Aims: Genetic scientific knowledge is growing rapidly but how this affects clinical practice is unclear. We investigated the levels of knowledge, practical skills and clinical genetic practices of Dutch cardiologists.
Methods And Results: A survey was designed to assess cardiologists' experience with genetic aspects of hypertrophic cardiomyopathy, self-reported genetic knowledge, and genetic skills in general and aimed at this disease. In addition, cardiologists' opinions on five possible measures for improvement were obtained.
Study Population: all Dutch cardiologists (n=643). Median number of patients suffering from hypertrophic cardiomyopathy per cardiologist is five. Forty-one percent of respondents do not give information about genetics to all their patients. Cardiologists rarely initiate DNA tests for hypertrophic cardiomyopathy. Only 38% refer patients to clinical geneticists. Self-reported knowledge levels are low (average score 3.3-5.1, 0-10 scale). Cardiologists with an established working relationship with a clinical geneticist report significantly higher levels of knowledge. Clinical guidelines, education and improved collaboration with clinical geneticists are preferred.
Conclusion: Dutch cardiologists' genetic knowledge and clinical genetic practice levels are insufficient. As a result, clinical genetic care for patients with hypertrophic cardiomyopathy is poor. Improvements proposed include advancement of knowledge (education, professional guidelines) and structural measures (working relationships, multidisciplinary outpatient clinics). Collaboration of cardiologists and clinical geneticists is urgently needed to optimise cardiogenetic patient care.
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http://dx.doi.org/10.1016/s0195-668x(02)00522-5 | DOI Listing |
Prog Mol Biol Transl Sci
January 2025
Department of Microbiology, Gargi College, University of Delhi, New Delhi, India. Electronic address:
The CRISPR-Cas system has emerged as a revolutionary tool in genetic research, enabling highly precise gene editing and significantly advancing the field of cardiovascular science. This chapter provides a comprehensive overview of the latest developments in utilizing CRISPR-Cas technologies to investigate and treat heart diseases. It delves into the application of CRISPR-Cas9 for creating accurate models of complex cardiac conditions, such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and various arrhythmias, which are essential for understanding disease mechanisms and testing potential therapies.
View Article and Find Full Text PDFNeuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFJACC Case Rep
January 2025
Department of Cardiovascular Disease, Mayo Clinic, Rochester, Minnesota, USA.
Left ventricular outflow tract (LVOT) obstruction is mostly caused by hypertrophic obstructive cardiomyopathy and subaortic stenosis. Rarely, malignancy can lead to dynamic LVOT obstruction and has only been sporadically documented. We present the first case of dynamic and/or nearly fixed LVOT obstruction caused by a cardiac myxoid spindle cell sarcoma.
View Article and Find Full Text PDFJACC Case Rep
January 2025
Department of Cardiovascular Medicine, Richmond Heart & Vascular Associates, Richmond, Virginia, USA.
Transcatheter edge-to-edge repair (TEER) is approved for patients with symptomatic severe mitral regurgitation (MR) who are deemed inoperable or at high surgical risk with life expectancy of more than 1 year, but has also been used off-label in patients with hypertrophic obstructive cardiomyopathy (HOCM) for symptomatic relief who are not candidates for septal reduction therapy. An 83-year-old woman with decompensated heart failure was found to have HOCM with systolic anterior motion of the mitral valve and a large P2 flail segment with ruptured cords. TEER was performed resulting in mild MR and resolution of the prior left ventricular outflow tract gradient.
View Article and Find Full Text PDFReports (MDPI)
December 2024
Division of Cardiology, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Unlabelled: The combination of hypertrophic cardiomyopathy with outflow tract obstruction, severe pre-capillary and post-capillary pulmonary hypertension, and severe primary mitral regurgitation is rare and presents distinct management challenges.
Background And Clinical Significance: Pulmonary hypertension is an independent predictor of all-cause mortality in patients with hypertrophic cardiomyopathy managed medically and often precludes patients from undergoing cardiopulmonary bypass due to increased surgical morbidity and mortality. In studies specifically evaluating surgical myectomy, however, survival is favorable in patients with moderate-to-severe pulmonary hypertension.
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