Primary hypertrophic cardiomyopathy is a relatively frequent disease (1/500) which results from a mutation in a gene encoding a sarcomeric protein. In a series of 184 cases, nearly half (46 %) were secondary to a mutation in one of the 4 following genes : MYBPC3, MYH7, TNNI3, TNNT2. In Fabry disease, an exclusive or nearly exclusive cardiac expression is possible and referred to as "cardiac variant". The hypertrophic cardiomyopathy of Fabry disease is usually unspecific. Two series reported a prevalence of Fabry disease of about 6% among male cases. An Italian series of 34 female cases with hypertrophic cardiomyopathy demonstrated that it was feasible to diagnose Fabry disease in females by screening for specific lesions in myocardial biopsies. We detected a patient who initially presented with a common hypertrophic cardiomyopathy except that his ECG showed depression of ST segment and inversion of T wave in leads D1, VL and in precordial leads. The family history revealed several affected relatives and female carriers. In conclusion, an isolated common hypertrophic cardiomyopathy may be secondary to Fabry disease. Male patients should be screened systemically for enzyme defect except in cases of father-to-son transmission. In females, an affected male relative should be searched for screening or the GLA gene should be sequenced. It is important to think about a putative Fabry disease in cases with hypertrophic cardiomyopathy not associated with any obvious cause.
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http://dx.doi.org/10.1016/S0248-8663(10)70019-9 | DOI Listing |
R I Med J (2013)
February 2025
Brown University Health Cardiovascular Institute; Rhode Island, the Miriam and Newport Hospitals; Warren Alpert Medical School, Brown University.
Cardiac magnetic resonance imaging (CMR) is an exciting noninvasive imaging modality with increasing utilization in the field of cardiovascular medicine. In conjunction with echocardiogram, computed tomography, and invasive therapies, CMR has provided exceptional capability to further evaluate complex clinical cardiac conditions. CMR provides both anatomical and physiological information of a variety of tissue types, without the need for ionizing radiation.
View Article and Find Full Text PDFCirc Cardiovasc Imaging
January 2025
Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, Milan, Italy (L.T., G.D., M.L., A.C.).
Echocardiography
February 2025
Department of Cardiology, Loyola University Medical Center, Maywood, Illinois, USA.
The left atrium (LA) is pivotal in cardiac hemodynamics, serving as a dynamic indicator of left ventricular (LV) compliance and diastolic function. The LA undergoes structural and functional adaptations in response to hemodynamic stress, infiltrative processes, myocardial injury, and arrhythmic triggers. Remodeling of the LA in response to these stressors directly impacts pulmonary circulation, eventually leading to pulmonary capillary involvement, pulmonary artery hypertension, and eventually right ventricular failure.
View Article and Find Full Text PDFEur Heart J Cardiovasc Imaging
January 2025
Heart Institute. Department of Cardiology. Cardiovascular Imaging Unit. Hospital Universitari Germans Trias i Pujol, Barcelona, Spain.
Aims: How the underlying etiology and pathophysiology of left ventricular (LV) hypertrophy affects LA remodeling and function remains unexplored. The present study aims to investigate the influence of various hypertrophic phenotypes on LA remodeling and function.
Methods And Results: Patients with LV hypertrophy who underwent cardiac magnetic resonance (CMR) were compared to a control group.
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