congenital heart disease in trisomy 21

7/28/2019 Congenital Heart Disease in Trisomy 21

1/20

Morning Report

Carrie Johnson

PGY-2


2/20

HPI

20 month old male with Trisomy 21, history of

RAD

3 days of increasing cough and wheezing

1 day of fever to 103 on day of presentation

Albuterol neb at home without relief

Normal level of activity with typical intakeand normal number of wet diapers.


3/20

HPI continued

Brought to OSH, respiratory rate in 80s,

oxygen sat mid 70s

Given albuterol neb, placed on oxygen via face

mask without significant improvement

Continued tachypnea and hypoxia

Patient was sedated and intubated Labs obtained, Rocephin 500 mg IV given,

transferred to PCMC via life flight


4/20

PMH:

Uncomplicated 37 week gestation, delivered via

repeat C-section.

Diagnosed with Trisomy 21 at birth. Discharged

home from hospital with mother.

Diagnosed with RAD at 8 months age. Uses albuterolprn (once every few weeks), Pulmicort as daily

controller.

Two previous admissions for respiratory distress

with respiratory viruses, no history of intubation.

No history of hypothyroidism (state newborn

screen). No previous Echocardiogram.


5/20

SH: PE tubes x2

FH: no history of Trisomy 21

Social: Lives with mother, father, 3 siblings. No

smoke exposure.

Medications: Pulmicort BID, Albuterol prn

Allergies: Amoxicillin (rash)

Imm: UTD, received seasonal flu

No recent travel.


6/20

Physical Exam

T 37.4 HR 168 RR 20 BP 131/86 Sa02 96% on

SIMV PS Fi02 100% Wt 10kg

Gen: Intubated, sedated but eyes open, not

tracking. Typical Trisomy 21 facies

HEENT: pinpoint pupils, no conjunctival injection,

low set ears, TMs not visible 2/2 small canals, no

nasal discharge, dry cracked lips, no LAD CV: tachycardic, dynamic precordium on

palpation, normal S1, loud S2, no murmurs


7/20

Physical Exam Continued

Lungs: diffuse coarse breath sound with

wheezing, prolonged expiratory phase, mild

supraclavicular retraction

Abd: soft, NT/ND. Liver 2.5 cm below right

costal margin

Extrem: no clubbing, cyanosis, or edema

Neuro: mild diffuse hypotonia, DTRs 1+ in all

extremities, normal muscle bulk


8/20

Assessment

20 month old boy with Trisomy 21 presenting

with one day of fever, 3 days of increased

cough and wheezing leading to respiratory

distress requiring intubation.


9/20

Differential Diagnosis

CV: CHD (VSD, ASD, AV Canal defects), Cor Pulmonale

ID: sepsis, distributive shock, viral pneumonia(Parainfluenza, Rhinovirus, Human metapneumovirus,influenza, RSV), bacterial pneumonia (Streptococcus

pneumoniae, Haemophilus influenzae, Chlamydiatrachomatis, Mycoplasma pneumoniae, Legionellapneumophila), empyema

Resp: Pulmonary HTN, RAD/asthma, Pulmonaryhemorrhage, foreign body aspiration with pneumonitis

Onc: ALL, pulmonary neuroblastoma

Immuno: X-linked agammaglobulinemia (Brutons),Common Variable Immune Deficiency


10/20

Labs

CBG (100% Fi02) 7.30/43/79/20/-4.9

BMP:

Na 138, K 5.5, Cl 107, HC03 22, Gluc 134, BUN 35, Cr

0.45, Ca 8.8, AG 9

CBC with Diff

WBC 18.4, Hgb 13.1, Hct 39, Plts 333

Bands 17%, Neut 72%, Lymph 5%

VRP: Rhinovirus positive

Blood culture and Protected Brush negative


11/20

Imaging

CXR obtained at OSH significant for

hyperinflation and bilateral airspace

consolidation.

PCMC CXR: stable cardiac enlargement.

Increasing patchy airspace opacities bilaterally.


12/20

EKG

Right atrial enlargement

Right axis deviation

Right Ventricular hypertrophy with strainpattern


13/20

Imaging

Echocardiogram

Moderate secundum ASD with left to right

shunting

Ventricular septum motion flattened throughout

cardiac cycle

Dilated right atrium; right ventricle dilated with

hypertrophy Poor right ventricular systolic function with

elevated end diastolic pressure.


14/20

Diagnoses

Acute right heart failure secondary to likely

long-standing pulmonary hypertension,

pulmonary over-circulation from undiagnosed

ASD, acute rhinovirus bronchiolitis, and

possible bacterial pneumonia


15/20

CHD in Trisomy 21

Nearly half of all Trisomy 21 patients havecongenital heart disease

For children with CHD and Trisomy 21:

Complete atrioventricular septal defect (CAVSD) 37% Ventricular septal defect (VSD) 31%

Atrial septal defect (ASD) 15%

Partial atrioventricular septal defect (PAVSD) 6%

Tetralogy of Fallot (TOF) 5%

Patent ductus arteriosus (PDA) 4%

Miscellaneous 2%

Irving CA, Chaudhari MP. Cardiovascular abnormalities in Down's syndrome:

spectrum, management and survival over 22 years. Arch Dis Child.

2012;97(4):326.


16/20


17/20

Health Supervision for Children With Down Syndrome.

Bull M J , and the Committee on Genetics Pediatrics

2011;128:393-406

2011 by American Academy of Pediatrics


18/20

Supervision in the first month

Echocardiogram CBC to rule out transient myeloproliferative

disorder, polycythemia

TSH (may be part of newborn screen) Ophthalmology to rule out cataracts

Discuss risk of respiratory infectionDiscuss increased susceptibility to respiratory tract infections.

Children with signs/symptoms of lower respiratory tract

infection should be evaluated acutely by a medical provider,

and in the presence of cardiac or chronic respiratory disease,

aggressive treatment should be instituted.

Bull M J , and the Committee on GeneticsPediatrics 2011;128:393-406


19/20

1 month to 1 year

If hearing screen passed at birth, rescreen at

6 months for confirmation

Repeat TSH at 6 and 12 months, then annually

Ophthalmology to rule out cataracts,

strabismus, nystagmus

Reassure parents that dental eruption may be

delayed, irregular

Assess for OSA


20/20

1-5 years of age Annual TSH, Ophthalmology evaluation

Every 6 months: Behavioralaudiogram/tympanometry until bilateral earspecific testing possible (even with previouslynormal results)

Sleep study at age 4 Screen for Celiacs Disease on history, labs prn

PT, OT, speech therapy referral; IEP for preschool

If chronic cardiac/pulm disease, 23 valent

pneumococcal vaccine age >2 Annual hemoglobin

CRP and ferritin if possible iron deficiency or Hgb

congenital heart disease in trisomy 21

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