Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry.

AIMS: To describe the natural history of SARS-CoV-2 infection in patients with hypertrophic cardiomyopathy (HCM) compared with a control group and to identify predictors of adverse events. METHODS AND RESULTS: Three hundred and five patients [age 56.6 ± 16.9 years old, 191 (62.6%) male patients] with HCM and SARS-Cov-2 infection were enrolled. The control group consisted of 91 131 infected individuals. Endpoints were (i) SARS-CoV-2 related mortality and (ii) severe clinical course [death or intensive care unit (ICU) admission]. New onset of atrial fibrillation, ventricular arrhythmias, shock, stroke, and cardiac arrest were also recorded. Sixty-nine (22.9%) HCM patients were hospitalized for non-ICU level care, and 21 (7.0%) required ICU care. Seventeen (5.6%) died: eight (2.6%) of respiratory failure, four (1.3%) of heart failure, two (0.7%) suddenly, and three (1.0%) due to other SARS-CoV-2-related complications. Covariates associated with mortality in the multivariable were age {odds ratio (OR) per 10 year increase 2.25 [95% confidence interval (CI): 1.12-4.51], P = 0.0229}, baseline New York Heart Association class [OR per one-unit increase 4.01 (95%CI: 1.75-9.20), P = 0.0011], presence of left ventricular outflow tract obstruction [OR 5.59 (95%CI: 1.16-26.92), P = 0.0317], and left ventricular systolic impairment [OR 7.72 (95%CI: 1.20-49.79), P = 0.0316]. Controlling for age and sex and comparing HCM patients with a community-based SARS-CoV-2 cohort, the presence of HCM was associated with a borderline significant increased risk of mortality OR 1.70 (95%CI: 0.98-2.91, P = 0.0600). CONCLUSIONS: Over one-fourth of HCM patients infected with SARS-Cov-2 required hospitalization, including 6% in an ICU setting. Age and cardiac features related to HCM, including baseline functional class, left ventricular outflow tract obstruction, and systolic impairment, conveyed increased risk of mortality.

Characterization of hereditary transthyretin cardiac amyloidosis in Spain.

INTRODUCTION AND OBJECTIVES: Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort. METHODS: Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers. We collected demographic, clinical, and genetic data. RESULTS: A total of 181 patients from 26 centers were included (65.2% men, with a median age at diagnosis of 62 years). The most frequent mutations were Val50Met (67.7%) and Val142Ile (12.4%). The main reason for consultation was extracardiac symptoms (69%), mainly neurological. The mean N-terminal pro-B-type natriuretic peptide level was 2145±3586 pg/mL. The most characteristic electrocardiogram findings were a pseudoinfarct pattern (25.9%) and atrioventricular block (25.3%). Mean ventricular thickness was 15.4±4.1mm. Longitudinal strain was reduced in basal segments by 29.4%. Late diffuse subendocardial enhancement was observed in 58.8%. Perugini grade 2 or 3 uptake was observed in 75% of scintigraphy scans. During follow-up, 24.9% of the patients were admitted for heart failure, 34.3% required a pacemaker, and 31.6% required a liver transplant. One third (32.5%) died during follow-up, mainly due to heart failure (28.8%). The presence of non-Val50Met mutations was associated with a worse prognosis. CONCLUSIONS: HATTR cardiac amyloidosis in Spain shows heterogeneous genetic and clinical involvement. The prognosis is poor, mainly due to cardiac complications. Consequently early diagnosis and treatment are vital.

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.

INTRODUCTION AND OBJECTIVES: Danon disease (DD) is caused by mutations in the LAMP2 gene. It is considered a multisystemic disease characterized by hypertrophic cardiomyopathy with pre-excitation and extreme hypertrophy, intellectual disability, myopathy, childhood presentation, and worse prognosis in men. There are scarce data on the clinical characteristics and prognosis of DD. METHODS: We analyzed the clinical records of patients with DD from 10 Spanish hospitals. RESULTS: Twenty-seven patients were included (mean age, 31 ± 19 years; 78% women). Male patients showed a high prevalence of extracardiac manifestations: myopathy (80%), learning disorders (83%), and visual alterations (60%), which were uncommon findings in women (5%, 0%, and 27%, respectively). Although hypertrophic cardiomyopathy was the most common form of heart disease (61%), the mean maximum wall thickness was 15 ± 7 mm and dilated cardiomyopathy was present in 12 patients (10 women). Pre-excitation was found in only 11 patients (49%). Age at presentation was older than 20 years in 16 patients (65%). After a median follow-up of 4 years (interquartile range, 2-9), 4 men (67%) and 9 women (43%) died or required a transplant. Cardiac disease and adverse events occurred later in women (37 ± 9 vs 23 ± 16 and 36 ± 20 vs 20 ± 11 years, respectively). CONCLUSIONS: The clinical characteristics of DD differ substantially from traditional descriptions: age at presentation of DD is older, the disease is not multisystemic in women, and pre-excitation is infrequent.

Unidad de Valoración del Riesgo de Muerte Súbita Familiar: Experiencia en la comunidad valenciana / Family Sudden Death Risk-Assessment Unit: Experience at the Valencian Community

La muerte súbita se define como el fallecimiento inesperado que acontece antes de una hora desde el inicio de los síntomas, este tipo de muerte tiene un alto impacto social, mediático y económico. La primera causa es la de origen cardíaco y dentro de estas la cardiopatía isquémica es la más frecuente, pero las cardiopatías familiares (canalopatías y miocardiopatías) son porcentualmente más importantes en niños y jóvenes, donde representan la primera causa de muerte súbita cardíaca. Estas cardiopatías familiares tienen un claro sustrato genético que justifica la indicación de un adecuado estudio de los familiares de los fallecidos. De acuerdo a los datos de la población española del censo de 2013 (46,7 millones de habitantes) en la comunidad valenciana, que representa el 10% de esta población, se estima que residen 20000 personas con alguna cardiopatía familiar potencialmente letal. Dada la importancia y el impacto social de la muerte súbita de origen cardíaco, y puesto que la autopsia médico-legal tiene limitaciones para diagnosticar la enfermedad subyacente en este tipo de muertes, la estrategia más oportuna es el enfoque multidisciplinar, motivo por el cual en el año 2008 se creó la Unidad de Muerte Súbita Familiar y Cardiopatías Familiares en esta región

The sudden death is defined as the unexpected death that occurs within an hour of the onset of symptoms. This type of death has a high social, media and economic impact. The first cause is of cardiac origin, and within this, the ischemic heart disease is the most frequent, but family heart diseases (channelopathies and cardiomyopathies) are more important in children and young people, where they represent the first cause of sudden cardiac death. These family heart diseases have a clear genetic substrate that justifies the indication of an adequate study of the relatives of the deceased. According to the data of the Spanish population of the 2013 census (46.7 million inhabitants) in the Valencian Community, which represents 10% of this population, it is estimated that there are 20.000 people with some potentially lethal heart disease. Given the importance and the social impact of sudden death of cardiac origin, and since the medical-legal autopsy has limitations to diagnose the underlying disease in these types of deaths, the most opportune strategy is the multidisciplinary approach, which is why in 2008, the Family Sudden Death and Family Heart Diseases Unit was created in this region

Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms.

The term inherited cardiovascular disease encompasses a group of cardiovascular diseases (cardiomyopathies, channelopathies, certain aortic diseases, and other syndromes) with a number of common characteristics: they have a genetic basis, a familial presentation, a heterogeneous clinical course, and, finally, can all be associated with sudden cardiac death. The present document summarizes some important concepts related to recent advances in sequencing techniques and understanding of the genetic bases of these diseases. We propose diagnostic algorithms and clinical practice recommendations and discuss controversial aspects of current clinical interest. We highlight the role of multidisciplinary referral units in the diagnosis and treatment of these conditions.

Phenotypic patterns of right ventricular dysfunction: analysis by cardiac magnetic imaging.

The aim of this study was to use magnetic resonance imaging (MRI) to classify the morphological changes and remodeling of the right ventricle (RV) that occur in different clinical situations and that have an impact on RV function. Most literature has traditionally focused on the left ventricle (LV) and as a result, few studies analyze RV behavior and remodeling. The study evaluated all cardiac MRI performed at our center from 2008 to 2010. We retrospectively identified 159 patients who had some sign of right ventricular dysfunction (RVD) based on MRI findings. We classified patients according to a combination of criteria for RVD and the presence of left ventricle dysfunction (LVD). We considered RVD as any of the following abnormalities: i) depressed RV function; ii) RV dilatation; iii) RV hypertrophy. LVD was considered when there was atrial dilatation, LV hypertrophy, LV dilatation and/or depressed LV function. We obtained 6 pathophysiological patterns: RV pressure overload (1.9%), RV volume overload (15.7%), RV volume overload + LVD (32.7%), depressed RV function + LVD (42.1%), mixed RV overload + LVD (6.9%) and other (0.6%). The most frequent etiology was congenital heart disease (33.3%), followed by idiopathic dilated cardiomyopathy (18.2%), left valvular disease (17.6%), ischemic heart disease (15%), pulmonary disease (9.8%), and other (6.1%). This study helps to classify the different patterns that RV can adopt in different clinical situations and can, therefore, help us to understand the RV pathophysiology.

Reversal of protein-losing enteropathy after heart transplantation in young patients.

Protein-losing enteropathy is a rare but life-threatening complication that occurs in some patients who develop intestinal lymphangiectasis secondary to increased systemic venous pressure. Although different forms of treatment have been tried, with varying results, the majority were reported to be unsuccessful. The aim of this study was to demonstrate that heart transplantation may be an appropriate therapeutic option for patients who do not respond to medical treatment. At our center, we performed heart transplantations in three patients with this condition. The mean follow-up period was 11+/-2 months. No patient died and the enteropathy regressed in all three.