Duchenne muscular dystrophy is characterised by fibrofatty replacement of muscle, resulting in dilated cardiomyopathy. Hypertrophic cardiomyopathy affects 1:200–1:500 people and is characterised by asymmetric ventricular septal hypertrophy. To date, there have been two separately reported cases describing the combined pathology of these disorders. Herein, we expand upon these reports with a case series describing longitudinal findings in three patients with Duchenne muscular dystrophy who developed hypertrophic cardiomyopathy.

Due to the important roles of resistance training and protein consumption in the prevention and treatment of sarcopenia, we assessed the efficacy of post-exercise Icelandic yogurt consumption on lean mass, strength and skeletal muscle regulatory factors in healthy untrained older males. Thirty healthy untrained older males (age = 68 ± 4 years) were randomly assigned to Icelandic yogurt (IR; n 15, 18 g of protein) or an iso-energetic placebo (PR; n 15, 0 g protein) immediately following resistance training (3×/week) for 8 weeks. Before and after training, lean mass, strength and skeletal muscle regulatory factors (insulin-like growth factor-1 (IGF-1), transforming growth factor-beta 1 (TGF-β1), growth differentiation factor 15 (GDF15), Activin A, myostatin (MST) and follistatin (FST)) were assessed. There were group × time interactions (P < 0·05) for body mass (IR: Δ 1, PR: Δ 0·7 kg), BMI (IR: Δ 0·3, PR: Δ 0·2 kg/m2), lean mass (IR: Δ 1·3, PR: Δ 0·6 kg), bench press (IR: Δ 4, PR: 2·3 kg), leg press (IR: Δ 4·2, PR: Δ 2·5 kg), IGF-1 (IR: Δ 0·5, Δ PR: 0·1 ng/ml), TGF-β (IR: Δ − 0·2, PR: Δ − 0·1 ng/ml), GDF15 (IR: Δ − 10·3, PR: Δ − 4·8 pg/ml), Activin A (IR: Δ − 9·8, PR: Δ − 2·9 pg/ml), MST (IR: Δ − 0·1, PR: Δ − 0·04 ng/ml) and FST (IR: Δ 0·09, PR: Δ 0·03 ng/ml), with Icelandic yogurt consumption resulting in greater changes compared with placebo. The addition of Icelandic yogurt consumption to a resistance training programme improved lean mass, strength and altered skeletal muscle regulatory factors in healthy untrained older males compared with placebo. Therefore, Icelandic yogurt as a nutrient-dense source and cost-effective supplement enhances muscular gains mediated by resistance training and consequently may be used as a strategy for the prevention of sarcopenia.

All human tissues are in a constant state of remodelling, regulated by the balance between tissue protein synthesis and breakdown rates. It has been well-established that protein ingestion stimulates skeletal muscle and whole-body protein synthesis. Stable isotope-labelled amino acid methodologies are commonly applied to assess the various aspects of protein metabolism in vivo in human subjects. However, to achieve a more comprehensive assessment of post-prandial protein handling in vivo in human subjects, intravenous stable isotope-labelled amino acid infusions can be combined with the ingestion of intrinsically labelled protein and the collection of blood and muscle tissue samples. The combined application of ingesting intrinsically labelled protein with continuous intravenous stable isotope-labelled amino acid infusion allows the simultaneous assessment of protein digestion and amino acid absorption kinetics (e.g. release of dietary protein-derived amino acids into the circulation), whole-body protein metabolism (whole-body protein synthesis, breakdown and oxidation rates and net protein balance) and skeletal muscle metabolism (muscle protein fractional synthesis rates and dietary protein-derived amino acid incorporation into muscle protein). The purpose of this review is to provide an overview of the various aspects of post-prandial protein handling and metabolism with a focus on insights obtained from studies that have applied intrinsically labelled protein under a variety of conditions in different populations.

The beneficial effect of exercise restriction in preventing sudden cardiac death in children with aortic stenosis remains unclear. We report the case of a 15-year-old boy with congenital aortic stenosis who was resuscitated after sudden cardiac arrest during exercise. The case led to the new concept that exercise restriction may prevent not only unpredictable ventricular ischaemic events and associated arrhythmias but also progressive ventricular hypertrophy.

As the understanding of the nutritional regulation of muscle growth mechanisms in fish is fragmentary, the present study aimed to (1) characterise ontogenetic changes in muscle growth-related genes in parallel to changes in muscle cellularity; (2) determine whether an early decrease in dietary protein:energy ratio by fat addition affects the muscle growth mechanisms of rainbow trout (Oncorhynchus mykiss) alevins; and (3) determine whether this early feeding of a high-fat (HF) diet to alevins had a long-term effect on muscle growth processes in juveniles fed a commercial diet. Developmental regulation of hyperplasia and hypertrophy was evidenced at the molecular (expression of myogenic regulatory factors, proliferating cell nuclear antigen and myosin heavy chains (MHC)) and cellular (number and diameter of white muscle fibres) levels. An early decrease in dietary protein:energy ratio by fat addition stimulated the body growth of alevins but led to a fatty phenotype, with accumulation of lipids in the anterior part, and less caudal muscle when compared at similar body weights, due to a decrease in both the white muscle hyperplasia and maximum hypertrophy of white muscle fibres. These HF diet-induced cellular changes were preceded by a very rapid down-regulation of the expression of fast-MHC. The present study also demonstrated that early dietary composition had a long-term effect on the subsequent muscle growth processes of juveniles fed a commercial diet for 3 months. When compared at similar body weights, initially HF diet-fed juveniles indeed had a lower mean diameter of white muscle fibres, a smaller number of large white muscle fibres, and lower expression levels of MyoD1 and myogenin. These findings demonstrated the strong effect of early feed composition on the muscle growth mechanisms of trout alevins and juveniles.

Poor maternal nutrition before and during pregnancy is associated with an increased risk of cardiovascular disease in later life. To determine the impact of maternal undernutrition during the periconceptional (PCUN: −45 days to 6 days) and preimplantation (PIUN: 0–6 days) periods on cardiac growth and metabolism, we have quantified the mRNA and protein abundance of key regulators of cardiac growth and metabolism in the left ventricle of the sheep fetus in late gestation. The cardiac protein abundance of AMP-activated protein kinase (AMPK), phospho-acetyl CoA carboxykinase (ACC) and pyruvate dehydrogenase kinase-4 (PDK-4) were decreased, whereas ACC was increased in singletons in the PCUN and PIUN groups. In twins, however, cardiac ACC was decreased in the PCUN and PIUN groups, and carnitine palmitoyltransferase-1 (CPT-1) was increased in the PIUN group. In singletons, the cardiac abundance of insulin receptor β (IRβ) was decreased in the PCUN group, and phosphoinositide-dependent protein kinase-1 (PDPK-1) was decreased in the PCUN and PIUN groups. In twins, however, the cardiac abundance of IRβ and phospho-Akt substrate 160kDa (pAS160) were increased in the PIUN group. The cardiac abundance of insulin-like growth factor-2 receptor (IGF-2R), protein kinase C alpha (PKCα) and mammalian target of rapamycin (mTOR) were decreased in PCUN and PIUN singletons and extracellular-signal-regulated kinase (ERK) was also decreased in the PIUN singletons. In contrast, in twins, cardiac abundance of IGF-2R and PKCα were increased in the PCUN and PIUN groups, phospho-ribosomal protein S6 (pRPS6) was increased in the PCUN group, and ERK and eukaryotic initiation factor 4E (eIF4E) were also increased in the PIUN fetuses. In conclusion, maternal undernutrition limited to around the time of conception is sufficient to alter the abundance of key factors regulating cardiac growth and metabolism and this may increase the propensity for cardiovascular diseases in later life.

Male, wild-type, FVB strain mice were fed a nutritionally complete liquid diet supplemented with 4% ethanol v/v over a time course of 1, 2, 4, 8, 12, and 14 weeks. Controls were offered an isocaloric liquid equivalent and pair fed with their ethanol counterparts. Changes in cardiac physiology were assessed at respective time points via echocardiography. Additionally, the use of histological techniques, mRNA analysis, apoptosis determination, and immunohistochemistry were employed to determine the functional and structural changes on the heart. Echocardiograph analysis revealed a compensatory phase that occurred early in the time course (1–8 weeks) and decompensation reverting toward heart failure at weeks 12 and 14. Throughout the study, an increase in cardiomyocyte hypertrophy, cardiac fibrosis, apoptosis, TGF-β, and the presence of α-SMA-positive cells were determined. A compensatory period in mice treated with ethanol occurred early followed by a transition to a dilated phenotype over time. A number of factors may be involved in this process including the activation of myofibroblasts and their fibrotic activities that is correlated with the presence of transforming growth factor beta.

Feeding stimulates robust increases in muscle protein synthesis (MPS); however, ageing may alter the anabolic response to protein ingestion and the subsequent aminoacidaemia. With this as background, we aimed to determine in the present study the dose–response of MPS with the ingestion of isolated whey protein, with and without prior resistance exercise, in the elderly. For the purpose of this study, thirty-seven elderly men (age 71 (sd 4) years) completed a bout of unilateral leg-based resistance exercise before ingesting 0, 10, 20 or 40 g of whey protein isolate (W0–W40, respectively). Infusion of l-[1-13C]leucine and l-[ring-13C6]phenylalanine with bilateral vastus lateralis muscle biopsies were used to ascertain whole-body leucine oxidation and 4 h post-protein consumption of MPS in the fed-state of non-exercised and exercised leg muscles. It was determined that whole-body leucine oxidation increased in a stepwise, dose-dependent manner. MPS increased above basal, fasting values by approximately 65 and 90 % for W20 and W40, respectively (P < 0·05), but not with lower doses of whey. While resistance exercise was generally effective at stimulating MPS, W20 and W40 ingestion post-exercise increased MPS above W0 and W10 exercised values (P < 0·05) and W40 was greater than W20 (P < 0·05). Based on the study, the following conclusions were drawn. At rest, the optimal whey protein dose for non-frail older adults to consume, to increase myofibrillar MPS above fasting rates, was 20 g. Resistance exercise increases MPS in the elderly at all protein doses, but to a greater extent with 40 g of whey ingestion. These data suggest that, in contrast to younger adults, in whom post-exercise rates of MPS are saturated with 20 g of protein, exercised muscles of older adults respond to higher protein doses.

Regular fish or fish oil intake is associated with a low incidence of heart failure clinically, and fish oil-induced reduction in cardiac remodelling seen in hypertrophy models may contribute. We investigated whether improved cardiac energy efficiency in non-hypertrophied hearts translates into attenuation of cardiac dysfunction in hypertrophied hearts. Male Wistar rats (n 33) at 8 weeks of age were sham-operated or subjected to abdominal aortic stenosis to produce pressure-overload cardiac hypertrophy. Starting 3 weeks post-operatively to follow initiation of hypertrophy, rats were fed a diet containing 10 % olive oil (control) or 5 % fish oil (ROPUFA® 30 (17 % EPA, 10 % DHA))+5 % olive oil (FO diet). At 15 weeks post-operatively, ventricular haemodynamics and oxygen consumption were evaluated in the blood-perfused, isolated working heart. Resting and maximally stimulated cardiac output and external work were >60 % depressed in hypertrophied control hearts but this was prevented by FO feeding, without attenuating hypertrophy. Cardiac energy efficiency was lower in hypertrophy, but greater in FO hearts for any given cardiac mass. Coronary blood flow, restricted in hypertrophied control hearts, increased with increasing work in hypertrophied FO hearts, revealing a significant coronary vasodilator reserve. Pronounced cardiac dysfunction in hypertrophied hearts across low and high workloads, indicative of heart failure, was attenuated by FO feeding in association with membrane incorporation of n-3 PUFA, principally DHA. Dietary fish oil may offer a new approach to balancing the high oxygen demand and haemodynamic requirements of the failing hypertrophied heart independently of attenuating hypertrophy.

Only small groups of children, and especially infants, with hypertrophic cardiomyopathy have been analysed thus far. The clinical features, and the evolution, of this potentially heterogeneous disease, therefore, remain to be clarified. We describe the clinical profile of 35 patients with hypertrophic cardiomyopathy, 18 being younger than 1 year when first seen. Electrocardiography, chest radiography and echocardiography (m-mode, cross-sectional and color-Doppler) were performed in all patients. Ambulatory electrocardiographic monitoring was performed in 20 patients, and cardiac catheterization in 5 patients. The duration of follow-up was 6.6 years, and ranged from 1 month to 15 years. First-degree relatives of 9 infants and 13 children underwent complete echocardiographic evaluation.

Inheritance, along with presence of congestive heart failure, cyanosis, cardiac enlargement and right ventricular hypertrophy proved to be different in infants who presented with hypertrophic cardiomyiopa-thy as compared with those presenting in childhood. In contrast, echocardiography showed that the distribution of ventricular hypertrophy was similar in the two groups. Intractable congestive heart failure, which was the commonest cause of death, was an ominous prognostic sign in infants. Older children, however, tended to die suddenly. Spontaneous resolution of severe ventricular hypertrophy occurred in four infants of non-diabetic mothers within their first 6 months of age. We conclude that hypertrophic cardiomyopathy may represent a constellation of disease entities. The observed spontaneous resolution in 4 infants may represent a new form of the syndrome which carries a good prognosis.