Mitral Regurgitation in a Patient with the Madan Syndrome

Transcription

1 Mitral Regurgitation in a Patient with the Madan Syndrome I BERNARD SEGAL, M.D.,* HRATCH KASPARIAN, M.D.,** AND WILLIAM LIKOFF, M.D., F.C.C.P,t N 1896, MARFAN DESCRIBED THE GROSS skeletal manifestations of the syndrome, which bears his name, calling the condition dolichostenomelia (long, thin extremities). The cardinal manifestations of this syndrome are skeletal, ocular, and cardiovascular. The major cardiovascular complications, namely aortic dilatation and dissecting aneurysm, were first described in 1943 by Baer and his associates! and by Etter and Glover: respectively. Aortic dilatation and aneurysm, aortic insufficiency, dissection of the aorta, aneurysms of the sinuses of Valsalva, idiopathic pulmonary artery dilatation and aneurysm and bicuspid aortic valves, have been associated with the Marfan syndrome. Mitral regurgitation in the Marfan syndrome is an infrequent association and for this reason this case is being presented. CASE REPORT The patient was a 16-year-old white woman, who was recently admitted to the Hahnemann Medical College and Hospital for evaluation of a systolic murmur at the apex. There was no history of rheumatic fever or endocarditis and she was completely asymptomatic. She presented with the following stigmata of the Marfan syndrome which included bilateral ectopia lentis, scoliosis, pectus carinatum, high arched palate, pes cavus, arachnodactyly and hyperextensibility of the joints. She was 69 inches tall with long and thin extremities (Figs. 1 and 2). Small "a" and "v" waves were noted in the jugular venous pulse with no elevation of pressure. The carotid pulse was considered normal, yet full. She had a left ventricular lift by palpation. A loud and sharp first heart sound was noted at the apex with wide splitting of the second heart - Associate in Medicine, Hahnemann Medical Collese and Hospital. ~-Senior Cardiac Fellow, Hahnemann Medical College and Hospital. tclinical Professor of Medicine and Director, Cardiovascular Section, Hahnemann Medical College and Hospital. Philadelphia, Pennsylvania 457 sound measuring,05 sec. during inspiration and.03 seconds during expiration. A late crescendo systolic murmur was present starting in mid systole and ending with aortic valve closure. This murmur was loudest at the apex (Fig. 3). FIGURE 1: Patient is tall and thin. Arachnodactyly is noted.

2 Diseasesof SEGAL, KASPARIAN AND LIKOFF Laboratory investigation, including a hemogram and urinalysis was normal. The BUN was 9 mg. per cent. Fasting blood sugar 83 mg. per cent, serum albumin 4.5 gm. per cent, globulin 3.2 gm. per cent. Serologic tests were negative and the PBI 7.4 meg. per cent. The electrocardiogram was normal (Fig. 4a), but in 1956, the T waves were inverted in leads 3, AVF, V 5 and V 6 and diphasic in lead 2 (Fig. 4b). The chest x-ray film showed a normal heart size with no left atrial enlargement. X-ray examination of the hands and feet showed the metacarpals, metatarsals and phalanges longer than normal. Right heart catheterization failed to reveal an oxygen step-up in the superior vena cava, right atrium, right ventricle and pulmonary artery. The pressures were considered normal. A left ventriculography by the retrograde approach employing the left femoral artery was -- i~\ r ~ V'v ~ FIGURE 2: the Chest Pectus carinatum is demonstrated. - - ~ "I I~ V'v ~ ECG /'..J \, CAR. ~ ~ / I II J 3: Phonocardiogram taken at the pulmonary area (PA) and the mitral area (MA) simultaneously. There is a loud first heart sound with wide splitting of the second beart sound (ArP.) and a late systolic murmur (8M). FIGURE

3 Volume 41, No.4 April 1962 MITRAL REGURGITATION IN MARFAN SYNDROME 459 performed. A #8 Lehman cardiac ventriculography catheter was introduced and advanced without difficulty to the ascending aorta, across the aortic valve into the left ventricle. The tip of the catheter was positioned at the apex of the left ventricle and with the patient turned for lateral projection and employing cine filming, 35 ml. of cardiografin (Renografin) were rapidly injected. There was a definite regurgitant opacification into the left atrium. This regurgitation appeared to be quite large, at least 3+. The left atrium was considered, by this method, about twice the normal size. There was no evidence of dilatation of the ascending aorta and the aortic sinuses and cusps presented a normal appearance (Figs. 5 and 6). Pressures were recorded during the left ventriculography showing no gradient across the aortic valve on withdrawal of the catheter. DISCUSSION Mitral valve deformity in a patient with the Marfan syndrome was first recorded by Salle in Subsequently, Traisman and Johnson' emphasized that mitral valve abnormalities do occur in patients with the Marfan syndrome. They presented a necropsy report of a nine-month-old boy with a "peculiar serrated border of the mitral and tricuspid valves, with thickening along FIGURE 4a: Electrocardiogram taken in The tracing is normal.

4 SEGAL, KASPARIAN AND LIKOFF Diseases of the Chest the free border and with a chordae tendinae attached to the center of each serration." Bowers' described five cases with mitral valve abnormalities in association with the Marfan syndrome at necropsy examination. The mitral valves were described as abnormally thick in four cases and the chordae tendinae short and thick in two cases. There was actual rupture of the chordae tendinae close to its attachment at the valve leaflet in one subject. Multiple cusps were described in two patients. The mitral valve deformity is probably an intrinsic part of the genetically determined abnormality of connective tissue. This defect might result in redundancy of the mitral cusps and chordae tendinae creating mitral regurgitation. In one patient described by McKusick,' a musical apical systolic murmur was noted and at necropsy there was a partial evulsion of the cusp with mitral regurgitation due to a tear at the insertion of the posterior mitral cusp. A case is also described in which acute bacterial endocarditis was engrafted on the mitral valve in a patient with the Marfan syndrome.' Since rheumatic, fever and en- 1 Vi ~\.;. l.. II AVR.' V. t. ;',l.,... " ".' ;~ iii.'':r~.::~~ /:'. '.. FIGURE 4b: Electrocardiogram of the same patient taken in Abnormal T waves are seen in leads 2, 3, AVF, V5 and V6.

5 Volume 41, No.4 April 1962 MITRAL REGURGITATION IN MAR FAN SYNDROME docarditis may pass unrecognized during life, one can only speculate at the present time as to the etiology of the mitral regurgitation in our patient. It is of interest to note that the electrocardiogram of this patient is perfectly normal at the present time. However, in 1956, abnormal T waves were present in leads 2, 3, AVF, v, and V6. These findings are in keeping with those changes described by Bowers' who collected a series of five patients with the Marfan syndrome and associated mitral valve deformity. In these patients the ST segment was depressed and T wave inverted in leads 2, 3 and AVF. These ST-T wave abnormalities were absent in patients with rheumatic mitral regurgitation. Thus, the electrocardiogram may serve to distinguish between the mitral valve insufficiency of rheumatic heart disease and of the Marfan syndrome. The late crescendo systolic murmur is of great interest in that the murmur begins during the mid-systole and ends with aortic valve closure. The explanation for this late systolic murmur is still dubious, but the hiatus between the first heart sound and the beginning of the murmur may be attributed to competency of the valve during early systole. As left ventricular pressure FIGURE 5 : Thoracic catheter ventriculography-left lateral projection. LA: left atrium. LV : left ventricle. AA: ascending aorta. The opaque material is injected in the left ventricle with the tip of the catheter positioned at the apex, showing moderately severe mitral regurgitation.

6 SEGAL, KASPARIAN AND L1KOFF Diseases 01 the Chest FIOURE 6: Thoracic catheter aortography, A-P projection. The opaque material is injected in the ascending aorta, showing no aortic valve deform ity, no dilatation of the ascending aorta and no aortic regurgitation. increases during mid-systole mitral regurgitation may become clinically evident owing to the redundancy of the chordae tendinae and the valve cusps. REFERENCES BAER, R. W., TAUSSIO, H. B., AND OPPEN HEIMER, E. H. : "Congenital Aneurysmal Dilatation of Aorta Associated with Arachnodactyly," Bull. Johns Hopkins Hosp., 72: 309, ETTER, L. E., AND GLOVER, L. P. : "Arachnodactyly Complicated by Dislocated Lens and Death from Rupture of Dissecting Aneurysm of Aorta," ].A.M.A., 123:88, SALLE, V.: "Uber einen Fall von Angeborener Abnormalen Grosse der Extermitaten mit einem an Akromegalie Erinnernden Syrnptomenkomplex," [ahrb, Kinderheilk., 75: 54-0, TRAISMAN, H. S., AND JOHNSON, F. R. : "Arachnodactyly Associated with Aneurysm of the Aorta," Am. J. Dis. cuu: 87 : 156, BoWERS, D.: "An Electrocardiographic Pattern Associated with Mitral Valve Deformity in Marfan's Syndrome," Circulation, 33: 30, McKuSICK, V. A. : Heritable Disorders of Connective Tissue, C. V. Mosby Co., St. Louis, 2nd edition, McKuSICK, V. A.: "The Cardiovascular Aspects of Marfan's Syndrome : A Heritable Disorder of Connective Tissue," Circulation, 11: 321, 1955.