Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy
Differential diagnosis of genetic causes of left ventricular hypertrophy (LVH) is crucial for disease-specific therapy. We aim to describe the prevalence of Cardiac Amyloidosis (CA) among patients ≥40 years with an initial diagnosis of HCM referred for second opinion to national cardiomyopathy centres.
AbstractCurrent echocardiography techniques have allowed more precise assessment of cardiac structure and function of the several types of cardiomyopathies. Parameters derived from echocardiographic tissue imaging (ETI) —tissue Doppler, strain, strain rate, and others—are extensively used to provide a framework in the evaluation and management of cardiomyopathies. Generally, myocardial function assessed by ETI is depressed in all types of cardiomyopathies, non-ischemic dilated cardiomyopathy (DCM) in particular . In hypertrophic cardiomyopathy (HCM), ETI is useful to identify subclinical disease in family membe...
In this issue of the International Journal of Cardiology, Dr. Maurizi and colleagues report on the higher than expected prevalence of cardiac amyloidosis in patients undergoing evaluation for hypertrophic cardiomyopathy (HCM) in a tertiary referral center . This carefully performed analysis highlights the clinical overlap of cardiac amyloidosis in a substantial percentage (a total of 9%) of patients who display a phenotype of hypertrophic cardiomyopathy and emphasizes the need to consider cardiac amyloidosis in any patient with ventricular hypertrophy without obvious inciting factor or known hypertrophic mutation.
PMID: 31684748 [PubMed - as supplied by publisher]
In an era of rapid technological development and evolving diagnostic possibilities, the electrocardiogram (ECG) is living an authentic “renaissance” in myocardial diseases. To date, the ECG remains an irreplaceable first step when evaluating patients with hypertrophic cardiomyopathy (HCM) and an abnormal ECG may be the only manifestation of disease at an early stage. In some instances specific electrical anomalies may different iate HCM from phenocopies such as cardiac amyloidosis and glycogen storage diseases.
Conclusions: 11C-PIB PET/MR may be valuable in the noninvasive diagnosis of CA. Further study with a larger cohort of patients would be needed to confirm it.
ConclusionsHere we report the case of a patient with hereditary cardiac amyloidosis associated with a Pro24Ser mutation in transthyretin, which is the first case reported in Japan. Technetium pyrophosphate scintigraphy was extremely useful for definitive diagnosis. Thus, we propose that the nuclear imaging technique should be taken into account even for an exploratory diagnosis of transthyretin cardiac amyloidosis.
Publication date: September 2018Source: Clinica Chimica Acta, Volume 484Author(s): Akiomi Yoshihisa, Takatoyo Kiko, Takamasa Sato, Masayoshi Oikawa, Atsushi Kobayashi, Yasuchika TakeishiAbstractThe differential diagnosis of cardiomyopathy is important. It has been recently reported that urinary titin N (U-TN) is increased in patients with muscular dystrophy (MD), and is associated with muscular damage. We aimed to clarify whether U-TN is useful as a diagnostic tool for distinguishing MD from various cardiomyopathies [e.g. dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM)]. We measured and compared the U-TN/cr...
Abstract The differential diagnosis of cardiomyopathy is important. It has been recently reported that urinary titin N (U-TN) is increased in patients with muscular dystrophy (MD), and is associated with muscular damage. We aimed to clarify whether U-TN is useful as a diagnostic tool for distinguishing MD from various cardiomyopathies [e.g. dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM)]. We measured and compared the U-TN/creatinine ratio (U-TN/Cr; pmol/mg/dl) in 278 control subjects and 331 patients with various cardiomyopathies (DCM, n = 199; sarcoidosis, n = 18; HCM, n = 86; amyloid...