RESUMEN
Thyrotoxic hypokalaemic periodic paralysis (THPP) is a rare complication of hyperthyroidism that is potentially life-threatening if not treated promptly. It is more common in Asian and Polynesian populations and very few cases have been reported to date in people of White ethnicity. We present a case report of a young male patient of White ethnicity, who was initially brought in as a stroke alert with tetraparesis which was ruled out on initial assessment, but then had a syncopal episode and was noted to be initially bradycardic and subsequently tachycardic. Blood tests showed hypokalaemia and hypophosphataemia and he was treated as a hypokalaemic periodic paralysis patient. Intravenous potassium replacement was commenced. Symptoms and ECG changes resolved with correction of potassium levels. Thyroid function tests requested later were suggestive of hyperthyroidism and the diagnosis of thyrotoxic hypokalaemic periodic paralysis was made. This is an interesting case given its rarity, and this case report highlights the importance of early diagnosis and prompt treatment.
RESUMEN
Holt-Oram syndrome is a rare autosomal dominant disorder which occurs because of mutations in the TBX5 genes. Most notable manifestations include musculoskeletal deformities, predominantly affecting the upper limbs, and congenital heart defects. Presentation could be multifaceted leading to delay in diagnosis. We describe an interesting incidental diagnosis of Holt-Oram syndrome in a young female adult who accompanied her son to the clinic. He had undergone closure of both atrial septal defect (ASD) and patent ductus arteriosus (PDA) in his infancy. She reported progressive exertional dyspnoea, reduced exercise tolerance, and palpitations; incidentally, she was noted to have right upper limb deformities. These findings prompted further evaluation and thereafter, resulted in a diagnosis of Holt-Oram syndrome.
RESUMEN
AIMS: Athletic activity is associated with electrocardiographic T-wave inversions in some adults, resembling those observed in cardiomyopathy. The prevalence and significance of T-wave inversions in adolescent athletes, the group most vulnerable to exercise-related sudden death from cardiomyopathy, is unknown. METHODS AND RESULTS: This study evaluated 1710 adolescent athletes and 400 healthy controls. Subjects with T-wave inversions underwent intensive cardiac investigations to identify a potential cause. There was no significant difference in the overall prevalence of T-wave inversions between athletes and controls (4 vs. 3%; P = 0.46). T-wave inversions in leads V1-V3 were largely confined to athletes and controls aged <16 years. Only 0.1% of athletes aged >or=16 years exhibited T-wave inversions beyond V2. T-wave inversions in the inferior and/or lateral leads and deep T-wave inversions occurred infrequently in athletes (1.5 and 0.8%, respectively) and were associated with a high prevalence of left ventricular hypertrophy or congenital cardiac anomalies. Despite intensive investigations, no athlete was diagnosed with a cardiomyopathy. CONCLUSIONS: T-wave inversions in V1-V3 are relatively common in athletes <16 years and probably represent the juvenile electrocardiogram pattern. In adolescent athletes, T-wave inversions beyond V2 if >or=16 years, T-wave inversions in the inferior/lateral leads and deep T-wave inversions in any lead are unusual, warranting further investigations for underlying cardiomyopathy.
