Unclassified cardiomyopathies in neuromuscular disorders

Finsterer, Josef; Stöllberger, Claudia

doi:10.1007/s10354-013-0243-z

Cited by 13 publications

(2 citation statements)

References 78 publications

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“…Considering that an increase in heart-wall trabeculations can be found both in physiological conditions (such as in athletes or pregnant women) and in pathologies such as arterial hypertension, neuromuscular disorders, hematological disorders, and kidney diseases, other authors hypothesize that acquired mechanisms can contribute to the pathogenesis of LVNC [ 26 , 27 ]. In particular, myocardial remodeling could be the effect of physiological adaptations after pressure overloads, or it could be a sign of myocardial damage in conditions characterized by contractile dysfunction, since an increase in the ventricular surface area may be an effort to compensate for reduced contractile force [ 28 , 29 ].…”

Section: Discussionmentioning

confidence: 99%

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

Gragnaniello¹,

Rizzardi

Commone³

et al. 2023

JCM

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Classic infantile Pompe disease is characterized by a severe phenotype with cardiomyopathy and hypotonia. Cardiomyopathy is generally hypertrophic and rapidly regresses after enzyme replacement therapy. In this report, for the first time, we describe a patient with infantile Pompe disease and hypertrophic cardiomyopathy that evolved into non-compaction myocardium after treatment. The male newborn had suffered since birth with hypertrophic cardiomyopathy and heart failure. He was treated with standard enzyme replacement therapy (ERT) (alglucosidase alfa) and several immunomodulation cycles due to the development of anti-ERT antibodies, without resolution of the hypertrophic cardiomyopathy. At the age of 2.5 years, he was treated with a new combination of ERT therapy (cipaglucosidase alfa) and a chaperone (miglustat) for compassionate use. After 1 year, the cardiac hypertrophy was resolved, but it evolved into non-compaction myocardium. Non-compaction cardiomyopathy is often considered to be a congenital, primitive cardiomyopathy, due to an arrest of compaction of the myocardium wall during the embryonal development. Several genetic causes have been identified. We first describe cardiac remodeling from hypertrophic cardiomyopathy to a non-compaction form in a patient with infantile Pompe disease treated with a new ERT. This has important implications both for the monitoring of Pompe disease patients and for the understanding of the pathophysiological basis of non-compaction myocardium.

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Section: Discussionmentioning

confidence: 99%

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

Gragnaniello¹,

Rizzardi

Commone³

et al. 2023

JCM

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“…In addition to the common forms of cardiomyopathy, in humans there are several uncommon forms, including left ventricular noncompaction (LVNC). 12 At times, in humans, these have been placed in a category called unclassified cardiomyopathy. This term has also been used differently and inconsistently in veterinary medicine, mainly as a catch-all category to describe a cat with an abnormal echocardiographic pattern that does R E V I E W / Feline cardiomyopathies -general concepts not fit the structural and functional features (phenotypes) of the common cardiomyopathies or congenital malformations.…”

Section: Classificationmentioning

confidence: 99%

The Feline Cardiomyopathies: 1. General concepts

Kittleson

Côté

2021

Journal of Feline Medicine and Surgery

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Practical relevance: The feline cardiomyopathies are the most prevalent type of heart disease in adult domestic cats. Several forms have been identified (see Parts 2 and 3), with hypertrophic cardiomyopathy (HCM) being the most common. Clinically the cardiomyopathies are often indistinguishable. Cats with subclinical cardiomyopathy may or may not have characteristic physical examination findings (eg, heart murmur, gallop sound), or radiographic cardiomegaly. Cats with severe disease may develop signs of heart failure (eg, dyspnea, tachypnea) or systemic arterial thromboembolism (ATE; eg, pain and paralysis). Sudden death is possible. Treatment usually does not alter the progression from subclinical to clinical disease and often the treatment approach, once clinical signs are apparent, is the same regardless of the type of cardiomyopathy. However, differentiating cardiomyopathy from normal variation may be important prognostically. Patient group: Domestic cats of any age from 3 months upward, of either sex and of any breed, can be affected. Mixed-breed cats are most commonly affected but certain breeds are disproportionately prone to developing HCM. Diagnostics: Subclinical feline cardiomyopathies may be suspected based on physical examination findings, thoracic radiographs and cardiac biomarker results but often the disease is clinically silent. The definitive clinical confirmatory test is echocardiography. Left heart failure (pulmonary edema and/or pleural effusion) is most commonly diagnosed radiographically, but point-of-care ultrasound and amino terminal pro-B-type natriuretic peptide (NT-proBNP) biomarker testing can also be useful, especially when the stress of taking radiographs is best avoided. Key findings: Knowledge of pathophysiological mechanisms helps the practitioner identify the feline cardiomyopathies and understand how these diseases progress and how they manifest clinically (heart failure, ATE). Existing diagnostic tests have strengths and limitations, and being aware of these can help a practitioner deliver optimal recommendations regarding referral. Conclusions: Several types of feline cardiomyopathies exist in both subclinical (mild to severe disease) and clinical (severe disease) phases. Heart failure and ATE are the most common clinical manifestations of severe cardiomyopathy and are therapeutic targets regardless of the type of cardiomyopathy. The long-term prognosis is often guarded or poor once overt clinical manifestations are present. Areas of uncertainty: Some cats with presumed cardiomyopathy do not have echocardiographic features that fit the classic cardiomyopathies (cardiomyopathy – nonspecific phenotype). Although no definitive treatment is usually available, understanding how cardiomyopathies evolve remains worthy of investigation.

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