An 18-year-old woman with a history of syncope one month before the fatal event, had not consulted a doctor.
She sat next to her family in the river's river, and suddenly says she feels sick, loses consciousness, and falls into water.
It is recovered from water immediately, but it dies within a few minutes.
Initially it is suspected that it could be an accidental immersion.
Autopsy was performed with a postmortem delay of 16 hours.
It was the corpse of an athletic woman with a height of 1.65 m and 54.5 kg of weight approximately (BMI 20 kg/m2), without external signs of violence or marfanoid habit.
Upon opening the thoracic cavity, a massive left hemothorax of 3,000 cc was found due to rupture of a saccular aneurysm of the terminal portion of the aortic arch, slightly distal to the origin of the subclavian artery.
This aneurysm measured 4.2 x 4.6 cm and its wall, notably thinned, was at least 1 mm thick.
The rupture line measured 2 mm in length and was located in the infero-anterior region of the aneurysm sac.
1.
The heart weighed 200 g and the expected weight was 199 g, according to Kitzman tables.
A slightly thickened area was observed in the subaortic endocardium.
Both the atrioventricular valves and the semilunar valves were normal, as well as the origin of the coronary arteries.
The histopathological examination of the aneurysm wall showed thinning of the aorta wall, the accumulation of vesicles secondary to rupture and loss of elastic fibers, and reduction of muscle tissue matrix not replaced by a seizure matrix.
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The suspicion of the existence of a collagenopathy child, i.e. without phenotypic expression, a genetic screening of Marfan syndrome was performed on the younger sister of the deceased -after genetic counseling at the Hospital del Niño.
The technique used was the molecular genetic investigation of the FBN1 marker that was amplified by standard PCR protocol, sequenced and quantified by electroferograms (capillary electrophoresis), analyzed and compared with reference sequences.
The study was negative.
No other diseases were screened for lack of genetic markers at that time.
