Laminopathies represent a group of inherited disorders, with emerging novel and atypical manifestations. We present the case of a 17-year-old boy with LMNA mutation, showing dilated cardiomyopathy, aortic root dilatation, pontine cavernous angiomas, sensorineural hearing loss, and osteogenic sarcoma. These findings expand the known phenotypic spectrum of laminopathies and highlight the need for multidisciplinary evaluation from a young age.

Takotsubo cardiomyopathy, also known as stress cardiomyopathy or broken heart syndrome, is named for echocardiographic features that look like the “tako-tsubo” (octopus trap). While classically associated with older women after experiencing significant emotional distress, it can also occur in paediatrics. Our patient is an 11-year-old male with a complex medical history who developed Takotsubo cardiomyopathy after cardiac arrest during anaesthesia induction. He was successfully resuscitated, but this case highlights an example of an unusual drug interaction and the first of its description in paediatrics.

We report the case of a 10-month-old infant presenting with dilated cardiomyopathy caused by septal dyssynchrony linked to a right septal accessory pathway-mediated pre-excitation. No atrioventricular reciprocating tachycardia was reported, but this pre-excitation resulted in left septal dyssynchrony. After the introduction of flecainide therapy, the antegrade pre-excitation disappeared on ECG, leading to normalisation of left ventricular function.

Desminopathy is a rare heritable cardiac and skeletal muscle disease caused by variants in the DES gene, which encodes the primary muscle-specific intermediate filament protein, known as desmin. Childhood-onset is commonly associated with severe early-onset myopathy and early death. Here, we reported an 11-year-old Chinese girl presenting with complete atrioventricular block and cardiomyopathy, without skeletal muscle involvement. Genetic analysis identified a de novo variant (c.152C > T/p.Ser51Phe) in the DES gene.

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.