Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

OBJECTIVE: Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is limited. We sought to investigate the relationship between rare variants in TRIM63 and the development of HCM. METHODS: TRIM63 was sequenced by next generation sequencing in 4867 index cases with a clinical diagnosis of HCM and in 3628 probands with other cardiomyopathies. Additionally, 3136 index cases with familial cardiovascular diseases other than cardiomyopathy (mainly channelopathies and aortic diseases) were used as controls. RESULTS: Sixteen index cases with rare homozygous or compound heterozygous variants in TRIM63 (15 HCM and one restrictive cardiomyopathy) were included. No homozygous or compound heterozygous were identified in the control population. Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy. The mean age at diagnosis was 35 years (range 15-69). Fifty per cent of patients had concentric left ventricular hypertrophy (LVH) and 45% were asymptomatic at the moment of the first examination. Significant degrees of late gadolinium enhancement were detected in 80% of affected individuals, and 20% of patients had left ventricular (LV) systolic dysfunction. Fifty per cent had non-sustained ventricular tachycardia. Twenty per cent of patients suffered an adverse cerebrovascular event (20%). CONCLUSION: TRIM63 appears to be an uncommon cause of HCM inherited in an autosomal-recessive manner and associated with concentric LVH and a high rate of LV dysfunction.

Infarto anterior y anomalía coronaria: una rara asociación / Anterior infarction and coronary artery anomaly: a rare association

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[Influence of age in short and long term prognostic of ischemic cardiogenic shock]. / Influencia de la edad en el pronóstico a corto y largo plazo del choque cardiogénico de origen isquémico.

OBJECTIVE: To compare the prognosis during hospitalization and maximum follow-up of 4 years in patients with myocardial infarction complicated with cardiogenic shock. METHOD: Prospective observational study practiced in a coronary Care Unit managed by cardiologists. We included patients with myocardial infarction complicated with cardiogenic shock who received early coronary revascularization. Patients were divided into two groups: older than 75 years (group A) and lower (group B), and we compared the evolution during hospitalization and maximum follow-up of 4 years. Primary end point was mortality rate in the maximum follow-up of 4years. Secondary end point was mortality rate during hospitalization. RESULTS: Ninety-seven patients were included, 45% Group A. Patients of Group B were mostly men (81% vs. 57%; P=.014), diabetics (48% vs. 21%; P=0.006), and smokers (39.6% vs. 5%). Mortality rate during hospitalization was higher in Group A (54.5%) vs. 30.2% in Group B (P=.022). Mortality rate during follow-up (primary variable) was 73% in Group A vs. 38% in Group B (P=.007). CONCLUSIONS: Myocardial infarction complicated with cardiogenic shock in elderly patients is an entity with high mortality during hospitalization and continues to worsen during long term follow-up.

Influencia de la edad en el pronóstico a corto y largo plazo del choque cardiogénico de origen isquémico / Influence of age in short and long term prognostic of ischemic cardiogenic shock

Objetivo: Comparar la evolución durante el ingreso y a largo plazo de pacientes con choque cardiogénico de origen isquémico. Método: Estudio observacional prospectivo unicéntrico llevado a cabo en la unidad coronaria de un hospital terciario manejada por cardiólogos. Se incluyen pacientes con choque cardiogénico de origen isquémico que recibieron revascularización coronaria precoz. Dividimos a los pacientes en 2 grupos: mayores de 75 anos (grupo A) y menores (grupo B), y comparamos la evolución durante el ingreso y en un seguimiento máximo de 4 años. El objetivo principal fue estimar la mortalidad a los 4 años. El objetivo secundario se definió como la mortalidad intrahospitalaria. Resultados: Incluimos a 97 pacientes, 44 del grupo A (45%). Los pacientes del grupo B eran con más frecuencia varones (81 vs. 57%, p = 0.014), diabéticos (49 vs. 21%, p: 0.006) y fumadores (39.6 vs. 4.5%, p < 0.05). La mortalidad hospitalaria fue superior en el grupo A (54.5 vs. 30.2%, p = 0.022). El objetivo principal ocurrió en 32 pacientes del grupo A frente a 20 del grupo B (73 vs. 38%, p = 0.007). Conclusión: El choque cardiogénico de origen isquémico en paciente mayores de 75 anos presenta una alta mortalidad durante la estancia hospitalaria y en el seguimiento a largo plazo.

Objective: To compare the prognosis during hospitalization and maximum follow-up of 4 years in patients with myocardial infarction complicated with cardiogenic shock. Method: Prospective observational study practiced in a coronary Care Unit managed by cardiologists. We included patients with myocardial infarction complicated with cardiogenic shock who received early coronary revascularization. Patients were divided into two groups: older than 75 years (group A) and lower (group B), and we compared the evolution during hospitalization and maximum follow-up of 4 years. Primary end point was mortality rate in the maximum follow-up of 4years. Secondary end point was mortality rate during hospitalization. Results: Ninety-seven patients were included, 45% Group A. Patients of Group B were mostly men (81% vs. 57%; P =.014), diabetics (48% vs. 21%; P = 0.006), and smokers (39.6% vs. 5%). Mortality rate during hospitalization was higher in Group A (54.5%) vs. 30.2% in Group B(P = .022). Mortality rate during follow-up (primary variable) was 73% in Group A vs. 38% in Group B (P =.007). Conclusions: Myocardial infarction complicated with cardiogenic shock in elderly patients is an entity with high mortality during hospitalization and continues to worsen during long term follow-up.

Impacto de perdigón sobre el corazón: dos casos consecutivos tratados en forma conservadora / Conservative Management of Projectile Impact on the Heart: Two Consecutive Cases / Conservative Management of Projectile Impact on the Heart: Two Consecutive Cases

Esporádicamente se presentan en la práctica clínica casos de heridas por arma de fuego que afectan el corazón, el pericardio y los grandes vasos. En el caso concreto de España, la afición a la caza hace que se atiendan pacientes con impacto de perdigones por accidente. El tratamiento de este tipo de traumatismo no está estandarizado, debido fundamentalmente a los pocos afectados tratados en cada centro particular. En esta presentación se describen dos casos consecutivos atendidos en nuestra institución por impacto de perdigón sobre estructuras cardíacas y cuya evolución fue satisfactoria con tratamiento conservador.

Cardiac shotgun injuries affecting the heart, pericardium and great vessels are occasionally encountered in clinical practice. Specifically in Spain, pellet wounds from hunting accidents have increased. The treatment of these injuries is not standardized due to the small number of cases attended in each particular center. We present two consecutive cases of cardiac pellet-gun related injuries treated in our institution with a conservative approach, with favorable outcomes.

Impacto de perdigón sobre el corazón: dos casos consecutivos tratados en forma conservadora / Conservative Management of Projectile Impact on the Heart: Two Consecutive Cases / Conservative Management of Projectile Impact on the Heart: Two Consecutive Cases

Esporádicamente se presentan en la práctica clínica casos de heridas por arma de fuego que afectan el corazón, el pericardio y los grandes vasos. En el caso concreto de España, la afición a la caza hace que se atiendan pacientes con impacto de perdigones por accidente. El tratamiento de este tipo de traumatismo no está estandarizado, debido fundamentalmente a los pocos afectados tratados en cada centro particular. En esta presentación se describen dos casos consecutivos atendidos en nuestra institución por impacto de perdigón sobre estructuras cardíacas y cuya evolución fue satisfactoria con tratamiento conservador.(AU)

Cardiac shotgun injuries affecting the heart, pericardium and great vessels are occasionally encountered in clinical practice. Specifically in Spain, pellet wounds from hunting accidents have increased. The treatment of these injuries is not standardized due to the small number of cases attended in each particular center. We present two consecutive cases of cardiac pellet-gun related injuries treated in our institution with a conservative approach, with favorable outcomes.(AU)