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Sudden death of an infant with cardiac, nervous system and genetic involvement--a case report.

Mecchia D, Casale V, Oneda R, Matturri L, Lavezzi AM - Diagn Pathol (2013)

Bottom Line: We present a case of sudden death of a 1-month-old male infant with heart, brainstem and genetic polymorphism involvement.Previously considered quite healthy, the child died suddenly and unexpectedly during sleep.The sudden death of this infant was the unavoidable outcome of a complex series of congenital anomalies, each predisposing to SIDS.

View Article: PubMed Central - HTML - PubMed

Affiliation: "Lino Rossi" Research Center for the study and prevention of unexpected perinatal death and SIDS - Department of Biomedical, Surgical and Dental Sciences, University of Milan, Via della Commenda 19, Milan 20122, Italy. anna.lavezzi@unimi.it.

ABSTRACT

Unlabelled: We present a case of sudden death of a 1-month-old male infant with heart, brainstem and genetic polymorphism involvement. Previously considered quite healthy, the child died suddenly and unexpectedly during sleep. The autopsy protocol included an in-depth anatomopathological examination of both the autonomic nervous system and the cardiac conduction system, and molecular analysis of the serotonin transporter gene promoter region, in which a specific genetic condition seems to be associated with sudden infant death. Histological examination revealed the presence of congenital cardiac alterations (hypertrophic cardiomyopathy and an accessory Mahaim fiber in the cardiac conduction system), severe hypodevelopment of all the raphe nuclei and a heterozygous genotype L/S related to the serotonin transporter gene. The sudden death of this infant was the unavoidable outcome of a complex series of congenital anomalies, each predisposing to SIDS.

Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3480540091031788.

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Related in: MedlinePlus

Hypertrophy of myocytes and cellular disorganization (disarray) of the left ventricle. Hematoxylin and Eosin stain; magnification 40 ×.
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Figure 1: Hypertrophy of myocytes and cellular disorganization (disarray) of the left ventricle. Hematoxylin and Eosin stain; magnification 40 ×.

Mentions: At autopsy, the infant was described as in good health, with a body length (54 cm) and weight (4500 gr) at the 50th percentile. There were no signs of violence. The lungs were congested, with some alveolar and interstitial bacterial colonies, edema and many intra-alveolar lipid vacuoles, suggestive of a lipid pneumonia due to aspiration. The heart, that arrived without the tip, weighed 27 gr; the cardiac diameters were as follows: transverse 4.1 cm and anteroposterior 2.9 cm. We could not measure the longitudinal diameter due to the absence of the tip. The myocardium was brownish and homogeneous in appearance, with clots in the left ventricle. The foramen of Botallo was open by about 3 mm. The coronaries appeared normal. Histological examination of the common myocardium showed congestion, myocytes hypertrophy and cellular disorganization (disarray) of the left ventricle and of the interventricular septum (Figure 1). Histological examination of the cardiac conduction system showed an accessory fiber of Mahaim (nodo-ventricular) and cartilaginous metaplasia of the cardiac fibrous body (Figure 2).


Sudden death of an infant with cardiac, nervous system and genetic involvement--a case report.

Mecchia D, Casale V, Oneda R, Matturri L, Lavezzi AM - Diagn Pathol (2013)

Hypertrophy of myocytes and cellular disorganization (disarray) of the left ventricle. Hematoxylin and Eosin stain; magnification 40 ×.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3852348&req=5

Figure 1: Hypertrophy of myocytes and cellular disorganization (disarray) of the left ventricle. Hematoxylin and Eosin stain; magnification 40 ×.
Mentions: At autopsy, the infant was described as in good health, with a body length (54 cm) and weight (4500 gr) at the 50th percentile. There were no signs of violence. The lungs were congested, with some alveolar and interstitial bacterial colonies, edema and many intra-alveolar lipid vacuoles, suggestive of a lipid pneumonia due to aspiration. The heart, that arrived without the tip, weighed 27 gr; the cardiac diameters were as follows: transverse 4.1 cm and anteroposterior 2.9 cm. We could not measure the longitudinal diameter due to the absence of the tip. The myocardium was brownish and homogeneous in appearance, with clots in the left ventricle. The foramen of Botallo was open by about 3 mm. The coronaries appeared normal. Histological examination of the common myocardium showed congestion, myocytes hypertrophy and cellular disorganization (disarray) of the left ventricle and of the interventricular septum (Figure 1). Histological examination of the cardiac conduction system showed an accessory fiber of Mahaim (nodo-ventricular) and cartilaginous metaplasia of the cardiac fibrous body (Figure 2).

Bottom Line: We present a case of sudden death of a 1-month-old male infant with heart, brainstem and genetic polymorphism involvement.Previously considered quite healthy, the child died suddenly and unexpectedly during sleep.The sudden death of this infant was the unavoidable outcome of a complex series of congenital anomalies, each predisposing to SIDS.

View Article: PubMed Central - HTML - PubMed

Affiliation: "Lino Rossi" Research Center for the study and prevention of unexpected perinatal death and SIDS - Department of Biomedical, Surgical and Dental Sciences, University of Milan, Via della Commenda 19, Milan 20122, Italy. anna.lavezzi@unimi.it.

ABSTRACT

Unlabelled: We present a case of sudden death of a 1-month-old male infant with heart, brainstem and genetic polymorphism involvement. Previously considered quite healthy, the child died suddenly and unexpectedly during sleep. The autopsy protocol included an in-depth anatomopathological examination of both the autonomic nervous system and the cardiac conduction system, and molecular analysis of the serotonin transporter gene promoter region, in which a specific genetic condition seems to be associated with sudden infant death. Histological examination revealed the presence of congenital cardiac alterations (hypertrophic cardiomyopathy and an accessory Mahaim fiber in the cardiac conduction system), severe hypodevelopment of all the raphe nuclei and a heterozygous genotype L/S related to the serotonin transporter gene. The sudden death of this infant was the unavoidable outcome of a complex series of congenital anomalies, each predisposing to SIDS.

Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3480540091031788.

Show MeSH
Related in: MedlinePlus