Stable Rates of Obstructive Hypertrophic Cardiomyopathy in a Contemporary Era

Hypertrophic cardiomyopathy is the most common genetic heart disease in the US, with an estimated prevalence of 1 in 500. However, the extent to which obstructive hypertrophic cardiomyopathy is clinically recognized is not well-established. Therefore, the objective of this study was to estimate the annual prevalence of clinically diagnosed oHCM in the US from 2016 to 2018. Data from the MarketScan® database were queried from years 2016 to 2018 to identify patients with ≥1 claim of oHCM (International Statistical Classification of Disease and Related Health Problems diagnosis code: I42.1). Prevalence rates for oHCM were calculated and stratified by sex and age. In 2016, 4,612 unique patients had clinical diagnosis of oHCM, resulting in an estimated oHCM prevalence of 1.65 per 10,000. The prevalence of oHCM in males and females was 2.07 and 1.26, respectively. Prevalence of oHCM was highest in patients 55–64 years of age (4.82). Prevalence of oHCM generally increased with age, from 0.36 per 10,000 in those under 18 to 4.82 per 10,000 in those 55–65. Trends in prevalence of oHCM over time, including by sex and age group, remained similar and consistent in 2017 and 2018. The prevalence of oHCM was stable over the 3-year time period, including higher rates of oHCM in males and patients aged 55–64 years. These results suggest that the majority of privately insured patients with oHCM are undiagnosed in the US and reinforce the need for policies and research to improve the clinical identification of oHCM patients in the US.

A prospective longitudinal study of health-related quality of life and psychological wellbeing after an implantable cardioverter defibrillator in patients with genetic heart diseases

Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): NHMRC Project Grant National Heart Foundation Future Leader Fellowship OnBehalf Cardio Genomics Program Introduction Genetic heart diseases, often affecting young people, can be clinically heterogeneous and pose an increased risk of sudden cardiac death (SCD). The implantable cardioverter defibrillator (ICD) is a lifesaving therapy. Impact on prospective and long-term psychological and health-related quality of life (HR-QoL) after ICD implant in patients with genetic heart diseases is unknown. Purpose We aimed to investigate the psychological functioning and HR-QoL over time in patients with genetic heart diseases who receive an ICD and to identify risk factors for poor psychological functioning and HR-QoL. Methods A prospective longitudinal design was used. Patients diagnosed with a genetic heart disease for which they received an ICD, were eligible. Anxiety, depression, health-related quality of life and device acceptance were measured using validated questionnaires. Baseline surveys were completed prior to ICD implantation with five-year follow-up after ICD implant. Results Forty patients with an inherited cardiomyopathy or arrhythmia syndrome (mean age 46.3 ± 14.2 years; 65.0% males) were included. Mean psychological and HR-QoL measures were within normative ranges during follow-up. We observed significant overall improvements from baseline to first follow-up with variability increasing after 36 months. The presence of comorbidities predicted worse physical HR-QoL (p = 0.014). Other predictors were not statistically significant, although lower education and female gender seemed to be an interesting predictor for higher anxiety and less mental HR-QoL, and the presence of comorbidities for less physical HR-QoL. Conclusion While the majority of patients with a genetic heart disease adjust well to their ICD implant, a subset of patients experiences poor psychological and HR-QoL outcomes.

A Prospective Longitudinal Study of Health-Related Quality of Life and Psychological Wellbeing after an Implantable Cardioverter Defibrillator in Patients with Genetic Heart Diseases

ABSTRACTBackgroundGenetic heart diseases often affect young people, can be clinically heterogeneous and pose an increased risk of sudden cardiac death (SCD). The implantable cardioverter defibrillator (ICD) is a lifesaving therapy. Impacts on prospective and long-term psychological and health-related quality of life (HR-QoL) after ICD implant in patients with genetic heart diseases are unknown. We investigate the psychological functioning and HR-QoL over time in patients with genetic heart diseases who receive an ICD, and identify risk factors for poor psychological functioning and HR-QoL.MethodsA longitudinal, prospective study design was used. Patients attending a specialised clinic and diagnosed with a genetic heart disease, for which they received an ICD between May 2012 and January 2015, were eligible. Baseline surveys were completed prior to ICD implantation with five-year follow-up after ICD implant. We measured psychological functioning (Hospital Anxiety Depression Scale, Florida Shock Anxiety Scale), HR-QoL (Short-Form 36v2) and device acceptance (Florida Patient Acceptance Scale).ResultsThere were 40 patients with an inherited cardiomyopathy or arrhythmia syndrome included (mean age 46.3 ± 14.2 years; 65.0% males). Mean psychological and HR-QoL measures were within normative ranges during follow-up. After 12 months, 33.3% and 19.4% of participants showed clinically elevated levels of anxiety and depression, respectively. Longitudinal mixed effect analysis showed significant improvements from baseline to first follow-up for the overall cohort, with variability increasing after 36 months. Low education and female gender predicted worse mental HR-QoL and anxiety over time, while comorbidities predicted depression and worse physical HR-QoL.ConclusionWhile the majority of patients with a genetic heart disease adjust well to their ICD implant, a subset of patients’ experience poor psychological and HR-QoL outcomes.

A challenging case of arrhythmogenic right ventricular cardiomyopathy presenting as fulminant myocarditis

ABSTRACT Arrhythmogenic right ventricular cardiomyopathy (ARVC) is known as a primary genetic heart disease that leading to the myocardial deposition of fibrofatty tissue in right ventricular (RV) wall. Sometimes, it occurs in the left ventricular (LV) subepicardial wall. This study introduces a child referred to our hospital with influenza-like symptoms and ventricular tachyarrhythmia, followed by cardiac failure. However, in our subsequent evaluation, there was evidence of severe LV and RV dysfunction based on the echocardiography. Moreover, cardiac magnetic resonance showed not only the major criteria of ARVC but also those of Lake Luise seen in myocarditis. Regarding the deteriorating condition during the hospital course, he was later scheduled for heart transplantation. Finally, the histopathological study of explanted heart revealed RV myocyte atrophy with the infiltration of fibrofatty tissue in myocardium diagnostic of ARVC, resolving dilemma between ARVC and myocarditis.

Hypertrophic cardiomyopathy: a modern view of the problem

Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease, with a prevalence of approximately 1 in 500 among the adult cohort. It is a common etiological factor of sudden cardiac death in the young and a common cause of morbidity and mortality in all age groups. HCM is characterized by a complex pathophysiology, which is manifested by a heterogeneous clinical picture. The mechanism of development of this variant of hypertrophy is not fully understood. Currently, only a part of the genetic mutations that correlate with the development of this pathology has been identified. In this regard, the issue of genetic diagnosis of HCM is very relevant, as it will allow us to conduct advanced screening. A very important task is to develop a personalized approach in the conservative and surgical treatment of people suffering from this variant of cardiopathy.

Palpitation was associated with clinical outcomes in patients with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a common genetic heart disease with diversified clinical presentation and it is important to identify new predictors of clinical outcomes and survival in HCM patients. In our study, 206 HCM patients were compared with respect to major adverse cardiovascular and cerebrovascular events. By multivariable logistic analysis, we determined that palpitation, together with chronic heart failure (CHF) > 1 year, was an independent predictor of major adverse cardiovascular and cerebral events (MACCE) in HCM patients (OR 3.24, 95% CI 1.60–6.57, P = 0.001). Specially, palpitation was related to higher prevalence of rehospitalization (OR 3.86, 95% CI 2.08–7.08, P < 0.001), cardiac death (OR 2.96, 95% CI 1.05–8.32, P = 0.04) and heart failure exacerbation (OR 4.07, 95% CI 2.04–8.13, P < 0.001). However, patients presented with palpitation did not show a significantly different cardiac phenotype and function. Finally, palpitation predicted a poor prognosis in HCM patients without atrial fibrillation by utilizing Kaplan–Meier analysis (P = 0.041). In conclusion, palpitation could be a new predictor of clinical outcomes and overall survival in HCM patients.