Restrictive cardiomyopathy in a patient with systemic sclerosis and Fabry disease: a case-based review.

Systemic sclerosis (SSc) is a rare immune-mediated vasculopathy characterized by fibrosis of the skin and internal organs. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene producing α-galactosidase-A enzyme (α-Gal A) deficiency. Being a systemic disease, cardiac involvement in FD has a high mortality rate due to heart failure and arrhythmia. The coexistence of these two entities has not been reported previously. We describe the case of a female patient with limited SSc (lcSSc), a diagnosis based on the presence of sclerodactyly, Raynaud phenomenon, microvascular involvement, and positive anti-centromere antibodies. On follow-up, she developed chest pain, a second-degree A-V block, and restrictive cardiomyopathy (without cardiovascular risk factors). Although heart involvement is common in these two entities, the abnormal thickening of lateral and inferior wall, the infiltration pattern and the conduction system disorders presented herein are more characteristic in a heterozygous female with a cardiac variant of FD. The diagnosis of FD was confirmed with high globotriaosylsphingosine (Lyso-Gb3) levels and identification of GLA gene mutation. The patient was treated with enzymatic replacement (agalsidase alpha) following mild improvement in ventricular mass at 6th month, without clinical deterioration. The related literature on SSc associated with FD is also reviewed.

Puentes miocárdicos como causa de infarto agudo del miocardio Reporte de una serie de once casos y revisión de la literatura / Myocardial bridges as a cause of acute myocardial infarction Report of a series of eleven cases and literature review

Los puentes miocárdicos son una condición congénita, con una frecuencia variable. Han sido considerados como variante anatómica, hasta causantes de isquemia, infarto agudo del miocardio y muerte súbita. Los mecanismos involucrados guardan relación con la compresión sistólica de la arteria, el retardo en la recuperación de su diámetro en diástole y la alteración en el perfil de las velocidades y el flujo coronario. El abordaje diagnóstico aún considera la angiografía coronaria, pero cada vez se acepta un rol mayor del ultrasonido intravascular y el doppler intracoronario. El tratamiento farmacológico es la primera opción, aunque en pacientes seleccionados con angina refractaria o falla a la terapia médica se podría considerar la revascularización percutánea y/o quirúrgica. A continuación se presenta una serie de once pacientes en quienes se documentaron puentes miocárdicos como parte del estudio diagnóstico en el contexto de un síndrome coronario agudo (infarto agudo del miocardio sin elevación del ST), y se discute su relación como agente causal y las opciones terapéuticas disponibles.

The myocardial bridges are a congenital condition, with a variable frequency. These have been considered from an anatomical variant up to the cause of ischemia, acute myocardial infarction and sudden death. The mechanisms involved are related to the systolic compression of the coronary artery, the delay in recovering its diameter during diastole and the alteration in the speed profile and the coronary flow. The diagnostic approach still considers coronary angiography, but a greater role of intravascular ultrasound and intracoronary Doppler is increasingly accepted. Drug therapy is the first choice, but in selected patients with refractory angina or medical therapy failure, percutaneous and / or surgical revascularization could be considered. We report a series of eleven patients with documented myocardial bridges as part of the diagnostic study in the context of an acute coronary syndrome (acute myocardial infarction without ST elevation), and discuss their relationship as causal agent and the available therapeutic options.