CASE HISTORY

This man was first admitted in October 1953, aged 19, for a left spontaneous pneumothoraz. He was noted to have a high, arched palate and arachnodactyly, and his blood pressure was 115/70 Hg. No cardiac murmurs were heard, and all his pulses were normal. There was no evidence of any cardiovascular disease but assymmetry of the chest, due to a dorsal kyphoscoliosis, and a marked lumber kyphos were noted. An Xray of the chest confirmed the left pneumothorax. There was a little fluid in the left pleural cavity, and slight mediastinal shift to the right, but no abnormality of the right lung or of the heart. After two weeks bed rest there was considerable, but incomplete re-expansion of the lung. In January 1956 he developed a cough, loss of weight and haemoptysis due to pulmonary tuberculosis. He was treated with antibiotics at a sanatorium for nine months. From October 1956 to January 1957 he was followed at the hospital’s chest clinic. By January 1957 the heart had increased in size and a loud early diastolic murm was audible in the aortic area and down the left sternal border. In the cardiovascular system the jugular venous pressure was normal and the arterial pulse of large volume, with a sharp upstroke and well-marked dicrotic notch. The blood pressure was 140/90 mm Hg. and the timing of all the pulses were normal and their character similar. The cardiac impulse was of left ventricular type, with a hyperdynamic localised thrust, 11cm from the midline. There was a sternal 'ift due to right ventricular hypertrophy. A grade III long, early, high pitched diastolic murmur, maxial at the aortic area, but also down the left sternal edge, was heard. The second heart sound was normal. An early systolic click was audible in the aortic area, but no systolic or mid-diastolic murmurs were heard. The lungs were normal and tehre was no clubbing of the fingers, splinter haemorrhages or splenomagaly. He remained afebrile, and penicillin was given for the boil on the skin, after infective endocarditis had been excluded.  The diagnosis was now Marfan's syndrome with medial necrosis, leading to gross dilation of the aorta and stretching of the aortic valve ring, with aortic incompetence. Further investigation was not thought desirable and the patient was discharged for observation in the out patients department. He remained well until December, when he developed a sudden, sharp, upper abdominal pain, diarrhoea and vomiting. This lasted intermittently for two weeks and was followed by progressive dyspnoea on exertion, cough and sputum. In January 1960 he was orthopnoeic, with signs of severe congestive heart failure and minimal jaundice. The jugular venous pressure was elevated to the lobes of the ears, with marked systolic pulsation and sharp "Y" descent, indicating tricuspid incompetence. The heart was very large with an enormous, hyperdynamic, left ventricle and there was sternal pulsation due to the aortic dilation and right ventricular enlargement. The arterial pulse was regular and "waterhammer" in type. The blood pressure was 130/50 mm Hg.  All the pulses were normal in timing. There was a fourth heart sound, but no pericardial friction. The murmurs were unchanged. The liver was enlarged and tender, and there was ascites with slight oedema of the legs. No abnormal neurological signs were detected. There were no splinter haemorrhages and no enlargement of the spleen. There were crepitations at the bases of the lungs. It was thought that aortic dissection or rupture of an aortic valve cusp or sinus of Valsalva, might have occurred. The patient remained mentally dull and extremely ill. Cardiac failure persisted and there was little response to digitalis, a salt-free diet, mersalyl, aminophylline, and potassium chloride. A high fluid intake was allowed because of excessive sweating and thirst. Dullness developed at the left base, and antibiotics were started on the presumption that the left lower lobe pneumonia might be developing. The patient continued to deteriorate and developed severe electrolyte disruption, with dilution hyponatraemia and uraemia. The serum bicarbonate was 21, sodium 113, potassium 5.9, chloride 82 mEq/l, and the blood urea was 200mg/100ml. Potassium chloride was discontinued. No improvement resulted from increasing the salt intake and he became refractory to diuretics and to acupuncture of the legs. Spironolactone was not given in view of the very low serum-sodium concentration. Surgical treatment was considered contraindicated in view of the widespread dilatation of the aorta, the severe aortic incompetence and the intractable heart failure. He deteriorated steadily and diedn on January 21, 1960, being the aged 26.

PATHOLOGY

No accompanying notes.