Prevalence and clinical significance of red flags in patients with hypertrophic cardiomyopathy

Limongelli, Giuseppe; Monda, Emanuele; Tramonte, Stefania; Gragnano, Felice; Masarone, Daniele; Frisso, Giulia; Esposito, Augusto; Gravino, Rita; Ammendola, Ernesto; Salerno, Gemma; Rubino, Marta; Caiazza, Martina; Russo, Maria Giovanna; Calabrò, Paolo; Elliott, Perry; Pacileo, Giuseppe

doi:10.1016/j.ijcard.2019.06.073

Cited by 63 publications

(44 citation statements)

References 26 publications

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“…As most cardiovascular signs of FD develop from the third decade of life onwards, LVH in children and young adults is very unlikely to be caused by FD 66 . The probability of FD is also low in the presence of an autosomal dominant inheritance pattern (but not excluded in patients carrying simultaneously a sarcomeric cardiomyopathy variant) 67 …”

Section: Diagnosis Of Fabry Diseasementioning

confidence: 99%

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Linhart

Germain

Olivotto

et al. 2020

European J of Heart Fail

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109

119

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the-galactosidase A (GLA) gene that leads to reduced or undetectable-galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide and its deacylated form globotriaosylsphingosine in cells throughout the body. FD can be multisystemic with neurological, renal, cutaneous and cardiac involvement or be limited to the heart. Cardiac involvement is characterized by progressive cardiac hypertrophy, fibrosis, arrhythmias, heart failure and sudden cardiac death. The cardiac management of FD requires specific measures including enzyme replacement therapy or small pharmacological chaperones in patients carrying amenable pathogenic GLA gene variants and more general management of cardiac symptoms and complications. In this paper, we summarize current knowledge of FD-related heart disease and expert consensus recommendations for its management.

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Section: Diagnosis Of Fabry Diseasementioning

confidence: 99%

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Linhart

Germain

Olivotto

et al. 2020

European J of Heart Fail

Self Cite

109

119

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“…Hypertrophic cardiomyopathy (HCM) is a heart muscle disease characterized by left ventricular hypertrophy that is not solely explained by abnormal loading conditions (i.e., hypertension, valvular heart disease, congenital heart disease) [40,41]. In nearly half of cases, the disease is inherited as an autosomal dominant genetic trait caused by mutations in genes encoding sarcomeric proteins [42][43][44][45][46] and is characterized by an extremely interindividual variability in the phenotypic expression.…”

Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

Monda

Palmiero

Rubino

et al. 2020

IJMS

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Cardiomyopathies (CMPs) represent a diverse group of heart muscle diseases, grouped into specific morphological and functional phenotypes. CMPs are associated with mutations in sarcomeric and non-sarcomeric genes, with several suspected epigenetic and environmental mechanisms involved in determining penetrance and expressivity. The understanding of the underlying molecular mechanisms of myocardial diseases is fundamental to achieving a proper management and treatment of these disorders. Among these, inflammation seems to play an important role in the pathogenesis of CMPs. The aim of the present study is to review the current knowledge on the role of inflammation and the immune system activation in the pathogenesis of CMPs and to identify potential molecular targets for a tailored anti-inflammatory treatment.

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“…Here, we report a non-severe, familial case of non-obstructive HCM, associated with mild clinical features of NS, diagnosed by a multidisciplinary team of expert cardiologists and geneticists. Cardiac and non-cardiac red flags (RF) represent important diagnostic markers that permit to suspect a specific cause of cardiomyopathy and a distinction between sarcomeric and non-sarcomeric types [ 1 , 3 ], and genetic testing represents a necessary diagnostic tool for performing a definitive etiological diagnosis [ 15 , 16 , 17 , 18 ]. Indeed, the association between HCM and pulmonary stenosis and/or dysmorphisms should always raise suspicion of genetic syndromes, even in adults.…”

Section: Discussionmentioning

confidence: 99%

“…In 50–60% of cases, the disease is inherited as an autosomal dominant genetic trait caused by mutations in genes encoding sarcomeric proteins [ 1 ]. Nevertheless, a subgroup of cases is caused by mutations in non-sarcomeric genes or systemic disorders (i.e., genetic syndromes and storage, infiltrative, metabolic and neuromuscular disorders) causing cardiac hypertrophy [ 1 , 2 , 3 ]. Rasopathies, including Noonan syndrome (NS) and related disorders, are among the possible and most common causes of HCM in children and young adults.…”

Section: Introductionmentioning

confidence: 99%

Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy

Caiazza

Rubino

Monda

et al. 2020

Genes

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In this report, an atypical case of Noonan syndrome (NS) associated with sarcomeric hypertrophic cardiomyopathy (HCM) in a 33-year-old patient was described. Genetic testing revealed two different disease-causing mutations: a mutation in the PTPN11 gene, explaining NS, and a mutation in the MYBPC3 gene, known to be associated with HCM. This case exemplifies the challenge in achieving a definite etiological diagnosis in patients with HCM and the need to exclude other diseases mimicking this condition (genocopies or phenocopies). Compound heterozygous mutations are rare but possible in HCM patients. In conclusion, this study highlights the important role of genetic testing as a necessary diagnostic tool for performing a definitive etiological diagnosis of HCM.

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Prevalence and clinical significance of red flags in patients with hypertrophic cardiomyopathy

Cited by 63 publications

References 26 publications

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy

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