Morphological and genetic causes of fetal cardiomyopathies.

Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the antenatal period with a pejorative issue leading to fetal death or medical interruption of pregnancy. Variable phenotypes and genetic heterogeneity make etiologic diagnosis difficult. We report 11 families (16 cases) whose unborn, newborn or infant with early onset cardiomyopathies. Detailed morphological and histological examinations of hearts were implemented, as well as genetic analysis on a cardiac targeted NGS panel. This strategy allowed the identification of the genetic cause of the cardiomyopathy in 8/11 families. Compound heterozygous mutations in dominant adulthood cardiomyopathy genes were found in two, pathogenic variants in co-dominant genes in one, de novo mutations in 5 including a germline mosaicism in one family. Parental testing was systematically performed to detect mutation carriers, and to manage cardiological surveillance and propose a genetic counseling. This study highlights the great diagnostic value of the genetic testing of severe antenatal cardiomyopathy both for genetic counseling and to detect presymptomatic parents at higher risk of developing cardiomyopathy.

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.

[Surgical treatment of urethral prolapse]. / Chirurgische Therapie des Urethralprolaps.

Urethral prolapses in humans are rare. Urethral caruncula are more frequent. Caruncula originate from the dorsal external layer of the urethral meatus. We report on the surgical approach used for the resection of a huge urethral prolapse in a postmenopausal woman with chronic constipation using the four-quadrants resection technique. After the procedure, the patient was quickly relieved from pain and micturition was improved. The patient was fully continent. Alternative treatments to surgical resection include conservative approaches with sitz baths and oestrogen cremes, manual reduction under general anaesthesia and ligation of the prolapse around a transurethral bladder catheter.