Presentación inusual del síndrome de Lutembacher / Unusual presentation of Lutembacher’s syndrome

Resumen Introducción: El síndrome de Lutembacher corresponde a la asociación de un defecto interauricular (congénito o iatrogénico) e insuficiencia o estenosis mitral (congénita o adquirida). La etiología reumática es la causa más frecuente del compromiso mitral. Tiene una prevalencia reportada de 0.001 por cada 1.000.000 habitantes. Caso clínico: Paciente femenina de 6 años con cuadro de 10 meses de palpitaciones asociadas a dolor torácico. Se realizó un electrogardiograma en el que se evidenció bloqueo incompleto de la rama derecha del haz de His y prolongación del intervalo PR, además de un ecocardiograma en el que se visualizó una comunicación interauricular tipo ostium secundum no restrictiva de 28 mm, con cortocircuito de izquierda a derecha, dilatación del ventrículo derecho, prolapso de válvula mitral, valvas engrosadas e insuficiencia mitral moderada a grave. Se realizó plastia de válvula mitral y cierre quirúrgico de la comunicación interauricular, sin complicaciones. Durante el seguimiento se encuentra asintomática desde el punto de vista cardiovascular, en manejo farmacológico. Conclusiones: La asociación Lutembacher tiene una prevalencia de 0.001/1.000.000 habitantes; la mayoría tiene etiología reumática. La paciente no tiene historia de fiebre reumática y sería la paciente más joven reportada en la literatura con síndrome de Lutembacher.

Abstract Introduction: Lutembacher’s syndrome corresponds to the association of an atrial septal defect (congenital or iatrogenic) and mitral regurgitation or stenosis (congenital or acquired), with rheumatic etiology being the most-frequent cause of mitral regurgitation. It has a reported prevalence of 0.001 for every 1,000,000 inhabitants. Clinical case: Female patient six years of age with a 10-month condition of palpitations associated with chest pain. An electrocardiogram was performed with evidence of incomplete right His bundle branch block and PR interval prolongation; additionally, an echocardiogram showed 28-mm non-restrictive ostium secundum atrial septal defect, with left-to-right shunt, right ventricular dilation, mitral valve prolapse, thickened valves, and moderate-to-severe mitral regurgitation. Mitral valve plasty and surgical closure of the atrial septal defect were performed, without complications. During follow-up, she was asymptomatic from the cardiovascular point of view, under pharmacological management. Conclusions: Lutembacher’s association has a prevalence of 0.001/1´000.000 inhabitants; the majority with rheumatic etiology. Our patient has no history of rheumatic fever and would be the youngest patient reported in the literature with Lutembacher’s syndrome.

Insuficiencia mitral congénita en el adulto: reporte de un caso y revisión de la literatura / Congenital mitral regurgitation in adults: a case report and literature review

Congenital mitral valve disease is a rare form of mitral regurgitation. The etiological diagnosis is often challenging. The transthoracic echocardiogram is presented as a good initial approach method. The case of a 29-year-old patient referred for the diagnosis of severe congenital mitral regurgitation in parachute is presented. This report aims to illustrate the clinical and echocardiographic presentation of congenital mitral regurgitation.

Anti-Ro/SSA antibodies are associated with severe mitral valve regurgitation in patients with systemic lupus erythematosus.

OBJECTIVE: To assess whether anti-Ro/SSA antibodies are associated with cardiac valve disease in lupus. METHODS: A single-center, medical chart review was performed. Lupus patients were divided according to its anti-Ro/SSA status and subgroups were compared for valvular abnormalities and other characteristics. Dependence of anti-Ro/SSA reactivity to anti-Ro52/TRIM21 antibodies was also evaluated. RESULTS: Eighty-nine lupus patients were analyzed. The most common valvular abnormalities were tricuspid (60%), mitral (41%) and pulmonary (14%) regurgitation. Thirty-six patients were positive and 53 negative for anti-Ro/SSA antibodies. In patients positive to anti-Ro/SSA, a difference was noted for anti-dsDNA (67 versus 45%; p = 0.04) and anti-La/SSB (19 versus 2%; p = 0.004) antibodies. An association between anti-Ro/SSA antibodies and severe mitral regurgitation was observed; indeed, 4/15 patients with anti-Ro/SSA and mitral regurgitation had severe forms of valvulopathy as compared to only 1/22 patients with mitral regurgitation but negative to such antibody (27 versus 5%; p = 0.02). Anti-Ro/SSA antibodies significantly elevated the risk of severe mitral regurgitation (OR = 5). Anti-Ro52/TRIM21 levels (103 ± 29 versus 42 ± 43 U/mL; p = 0.03) and anti-Ro52/TRIM21: anti-Ro/SSA ratios (0.88 ± 0.02 versus 0.35 ± 0.37; p = 0.03) were higher in patients with mitral valve regurgitation than in those with no valvulopathy. CONCLUSION: Anti-Ro/SSA antibodies, mainly against Ro52/TRIM21 antigens, may be pathologically involved in lupus-associated mitral valve regurgitation.

Estudo do padrão respiratório e movimento toracoabdominal em valvopatia mitral / Study of breathing pattern and thoracoabdominal movement in mitral valve disease

FUNDAMENTO: pacientes com valvopatia mitral podem evoluir com congestão pulmonar, que aumenta o trabalho dos músculos respiratórios; essa sobrecarga pode alterar o padrão respiratório com predomínio do deslocamento torácico ou presença de movimentos paradoxais. OBJETIVO: a) estudar o padrão respiratório e movimento toracoabdominal (MTA) em pacientes com doença mitral b) estudar o efeito do posicionamento nos parâmetros respiratórios c) correlacionar hipertensão pulmonar com presença de incoordenação do MTA. MÉTODOS: o padrão respiratório e o MTA de pacientes com doença mitral foram avaliados por pletismografia respiratória por indutância, nas posições dorsal e sentada, durante dois minutos de respiração tranquila. Analisou-se volume corrente (Vc) e tempos respiratórios e as variáveis do MTA. RESULTADOS: de 65 pacientes incluídos, 10 foram retirados, 29 participaram do grupo estenose mitral e 26 do grupo insuficiência mitral. O Vc, a ventilação pulmonar e o fluxo inspiratório médio aumentaram significantemente na posição sentada, sem diferenças entre os grupos. O MTA manteve-se coordenado entre os grupos e as posições; no entanto, cinco pacientes na posição dorsal apresentaram incoordenação (três no grupo estenose mitral; dois no grupo insuficiência mitral) com correlação significante com valores de pressão de artéria pulmonar (r = 0,992, p = 0,007). CONCLUSÃO: o padrão respiratório e o MTA não apresentam diferenças entre pacientes com estenose ou insuficiência mitral. A posição sentada aumenta o Vc sem alterar os tempos respiratórios. A presença de incoordenação toracoabdominal na posição dorsal esteve associação à hipertensão pulmonar.

BACKGROUND: patients with mitral valve disease can progress to having pulmonary congestion, which increases the work the respiratory muscles. This overload can change the breathing pattern with a predominance of rib cage displacement or presence of paradoxical movements. OBJECTIVE: a) to study the breathing pattern and thoracoabdominal movement of patients with mitral valve disease; b) to study the effect of body position on breathing parameters; and c) to correlate pulmonary hypertension with lack of coordination of thoracoabdominal movement. METHODS: the breathing pattern and thoracoabdominal movement of patients with mitral valve disease were assessed using respiratory inductive plethysmography during quiet breathing in the dorsal decubitus and sitting positions for two minutes. The variables assessed were tidal volume, breathing time and thoracoabdominal movement. RESULTS: of the 65 patients selected, 10 were excluded, 29 were in the mitral stenosis group and 26 in the mitral regurgitation group. Tidal volume, pulmonary ventilation and mean inspiratory flow significantly increased in the sitting position, with no difference between the groups. The thoracoabdominal movement remained coordinated in all groups and positions; except for five patients in the dorsal decubitus position, who lacked coordination (three in the mitral stenosis group; two in the mitral regurgitation group). A significant correlation with pulmonary artery pressure values was observed (r = 0.992; p = 0.007). CONCLUSION: No difference in breathing pattern or thoracoabdominal movement was found between patients with mitral stenosis and regurgitation. The sitting position increased tidal volume without altering breathing times. The lack of coordination of the thoracoabdominal movement in the dorsal decubitus position was associated with pulmonary hypertension.

Variáveis ecocardiográficas relacionadas à insuficiência mitral na miocardiopatia dilatada / Echocardiographic variables related to mitral insufficiency in dilated cardiomyopathy

Objetivo - Avaliar a prevalência de insuficiência mitral (IMI) na miocardiopatia dilatada (MD) e sua relaçäo com o tamanho e a funçäo ventricular esquerda. Métodos - Foram estudados 45 pacientes, sendo 32 masculinos, idade entre 2 e 84 (média= 50 + ou - 16) anos, portadores de MD e submetidos a ecocardiograma com doppler entre out/91 a dez/92. Resultados - Entre 45 pacientes com MD, a IMI foi encontrada em 26 (58 por cento). Os diâmetros sistóticos (DSVE) e diastólico (DDVE) do ventrículo esquerdo (VE) foram significantemente maiores nos pacientes com IMI (60,7 x 51,5, p<0,001 e 70,2 x 65,4 p<0,02, respectivamente) e a fraçäo de ejeçäo do ventrículo esquerdo (FE) foi significantemente menor nos pacientes com IMI (29,6 x 42,0,p<0,001), quando comparados aos pacientes sem IMI. Conclusäo - IMI ocorreu na maioria dos pacientes com MD. O tamanho e a funçäo ventricular contrátil do VE mostraram correlaçäo direta com a prevalência de IMI. As variáveis ecocardiográficas FE >= ou <40 por cento, DSVE >= ou <50mm e DDVE >= ou <65mm podem identificar grupos de pacientes com alta ( + ou - 75 por cento) ou baixa (<25 por cento) prevalência de IMI