Acute coronay syndrome in a patient with severe hemophilia A: Dificult decisions.

Hemophilia A is an inherited coagulation disease characterized by factor VIII (FVIII) deficiency and is associated with high hemorrhagic risk, especially in its severe forms. As the average life expectancy of patients with hemophilia has increased, so has the prevalence of acute coronary events. There is however limited experience in dealing with them. The strategy of acting on acute coronary events in patients with hemophilia, as demonstrated in the present case, is a real challenge, not only due to the need for antiplatelet therapy (which is essential in the prevention of stent thrombosis, but increases hemorrhagic risk), but also due to the lack of specific recommendations related to the most adequate and safe replacement therapy in these situations. The authors describe the case of a 48-year-old man with unstable angina and a previous diagnosis of severe hemophilia A who underwent percutaneous coronary intervention under FVIII therapy without hemorrhagic complications.

Heart and brain interactions in heart failure: Cognition, depression, anxiety, and related outcomes.

BACKGROUND: Cognitive impairment, anxiety and depression are common in heart failure (HF) patients and its evolution is not fully understood. OBJECTIVES: To assess the cognitive status of HF patients over time, its relation to anxiety and depression, and its prognostic impact. METHODS: Prospective, longitudinal, single center study including patients enrolled in a structured program for follow-up after hospital admission for HF decompensation. Cognitive function, anxiety/depression state, HF-related quality of life (QoL) were assessed before discharge and during follow-up (between 6th and 12th month) using Montreal Cognitive Assessment (MoCA), Hospital Anxiety and Depression Scale (HADS) and Kansas City Cardiomyopathy Questionnaire, respectively. HF related outcomes were all cause readmissions, HF readmissions and the composite endpoint of all-cause readmissions or death. RESULTS: 43 patients included (67±11.3 years, 69% male); followed-up for 8.2±2.1 months. 25.6% had an abnormal MoCA score that remained stable during follow-up (22.6±4.2 vs. 22.2±5.5; p=NS). MoCA score <22 at discharge conferred a sixfold greater risk of HF readmission [HR=6.42 (1.26-32.61); p=0.025], also predicting all-cause readmissions [HR=4.00 (1.15-13.95); p=0.03] and death or all-cause readmissions [HR=4.63 (1.37-15.67); p=0.014]. Patients with higher MoCA score showed a greater ability to deal with their disease (p=0.038). At discharge, 14% and 18.6% had an abnormal HADS score for depression and anxiety, respectively, which remained stable during follow-up and was not related to MoCA. CONCLUSIONS: Cognitive function, anxiety and depressive status remain stable in HF patients despite optimized HF therapy. Cognitive status shall be routinely screened to adopt attitudes that improve management as it has an impact on HF-related QoL and prognosis.

Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes.

The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defects. Some mutations, associated with lipodystrophy but not cardiomyopathy, have been linked to metabolic abnormalities such as diabetes and severe dyslipidemia. Herein we describe a new phenotype associated with a mutation in exon 11 of the LMNA gene: hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes. A 64-year-old woman with hypertrophic cardiomyopathy and a point mutation in exon 11 of the LMNA gene (c.1718C>T, Ser573Leu) presented with severe symptomatic ventricular hypertrophy and left ventricular outflow tract obstruction. She underwent septal alcohol ablation, followed by Morrow myectomy. The patient was also diagnosed with severe dyslipidemia, diabetes and obesity, and fulfilled diagnostic criteria for metabolic syndrome. No other characteristics of LMNA mutation-related phenotypes were identified. The development of type III atrioventricular block with no apparent cause, and mildly depressed systolic function, prompted referral for cardiac resynchronization therapy. In conclusion, the association between LMNA mutations and different phenotypes is complex and not fully understood, and can present with a broad spectrum of severity.