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Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant disease caused by the deposition of amyloid fibrils composed of TTR proteins. Symptoms of this disease include progressive sensorimotor neuropathy, cardiomyopathy, and involvement of other organs. We described a pediatric case of extremely early onset TTR-FAP with a TTR Leu55Pro mutation. A 17-year-old boy began to suffer from lower limb weakness, gait disturbance, and decreased sensation from 14 years of age onward. He presented with hypertrophic cardiomyopathy, periorbital and scleral ecchymosis, anhidrosis, orthostatic intolerance, and gastrointestinal autonomic dysfunction including nausea, vomiting, and diarrhea alternating with constipation. The patient's older sister had developed similar gastrointestinal symptoms from 20 years of age onward and was diagnosed as having hypertrophic cardiomyopathy. The boy's biopsy results showed infiltrated amyloid deposition on subcutaneous fat tissue and endocardium. Genetic analysis of the TTR gene demonstrated that both the patient and his sister had a pathogenic mutation, c.224T > C (Leu55Pro). Both patients were prescribed tafamidis, a TTR stabilizing agent. Although a majority of TTR-FAPs occur during adulthood, it should be suspected, even in pediatric populations, when symmetric length dependent neuropathy occurs in conjunction with a family history of neuropathy, autonomic neuropathy, and/or cardiomyopathy. [ABSTRACT FROM AUTHOR]

Abstract: Background: The clinical manifestations of the Korean patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) are not well known. Methods: The clinical data of Korean patients who met the Task Force Criteria for ARVC were analyzed. Results: Thirty-seven patients (41.2±14.8 years old, 19 males) were diagnosed with ARVC. The commonest presenting symptoms were palpitations (30%), syncope/presyncope (30%) and no symptoms (30%). Four patients had a family history of premature sudden death or ARVC. Most patients with no symptoms were evaluated due to ECG abnormalities or asymptomatic ventricular arrhythmias. Ventricular tachycardia, ventricular fibrillation and frequent premature ventricular contractions only were observed in 35%, 5% and 24%, respectively. Wall motion abnormalities of the right and left ventricles were detected in 92% and 41%, respectively. Fatty or fibrofatty infiltration was observed in 26 of the 32 (81%) patients who underwent an endomyocardial biopsy. Two patients had signs of heart failure. Two patients with syncope/presyncope were diagnosed with vasovagal syncope and another was due to side effects from a medication. Most of the patients with ventricular arrhythmias were treated with β-blockers and/or amiodarone. Implantable cardioverter-defibrillators (ICDs) were implanted in 3 patients. During a mean follow-up of 27.4±26.5 months no syncope or sudden death developed except for in one patient with an ICD who suffered from recurrent shocks due to ventricular fibrillation. Conclusions: ARVC may be an important cause of syncope, ventricular arrhythmias, and ECG and wall motion abnormalities of the ventricles in Koreans. The Korean patients with ARVC exhibited various clinical manifestations. [Copyright &y& Elsevier]

Abstract: A twenty-year old male presented with diffuse limb muscle weakness and exertional dyspnea since childhood. The diagnosis of nemaline myopathy was given based on the muscle pathology findings that revealed nemaline rods on light and electron microscopy and discovery of a novel mutation, E239K, in ACTA1. Incidentally, the patient had hypertrophic cardiomyopathy (HCM) as shown by echocardiography. In nemaline myopathy, a few cases of HCM have been reported, albeit rarely and always fatal, but only one patient had ACTA1 mutation. This present report describes an infantile onset of nemaline myopathy with a milder clinical course and non-fatal HCM as compared with previous cases, showing clinical diversity in skeletal and cardiac manifestations of conditions associated with ACTA1 mutations. [Copyright &y& Elsevier]