Morphologic spectrum of primary restrictive cardiomyopathy

Angelini, Annalisa; Calzolari, Vittorio; Thiene, Gaetano; Boffa, Giovanni; Valente, Marialuisa; Daliento, Luciano; Basso, Cristina; Calabrese, Fiorella; Razzolini, Renato; Livi, Ugolino; Chioin, R

doi:10.1016/s0002-9149(97)00601-2

Cited by 79 publications

(40 citation statements)

References 24 publications

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“…This tendency is reflected within the PHTSG (Figure 1), in which restrictive cardiomyopathy represents 12% of the cardiomyopathy patients who have undergone transplantation. 20 Restrictive cardiomyopathy can be manifested as a solitary abnormality, although restrictive filling patterns of the left ventricle can be seen in patients with dilated 48 or hypertrophic 49 cardiomyopathies. Mortality rates in pediatric restrictive cardiomyopathy as high as 63% within 3 years of diagnosis and 75% within 6 years of diagnosis have been reported.…”

Section: Restrictive Cardiomyopathymentioning

confidence: 99%

Indications for Heart Transplantation in Pediatric Heart Disease

Canter¹,

Shaddy²,

Bernstein³

et al. 2007

Circulation

257

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Background— Since the initial utilization of heart transplantation as therapy for end-stage pediatric heart disease, improvements have occurred in outcomes with heart transplantation and surgical therapies for congenital heart disease along with the application of medical therapies to pediatric heart failure that have improved outcomes in adults. These events justify a reevaluation of the indications for heart transplantation in congenital heart disease and other causes of pediatric heart failure. Methods and Results— A working group was commissioned to review accumulated experience with pediatric heart transplantation and its use in patients with unrepaired and/or previously repaired or palliated congenital heart disease (children and adults), in patients with pediatric cardiomyopathies, and in pediatric patients with prior heart transplantation. Evidence-based guidelines for the indications for heart transplantation or retransplantation for these conditions were developed. Conclusions— This evaluation has led to the development and refinement of indications for heart transplantation for patients with congenital heart disease and pediatric cardiomyopathies in addition to indications for pediatric heart retransplantation.

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Section: Restrictive Cardiomyopathymentioning

confidence: 99%

Indications for Heart Transplantation in Pediatric Heart Disease

Canter¹,

Shaddy²,

Bernstein³

et al. 2007

Circulation

257

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“…RCM can be idiopathic or secondary to a number of rare cardiac and systemic disorders such as endomyocardial fibrosis, infiltrative disorders (amyloidosis, sarcoidosis), and rare metabolic disorders (Gaucher's disease and Fabry's disease) (5,6). Patients with the idiopathic form of RCM may have a family history of cardiomyopathy, and recent evidence suggests that the disease may be caused by the same genetic abnormalities that result in the more common HCM (1,7). Patients with RCM generally show impaired diastolic function but normal or near normal systolic function until later stages of the disease, eventually leading to heart failure.…”

mentioning

confidence: 99%

Mutations in Human Cardiac Troponin I That Are Associated with Restrictive Cardiomyopathy Affect Basal ATPase Activity and the Calcium Sensitivity of Force Development

Gomes

Liang

Potter

2005

Journal of Biological Chemistry

112

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Human cardiac Troponin I (cTnI) is the first sarcomeric protein for which mutations have been associated with restrictive cardiomyopathy. To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. All five mutations investigated showed an increase in the Ca 2؉ sensitivity of force development compared with wildtype cTnI. The two mutations with the worst clinical phenotype (K178E and R192H) both showed large increases in Ca 2؉ sensitivity (⌬pCa 50 ‫؍‬ 0.47 and 0.36, respectively). Although at least one of these mutations is not in the known inhibitory regions of cTnI, all of the mutations investigated caused a decrease in the ability of cTnI to inhibit actomyosin ATPase activity. Mixtures of wild-type and mutant cTnI showed that cTnI mutants could be classified into three different groups: dominant (L144Q, A171T and R192H), equivalent (K178E), or weaker (R145W) than wild-type cTnI in actomyosin ATPase assays in the absence of Ca 2؉ . Although most of the mutants were able to activate actomyosin ATPase similarly to wild-type cTnI, L144Q had significantly lower maximal ATPase activities than any of the other mutants or wild-type cTnI. Three mutants (L144Q, R145W, and K178E) were unable to fully relax contraction in the absence of Ca 2؉ . The inability of the five cTnI mutations investigated to fully inhibit ATPase activity/ force development and the generally larger increases in Ca 2؉ sensitivity than observed for most hypertrophic cardiomyopathy mutations would likely lead to severe diastolic dysfunction and may be the major physiological factors responsible for causing the restrictive cardiomyopathy phenotype in some of the genetically affected individuals.

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“…The degree of hypertrophy of the myocardium varied, as in previously reported. 8,9 Disarray of the myocardial tissue was found in half of those with hypertrophy of the myocardium. The histological features reflect the fact that there is no single etiology of RCM and the pathologic process is not specific.…”

Section: Discussionmentioning

confidence: 99%

“…In our series, 3 patients had hypertrophy of the LV wall and some patients with a hypertrophic ventricular wall and RCM have been previously reported. 1,[8][9][10] In the recent American Heart Association classification, RCM indicates restrictive nonhypertrophied cardiomyopathy, 11 but we believe that there is a second type of RCM in children, namely, restrictive hypertrophied cardiomyopathy. Our 3 patients with restrictive hypertrophied cardiomyopathy had a prolonged survival compared with the patients without LVH (Table 1).…”

Section: Discussionmentioning

confidence: 99%