The 57th Monthly Clinicopathological Conference of the Odawara Municipal Hospital on September 14 1992
SN-723 OOOO. XXXX 12 y. F.
1992. 5. 2 (16. 5 hrs. p. m. )--------------------
Clinical Diagnosis by the Dept. Pediat.:
1. Acute heart failure
2. Pulmonary hemorrhage
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Patho-Anatomical Diagnosis by the Dept. Pathol. (Dr. Hasegawa):
l. Hypertrophic cardiomyopathy
2. Pulmonary hemorrhage
A. Hypertrophic cardiomyopathy: (Refer to the corresponding images)
1. Asymmetric hypertrophy of the interventricular septum, conspicuous in the mid portion, measuring 2.0 cm in width, and dilatation of both the ventricles of the hypertrophic heart (380 g/ 44 kg = circa 8.6, *152 g). The free wall of the left ventricle measuring 1.0 to 1.5 cm in thickness. No discernible subvalvular aortic stenosis found. Fibrous thickening of the endocardium of the dilated left atrium. No coronary sclerosis. or thromboembolism of the stem of the pulmonary artery. Histologically, severe disarray and disorganization of myocardial fibers showing abnormal branching, ovarlapping, hypertrophy and contraction band necrosis with hyperchromatic and bizarre nuclei, and accompanying interstitial edema and fibrosis (plexiform fibrosis). Subendocardial elastofibrosis of the left atrium, marked. Electron microscopically, disarray of myofibril, increase of mitochondria, without discernible focal deposition of Z band substance.
2. Congestion due to heart failure;
a. Pulmonary hemorrhage of both lobes with congestion and edema (830; 860 g), with marked edema of the interlobular septa. No pleural effusion.
b. Congestion of the liver (1,030 g, *840 g).
c. Splenomegaly (165 g, *55 g).
d. Congestion of the kidneys (115; 110 g, *75; 75 g).
B. Other findings:
l. Bloody content of the stomach (100 ml) and the jejunum (300 ml).
2. Hyperplasia of the lymphatic organs. Unremarkable thymus (25 g).
3. Swelling of the brain (1,300 g, *1,325 g), slight, with slight right tonsillar herniation. Microscopical bleeding of the parasagittal dura mater. Sand granules (corpora arenacea) of the pineal body, with retained alveolar structure of parenchyma.
4. Elastic aorta.
5. Fibrosis of the breast.
6. Mixed bone marrow of the femur, vertebrae and sternum.
7. Female genital organ under maturation.
8. Female adolescent cadaver of average built (44 kg/ 150 cm, *43 kg/ 139 cm).
(*age- and sex-matched control values)
Clinical Summary: 12-year-old female. Family history is positive for hypertensive cardiomegaly and cerebral infarct. Her past medical history is positive that abnormal ECG was noticed at age 6, and mitral insufficiency was suspected by echocardiography at age 10. She suddenly collapsed during running exercise at the junior high school at about 10 a.m. on May 1 1992, then brought to this hospital at 10:17 by ambulance, i.e., within 30 minutes after the onset. Resuscitation for cardiac arrest, and countershock against ventricular tachycardia and bradycardia (BP< 20-30 mmHg) was in vain. Exitus lethalis follwed at 18 p.m.
Laboratory Data: (May 1 1992) AST 104, ALT 81, LDH 626, CPK 211, WBC 6,800. RBC 4.91 x 106/mm3, Hb 14 g/dl, Ht 44%
Comments: This is a case of sudden death caused by hypertrophic cardiomyopathy. Sections from the interventricular septum and free wall of the left ventricle of the heart showed almost typical features of ASH type of HCM.
Molecular-genetic studies have recently demonstrated mutations in the beta cardiac myosin heavy-chain genes on chromosome 14 in some but not all families with familial hypertrophic cardiomyopathy, in which Watkins et al (Harvard Medical School) identified seven different missense mutations in that gene in 12 of 25 families (or 48 %) with the disease. In the context of differences in the risk of sudden and premature deaths among families, it is expected that the precise definition of the type of mutation could provide important prognostic information. Or, only God knows?
Reference:
l. Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE: Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. New Engl J Med 326:1108-1114, 1992.
A.Hasegawa. M. D., Ph.D.
Certified Pathologist #832
September 14 1992
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