Age: 56 years
Gender: Female
Personal information: Grandmother
Working diagnosis: Unexplained shortness of breath for several months
HISTORY
The patient had been well all her life. She had given birth to two daughters without any difficulties and more recently had been looking after her two young grandchildren. She had never been hospitalized nor had she required an operation. She was postmenopausal.
During a recent checkup with her general practitioner a murmur was heard. On questioning she admitted to feeling more short of breath with exertion. The patient was subsequently referred for further evaluation.
She had no other risk factors for coronary artery disease. There was no family history of congenital or acquired heart disease.
She does not smoke.
Comments: Although the differential diagnosis for a 56-year-old woman with exertional dyspnea is extremely long, it is not uncommon for a congenital heart defect to present for the first time in the fifth or sixth decade of life. ASDs would be by far the most common among them.
PHYSICAL EXAMINATION
BP 124/76 mm Hg, HR 60 bpm, oxygen saturation 100% on room air
Height 160 cm, weight 65 kg, BSA 1.7 m 2
Neck veins: Venous waveform was normal and not elevated.
Lungs/chest: Clear
Heart: The rhythm was regular. There was no left parasternal heave on palpation. The pulmonary component of the second heart sound was delayed, but was neither loud nor fixed. There was a soft systolic ejection murmur at the upper left sternal border.
Abdomen: The abdomen was normal with no ascites or organomegaly.
Extremities: The extremities were not edematous.
PERTINENT NEGATIVES
No clubbing was seen.
Comments: This patient has no obvious clinical signs to suggest right ventricular hypertrophy or dilatation. Patients with an ASD often have fixed splitting of the second heart sound, but its absence does not rule out an ASD, such as a sinus venosus ASD. The absence of a loud pulmonary component of the second heart sound makes pulmonary hypertension unlikely. A soft systolic ejection murmur is very common due to increased pulmonary blood flow in such patients.
LABORATORY DATA
| Hemoglobin | 14 g/dL (11.5–15.0) |
| Hematocrit/PCV | 41% (36–46) |
| MCV | 90 fL (83–99) |
| Platelet count | 191 × 10 9 /L (150–400) |
| Sodium | 138 mmol/L (134–145) |
| Potassium | 4.0 mmol/L (3.5–5.2) |
| Creatinine | 0.61 mg/dL (0.6–1.2) |
| Blood urea nitrogen | 5.3 mmol/L (2.5–6.5) |
Comments: No abnormalities were seen. Her breathlessness could not be explained by anemia.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 64 bpm
QRS axis: +107°
QRS duration: 84 msec
Sinus rhythm with normal AV conduction. There was an inverted P-wave in lead III and a prominent R in leads V1–2.
Comments: The rightward axis and the R in V1 suggest possible enlargement of the RV, although criteria for RV hypertrophy were not present. This should prompt consideration for an ASD.
The presence of a negative P-wave in lead III as seen in this patient is a typical feature of a sinus venosus ASD. The P-wave vector is approximately −20 degrees, so the term coronary sinus or low atrial rhythm would be appropriate. The sinus node may also be affected as it lies in the vicinity of the defect or adjacent to the site of an anomalous pulmonary venous connection.
CHEST X-RAY
FINDINGS
Cardiothoracic ratio: 60%
There is mild cardiomegaly with mild RA dilatation. The central pulmonary arteries are dilated with increased pulmonary vascular markings.
Comments: The CXR findings here combined with the subtle ECG findings are suspicious for right heart enlargement (lateral CXRs are not routinely done at our hospital). Further imaging should focus on a potential source of a left-to-right shunt.
ECHOCARDIOGRAM
OVERALL FINDINGS
The LV was normal in size and function with a competent mitral valve.
The RV was moderately dilated.
The tricuspid valve was competent. The RA and LA were moderately dilated.
FINDINGS
RV dilatation is seen. The LV and LA were normal.
Comments: The RV finding should prompt the sonographer to search extensively for evidence of a left-to-right shunt, most likely across an ASD, and/or for the presence of anomalous pulmonary veins.
FINDINGS
Both the RA and RV were moderately dilated. In addition, there was a 15-mm sinus venosus ASD with a left-to-right shunt.
Comments: This shows again the moderately dilated and volume overloaded RV. The cause is a left-to-right shunt through a defect high on the atrial septum (at the bottom of this image).
Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
