Idiopathic infantile cardiomyopathy with involvement of the conduction system

Kauffman, Shirley L.; Chandra, Nakul; Peress, Nancy S.; Rodríguez‐Torres, Ramón

doi:10.1016/0002-9149(72)90603-0

Cited by 38 publications

(10 citation statements)

References 15 publications

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“…The LIC patient with cytochrome b deficiency occurred spontaneously within the pedigree, as did other cases with similar clinicopathologic findings (Amini et al, 1980;Witzleben and Pinto, 1978;Ross and Belton, 1968;Bruton et al, 1977;Haese et al, 1972;Kauffman et al, 1972;Ferrans et al, 1976;Suarez et al, 1987;Hug and Schubert, 1970). Two pedigrees contain affected siblings (Suarez et al, 1987).…”

Section: Lethal Infantile Cardiomyopathy (Lic)supporting

confidence: 62%

Oxidative Phosphorylation Diseases

Shoffner

Wallace

1990

Advances in Human Genetics

246

157

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Section: Lethal Infantile Cardiomyopathy (Lic)supporting

confidence: 62%

Oxidative Phosphorylation Diseases

Shoffner

Wallace

1990

Advances in Human Genetics

246

157

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“…It has been suggested that the lipid may be derived from mitochondrial membranes. 16 This view is supported by our ultrastructural findings of membrane bound fat vesicles in the mitochondria. Electron microscopic examination shows swollen cells distended by large numbers of centrally located mitochondria.…”

Section: Discussionsupporting

confidence: 73%

Foamy myocardial transformation of infancy: an inherited disease.

Súarez¹,

Fuggle²,

Cameron³

et al. 1987

J Clin Pathol

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Voth' first recognised this rare condition in 1962 and defined it as arachnocytosis of the heart muscle. In 1965 Hudson2 referred to a child who had died in atrial tachycardia and whose heart showed an unusual form of lipid storage disease with no other organ affected.The cases reported have been predominantly in females and under 24 months of age. Various arrhythmias, mainly tachycardias, have been detected before death in several cases. Sudden death in an apparently healthy infant, however, has been documented in several others.At necropsy the heart is enlarged. Histological examination shows myocytes with a swollen, foamy, and granular cytoplasm. Ultrastructural studies have shown that this granularity is due to increased numbers of enlarged mitochondria.The aetiology is unknown, but a genetic basis has been proposed, based on the strong female preponderance.3 The following case reports add further evidence to a hypothesis of a genetic aetiology. Case reports CASES 1 AND 2Two children were born to caucasian nonconsanguineous parents (family A), were separated by an eight year interval. A third sibling, a 7 year old male, at the time of death of the second child, is alive and well at the time of writing.

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“…This patient responded initially to resuscitative measures, but then developed recurrent bouts of supraventricular and ventricular tachycardia, ventricular fibrillation, and had terminal cardiac arrest on the third day of hospitalization. The initial arrhythmia in patient 6 probably was also a supraventricular tachycardia; the patient had a regular pulse with a rate of 300 beats/min (electrocardiograms were not made at that time). Of the eight previously reported patients, four (8,10,12,14) had supraventricular tachycardia as the presenting arrhythmia (including 14, who had Wolff-Parkinson-White syndrome), two (11 and 13) had ventricular tachycardia, one (7) had runs of both ventricular and supraventricular tachycardia, and one (9) died suddenly.…”

Section: Clinical Observationsmentioning

confidence: 99%

Infantile cardiomyopathy with histiocytoid change in cardiac muscle cells. Report of six patients.

Ferrans¹,

McAllister²,

Haese³

1976

Circulation

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Clinical and pathologic findings are presented in 14 patients (six newly reported, eight described previously), all children ranging in age from 6 to 24 months, with a clinicopathologic syndrome termed "infantile cardiomyopathy with histiocytoid change in cardiac muscle cells." This syndrome is manifested clinically by severe, eventually fatal cardiac arrhythmias, and is characterized pathologically by cardiac hypertrophy and by a distinctive type of focal degeneration of the muscle cells, which lose their myofibrils, undergo marked mitochondrial hyperplasia, become rounded in shape and enlarged, and resemble histiocytes. Evidence is presented to support the conclusions that these manifestations are those of a cardiomyopathy, that cardiac hypertrophy precedes the onset of the clinical features, that the focal degeneration is likely to be a cause rather than a consequence of the arrhythmias, and that the latter develop only in the late stages of the disorder. The etiology of this cardiomyopathy remains unclear.

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Idiopathic infantile cardiomyopathy with involvement of the conduction system

Cited by 38 publications

References 15 publications

Oxidative Phosphorylation Diseases

Oxidative Phosphorylation Diseases

Foamy myocardial transformation of infancy: an inherited disease.

Infantile cardiomyopathy with histiocytoid change in cardiac muscle cells. Report of six patients.

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