Miocardiopatia periparto / Peripartum cardiomyopathy

A miocardiopatia periparto (MCPP) é doença rara, reconhecida como entidade distinta das cardiomiopatias preexistentes, de ocorrência em mulheres previamente saudáveis, durante o período periparto. É pouco conhecida em relação a sua etiologia, risco e prognóstico. As manifestações clínicas mais comuns são as da insuficiência cardíaca sistólica. Sua terapia farmacológica convencional inclui diuréticos, digoxina, inibidores da enzima conversora de angiotensina, bloqueadores dos receptores de angiotensina e bloqueadores beta-adrenérgicos. Os pacientes refratários à terapia farmacológica convencional requerem o suporte circulatório mecânico e o transplante cardíaco. Não existe consenso sobre os riscos de futuras gravidezes em pacientes com MCPP prévia.

Peripartum cardiomyopathy (PPCM) is a rare disease, recognized as a distinct entity from preexisting cardiomyopathy. It occurs in previously healthy woman, during the peripartum period. PPCM is still a little known disease concerning its etiology, risk and prognosis. The most common clinical manifestations are those of systolic heart dysfunction. The objective of the study is to review the scientific literature about the several aspects of PPCM. A total of 19 publications were evaluated. The conventional therapy for congestive heart failure includes diuretics, digoxin, angiotensin-converting enzyme inhibitors (ACEI), angiotensin II receptor blockers (ARB) and beta-adrenergic blockers. For those patients who are resistant to all conventional pharmacological therapy, the viable options are cardiac transplant and mechanical circulation support. There is no consensus about the recommendations on risk of future pregnancies in these patients. Results demonstrate the need for more studies to the understanding of this disease etiology, epidemiology and prognosis.

Miocardiopatia periparto: aspectos relevantes / Peripartum cardiomyopathy: relevant aspects

A miocardiopatia periparto constitui entidade clínica rara, caracterizada por dilatação cardíaca e manifestações de insuficiência cardíaca grave, capaz de evoluir de forma fatal. Ocorre nos meses finais da gestação ou precocemente no puerpério. Sua etiologia e epidemiologia ainda são pouco conhecidas. Há grande discrepância nos prognósticos observados em relatos de caso, variando desde recuperação completa da função ventricular até fatalidade. Neste artigo é relatada a apresentação da doença de forma típica. O objetivo é enfatizar sua importância para que seja instituída precocemente sua terapêutica, evitando assim sua progressão para formas graves.

Peripartum cardiomyopathy (PPCM) is a rare clinical condition characterized by cardiac dilation and signs of severe heart failure and can be fatal. Its main characteristic is to affect women in the final months of pregnancy or early puerperium. Although the high morbidity and mortality, its etiology and epidemiology are poorly known. However, the outcome reports differ widely from complete recovery to death. The article reports a case to illustrate a typical manifestation of the disease. Our objective is to emphasize the importance of the theme not only to cardiologists but also to obstetricians, as the early therapy is the most important way to prevent the progression to severe conditions. Therefore the diagnosis of PPCM requires a lot of care and attention, and preventive counseling after PPCM is important due the increased risk for recurrence in a subsequent pregnancy.

Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients

INTRODUCTION: Nephrogenic diabetes insipidus is characterized by a lack of response in the distal nephron to the antidiuretic hormone arginine vasopressin. Manifestations include polyuria, polydipsia, hyposthenuria, recurrent episodes of dehydration and fever and growth failure. Most cases are caused by mutations in the AVPR2 gene. The mutant receptors are trapped intracellularly. METHOD: We studied five boys using clinical, laboratory and molecular data. The mean age at diagnosis was 14.6 months (range 6 to 24) and 12.2 years (7.8 to 19) after the follow-up period. The mean period of follow-up was 132.2 ± 50.9 months. RESULTS: The geometric means of the z-scores of weight and stature were -4.5 and -3.6, respectively, at diagnosis. At the last medical appointment, the z-scores of weight and stature were -0.3 and -0.9, respectively. Three patients were diagnosed with ureterohydronephrosis and exhibited increased post-void urine volume. Mutations in the AVPR2 gene were found in all patients, and the carrier status was confirmed in four of five cases. Two unrelated children presented identical mutations (S167L) in arginine vasopressin R2. Two of the patients had a mutation that has already been described in other Brazilian families (R337X), and one patient showed a de novo mutation (Y128D) in arginine vasopressin R2, since his mother's molecular analysis was normal. The recurrence risk for this family was significantly reduced. CONCLUSION: This study reports the clinical and laboratory characterization of Nephrogenic diabetes insipidus and reiterates the importance of the genetic basis that underlies the disease diagnosis and genetic counseling.