1626

Brief Communications

American

December 1992 Heart Journal

Fig. 2. Lateral view of right coronary arteriogram after releaseof two Gianturco coils (black arrows). The coil that occludesthe mouth of the fistula (more anterior arrow) is difficult to seein this view becauseof superimpositionof contrast medium in the proximal right coronary artery. Contrast no longer “washesout,” and filling of the proximal coronary arteries is much improved.

nections without damagingthe true coronary arteries can be difficult. Only the epicardial surface of the coronary arteries can be seenexternally, and the orifices of fistulae may be difficult to discern from trabeculations internally. Selective angiography can clearly demonstrate the anatomy of fistulous connections and the true coronary arteries, so an intravascular approach to closure seemsintuitively preferable to the surgical approach. As in this case,an angiographer-interventionalist can perform trial occlusionof feeding vesselsto be certain that permanent occlusion of the vesselat a specificsite will not be detrimental. This case illustrates that it is possibleto closeeven a distal coronaryto-ventricular communication in a small child without the expenseand risk of morbidity, which are associatedwith surgery.

Schieken RM. Case of steel versus steal: coil embolization of congenital coronary arteriovenous fistula. AM HEART J 1991; 121:909-11. 6. Reidy JF, Anjos RT, Qureshi SA, Baker EJ, Tynan MJ. Transcatheter embolization in the treatment of coronary artery fistulas. J Am Co11 Cardiol 1991;18:187-92.

Apical hypertrophic cardiomyopathy of the Japanese type: Occurrence with familial hypertrophic cardiomyopathy in a family Ko, MD, Meng-Huan Lei, MD, Fu-Tien Chiang, MD, Jin-Jer Chen, MD, Peiliang Kuan, MD, and Wen-Pin Lien, MD Yu-Lin

REFERENCES

1. Levin DC, Fellows KE, Abrams HL. Hemodynamically significant primary anomalies of the coronary arteries. Circulation 1978;58:25-34. 2. Urrutia-S CO, Falaschi G, Ott DA, Cooley DA. Surgical management of 56 patients with congenital coronary artery fistulas. Ann Thorac Surg 1983;35:300-7. 3. Hartnell G, Jordan S. Balloon embolization of a coronary arterial fistula. Int J Cardiol 1990;29:381-3. 4. Issenburg HJ. Transcatheter coil closure of a congenital coronary arterial fistula. AM HEART J 1990;120:1441-3. 5. Moskowitz WB, Newkumet KM, Albrecht GT, Goble MM.

Taipei,

Taiwan,

Republic

of China

From the Division of Cardiology, Department of Internal Medicine. National Taiwan University Hospital, Taipei. Reprint requests: Wen-Pin Lien, MD, Department of Internal Medicine, National Taiwan University Hospital, No. 7 Chug-shan South Road, Taipei 100, Taiwan, Republic of China. 4/4/41401

Volume

124

Number

6

Hypertrophic cardiomyopathy (HCM) is often familial in occurrence and the usual mode of inheritance is an autosoma1 dominant trait. Most affected relatives of persons with HCM are known to have a markedly dissimilar morphologic appearance of left ventricular hypertrophy (LVH). Almost all patterns of distribution of myocardial hypertrophy may represent an expression of genetically transmitted HCM.l Apical HCM of the Japanese type is, however, the only exception. Japanese investigators have found a negative family history in nearly all of their cases with apical HCM, and apical HCM of the Japanese type is considered genetically heterogeneous to HCM.2, 3 Herein a Chinese family with familial HCM is reported, and various forms of LVH are demonstrated. These include a case of apical HCM of the Japanese type and seven relatives affected with HCM. As far as is known, a typical case of apical HCM of the Japanese type, coexisting with other forms of HCM in the same family, has not been previously reported. It is suggested that apical HCM of the Japanese type may be genetically transmitted with other forms of HCM. Case reports. The pedigreeof a Chinesefamily is shown in Fig. 1. Patient III-5 wasa 40-year-old man who wasexaminedbecauseof a family history of HCM. He wasin good health and free of any symptoms. Physically, blood pressure was 138/80 mm Hg and the pulse rate was 70 per minute and regular. The apical impulse wasnot displaced but forceful in character. A grade 2/6 systolic ejection murmur washeard along the left sternal border. The electrocardiogram (ECG) showedtall R waves and giant negative T wavesin leadsV4 and Vs (Fig. 2). Two-dimensional echocardiography (2-D echo) demonstrated LVH confined to the apical region, and the ratio of apical-to-basal ventricular septal thicknesseswas 1.67 (Fig. 3). Thallium201scintigraphy showedthat the uptake wasmarkedly increasedin the LV apex. Cardiac catheterization demonstrated no pressuregradient acrossthe LV outflow tract. A left ventriculogram revealed a characteristic spade-on-aplaying-card configuration of the LV cavity in end diastole, and the apical portion of the LV was obliterated in systole (Fig. 4). Patient, 111-7,a younger brother of patient 111-5,was a 35-year-old man with a history of exertional dyspnea of 10 months’ duration, together with attacks of dizziness. On physical examination only a prominent apical impulsewas noted; there wasno cardiac murmur. The ECG showedtall R wavesand mild T wave inversions in the left precordial leads and the heart was borderline in size on the chest roentgenogram.2-D echo revealed disproportionate LVH at the apical region. The thicknessof the basalseptum was 15 mm, and the ratio of apical-to-basal septal thicknesses was1.53.No systolic anterior motion of the mitral valve was noted. The echocardiographicfindings werevery similar to thoseof patient III-5 except that basalseptal hypertrophy was present. Patient II-l, the mother of patient 111-5,was noted to have an abnormal ECG at age65, which included QS patterns with an elevated ST segmentin leadsVs and V4 and abnormal Q waves in leads Vs and Vs. Physical examina-

Brief Communications

r

1627

5678910

Fig. 1. Pedigree of a Chinesefamily with familial hypertrophic cardiomyopathy (HCM). Solid symbols indicate caseswith a definite diagnosisof HCM, half-filled symbols indicate caseswithout echocardiographicevidenceof HCM. Open symbols denote subjectsnot evaluated by echocardiography; slash lines demarcate subjects who are dead. Stars mark subjectswho died suddenly. Circle denotesfemale; square denotesmale. Patient identification numbers are shown below the symbols.

tion wasessentiallynormal. M-mode echocardiographyrevealed asymmetric septal hypertrophy and mild systolic anterior motion of the mitral valve. The ventricular septal thickness was21 mm. The mother had died from recurrent cerebral embolismand congestive heart failure at age 70. Patient 111-2,elder sister of patient 111-5,beganto suffer from exertional dyspnea at age 30. Physical examination revealed a grade 2/6 systolic ejection murmur alongthe left sternal border; the ECG showedabnormalQ wavesin leads II, III, aVF, and Vs to Ve. Cardiac catheterization demonstrated a thickened ventricular septum on the biventriculogram but no pressuregradient was recorded acrossthe LV outflow tract. Echocardiography done 10 years later showedasymmetric septal hypertrophy (septal thickness 17 mm) and normal wall thicknessat the LV apical region. Patient III-lo, a niece of patient 111-5,developed lower leg edemaand puffy face at age 20. M-mode echocardiography showed asymmetric septal hypertrophy (septal thickness 17 mm) and systolic anterior motion of the mitral valve. Cardiac catheterization recorded a pressuregradient of 80 mm Hg acrossthe LV outflow tract. Septal myectomy was done, bringing relief from her symptoms. Her father, patient 11-4, had shown exertional dyspnea sinceage30. Whenever he visited our hospital, a grade 216 midsystolic ejection murmur over the apex washeard. The ECG showedabnormal Q waves in leads II, III, aVF, and Vh to Vs. He had not undergoneechocardiography or angiographic examinations but died suddenly at age 50. Patient 111-11,in whom no detailed work-up wasdone, also died suddenly in his teens. Patient I-2, the grandmother of patient 111-5,had no cardiac symptoms until age 89, when she began to suffer from anorexia and lower legedema.Serial echocardiograms revealed asymmetric septal hypertrophy (septal thickness

1626

American

Brief Communications

Fig. 2. Twelve-lead waves.

electrocardiogram

of patient

III-5

showing

LV hypertrophy

and giant

December 1992 Heart Journal

negative

T

Fig. 3. Two-dimensional echocardiograms in the short-axis view (A) and parasternal long-axis view (B and C) C) of patient 111-5, showing normal left ventricular (LV) wall thicknesses at the basal portion (A) and markedly thickened LV walls at the apical portion (B and C). LA Left atrium; RV right ventricle.

Volume Number

124 6

Brief Communications

1629

4. Serial left ventriculograms in the right anterior oblique projection for patient 111-5.A, End systole; 6, mid diastole; C, end diastole. Note the spade-on-a-playing-card configuration of the left ventricular chamber, with a marked increasein the free wall thickness toward the apex in end diastole.

Fig.

20 mm) and a pressuregradient of 30 mm Hg acrossthe LV outflow tract. She died at age 91. In the other 13 relatives in this family including the father of patient 111-5,all examined by 2-D echo, the results were normal. Comments. A Chinese family with familial HCM was described.The index patient, 111-5,presentsa typical case of apical HCM of the Japanesetype. In this family, a case of disproportionate apical hypertrophy without giant negative T waves was found, as well as four other casesof asymmetric septal hypertrophy with or without LV outflow tract obstruction. Two distinct types of apical HCM have been suggested2-5: one is apical HCM of the Japanesetype and the other is apical hypertrophy without giant negative T waves.The latter is consideredpart of the morphologic spectrum of HCM. Apical HCM of the Japanesetype may also be genetically transmitted. Distinct papillary muscle hypertrophy with deeply inverted T waveswasfound in the brother of a patient with asymmetric apical hypertrophy.3 Recently, positive family histories in a few patients with giant negative T waves or asymmetric apical hypertrophy have been reported 4,6,7; however, not all the casesdescribed have sharedall the characteristic findings of apical HCM of the Japanesetype, as first describedby Japanese investigators.8 Furthermore, none of the family pedigrees or the echocardiographic findings in the affected relatives of these patients were demonstrated. To the best of our knowledge, this is the first report describing a typical caseof apical HCM of the Japanesetype coexistent with various other forms of HCM in the same family. The mode of inheritance is assumedto be autoso-

ma1dominant. The presencein two brothers in the same family of two types of apical hypertrophy is unique. These two types had been previously thought to be genetically distinct.2-” The present report suggeststhat apical HCM of the Japanesetype may be genetically transmitted with other forms of HCM. Recently one of the genetic loci of HCM hasbeen mappedto chromosome14ql by Jarcho et a1.gIt is noted that familial HCM is a genetically heterogeneousdisease,lO, l1 and the defective gene in somefamilies may be localized at the cardiac myosin heavy chain gene.12Molecular genetic study in the present family also showedno evidence for linkage between its genetic defect and the chromosome14qll0cus.~~The eventual discovery of defective gene(s)of HCM will help to unravel the genetics of apical HCM of the Japanesetype. REFERENCES

1. Cir’o E, Nichols PF III, Maron BJ. Heterogeneous morphologic expression of genetically transmitted hypertrophic cardiomyopathy: two-dimensional echocardiographic analysis. Circulation 1983;67:1227-33. 2. Yamaguchi M, Setoguchi Y, Toshima H, Koga Y. Genetic study of hypertrophic cardiomyopathy: with special reference to a&al hypertrophy. Jpn Heart J 1982;46:735. 3. Sakamoto T. Amano K. Hada Y. Tei C. Takenaka K. et al. Asymmetric ‘apical hypertrophy: ten yea& experience: Postgrad Med J 1986;62:567-70. 4. Louie EK, Maron BJ. Apical hypertrophic cardiomyopathy: clinical and two-dimensional echocardiographic assessment. Ann Intern Med 1987;106:663-70. 5. Maron BJ. Apical hypertrophic cardiomyopathy: the continuing saga. J Am Co11 Cardiol 1990:15:91-3.

Brief Communications

1630

American

6. Koga Y, Itaya M, Takahashi H, Koga M, Ikeda H, et al. Apical hypertrophy and its genetic and acquired factors. J Cardiography 1985;15(suppl 6):65-74. 7. Webb KG, Sasson Z, Rakowski H, Liu P, Wigle D. Apical hypertrophic cardiomyopathy: clinical follow-up and diagnostic correlates. J Am Co11 Cardiol 1990;15:83-90. 8. Yamaguchi H, Ishimura T, Nishiyama S, Nagasaki F, Nakanishi S. Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. Am J Cardiol 1979;44:401-12.- 9. Jarcho JA, McKenna W, Pare JAP, Solomon SD, Holcombe RF. et al. MaDDine a gene for familial hvpertrophic cardiomyopathy to ch&moiome 14ql. N Engl J-tied 1$89;321:1372-8. 10. Solomon SD, Jarcho JA, McKenna W, Geisterfer-Lowrance AAT, Germain R, et al. Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. J Clin Invest 1990;86:993-9. 11. Ko YL, Lien WP, Chen JJ, Wu CW, Tang KT, Liew CC. No evidence for linkage between a Chinese family with familial hypertrophic cardiomyopathy and chromosome 14ql locus D14S26: evidence for genetic heterogeneity. Hum Genet (In press) 12. Geisterfer-Lowrance AAT, Kass S, Tanigawa G, Vosverg HP, McKenna W, et al. A molecular basis for familial hypertrophic cardiomyopathy: a cardiac myosin heavy chain gene missense mutation. Cell 1990;62:999-1006.

Cardiac amyloidosis detected by indium-1 11 antimyosin imaging

and incomplete right bundle branch block. Twenty-four hour Holter monitoring showedfrequent ventricular premature beats and rare episodesof ventricular tachycardia. The cardiothoracic ratio on chest x-ray wasborderline, and a small pleural effusion on the right was evident. The echocardiogramshowedmild left ventricular hypertrophy with normal diameter, mild left atria1 enlargement, and normal systolic function; Doppler echocardiography showedI+ mitral and 2+ tricuspid insufficiency. Left- and right-sided cardiac catheterization was remarkable for mild elevation of pressurein the right atrium (10 mm Hg), right ventricle (42/Omm Hg), and pulmonary artery (41/17 mm Hg); pulmonary capillary wedge pressurewas 18 mm Hg, and cardiac output was 5 L/min. Coronary arteries were normal, and left ventricular ejection fraction was 50%. Results of thallium-201 perfusion scanning at rest werenormal (Fig. 1). Right ventricular endomyocardial biopsy showedhypertrophy of myocytes with degenerative changes.Congo-red staining was positive for amyloid in vesselwalls and interstitially. There were no signsof myocarditis.

Myosin-specific

Greece

One of the morelikely causesof restrictive cardiomyopathy is cardiac amyloidosis, the diagnosis of which may be missedfrequently during life.’ Radionuclide imaging with technetium-99m pyrophosphate yields valuable resuIts,2 whereasthe useof *231-labeledserumamyloid phosphorus component appears promising for the identification of amyloidosis.3We recently detected a caseof cardiac amyloidosis associatedwith multiple myeloma in which indiurn-111 antimyosin imageswere increasingly positive. A 57-year-old womanwas first seenwith exertional dyspnea, episodes of paroxysmal nocturnal dyspnea, and edema of the lower extremities. Physical examination findings included low arterial blood pressure(100/70 mm Hg), jugular venous distention, and hepatomegaly. ECG revealed low-voltage first-degree atrioventricular block From the Departments of Clinical Therapeutics and Nuclear Medicine, Alexandra University Hospital.

41414

requests: Greece. 1398

John

Lekakis,

MD,

80 Alkionis

St., P. Faliron

antibody

(Myoscint,

2 mCi of “lIn

was diluted

to a 10 ml volume

and

administered intravenously by slow injection. Planar imaging

was performed

175 62.

48 hours

later;

three

views

were

obtained (anterior and 45-degreeand 70-degreeleft anterior

oblique)

by means

of a 128 X 128 matrix

for

10

minutes/view. Diffuse and intense uptake of antimyosin was evident in both ventricles (Fig. 2), indicating myocyte damage.Determination of urinary and serumprotein concentrations

Reprint Athens,

monoclonal

Centocor Inc., Malvern, Pa.) was supplied as a sterile nonpyrogenic solution containing 0.5 mg of RI1 Dlo Fab DTPA, which is a mousemonoclonal antibody fragment that binds specifically to myosin. Antimyosin was radiolabeled by the addition of sterile I’In chloride. Approximately

John Lekakis, MD, John Nanas, MD, Chrysa Moustafellou, MD, John Darsinos, MD, John Germanidis, MD, Nicos Agapitos, MD, Panos Kostamis, MD, and Spyridon Moulopoulos, MD Athens,

December 1992 Heal Journal

by electrophoresis

and immunoelectrophoresis

yielded findings consistentwith plasmacell dyscrasia;bone marrow studiesestablisheda diagnosisshowinginfiltration by plasma cells. ‘llIn-labeled antimyosin monoclonal antibodies have been shownto bind specifically to areasof necrosisin vitro4; on postmortem imaging, tracer uptake matched the triphenyltetrazolium chloride staining, confirming that myosin-specific antibody binds specifically to damaged myocardial cells.5 Previous studies reported antimyosin uptake in patients with myocardial infarction, myocarditis, dilated cardiomyopathy, cardiac transplant rejection, and adriamycin cardiotoxicity.6 This is the first report showing antimyosin uptake in cardiac amyloidosis. The pattern of uptake is a typical diffuse one, analogousto that found in myocarditis, indicating a global effect of amyloid deposits on myocyte membranes.Rupture of the myocardial cell membrane and exposure of myosin are necessary for antimyosin to bind to the myocardium and showa positive scintigraphic result. In addition, although no data are available, the possibility that antimyosin binds to amyloid cannot be excluded. Identification of cardiac amyloidosis remains problem-

Apical hypertrophic cardiomyopathy of the Japanese type: occurrence with familial hypertrophic cardiomyopathy in a family.

1626 Brief Communications American December 1992 Heart Journal Fig. 2. Lateral view of right coronary arteriogram after releaseof two Gianturco co...
5MB Sizes 0 Downloads 0 Views