Diagnóstico clínico e genético de miocardiopatia hipertrófica familiar: resultados em cardiologia pediátrica

Abstract

The penetrance of HCM in phenotype-negative child relatives was 28% after 3.5 years of follow-up. This underlines the need for long-term monitoring of mutation carriers irrespective of the presence of a positive phenotype.

Genetic Testing in Patients with Hypertrophic Cardiomyopathy

“…According to current recommendations, the examination of children is appropriate around the age of 6–10 [ 1 , 44 ]. The threshold was established based on pediatric studies, which showed a rare incidence of serious complications of HCM before the onset of puberty [ 45 , 46 ].…”

“…According to current recommendations, the examination of children is appropriate around the age of 6-10 [1,44]. The threshold was established based on pediatric studies, which showed a rare incidence of serious complications of HCM before the onset of puberty [45,46]. If the molecular genetic examination of the proband is negative (no P/LP variant is found), we continue the established regular clinical monitoring of first-degree relatives.…”

Myosin Heavy Chain 9: Oncogene or Tumor Suppressor Gene?

“…Because MYH9 is expressed in the kidneys, retinas, and ears, patients usually have neurological deafness, premature cataracts, and glomeruli nephritis after age 50 years. Laboratory diagnosis mainly depends on morphological indicators (cell volume), a peripheral blood smear (neutrophil cytoplasmic inclusive), immunofluorescence (NMM-IIA inclusive), gene mutation analysis ( MYH9 has 40 known exonic mutations, which help assess the patient’s risk of renal/retinal and ear pathology), and flow cytometry (detection of platelet glycoproteins such as GPIb and CPIX contribute to the differential diagnosis) [3]. Therefore, clinically indefinable thrombocytopenia should first exclude myelodysplastic syndromes (MDS), aplastic anemia, idiopathic thrombocytopenic purpura (ITP), Alport syndrome, and other diseases.…”