Restrictive Cardiomyopathy

A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis.

Also Known As:

Networked: 366 relevant articles (8 outcomes, 18 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Constrictive Pericarditis
2.	Amyloidosis
3.	Congenital Heart Defects (Congenital Heart Defect)
4.	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
5.	Heart Failure

Experts

1.	Huang, Xupei: 7 articles (04/2020 - 09/2010)
2.	Potter, James D: 7 articles (06/2011 - 09/2005)
3.	Maurer, Mathew S: 6 articles (12/2020 - 02/2014)
4.	Liang, Jingsheng: 6 articles (08/2017 - 09/2005)
5.	Pinto, Jose Renato: 6 articles (02/2015 - 10/2009)
6.	Brodehl, Andreas: 5 articles (04/2022 - 03/2016)
7.	Tian, Jie: 5 articles (04/2020 - 09/2010)
8.	Parvatiyar, Michelle S: 5 articles (02/2015 - 01/2008)
9.	Gerull, Brenda: 4 articles (04/2022 - 01/2014)
10.	Finsterer, Josef: 4 articles (06/2018 - 04/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Restrictive Cardiomyopathy:

1.	Brain Natriuretic Peptide (Natrecor)FDA Link 08/01/2008 - "Brain (B-type) natriuretic peptide (BNP) and tissue Doppler imaging may distinguish restrictive cardiomyopathy (RCMP) from idiopathic constrictive pericardial disease (CP). " 08/01/2008 - "Comparison of usefulness of tissue Doppler imaging versus brain natriuretic peptide for differentiation of constrictive pericardial disease from restrictive cardiomyopathy." 06/07/2005 - "The efficacy of brain natriuretic peptide levels in differentiating constrictive pericarditis from restrictive cardiomyopathy." 01/01/2015 - "NT pro B type natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy." 04/04/2006 - "Brain natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy."
2.	Myosin Light Chains (Myosin Essential Light Chain)IBA 01/01/2019 - "Allele-Specific Silencing Ameliorates Restrictive Cardiomyopathy Attributable to a Human Myosin Regulatory Light Chain Mutation." 08/01/2017 - "The E143K (Glu → Lys) mutation in the myosin essential light chain has been associated with restrictive cardiomyopathy (RCM) in humans, but the mechanisms that underlie the development of defective cardiac function are unknown. "
3.	Calcium Channel Blockers (Blockers, Calcium Channel)IBA 10/01/2000 - "Calcium channel blockers may be helpful for severe diastolic dysfunction that occurs in those with restrictive cardiomyopathy. "
4.	DesminIBA 04/01/2001 - "Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy." 12/01/2021 - "Features of myocardial injury detected by cardiac magnetic resonance in a patient with desmin-related restrictive cardiomyopathy." 10/05/2021 - "The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3." 11/11/2019 - "Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect." 01/01/2017 - "Restrictive cardiomyopathy due to novel desmin gene mutation."
5.	Amyloid (Amyloid Fibrils)IBA 12/01/2022 - "Removal of cardiac AL amyloid with positive remodelling of cardiomyocytes and of restrictive cardiomyopathy." 11/17/2022 - "Cardiac involvement is also present in MM, characterized by restrictive cardiomyopathy generated by light chain deposit or amyloid. " 02/01/2022 - "The accumulation of amyloid in the extracellular space impairs the diastolic function of the myocardium, which is observed as the restrictive cardiomyopathy phenotype. " 01/01/2021 - "Overall 3-year survival was 81.6% (69.2% for AL and 86% for ATTR) and was comparable to survival for patients transplanted for non-amyloid restrictive cardiomyopathy (RCM) in the same period (89%, p = .46). " 01/01/2021 - "It is likely that a multistep treatment approach will be optimal for both AL CA and ATTR CA. Additionally, treatment of CA includes the management of restrictive cardiomyopathy with preserved or reduced ejection fraction in addition to treating the amyloid deposition. "
6.	Prealbumin (Transthyretin)IBA 12/01/2001 - "The Ile122 transthyretin variant associated with restrictive cardiomyopathy has been described in African-Americans and estimated to be present in approximately 4% of the Black population. " 03/01/1991 - "This individual, who died with restrictive cardiomyopathy, was found to be homozygous for this transthyretin variant and his son heterozygous for the variant. " 01/01/2023 - "Transthyretin cardiac amyloidosis (ATTR-CA) is a restrictive cardiomyopathy that has been associated with multiple orthopedic pathologies years before it manifests in the heart. " 01/01/2021 - "Wild-type transthyretin (ATTRwt) amyloidosis is the most common systemic amyloidosis in Western countries and manifests mainly as progressive restrictive cardiomyopathy. " 11/22/2016 - "The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropathy and restrictive cardiomyopathy denoting the name familial amyloidotic polyneuropathy (FAP). "
7.	TroponinIBA 01/01/2016 - "Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies." 01/01/2020 - "TNNI3 encoding cTnI, the inhibitory subunit of the troponin complex, is the main target for mutations leading to restrictive cardiomyopathy (RCM). " 06/28/2016 - "We have generated a restrictive cardiomyopathy (RCM) mouse model with troponin mutations in the heart to mimic the human RCM patients carrying the same mutations. " 01/01/2016 - "The first clinical study revealing the association between restrictive cardiomyopathy (RCM) with cardiac troponin mutations was reported in 2003. " 09/01/2010 - "Correcting diastolic dysfunction by Ca2+ desensitizing troponin in a transgenic mouse model of restrictive cardiomyopathy."
8.	Proteins (Proteins, Gene)FDA Link 01/01/2014 - "This study indicates that mutation in sarcomere protein genes may play an important role in idiopathic pediatric restrictive cardiomyopathy. " 01/01/2023 - "Modifications occurring to these proteins are responsible, in the vast majority of cases, for the phenotypic manifestations of the disease, including hypertrophic, dilated, arrhythmogenic and restrictive cardiomyopathies. " 01/01/2020 - "Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments." 12/30/2014 - "Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy." 12/01/2014 - "Mutations in genes encoding sarcomeric proteins are responsible for a range of diseases including hypertrophic, dilated and restrictive cardiomyopathies and ventricular non-compaction. "
9.	Myosins (Myosin)IBA 03/01/2008 - "Because of the location of the mutation in the hinge region between the rod part and the globular head of the myosin molecule, it is possible that restrictive cardiomyopathy resulted from an impairment of flexion/extension of myosin heads during the contraction/relaxation cycle." 02/01/2008 - "Enhanced myosin performance generates a phenotype apparently analogous to that of human restrictive cardiomyopathy, possibly indicating myosin-based origins for the disease. " 09/02/2005 - "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. " 01/01/2016 - "A Restrictive Cardiomyopathy Mutation in an Invariant Proline at the Myosin Head/Rod Junction Enhances Head Flexibility and Function, Yielding Muscle Defects in Drosophila."
10.	CalciumIBA 11/01/2004 - "Dystrophic cardiac calcinosis, an age-related cardiomyopathy, is associated with elevated bone resorption markers and it may cause alterations in cellular calcium hemostasis with initiation of deleterious events leading to aggravate dilated and restrictive cardiomyopathy and may result in intractable congestive heart failure. " 05/01/2015 - "Calcium desensitizer catechin reverses diastolic dysfunction in mice with restrictive cardiomyopathy." 05/01/2015 - "The present study investigates the effect of the green tea extract catechins on myofibril calcium desensitization and restoration of diastolic function in a restrictive cardiomyopathy (RCM) mouse model with cardiac troponin mutations. " 09/02/2005 - "Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development."

Therapies and Procedures

1.	Pericardiectomy 01/01/2011 - "A comprehensive evaluation by noninvasive and invasive studies facilitated the differentiation of CP from restrictive cardiomyopathy and the patient was effectively treated with pericardectomy. " 07/01/2022 - "While CP shares many clinical and haemodynamic similarities with restrictive cardiomyopathy, differentiation of these diseases is crucial as CP is potentially curative through pericardiectomy. " 07/01/1994 - "A diagnosis of restrictive cardiomyopathy was arrived at in 4 instances, always after pericardiectomy. " 02/01/1989 - "These changes disappeared after pericardiectomy and were not seen in patients with restrictive cardiomyopathy or in normal subjects. " 01/01/2005 - "Whereas constrictive pericarditis has the potential of being cured with pericardiectomy, restrictive cardiomyopathy is usually incurable. "
2.	Therapeutics 10/01/2021 - "The mainstay of therapy for EM is immunosuppressive drugs to help prevent its evolution to a fulminant form and chronic progression towards restrictive cardiomyopathy." 09/01/2019 - "Improvement of non-invasive diagnostic techniques and the development of new therapies increased clinical awareness for this form of restrictive cardiomyopathy. " 09/15/2017 - "Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy." 07/01/2004 - "By presenting a case report of a 15 year old adolescent, the aim of this article is to describe diagnosis, pathogenesis and therapy of restrictive cardiomyopathy. " 05/01/2016 - "Furthermore, a growing experience with expanded application of LVAD therapy in special patient populations, such as those with restrictive cardiomyopathy or congenital heart disease, demonstrates improved outcomes with LVAD compared with continued medical therapy. "
3.	Thoracotomy 11/01/1990 - "Thoracotomy continues, however, to be the gold standard by which to make the distinction, carrying with it significant risk in patients with underlying restrictive cardiomyopathy." 08/01/1999 - "Notoriously difficult to diagnose and distinguish from restrictive cardiomyopathy (RCM), the use of cardiac catheterization, echocardiography (transthoracic and transesophageal), central venous (hepatic and pulmonary) and transvalvular Doppler measurements, and magnetic resonance imaging should secure the diagnosis in most cases, eliminating the need for diagnostic thoracotomy. " 05/01/1987 - "It identifies a large subset of patients with specific forms of restrictive cardiomyopathy in whom thoracotomy should be avoided. " 05/01/1987 - "Restrictive cardiomyopathy versus constrictive pericarditis: role of endomyocardial biopsy in avoiding unnecessary thoracotomy." 12/01/1980 - "A restrictive cardiomyopathy, which developed in the patient described in this report, was due to hemochromatosis which mimicked constrictive pericarditis clinically, echocardiographically and hemodynamically, and resulted in a thoracotomy for attempted surgical therapy. "
4.	Heart Transplantation (Grafting, Heart) 01/01/2023 - "Children with restrictive cardiomyopathy (RCM) traditionally have a poor prognosis, with most patients either dying or requiring heart transplantation within 2 years of diagnosis. " 01/01/2023 - "We encountered a patient with CAV who underwent cardiac transplantation for restrictive cardiomyopathy at the age of 2 years. " 01/01/2023 - "He presented in infancy with rapidly evolving restrictive cardiomyopathy, requiring heart transplantation at the age of 5 years with favorable long-term cardiac and neuromuscular outcome. " 04/08/2022 - "Since it is a poor clinical prognosis, patients with restrictive cardiomyopathy frequently require heart transplantation. " 06/01/2021 - "Herein, we report the case of a 3-year-old boy with pure restrictive cardiomyopathy who successfully underwent heart transplantation after 12 months of support with staged biventricular assist devices. "
5.	Transplantation 06/01/2016 - "The characteristics and transplantation outcomes patients with radiation-induced restrictive cardiomyopathy are not established. " 01/01/2015 - "While overall outcomes after MCS and transplantation are similar in cancer survivors compared to other etiologies of HF, patients with radiation-induced restrictive cardiomyopathy have a significantly worse prognosis after transplantation. " 09/01/2005 - "Without transplantation, most children with restrictive cardiomyopathy have a very poor prognosis. " 04/01/2002 - "The mean age of diagnosis of restrictive cardiomyopathy was 6.3 years and the mean interval from diagnosis to referral for transplantation was 3.6 years. " 04/01/2002 - "We reviewed our experience with the presentation, evaluation, and short-term outcome in 8 pediatric patients with restrictive cardiomyopathy referred for transplantation. "