Genetic testing in hypertrophic cardiomyopathy (HCM) is a valuable tool to manage patients and their families. Genetic testing can help inform diagnosis and differentiate HCM from other disorders that also result in increased left ventricular wall thickness, thereby directly impacting treatment. Moreover, genetic testing can definitively identify at-risk relatives and focus family management. Pathogenic variants in sarcomere and sarcomere-related genes have been implicated in causing HCM, and targeted gene panel testing is recommended for patients once a clinical diagnosis has been established. If a pathogenic or likely pathogenic variant is identified in a patient with HCM, predictive genetic testing is recommended for their at-risk relatives to determine who is at risk and to guide longitudinal screening and risk stratification. However, there are important challenges and considerations to implementing genetic testing in clinical practice. Genetic testing results can have psychological and other implications for patients and their families, emphasising the importance of genetic counselling before and after genetic testing. Determining the clinical relevance of genetic testing results is also complex and requires expertise in understanding of human genetic variation and clinical manifestations of the disease. In this review, we discuss the genetics of HCM and how to integrate genetic testing in clinical practice.
As the coronavirus disease 2019 (COVID-19) pandemic ensues, it has posed a greater challenge in heart transplant recipients, a particularly vulnerable patient cohort. Transplant recipients are likely susceptible given the immunosuppressed state, presence of co-morbidities including hypertension, diabetes mellitus, and chronic kidney disease, and frequent contact with the healthcare system, leading to an overall increase in mortality. The attributable risk, however, is largely unknown. Preliminary reports suggest that the clinical course of COVID-19 may be similar in orthotopic heart transplant (OHT) and non-transplant patients. 1 Calcineurin inhibitors (CNIs) are the cornerstone treatment that block T-cell activation, effectively suppressing alloimmunity. In vitro studies have demonstrated that CNIs may inhibit viral replication of coronaviruses and hepatitis C, 2 whereas there have not been consistent data to support the same with the use of mycophenolate mofetil (MMF). 3,4 mTOR inhibitors may also suppress viral replication, and thus, clinical investigation is ongoing. 5 Although there may be inhibitory effects of these medications, lowering the dosage or withholding select immunosuppressive drugs in the early disease course may attenuate clinical expression of the disease depending on severity albeit with increased risk for rejection. The impact of change of immunosuppressive therapy needs to be further evaluated.
Overall, we aim to review BP targets and medical therapies for hypertension in the current era, recognizing varying clinical characteristics such as comorbidities and patient-risk profile.
Background: Acute left ventricular (LV) apical ballooning with normal coronary angiography occurs rarely in obstructive hypertrophic cardiomyopathy (OHCM); it may be associated with severe hemodynamic instability.
Methods, Results:We searched for acute LV ballooning with apical hypokinesia/akinesia in databases of two HCM treatment programs. Diagnosis of OHCM was made by conventional criteria of LV hypertrophy in the absence of a clinical cause for hypertrophy and mitral-septal contact. Among 1519 patients, we observed acute LV ballooning in 13 (0.9%), associated with dynamic left ventricular outflow tract (LVOT) obstruction and high gradients, 92 ± 37 mm Hg, 10 female (77%), age 64 ± 7 years, LVEF 31.6 ± 10%. Septal hypertrophy was mild compared to that of the rest of our HCM cohort, 15 vs 20 mm (P < 0.00001). An elongated anterior mitral leaflet or anteriorly displaced papillary muscles occurred in 77%. Course was complicated by cardiogenic shock and heart failure in 5, and refractory heart failure in 1. High-dose beta-blockade was the mainstay of therapy. Three patients required urgent surgical relief of LVOT obstruction, 2 for refractory cardiogenic shock, and one for refractory heart failure. In the three patients, surgery immediately normalized refractory severe LV dysfunction, and immediately reversed cardiogenic shock and heart failure. All have normal LV systolic function at 45-month follow-up, and all have survived.Conclusions: Acute LV apical ballooning, associated with high dynamic LVOT gradients, may punctuate the course of obstructive HCM. The syndrome is important to recognize on echocardiography because it may be associated with profound reversible LV decompensation. K E Y W O R D S hypertrophic cardiomyopathy, left ventricular outflow obstruction, left ventricular systolic dysfunction
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