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PP-080 Diagnostic challenges in a case of apnea with cyanosis in an infant with down syndrome
  1. Elena Adriana Popa1,
  2. Eugenia Buzoianu2,
  3. Ioana Adriana Ghiorghiu2,
  4. Doina Anca Pleşca2
  1. 1Children’s Clinical Hospital ‘Dr. Victor Gomoiu’, Bucharest
  2. 2University of Medicine and Pharmacy ‘Carol Davila’, Bucharest


Aim Down Syndrome (trisomy 21) is the most common genetic condition based on a numerical abnormality (an extra chromosome to the 21st pair of autosome chromosomes), with an incidence of 1 case/660 births. Besides the characteristic physiognomy (generalized hypotonia, tongue protrusion, mental retardation, microcephaly, epicanthal fold, flattened nose and face, low-set ears, single transverse palmar crease), patients with Down Syndrome may also present a series of life-threatening abnormalities, the most significant being congenital heart defects (atrioventricular canal or Tetralogy of Fallot).

Material and Method A male infant, aged 3 months old, diagnosed since birth with Down Syndrome, atrial and ventricular septal defect, presents at the hospital with cough, dyspnea, nasal obstruction and runny nose. At the time of admission, he had unwell appearance, moderate respiratory distress, spastic cough, SaO2 = 96%, disseminated fine crackles, normal heart rate, systolic murmur grade III/VI. (Figure 1 – Cardiopulmonary radiography). Broad-spectrum antibiotic therapy, inhaled short acting bronchodilator and anti-inflammatory therapy have been initiated. During hospitalization the patient presented several episodes of apnea accompanied by cyanosis with a decrease in SaO2 up to 61%, despite the sustained improvement of the respiratory disease (based on clinical exam between apnea episodes and radiological assay).

Results Therefore, the cardiologist performed a second evaluation including echocardiography and Angio-CT. Severe pulmonary hypertension and acute heart failure class III NYHA emerged as diagnosis. A background treatment with furosemide, spironolactone, enalapril and sildenafil is initiated, followed by a favorable outcome (remission of cyanotic apnea episodes).

Abstract PP-080 Figure 1

Cardiopulmonary radiography.

Conclusions He severity of heart disease is the most prominent prognosis factor for life expectancy in patients with Down Syndrome. Therefore, proper cardiological evaluation and appropriate treatment are essential.

  • Down syndrome
  • heart failure
  • pulmonary hypertension

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