Pentalogia de Cantrell é uma doença rara que se pronuncia ainda no momento da gestação do bebê e é caracterizada por uma combinação de defeitos congênitos.

A Pentalogia de Cantrell ocorre com diferentes graus de gravidade, podendo causar complicações graves e sério risco de vida. A maioria das crianças não desenvolve todos os defeitos possíveis como descrito pelo cirurgião pediátrico  J.R Cantrell em 1958, por isso são conhecidas como Pentalogia incompleta de Cantrell. Quando todos os cinco defeitos estão presentes, Pentalogia completa de Cantrell.

As anomalias da Pentalogia completa de Cantrell afetam as seguintes estruturas:

  • o esterno;
  • a parede abdominal;
  • o músculo que separa a cavidade torácica do abdômen e auxilia na respiração (diafragma);
  • a membrana fina que reveste o coração (pericárdio);
  • e o coração.

Por conta disso temos a presença das seguintes enfermidades: fenda esternal inferior, onfalocele epigástrica, defeito diafragmático anterior em meia lua, ausência de pericárdio parietal anterior e comunicação pericárdio-peritonial. Na questão cardiológica os defeitos cardíacos congênitos da Tetralogia de Fallot podem surgir com grande prevalência da comunicação intraventricular

A variabilidade do distúrbio de um indivíduo para outro pode ser bastante significativa e a causa exata da pentalogia de Cantrell é desconhecida embora tenham sido identificadas heranças recessivas em algumas famílias com genes ligado ao cromossoma X  (Xq25-q26.1)

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