Background
Prevalence of both degenerative severe aortic stenosis (AS) and transthyretin cardiac amyloidosis (ATTR-CA) increases with age. Dual disease (AS+myocardial ATTR-CA) occurs in significant proportion of patients undergoing surgical aortic valve replacement (SAVR).
Objectives
This study aimed to determine the prevalence of ATTR-CA in severe AS in the Indian population, identify noninvasive predictors of its diagnosis, and understand its impact on prognosis.
Methods
Symptomatic severe AS patients aged ≥65 years undergoing SAVR were enrolled. ATTR-CA diagnosis was based on preoperative 99m-technetium pyrophosphate (PYP) scan and intraoperatively obtained basal interventricular septum biopsy for myocardial ATTR-CA, and excised native aortic valve for isolated valvular ATTR-CA. Primary amyloidosis was excluded by serum/urine protein electrophoresis with serum immunofixation.
Results
SAVR was performed in 46 AS patients (age 70 ± 5 years, 70% men). PYP scan was performed for 32 patients, with significant PYP uptake in 3 (n = 3 of 32, 9.4%), suggestive of myocardial ATTR-CA. On histopathological examination, none of the interventricular septum biopsy specimens had amyloid deposits, whereas 33 (71.7%) native aortic valves showed amyloid deposits, of which 19 (57.6%) had transthyretin deposition suggestive of isolated valvular amyloidosis. Noninvasive markers of dual disease included low myocardial contraction fraction (median [interquartile range], 28.8% [23.8% to 39.1%] vs 15.3% [9.3% to 16.1%];
P
= 0.006), deceleration time (215 [144 to 236] ms vs 88 [60 to 106] ms;
P
= 0.009) and global longitudinal strain (-18.7% [-21.1% to -16.9%] vs -14.2% [-17.0% to -9.7%];
P
= 0.030). At 1-year follow-up, 2 patients died (4.3%); 1 each in myocardial ATTR-CA negative and positive groups (3.4% vs 33.3%;
P
= 0.477).
Conclusions
Dual disease is not uncommon in India. Isolated valvular amyloidosis in severe AS is much more common.
The study strengthens the hypothesis of existence of MPW in humans. Shorter AGD in cryptorchid infants may reflect the effect of androgen disruption or deficiency during MPW. AGD may be a more reliable non-invasive marker of androgen action during MPW than SPL to predict reproductive outcomes in humans.
Undescended testis (UDT) is seen in 3% to 5% of all newborn boys. Complications such as infertility and malignant transformation have been well documented in UDT. However, torsion of a UDT can also occur and the diagnosis is often missed or delayed, leading to loss of testis. This event may occur even before the currently recommended age for surgery, which is at 6-9 months. We present a case series of six children with torsion of undescended testes and their subsequent diagnosis and management. The risk of torsion of UDT is understated. Paediatricians should be educated about this complication and torsion should be included in the differential diagnosis when a boy with an empty scrotum presents with acute abdomen or red and tender swelling in the groin, as early detection and intervention can help salvage the testes.
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