
    • Mitral regurgitation can be severe
  • Transitional AV Canal Defect
    • Shunting often mild due to small VSD

Clinical Presentation

  • In-Utero
    • Can be diagnosed early during pregnancy
    • Rarely cause any fetal distress or growth disturbances
  • Complete
    • Heart failure develops early in infancy
      • Tachypnea, poor feeding, poor growth, sweating, and pallor by 2 month
      • Severity of symptoms depends on size and degree of AV valve regurgitation
    • Physical examination
      • Hyperactive precordium with inferior/laterally displaced PMI
      • Increased S2
      • Systolic ejection murmur heard best at left upper sternal border
  • Partial and Transitional
    • Asymptomatic during childhood and only diagnosed on routine examination
    • Physical examination
      • Wide and fixed S2 during respiration
      • Systolic ejection murmur heard best at left upper sternal border
        • Diastolic rumble may be heard
        • Holosytolic murmur of MR

Diagnostic Studies

  • Echocardiography
    • Transthoracic is adequate
    • Apical four chamber or subcostal view is best to see defect

Management

  • In general, surgical correction is recommended because of significant morbidity and mortality of the pulmonary circulation effects
  • Complete
    • Correction by 6 months of age to prevent permanent pulmonary hypertension
    • Close the ASD and VSD and create to separate, competent AV valves
      • Single-patch or double-patch
Up-to-Date. 2020
  • Partial and Transitional
    • Primum ASD does not close spontaneously and leaves the patient at risk for atrial fibrillation and heart failure later in life
    • Surgical goal is to close intraatrial communication and restore/preserve AV valve competence
      • Patch closure of ostium primum defect and mitral valvuloplasty
    • Timing is usually between 18 months and 3 years

Patent Ductus Arteriosus

Epidemiology

  • 3-8 per 10,000 live births
  • 2:1 female predominance

Normal Development

  • Derived from the embryonic left sixth arch
  • Actually has different tissue than the aorta or pulmonary artery
    • Intima is thicker
    • Media contains more smooth muscle
  • In utero, allows from RV flow to placenta to get oxygenated
  • Keep open by low arterial oxygen and prostaglandin E2 from placenta
  • At birth, increased levels of arterial oxygen and the lack of prostaglandin E2 begins the process of spontaneous closure

Clinical Presentation

  • Symptoms depend on the degree of left-to-right shunting
    • Dependent on size and length of PDA, as well as the difference between the pulmonary and systemic vascular resistances
  • Classic murmur
    • Continuous, holosystolic murmur
      • Machinery murmur
    • Heard best over left upper sternal border
  • Small (Qp:Qs < 1.5 to 1)
    • Asymptomatic and detected on routine physical examination
  • Moderate (Qp:Qs 1.5-2.2 to 1)
    • May present with exercise intolerance and heart failure
      • Left-to-right shunt increasing left atrial and ventricular volume
        • Progress to left ventricular dilation and dysfunction
    • Displaced PMI
    • Widened pulse pressure
  • Large (Qp:Qs > 2.2 to 1)
    • Due to increased left sided pressures, can lead to increased pulmonary pressures
      • May be irreversible if not corrected
      • Can lead to right-to-left shunt if pressure is high enough
        • Eisenmenger syndrome (cyanosis)
      • Split S2 with prominent pulmonary component
      • Murmur may disappear as pulmonary pressure increases
    • Heart failure, poor feeding, failure to thrive, respiratory distress
    • Dynamic PMI with a thrill
    • Wide pulse pressures and bounding pulses

Diagnostic Studies

  • Transthoracic, doppler color flow echocardiography
    • The ductus is best viewed on the parasternal short-axis and suprasternal view

Management

  • Decisions are made on whether to actively close the PDA or monitor cardiac status
    • Term vs pre-term
      • Pre-term respond well to prostaglandin inhibitors
    • Size of the PDA
      • Moderate to large warrant closure
      • Small, audible PDA also benefit from closure to lower long term complications
        • Especially bacterial endocarditis
    • Degree of left-to-right shunt
    • Degree of left sided volume overload
    • Evidence of pulmonary hypertension
      • Closure not recommended in severe PAH
  • Closure Options
    • Medical/Pharmacologic Therapy
      • Prostaglandin inhibitors
        • Indomethacin, ibuprofen
          • Ibuprofen > indomethacin in term infants and older patients
    • Surgery
      • Posterolateral thoracotomy with direct PDA ligation
      • Video-Assisted Thoracoscopic Surgery (VATS) is less invasive option
        • Not indicated if PDA size > 9mm
      • Percutaneous closure using coils or commercial occlusion devices

Coarctation of the Aorta

Definition

  • Narrowing of the descending aorta at the insertion of the ductus arteriosus distal to the left subclavian artery

Epidemiology

  • 4-6% of all CHD
  • 4 cases per 10,000 live births
  • More common in males

Pathogenesis

  • Unknown, but two theories prevail:
    • Decreased intrauterine blood flow leading to under development of the fetal aortic arch
    • Migration/extension of ductal tissue into the wall of thoracic aorta
  • Genetic associations and increased familial risk
  • Usually accompanied with other CHD

Pathophysiology

  • As PDA and FO begin to close after birth, increased pressure over the narrowed aorta
    • Leads to left ventricular outflow tract obstruction
    • Increased collateral blood flow across the intercostals, internal mammary, and scapular vessels

Clinical Manifestations

  • Classic findings
    • Absent/delayed femoral pulses
    • Difference in upper extremity and lower extremity blood pressures
  • Neonates
    • Asymptomatic as long as there is a patent ductus
    • Murmurs of other CHD
  • Infants and Older Children
    • Complain of lower extremity claudication symptoms with exertion
    • Hypertension may be prominent
  • Adults
    • Hypertension is may sign
      • If severe, may lead to heart failure, aortic pathologies
    • Claudication can also be present

Diagnostic Studies

  • Chest radiography
    • Infants
      • Cardiomegaly with increased pulmonary vascular markings
    • Older children and adults
      • Rib notching from large collateral development
      • “3” sign from indentation of aortic wall at coarctation site
The red arrows point to rib notching caused by the dilated intercostal arteries. The yellow arrow points to the aortic knob, the blue arrow to the actual coarctation and the green arrow to the post-stenotic dilation of the descending aorta. Learning Radiology. 2020
  • Echocardiography
    • Transthoracic, doppler flow can visualize coarctation and evaluate for other defects
    • Ideal view is high parasternal long axis or suprasternal view
  • Cardiovascular MRI/CT
    • Recommended for adolescent and adult patients
  • Cardiac catheterization
    • Generally performed in conjunction with therapeutic interventions, or in adults with associated coronary disease

Management

  • Indications for inventions
    • Neonates with critical coarctation
      • Emergent medical therapy
        • Continuous infusion of prostaglandin E1
        • Inotropic support
        • Support care to correct metabolic derangements
    • Gradient > 20 mmHg
    • Radiologic evidence of clinically significant collateral flow
    • Hypertension or heart failure attributed to the defect
  • Types of Interventions
    • Balloon angioplasty (only)
      • Infants > 4 months and young children < 25kg
      • Preferred therapy for isolated coarctation
    • Stent Placement (after angioplasty)
      • Children > 25kg and adults
    • Surgical repair
      • Falling out of favor with increasing advancement and safety of transcatheter techniques



References

  1. Liu S, Joseph KS, Lisonkova S, et al. Association between maternal chronic conditions and congenital heart defects: a population-based cohort study. Circulation. 2013; 128(6):583-9. [pubmed]
  2. Jenkins KJ, Correa A, Feinstein JA, et al. Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007; 115(23):2995-3014. [pubmed]
  3. Øyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PK, Melbye M. Recurrence of congenital heart defects in families. Circulation. 2009; 120(4):295-301. [pubmed]
  4. Frank JE, Jacobe KM. Evaluation and management of heart murmurs in children. American family physician. 2011; 84(7):793-800. [pubmed]
  5. Kang G, Xiao J, Wang Y, et al. Prevalence and clinical significance of cardiac murmurs in schoolchildren. Archives of disease in childhood. 2015; 100(11):1028-31. [pubmed]
  6. McCrindle BW, Shaffer KM, Kan JS, Zahka KG, Rowe SA, Kidd L. Cardinal clinical signs in the differentiation of heart murmurs in children. Archives of pediatrics & adolescent medicine. 1996; 150(2):169-74. [pubmed]
  7. van der Linde D, Konings EE, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. Journal of the American College of Cardiology. 2011; 58(21):2241-7. [pubmed]
  8. Hoffman JI, Kaplan S. The incidence of congenital heart disease. Journal of the American College of Cardiology. 2002; 39(12):1890-900. [pubmed]
  9. Zhao QM, Niu C, Liu F, Wu L, Ma XJ, Huang GY. Spontaneous Closure Rates of Ventricular Septal Defects (6,750 Consecutive Neonates). The American journal of cardiology. 2019; 124(4):613-617. [pubmed]
  10. Zhang J, Ko JM, Guileyardo JM, Roberts WC. A review of spontaneous closure of ventricular septal defect. Proceedings (Baylor University. Medical Center). 2015; 28(4):516-20. [pubmed]
  11. Bol-Raap G, Weerheim J, Kappetein AP, Witsenburg M, Bogers AJ. Follow-up after surgical closure of congenital ventricular septal defect. European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery. 2003; 24(4):511-5. [pubmed]
  12. Butera G, Carminati M, Chessa M, et al. Transcatheter closure of perimembranous ventricular septal defects: early and long-term results. Journal of the American College of Cardiology. 2007; 50(12):1189-95. [pubmed]
  13. Hanslik A, Pospisil U, Salzer-Muhar U, Greber-Platzer S, Male C. Predictors of spontaneous closure of isolated secundum atrial septal defect in children: a longitudinal study. Pediatrics. 2006; 118(4):1560-5. [pubmed]
  14. Muta H, Akagi T, Egami K, et al. Incidence and clinical features of asymptomatic atrial septal defect in school children diagnosed by heart disease screening. Circulation journal : official journal of the Japanese Circulation Society. 2003; 67(2):112-5. [pubmed]
  15. Korenberg JR, Bradley C, Disteche CM. Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. American journal of human genetics. 1992; 50(2):294-302. [pubmed]
  16. Cetta F, Minich LL, Edwards WD, et al. Atrioventricular septal defects. In: Moss and Adams’ Heart Disease in Infants, Children, and Adolescents Including the Fetus and Young Adult, 7th ed, Allen HD, Shaddy RE, Driscoll DJ, Feltes TF (Eds), Lippincott Williams & Wilkins, Philadelphia 2007.
  17. Rastelli G, Kirklin JW, Titus JL. Anatomic observations on complete form of persistent common atrioventricular canal with special reference to atrioventricular valves. Mayo Clinic proceedings. 1966; 41(5):296-308. [pubmed]
  18. Backer CL, Stewart RD, Mavroudis C. What is the best technique for repair of complete atrioventricular canal? Seminars in thoracic and cardiovascular surgery. 2007; 19(3):249-57. [pubmed]
  19. Minich LL, Atz AM, Colan SD, et al. Partial and transitional atrioventricular septal defect outcomes. The Annals of thoracic surgery. 2010; 89(2):530-6. [pubmed]
  20. Hoffman JI, Kaplan S. The incidence of congenital heart disease. Journal of the American College of Cardiology. 2002; 39(12):1890-900. [pubmed]
  21. Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines on the management of adults with congenital heart disease). Circulation. 2008; 118(23):e714-833. [pubmed]
  22. Giroud JM, Jacobs JP. Evolution of strategies for management of the patent arterial duct. Cardiology in the young. 2007; 17 Suppl 2:68-74. [pubmed]
  23. Keane JF, Flyer DC. Coarctation of the aorta. In: Nadas’ Pediatric Cardiology, 2nd ed, Keane JF, Lock JE, Fyler DC (Eds), Saunders Elsevier, Philadelphia 2006.
  24. Beekman RH III. Coarctation of the Aorta. In: Moss and Adams’ Heart Disease in Infants, Children, and Adolescents, 6th ed, Allen HD, Driscoll DJ, Shaddy RE, Feltes TF (Eds), WK Lippincott Willams and Wilkins, Philadelphia 2008. Vol 2
  25. Silversides CK, Kiess M, Beauchesne L, et al. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan’s syndrome. The Canadian journal of cardiology. 2010; 26(3):e80-97. [pubmed]
  26. Baumgartner H, Bonhoeffer P, De Groot NM, et al. ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). European heart journal. 2010; 31(23):2915-57. [pubmed]

PAINE #PANCE Pearl – Pediatrics



Question

A 3yo girl is brought to your office by her parents for concern of asthma. They state that when she plays with her siblings, she often gets short of breath and needs to stop to rest for a few minutes. She is otherwise healthy and was born at 38 weeks gestation via cesarean section. She has had an uncomplicated past medical history and is up to date on all immunizations.

Physical examination reveals a well-nourished, well-developed girl, who is at 67% for height and 46% for weight for her age. Vital signs are BP-110/68, HR-87, RR-13, O2-100%, and temperature-98.7o. There is no evidence of cyanosis and auscultation findings are below.

  1. Describe what you hear.
  2. What condition is this most suggestive of?
  3. What is the management of this condition?

Ep-PAINE-nym



Janeway Lesions

Other Known Aliasesnone

Definitionnon-tender, small erythematous or hemorrhagic lesions on the palms of the hands or soles of the feet.

Clinical Significance these lesions are one of the classic, pathognomonic findings in infectious endocarditis. They are caused by septic emboli which deposit bacteria in the dermis of the skin causing microabscesses. In fact, cultures can be taken from these lesions.

HistoryNamed after Edward G. Janeway (1841-1911), who was an American pathologist and received his medical doctorate from the College of Physicians and Surgeons in New York in 1864. He had a prolific career practicing in and around New York city primarily at Bellevue Hospital and served as Health Commissioner of New York from 1875-1882. He went on to become one of the founders of the Association of American Physicians in 1886, as well as president of the Academy of Medicine in 1897 and 1898. A contemporary of Sir William Osler, Janeway was regarded as one of America’s premier internists of the late nineteeth and early twentieth century. He first noted his eponymous finding in 1899 as a “peculiar skin lesion”, but the eponym was first coined by Emanuel Libman in 1906 and later explained in a footnote in an article in 1923.


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. Prutkin JM, Fye WB. Edward G. Janeway, clinician and pathologist. Clinical cardiology. 2006; 29(8):376-7. [pubmed]
  7. Janeway EG. Certain Clinical Observations upon Heart Disease. The Medical News. New York. 1899;65(9):257-262
  8. Libman E. Johns Hopkins Medicine. 1906
  9. Libman E. Endocarditis. Journal of American Medical Association. 1923;80(12);813-817

#55 – Cardiomyopathies



***LISTEN TO THE PODCAST HERE***




Definitions

  • 1980 – WHO characterized cardiomyopathies as “heart muscle diseases of unknown causes”
    • Distinguish between non-cardiovascular pathologies (HTN, coronary disease, valvular disease)
  • 1995 – WHO and International Society and Federation of Cardiology (ISFC) developed a task force specifically looking at the definition and classifications of cardiomyopathies
    • Definition they developed was “disease of the myocardium associated with cardiac dysfunction”
      • Dilated cardiomyopathy (DCM)
      • Hypertrophic cardiomyopathy (HCM)
      • Restrictive cardiomyopathy (FCM)
      • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
      • Unclassified cardiomyopathy
  • 2006 – AHA released a statement to update to a more contemporary definition with two major categories
    • Primary cardiomyopathies (predominantly involving the heart)
      • Genetic
        • HCM, ARVC
      • Mixed
        • DCM, RCM
      • Acquired
        • Myocarditis, stress-induced, peripartum, tachy-induced
    • Secondary cardiomyopathies (other system involvement)
  • 2008 – European Society of Cardiology (ESC) updated the WHO/IFSC classification of cardiomyopathies as
    • “a disorder in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, HTN, valvular disease, and congenital heart disease”
      • Meant to more clinically useful
    • Further subcategorized into familial and non-familial causes, as well as removing CAD, vavlvular, congenital heart disease, and ion channelopathies as causes

Echographic Evaluation

  • Systolic
    • Decrease in myocardial contractility resulting in a decrease in left ventricular ejection fraction
      • To compensate, cardiac output is maintained by LV enlargement (increase stroke volume)
    • As a result, systolic dysfunction is most commonly characterized by a dilated cardiomyopathy
  • Diastolic
    • Dysfunction in LV relaxation resulting in abnormal filling and elevated filling pressures
      • Mostly affected by compliance and distensibility of the myocardium
    • As a result, diastolic dysfunction is most commonly characterized by restrictive cardiomyopathy

Current Classifications

Dilated

  • Definition
    • Dilation and impaired contraction of one or both ventricles resulting in an increase in total cardiac mass
  • Numbers
    • Incidence – 5-8 cases per 100,000 population
    • Prevalence – 36 per 100,000
    • STRONG HEART Study (20021) – Up to 14% of middle-aged and elderly may have asymptomatic LV dysfunction
  • Causes
  • Signs and Symptoms
    • Progressive dyspnea on exertion
    • Impaired exercise capacity
    • Orthopnea
    • Paroxysmal nocturnal dyspnea
    • Peripheral edema
    • Cardiomegaly
      • Radiographic
        • > 50% cardiothoracic ratio
      • Clinical
        • Displaced PMI
        • S3 with gallop
  • Classic Echocardiographic Findings
    • Left ventricular cavitary spherical dilation
    • Normal to decreased wall thickness
    • Reduced inward systolic motion
    • Left > Right atrial enlargement and dysfunction

Hypertrophic

  • Definition
    • Increased Left > Right ventricular wall thickness in the absence of pathologic causing conditions
  • Numbers
    • Prevalence – 1:500 of the adult population
  • Causes
    • Primarily genetic
      • Autosomal dominant with incomplete penetrance
      • 60-70% of patients have mutations in the beta myosin heavy chain and cardiac myosin-binding protein C genes
  • Signs and Symptoms
    • Atypical angina (25-30%)
    • Presyncope and syncope during or immediately after exertion (15-20%)
      • More common in patients < 30yo
    • Palpitations
    • Dyspnea on exertion
    • Fatigue
    • Clinical
      • LVOT obstruction
        • S4
        • Harsh crescendo-decrescendo systolic murmur after S1 best heard at apex and lower left sternal border
          • Accentuated by squatting and standing quickly
          • Diminished by standing and squatting quickly or with handgrip
        • Mitral regurgitation murmur
  • Classic Echocardiographic Findings
    • LV wall thickness > 15mm
    • LV outflow obstruction > 30mmHg
    • Asymmetric septal hypertrophy
    • Systolic anterior motion of the mitral valve (SAM)

Restrictive

  • Definition
    • Non-dilated, nonhypertrophied ventricles with moderate to marked biatrial enlargement
  • Numbers
    • ~5% of all cases of cardiomyopathies
  • Causes
    • Infiltrative
      • Amyloidosis, sarcoidosis
    • Non-infiltrative
      • Diabetic, scleroderma
    • Storage Disease
      • Hemochromatosis, Fabry, Gaucher
    • Endomyocardial
      • Cancer/Cancer therapy, pharmacologic
  • Signs and Symptoms
    • Dyspnea
    • Peripheral edema
    • Palpitations
    • Fatigue
    • Weakness
    • Exercise intolerance
    • Clinical
      • Elevated JVP with a prominent y descent
      • S3
      • Hepatosplenomegaly and ascites
  • Classic Echocardiographic Findings
    • Difficult and often requires doppler interrogation
      • Elevated peak mitral inflow velocity
      • Rapid early mitral inflow deceleration
      • Reduced annular velocity
    • Normal to low diastolic volume
    • Normal to low reduced LVEF
    • Atrial enlargement

The Cottage Physician (1893)



References

  1. Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. British heart journal. 1980; 44(6):672-3. [pubmed]
  2. Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation. 1996; 93(5):841-2. [pubmed]
  3. Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006; 113(14):1807-16. [pubmed]
  4. Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. European heart journal. 2008; 29(2):270-6. [pubmed]
  5. Dec GW, Fuster V. Idiopathic dilated cardiomyopathy. The New England journal of medicine. 1994; 331(23):1564-75. [pubmed]
  6. Devereux RB, Roman MJ, Paranicas M, et al. A population-based assessment of left ventricular systolic dysfunction in middle-aged and older adults: the Strong Heart Study. American heart journal. 2001; 141(3):439-46. [pubmed]
  7. Felker GM, Thompson RE, Hare JM, et al. Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy. The New England journal of medicine. 2000; 342(15):1077-84. [pubmed]
  8. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. 1995; 92(4):785-9. [pubmed]
  9. Maron BJ. Clinical Course and Management of Hypertrophic Cardiomyopathy. The New England journal of medicine. 2018; 379(7):655-668. [pubmed]
  10. Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003; 107(17):2227-32. [pubmed]
  11. Nienaber CA, Hiller S, Spielmann RP, Geiger M, Kuck KH. Syncope in hypertrophic cardiomyopathy: multivariate analysis of prognostic determinants. Journal of the American College of Cardiology. 1990; 15(5):948-55. [pubmed]
  12. Muchtar E, Blauwet LA, Gertz MA. Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circulation research. 2017; 121(7):819-837. [pubmed]
  13. Ammash NM, Seward JB, Bailey KR, Edwards WD, Tajik AJ. Clinical profile and outcome of idiopathic restrictive cardiomyopathy. Circulation. 2000; 101(21):2490-6. [pubmed]
  14. Kushwaha SS, Fallon JT, Fuster V. Restrictive cardiomyopathy. The New England journal of medicine. 1997; 336(4):267-76. [pubmed]

PAINE #PANCE Pearl – Cardiology



Question

A 5yo boy is brought to you clinic by his parents for reporting that his legs hurt “when he plays too much”. His parents corroborate this saying that when he is climbing on the playground for too long he complains that his legs hurt and he needs to stop and rest for awhile. Vaccinations are UTD and he has had a relatively healthy childhood without significant illnesses. He has no significant past medical history and mother reports that she was 38 weeks when he was born via NSVD without any complications. Cardiac auscultation reveals a normal S1 and S2 without murmurs, gallops, or rubs.

  1. What would you expect to find on physical examination?
  2. What other physical assessment can you perform at the bedside to help with the diagnosis?
  3. What findings on diagnostics would also help with the diagnosis?

Answer

The above scenario suggests coarctation of the aorta. The classic physical exam findings are hypertension in the upper extremities, delayed or dminished femoral pulses, and low or unobtainable blood pressures in the lower extremities. Thus, in patients you suspect coarctation of the aorta your should perform a supine bilateral brachial artery blood pressures and prone, supine popliteal blood pressure. In older children and adults, you may see rib notching on chest radiographs from development of large collateral arteries, as well as an indentation of the aortic wall at the site of the coarctation producing the class “3” sign.

Up-to-Date. 2020

Ep-PAINE-nym



Prinzmetal angina

Other Known Aliasesvariant angina

Definitionchest pain that occurs in the absence of exertion, often at rest and sometimes waking the patient up from sleep.

Clinical Significance this type of angina classically is caused by vasospasm of the coronary vessels with or without superimposed antherosclerosis.

HistoryNamed after Myron Prinzmetal (1908-1987), who was an American cardiologist and received his medical doctorate from UCSF School of Medicine in 1933. His career focused mainly on hypertension and heart dysrhythmias with over 160 publications to his name. He published the article describing his eponymous disease in 1959 entitled “Angina pectoris I: A variant form of angina pectoris”.


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. PRINZMETAL M, KENNAMER R, MERLISS R, WADA T, BOR N. Angina pectoris. I. A variant form of angina pectoris; preliminary report. The American journal of medicine. 1959; 27:375-88. [pubmed]

PAINE #PANCE Pearl – Cardiology



Question

A 5yo boy is brought to you clinic by his parents for reporting that his legs hurt “when he plays too much”. His parents corroborate this saying that when he is climbing on the playground for too long he complains that his legs hurt and he needs to stop and rest for awhile. Vaccinations are UTD and he has had a relatively healthy childhood without significant illnesses. He has no significant past medical history and mother reports that she was 38 weeks when he was born via NSVD without any complications. Cardiac auscultation reveals a normal S1 and S2 without murmurs, gallops, or rubs.

  1. What would you expect to find on physical examination?
  2. What other physical assessment can you perform at the bedside to help with the diagnosis?
  3. What findings on diagnostics would also help with the diagnosis?

Ep-PAINE-nym



Takotsubo Cardiomyopathy

Other Known AliasesBroken-Heart Syndrome

Definitionstress-induced cardiomyopathy

Clinical Significance this syndrome is characterized by transient regional systolic dysfunction of the left ventricle, that mimics a myocardial infarction, but with an absence of angiographic evidence of coronary artery involvement.

HistoryNamed after Japanese word for “octopus trap” as the left ventricle takes the shape of this unique hunting vessel. This condition was first studied in Japan by Hikaru Sato in 1991, but it was not “introduced” to the western medical world until 1997.


References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. Tofield A. Hikaru Sato and Takotsubo cardiomyopathy. European Heart Journal, Volume 37, Issue 37, 1 October 2016, Page 2812
  7. Pavin D, Breton HL, Daubert C. Human stress cardiomyopathy mimicking acute myocardial syndrome. Heart. 1997;78:509-511.

PAINE #PANCE Pearl – Cardiology



Question

73yo man, with a history of hypertension and coronary disease, is brought into the emergency room after a witnessed syncopal episode at home. He reported some mild exertional chest pain over the past few days, but states that it improved with rest. Vital signs are BP-180/98, HR-74, RR-12, and O2-100%. He is currently in no distress and not diaphoretic. Physical examination revealed a systolic murmur over the 2nd right intercostal space. A CT was ordered to rule-out PTE in the setting of chest pain and syncope and is below, along with the murmur.

  1. What is the diagnosis?
  2. How would you describe this murmur?
  3. Where would you expect this murmur to radiate?
  4. What is the classic triad associated with this condition?

Answer

  1. Aortic Stenosis due to a calcified aortic valve
  2. High-pitched, crescendo-decrescendo (diamond shaped), midsystolic, ejection murmur with a soft S2
  3. AS murmurs transmit well and equally to the carotid arteries
  4. The classic triad of AS is exertional angina, exertional dyspnea, and dizziness/syncope