Case 6/2016 - The Patient is a 29-Year-Old Male with Spontaneous Closure of Ventricular Septal Defect in Adulthood

Clinical findings: The routine examination of an asymptomatic 10-day-old male patient with Down syndrome revealed a holosystolic and mild (+ to ++ of intensity) heart murmur characteristic of low ventricular septal defect, auscultated along the left sternal margin with radiation to the right sternal margin, and normal heart sounds. In addition, there were mild thrusts in the left sternal margin, mild enlargement of the liver and mild dyspnea, requiring the use of diuretics and digoxin up to the age of 18 months. Because of the mild repercussion of the defect, routine clinical follow-up was maintained, yielding systematically similar findings on physical examination. The echocardiogram always showed the subaortic perimembranous defect, ranging from 3 to 5 mm. The electrocardiogram (ECG) was within the normal range, but the chest radiography showed mild cardiac area enlargement. Good clinical course persisted with normal life, including regular physical activity, until the last recent routine medical reassessment, which no longer revealed the heart murmur. The heart murmur might have disappeared in the time interval between the assessment at the age of 18 years, when the heart murmur was still auscultated, and the last medical assessment at the age of 29 years. The patient works in the filing sector of a private company, where he is well accepted by his peers. right upper limb blood pressure: 100/70 mmHg, heart rate: 60 bpm. The aorta was not palpated in the suprasternal notch. The inspection of the precordium showed neither palpable ictus cordis nor systolic pulsations. The heart sounds were normal and no heart murmur was auscultated. The liver was not palpable and the lungs were clean. Electrocardiogram: Showed sinus rhythm, no chamber overload and no changes in ventricular repolarization. AP= +40 o , AQRS= +60 o , AT= +30 o (Figure 1). The ECGs performed before the closure of the defect were normal, in accordance with the corresponding ages. Chest radiography: Showed heart area within the normal range (cardiothoracic index = 0.50) at the age of 13 years, prior to closure of the defect (Figure 1). Echocardiogram: Revealed heart chambers of normal size, normal biventricular function and no valvar abnormalities before and after spontaneous closure of the defect, which was located in the perimembranous region and had fibrous borders (Figure 2). Clinical diagnosis: Small ventricular septal defect of mild repercussion, with spontaneous closure in adulthood and normalization of the clinical parameters. Clinical rationale: The clinical findings during follow-up …