Mitochondrial trifunctional protein deficiency is a long-chain fatty acid disorder that may include manifestations of severe cardiomyopathy and arrhythmias. The pathophysiology for the severe presentation is unclear but is an indicator for worse outcomes. Triheptanoin, a synthetic medium chain triglyceride, has been reported to reverse cardiomyopathy in some individuals, but there is limited literature in severe cases. We describe a neonatal onset of severe disease whose clinical course was not improved despite mechanical support and triheptanoin.

We report the case of a 16-year-old female with previously diagnosed bilateral sub-segmental pulmonary emboli who presented in cardiogenic shock from depressed biventricular function with cardiac MRI demonstrating concern for microvascular coronary injury. She was ultimately diagnosed with catastrophic antiphospholipid antibody syndrome-induced ischaemic cardiomyopathy, potentially associated with an underlying autoimmune connective tissue disease.

Dilated cardiomyopathy is an expected manifestation and common cause of death in patients with Duchenne muscular dystrophy. We present an unusually rapid progression of cardiomyopathy in a boy with Duchenne muscular dystrophy. Expanded genetic testing revealed a contiguous Xp21 deletion involving dystrophin and XK genes, responsible for Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome, respectively, resulting in a more severe cardiac phenotype.

A 17-year-old woman was admitted due to a complete atrioventricular block. Comprehensive analytic and imaging studies were conducted to determine the aetiology. Cardiac magnetic ressonance imaging revealed concentric hypertrophy of the left ventricle and diffuse intramural late enhancement gadolinium. Genetic testing identified a heterozygous pathogenic variant in the desmin gene. To manage atrioventricular block, a dual-chamber pacemaker was implanted. During follow-up, no spontaneous ventricular activity was detected.

Mid-aortic syndrome is an uncommon vascular disease characterised by lower thoracic and upper abdominal aorta stenosis and can occur even in neonatal or infant periods. Here, we report an interesting case of a 2-month-old female with diffuse hypoplasia of the lower abdominal aorta and secondary dilated cardiomyopathy. In our patient, her abdominal aortic narrowing spontaneously normalised over time with the administration of consistent and goal-directed heart failure therapy, supporting adequate growth and natural recovery.

The interesting study has limitations that put the results and their interpretation into perspective. m.3243A>G carriers should undergo prospective testing for multisystem disease to avoid missing subclinical multisystem involvement. m.3243A>G carriers with hypertrophic cardiomyopathy require long-term electrocardiogram recordings to determine whether implantable cardioverter defibrillator implantation is necessary or not. To assess the outcome of m.3243A>G carriers, knowledge of heteroplasmy rates and mtDNA copy numbers is required. It is tempting to assign pathogenicity when any pathogenic variant is seen with genotype-phenotype correlation. However, double hits are possible and if genetic information is to be used to screen or risk-stratify other family members, the standard of care would be to ensure that post-mortem genetic autopsy is performed for a panel of causative genes, and that an autopsy is done to exclude other causes of death, if possible.

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.

Danon disease is a rare X-linked disorder caused by deficiency of the lysosome-associated membrane protein-2. We report a case of hypertrophic obstructive cardiomyopathy secondary to a novel mutation in the lysosome-associated membrane protein-2 gene in a 10-year-old male adolescent. We performed a modified extended Morrow procedure to minimise the risk of death and improve the patient’s quality of life. The patient did not have exertional dyspnoea, and auscultation did not reveal a cardiac murmur at 1-year follow-up.

A previously healthy 4-year-old female presented in cardiogenic shock with pneumococcal meningitis. Findings on echocardiogram raised suspicion for takotsubo cardiomyopathy. With supportive care, left ventricular systolic function normalised. Findings on cardiac imaging helped determine the aetiology and avoid further invasive studies or unnecessary treatment.

The cardiac sarcomere is a cellular structure in the heart that enables muscle cells to contract. Dozens of proteins belong to the cardiac sarcomere, which work in tandem to generate force and adapt to demands on cardiac output. Intriguingly, the majority of these proteins have significant intrinsic disorder that contributes to their functions, yet the biophysics of these intrinsically disordered regions (IDRs) have been characterized in limited detail. In this review, we first enumerate these myofilament-associated proteins with intrinsic disorder (MAPIDs) and recent biophysical studies to characterize their IDRs. We secondly summarize the biophysics governing IDR properties and the state-of-the-art in computational tools toward MAPID identification and characterization of their conformation ensembles. We conclude with an overview of future computational approaches toward broadening the understanding of intrinsic disorder in the cardiac sarcomere.

We conducted a scientific survey of paediatric practitioners who manage heart failure with dilated cardiomyopathy in children. The survey covered management from diagnosis to treatment to monitoring, totalling 63 questions. There were 54 respondents from 40 institutions and 3 countries. There were diverse selections of management options by the respondents in general, but also unanimity in some management options. Variation in practice is likely due to the relative paucity of scientific data in this field and lack of strong evidence-based recommendations from guidelines, which presents an opportunity for future research and quality improvement efforts as the evidence base continues to grow.