Rare Diseases

Current bibliography for experts

"Left Ventricular Hypertrophy" search results...

FABRY

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

2023-06-10

This article reports a rare familial case of inherited cardiac Fabry disease (FD) associated with a novel double mutation in the GLA gene: W24R and N419D.

FABRY

Late-onset Fabry disease: The cardiac sequela

2022-06-09

This is the first detailed description of a late-onset phenotype of Fabry disease (FD) with c.146 G>C GLA variant. In addition, this case serves as a potent reminder to pay meticulous attention to 'red flags' accompanying left ventricular hypertrophy (LVH)

FABRY

Electrocardiographic Characteristics and Their Correlation with Echocardiographic Alterations in Fabry Disease

2022-01-22

The goal of this study was to look at electrocardiographic (ECG) characteristics in FD patients to see if there were any gender differences, as well as to see if ECG parameters were linked to structural and functional changes on transthoracic echocardiography (TTE).

MPS

Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy

2022-01-01

Adult patients with MPS may develop severe cardiovascular involvement, and clinicians should be aware of the need for careful monitoring and timely management of those potentially life-threatening complications.

FABRY

Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and MetaAnalysis

2022-01-01

This meta-analysis is performed according to previous studies to review the benefit of ERT for LVH improvement in Fabry patients. Based on the currently available data, this meta-analysis showed that there are beneficial effects on LVH improvement with ERT in Fabry disease patients.

FABRY

Value of Left Ventricular Feature Tracking Strain Analysis for Detection of Early Cardiac Involvement in Fabry Disease (FD)

2021-08-22

According to the findings of this study, strain abnormalities occur early beside native T1 reductions in cardiac FD involvement.

FABRY

Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy

2021-04-01

In this paper, the case of a 40-year-old male FD patient with left ventricular hypertrophy is described.

FABRY

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

2021-02-23

The diagnosis and staging of FD-related cardiac diseases have improved thanks to advances in imaging techniques, suggesting that myocardial inflammation plays a significant role in the development of the disease.

FABRY

Diagnosis and Screening of Patients with Fabry Disease

2020-06-22

The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

FABRY

Fabry disease: Genetics, pathology, and treatment

2020-01-13

Genetic analysis in search of mutation for Fabry Disease is the gold standard for diagnosis, in addition to family history. It is considered that specialized treatment should begin as soon as a diagnosis is made, as this can change the disease prognosis.

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