Age: 40 years
Gender: Female
Occupation: Housewife
Working diagnosis: Atrial septal defect with cyanosis
HISTORY
Born small for gestational age (1800 g), the patient was noted to be cyanotic on crying since infancy. Frequent colds and chest infections required treatment, but no cardiac diagnosis was made.
During her elementary school and junior high school life, the patient felt short of breath playing sports, yet recovered readily with rest and hence did not seek medical attention. She began to note clubbing in her teenage years.
At the age of 25 years, a heart murmur and cyanosis were noted when she visited her general practitioner for a common cold. A hole within the heart was suspected, but not pulmonary hypertension. No recommendations were made.
At the age of 34 years, an ASD was diagnosed when she visited another doctor for her pregnancy and delivery. She gave birth to a female baby weighing 1358 g by cesarean section for intrauterine growth retardation (32 weeks’ gestation). After this pregnancy, further detailed examinations were recommended, but the patient did not follow this recommendation.
At age 39 years, after contracting a common cold, her dyspnea became more noted and limiting. Eventually, she was referred for a more precise diagnosis and possible treatment. Diuretics were prescribed.
Soon thereafter the patient had a transient ischemic attack probably caused by paradoxical embolism. There was no suspicion of arrhythmia. Warfarin was started.
Comments: Clubbing of fingers appearing as a teenager indicates that she has had moderate or severe cyanosis almost since birth. The fact that she had been able to do sports in her school life suggests that systemic output had been reasonably maintained even in the presence of cyanosis.
The risk of pregnancy is not low in the setting of cyanotic cardiac malformations. Fetal growth retardation can be associated with the maternal cyanotic circulation, and poor fetal outcome is particularly common when resting oxygen saturations are below 85%.
Paradoxical embolism can occur when a right-to-left shunt is present, particularly at the atrial level. This complication can occur even in patients with a small atrial communication such as a PFO. Anticoagulation may reduce the risk, although the evidence is not strong. Current practice would be elective closure of the atrial communication if large.
PHYSICAL EXAMINATION
BP 100/70 mm Hg, HR 75 bpm and regular, oxygen saturation 61%
Height 151 cm, weight 40.5 kg, BSA 1.30 m 2
Surgical scars: A cesarean section scar was present in the lower abdomen
General: Thin woman, with severe cyanosis noted on her lips and cheeks
Neck: JVP was normal.
Lungs/chest: Breath sounds were normal with no rales or crackles
Heart: Regular rate and rhythm, with a grade 2/6 systolic murmur heard at the left sternal border, a single second heart sound of normal intensity, with no gallops
Abdomen: The abdomen was flat and soft. The liver and spleen were not enlarged.
Extremities: Clubbed fingers and toes were noted, with no edema.
Comments: In the absence of a loud second sound, pulmonary hypertension is unlikely.
LABORATORY DATA
| Hemoglobin | 18.9 g/dL (11.5–15.0) |
| Hematocrit/PCV | 61.4% (36–46) |
| MCV | 88.0 fL (83–99) |
| Platelet count | 211 × 10 9 /L (150–400) |
| Sodium | 142 mmol/L (134–145) |
| Potassium | 4.4 mmol/L (3.5–5.2) |
| Creatinine | 0.6 mg/dL (0.5–1.0) |
| Blood urea nitrogen | 20 mg/dL (6–24) |
| Uric acid | 9.0 mg/dL (2.7–6.3) |
| AST | 28 U/L (0–40) |
| ALT | 30 U/L (0–35) |
| T Bil | 2.0 mg/dL (0.2–1.2) |
| Hb A1c | 5.3% (4.3–5.8) |
| FBS | 77 mg/dL (65–110) |
| Arterial gases: | |
| P o 2 | 37 mm Hg |
| P co 2 | 35 mm Hg |
OTHER RELEVANT LAB RESULTS
Lung function tests revealed normal vital capacity and normal spirometry.
Comments: The secondary erythrocytosis is related to the patient’s chronic cyanosis.
Uric acid is often elevated in patients with cyanosis; similarly, gout is not uncommon in such patients.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 75 bpm
QRS axis: +30°
QRS duration: 90 msec
Regular sinus rhythm with first-degree aortic valve block and frequent premature beats
Tall and especially peaked P-waves noted in V1–3, suggesting RA overload. P-waves are also broad and notched, perhaps reflecting LA overload. Nonspecific, precordial T-wave inversion over the RV leads.
Comments: This ECG could be suggestive of right heart disease. The absence of a major right axis shift argues against RV pressure overload.
CHEST X-RAY
FINDINGS
Cardiothoracic ratio: 55%
Situs solitus, with mild cardiomegaly, normal pulmonary vascular markings, and normal lung fields.
FINDINGS
Normal chest.
Comments: Lateral film shows some retrosternal filling, implying possible enlargement of the RV.
PHYSIOLOGIC TRACINGS
FINDINGS
Normal LV was seen with normal function. A moderately large secundum ASD was present with a diameter of 20 mm. Bidirectional shunting was seen, but mainly right-to-left shunting across the defect.
The RV diastolic dimension was normal at 31 mm. All valves appeared normal, and in the presence of trace tricuspid valve regurgitation, all valves functioned normally. The IVC was 9 mm in diameter but did not collapse with inspiration. The tricuspid regurgitation velocity did not suggest an elevated RV systolic pressure.
DOPPLER SUMMARY
The figure shows (from top to bottom) pulmonary artery (PA) flow, RV inflow, ASD velocity, as well as phonocardiogram and ECG tracing.
The PA tracing shows forward systolic flow, and diastolic flow reversal consistent with regurgitation. The ASD flow curve shows left-to-right shunt during early diastole, then right-to-left shunt, and finally left-to-right shunt again at the end of diastole after the P-wave.
Comments: Although the RV had normal systolic function, it appeared small for the moderately sized ASD that would be expected to normally cause RV dilation from predominantly left-to-right shunting. The IVC diameter was also rather small. The constellation of findings suggests that the RV was actually hypoplastic, and abnormal diastolic function of the RV was responsible for right-to-left shunt through the ASD in mid diastole. Mild pulmonary regurgiation also contributed to early filling of the RV and hence right-to-left shunt.
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