Abstract
Thirty-one year-old male had been complainting of nocturnal dyspnea for one week before admission to our hospital. He smoked thirty cigarettes a day for 11 years and consumed no alcohol. His father died from myocardial infarction at the age of 56, and two of his father's sisters died of heart disease. One of his two children has VSD.
Physical examinations on admission revealed that the pulse rate was 100beats/min. and regular, and that the blood pressure was 132/88mmHg. Moist rales and galloping rhythms were heard. No murmurs were heard. The liver and spleen were not palpable. No peripheral edema, nor cyanosis were noted, and no xanthom was noticed.
The cholesterol and triglyceride levels in serum were 380mg/dl and 149mg/dl, respectively. Abnormal thickness of the Achilles tendons was also demonstrated on an X-ray image. An X-ray image of the chest revealed a butterfly shadow associated with massive consolidation at the right lower lobes. On an electrocardiogram, abnormal q wave in leads I, II, aVL, V4-6 and inverted T wave in leads I, aVL, V5 and V6 were seen.
An echocardiogram showed extensive hypokinesis at the LV wall, LV dilatation and 0.39 of ejection fraction. A 201Tl scintigram revealed perfusion defects in the apex and lateral wall. The findings of a coronary angiogram showed that there was 90% stenosis in segment 6, total occlusion in segment 7, 99% stenosis in segment 12, and coronary aneurysm in segments 2 and 3. There was good development of collateral flow from the right coronary artery to the left anterior descending coronary artery. The left ventriculogram revealed akinesis in segments 2, 3, 4 and 7, and hypokinesis in segments 1, 5 and 6. He was diagnosed to have familial hypercholesterolemia associated with coronary aneurysm and subsequently to have myocardial infarction. He is now well and the cholesterol level in his serum is being controlled well by LDL apheresis (1/2 weeks) and Probucol (500mg/day, b. i. d.).
It is suggested from this case that one should consider the possibility that myocardial infarction in juveniles may be complicated by familial hypercholesterolemia.
