Heart involvement in hepatolenticular degeneration

Abstract

The case of a 10‐year‐old boy with a mild abdominal form of hepatolenticular degeneration, showing clinical, laboratory and histological manifestations of heart involvement is reported. The microscopical examination of myocardial fragments collected by intracavitary puncture biopsy, using hematoxylin‐eosine and the histochemical method with rubeanic acid, showed a medium degree of myocardial damage and the presence of copper deposition in the tissue. Copper concentration on a myocardial biopsy fragment was almost 10 times the normal heart content. Comments are made on the relationship of the clinical, laboratory and pathological findings with the degree of copper storage on the myocardium.

Prognostic Value of Elevated Serum Ceruloplasmin Levels in Patients With Heart Failure

“…Cp levels do not seem to be related to amount of copper deposition in the liver or other tissues, giving the fact that many Wilson patients who responded to medical treatment had persistently low levels of Cp levels. Furthermore, patients with aceruloplaminemia tend to have higher iron deposition in tissue rather than copper [23, 24]. …”

Diagnosis of Wilson's Disease: A Comprehensive Review

“…Case reports with a typical presentations include: r hemolytic anemia; 56−59 r Coombs-positive hemolytic anemia; 60 r hepatocellular carcinoma; 61,62 r hypoglycemia; 63 r primary and secondary amenorrhea; 64,65 r recurrent spontaneous abortions; 66,67 r skeletal abnormalities including osteomalacia, osteochondritis, osteoarthritis, osteochondritis dessecans, bone fragmentation, and progressive multiple joint derangement; 68−71 r painless legs moving toes syndrome; 72 r isolated tongue protrusion movement; 73 r benign epilepsy of childhood; 74 r stroke-like attack; 75 r status epilepticus; 76,77 r poor cognitive development and abdominal pain; 78 r renal disorders such as hypercalciuria and nephrocalcinosis, 79 hematuria, 80 glomerulonephritis, 81,82 and renal tubulopathy, 83,84 recurrent limb weakness caused by hypokalemia complicated by distal renal tubular acidosis; 85,86 r respiratory failure; 87 r coexistence with primary antiphospholipid syndrome; 88 r cardiac abnormalities including cardiomyopathy, arrhythmias, left ventricular hypertrophy, biventricular hypertrophy, early repolarization, ST depression and T inversion, premature atrial or ventricular contractions, atrial and ventricular fibrillation, sino-atrial block, tremor artefact, orthostatic hypotension, and cardiac death. 89,90 WD has never been reported in two consecutive generations within a family except by Firneisz et al 91 The mother presented with hand tremors and an ataxic gait in her adulthood, while her son presented with jaundice at age 15 years. Both had KF rings and abnormal copper metabolism.…”

Myocardial integrated ultrasonic backscatter for early detection of cardiac involvement in patients with Wilson disease

“…Morphologic abnormalities and myocardial alterations consistent with cardiomyopathy have been previously reported in autopsy specimens of the hearts of Wilson disease patients (30). Myocardial damage and the presence of myocardial copper deposition 10-100 times the normal concentration have also been reported in the autopsy tissues of Wilson disease patients (4,39). However, conflicting results on the clinical impact of myocardial copper levels have been reported in previous studies (1,39,40).…”

“…Electrocardiographic abnormalities occur in 34% of cases, including left ventricular hypertrophy, biventricular hypertrophy, early repolarization, ST depression and T inversion, premature atrial or ventricular contractions, atrial fibrillation, sinoatrial block, and Mobitz type I atrioventricular (AV) block. Major pathological findings of the myocardium in Wilson disease patients include the presence of interstitial and replacement myocardial fibrosis, intramyocardial small vessel disease, focal myocarditis, cardiac hypertrophy, AV nodal degeneration, and occlusive atherosclerosis at an early age (1,3) These alterations are nonspecific but similar to those observed in other cardiomyopathies (4). Their existence in a relatively young group of patients without other significant etiology for the development of heart disease suggests the possibility of a direct relationship between Wilson disease and cardiac degeneration (1).…”

“…Cardiac manifestations in Wilson disease patients include many ECG abnormalities and arrhythmias such as atrial fibrillation, early repolarization, ST depression, T inversion, sinoatrial block, Mobitz type I AV block, tremor artifact (1,3,4), supraventricular tachycardia and frequent supraventricular ectopic beats (36), post-transplant electrical storm (37), P-wave dispersion abnormalities (38), cardiomyopathy (3,29,30,39,40), orthostatic hypotension and autonomic dysfunction (1,41), and cardiac deaths due to ventricular fibrillation and cardiac failure (29). Morphologic abnormalities and myocardial alterations consistent with cardiomyopathy have been previously reported in autopsy specimens of the hearts of Wilson disease patients (30).…”