A 36-year-old woman was concerned about being affected with a disease that ran in the family in an autosomal dominant (AD) manner. A few years before presentation, she noticed difficulty when walking in the mountains and this had gradually progressed to problems climbing stairs and an inability to run. She also noted that she could no longer lift her head when in supine position. Her mother had died of this disease in her early forties. She mentioned that many affected family members had been diagnosed with cardiac problems in addition to muscle weakness. Some were treated with an implantable cardioverter defibrillator. In elderly family members, cardiac enlargement was not uncommon.

A boy was referred at the age of 2 years and 8 months because of frequent falls. This occurred several times per day and he had hurt his head on multiple occasions. Earlier major motor milestones had been delayed by several months. He had achieved rolling over at 9 months, crawling at 15, and independent walking just before his second birthday. Speech and language development were also behind as his first word had been heard around the age of 2 and he now mastered no more than ten. He was friendly in his behaviour and made good eye contact. Pregnancy and birth had been unremarkable. His mother was 5 months pregnant with her second child. Family history was unremarkable.

A 70-year-old man noticed a feeling of walking on cotton wool for the past two years. Numbness had progressed from the toes to the knees, and for half a year there was tingling and numbness in the fingertips. These complaints were symmetric and there was no pain. Walking had become insecure. For one year he had no erections, whereas sexual function had previously been normal. There were no other signs of autonomic dysfunction. In the past two years there was also shortness of breath on exertion. A diagnosis of cardiomyopathy had been made recently.

The family history revealed vitreous opacities in the father and several siblings. A brother also had sensory disturbances in his feet and a thickened heart muscle. His four daughters did not have any complaints.

A 41-year-old man was referred because of persistent backache. When questioned, he recalled that he had had firm calves since childhood. Once, after strenuous exercise, he had experienced black coffee-coloured urine. At the time, he did not consult his GP.

A 23-year-old man gradually noticed slowly progressive difficulty running and climbing stairs and therefore he was referred. In retrospect, he had a hollow back since age 10, and when running, he had had difficulty keeping up with his peers. He had a younger brother with similar complaints. Serum CK activity was elevated (15 × ULN). EMG, which had been carried out by the referring neurologist, showed small motor unit action potentials.

A 49-year-old man, who had always been very active, noted backache and pain in his neck starting four years ago. During this period, it became more difficult to rise from a chair and from his bed, to climb the stairs, or to carry heavy objects. Walking became a bit more difficult over time. He still went to the gym, but noticed that flexing his knees against resistance became more difficult. He slept well, could easily lie flat during the night, and did not experience myalgia, and there were no sensory disturbances. There were no symptoms of respiratory insufficiency. Family history was unremarkable.

Key Learning Points

1. 1. Up to one-third of neonates with congenital heart disease will be discharged without a diagnosis.

2. 2. Infants with congenital heart disease can present critically unwell in infancy.

3. 3. Maintaining ductal patency with prostaglandin can be lifesaving in children with duct-dependent congenital heart disease.

4. 4. Children undergoing staged single-ventricle palliation are at increased risk of death, and stabilisation requires some understanding of their underlying anatomy and physiology.

5. 5. Children presenting with cardiogenic shock secondary to cardiomyopathy and myocarditis can be difficult to differentiate from children with septic shock. Initial management is supportive, aimed at maintaining adequate oxygen delivery.

Cardiomyopathy is a disease of the myocardium associated with cardiac dysfunction that cannot be explained by abnormal loading conditions or congenital heart disease. Dilated cardiomyopathy (DCM) is a phenotypic class of cardiomyopathy that is defined by ventricular chamber dilation with dysfunction that is secondary to ineffective systolic shortening. In children without known structural heart abnormalities DCM is the most common cause of congestive heart failure. The outcome of patients presenting with DCM is variable, with some children who present with fulminant heart failure requiring mechanical circulatory support followed by transplantation while others recover normal function. This chapter details the perioperative considerations involved in care of a child with severe DCM.

The overall incidence of pediatric cardiomyopathy is estimated to be approximately 1–1.5 cases per 100,000 patients. The majority are due to dilated cardiomyopathy, which accounts for more than 50% of all cases. Hypertrophic cardiomyopathy is the second leading cause, with restrictive cardiomyopathy being the least common. While distinct classifications exist, in practice the variants occur in combination. However, there is generally a predominant phenotype diagnosed by echocardiography that allows for the formation of multicenter registries to track the epidemiologic, management, and outcomes related to pediatric cardiomyopathy. This chapter focuses on mixed hypertrophic and restrictive forms of cardiomyopathy and discusses the perioperative management of a patient with mixed cardiomyopathy.