The impetus to investigation of cardiovascular complications in the Marfan syndrome was the descriptions of aortic dilatation and dissecting aneurysm1,2 in 1943. A number of necropsy series3-8 subsequently published showed increased frequency of cardiovascular lesions. These reports focused their attention on the aortic pathology (dissecting aneurysm, fusiform aneurysm, and dilated aortic ring), with little emphasis placed on other vascular abnormalities. Thickening, wrinkling, nodularity, shortened chordae tendineae, and other deformities of the mitral valve were alluded to as incidental findings.Recent reports 9-15 have stressed the increased frequency with which significant mitral insufficiency is being recognized in the Marfan syndrome. However, association of this valvular defect with a calcified mitral annulus has been infrequent.6,15We report a patient with the Marfan syndrome who had mitral insufficiency and massive calcification of the annulus fibrosus.Patient Summary This 21-year-old white woman was referred to the Naval Hospital, Great Lakes, 111, in July 1965 for evaluation of a heart murmur which had been present since birth. Her only complaint was that of slight dyspnea on exertion, and she denied a history of rheumatic fever.Her family history was significant in that her brother died at age 16 of con¬ gestive heart failure. Pertinent post¬ mortem findings revealed arachnodacty-ly, a highly arched palate, cardiomegaly with a biscuspid aortic valve, cystic medial necrosis of the aorta and pul¬ monary artery, and a minimal coarctation of the aorta. Postmortem diagnosis was that of "Marian's syndrome." The patient's mother died at age 46. No autopsy was performed. Examination at another hospital prior to death dis¬ closed a dolichohabitus with pectus carinatum, a régurgitant murmur at the apex with radiation to the axilla, and a basal systolic murmur with an accom¬ panying short diastolic component. A chest x-ray film showed left ventricular hypertrophy, left atrial enlargement, and a prominent pulmonary outflow tract.A 19-year-old sister was evaluated at our clinic and found to be free of stig¬ mata of the Marfan syndrome. She had no cardiovascular abnormalities, but the electrocardiogram showed an inter¬ mittent Wolff-Parkinson-White pattern.Our patient was 174 cm (68.5 inches) tall, with a pubis-to-heel length of 94 cm. The upper segment-lower segment ratio was 0.85.'" The arm span was 175 cm. She was asthénie with a paucity of subcutaneous fatty tissue, moderate myopia without gross displacement of the lens, a highly arched palate, and a pectus carinatum with anterior subluxation of the left sternoclavicular joint. The point of maximal cardiac im¬ pulse was 3 cm to the left of the midclavicular line. A left ventricular heave and a systolic thrill were palpable at the apex. The first sound was increased and a loud third heart sound was audi¬ ble in diastole. A grade 5/6 pansystolic murmur was heard over the entire precordium loudest at the apex with radia¬ tion to the axilla (Fig 1).A chest x-ray fi...
