A. Voltolini

M. Frigerio

S. Carugo

AIR Universita degli studi di Milano

European Journal of Heart Failure (2019) VIEWPOINT
doi:10.1002/ejhf.1544
Of hearts, minds, and guts: difficulties
in diagnosing heart failure in the young
Maria Frigerio1*, Stefano Carugo2, and Alessandra Voltolini3
12nd Section of Cardiology, Heart Failure and Cardiac Transplant Unit, De Gasperis Cardio Center, Niguarda Hospital, Milan, Italy; 2Cardiology Unit, San Paolo Hospital,
Department of Health Sciences, University of Milan, Milan, Italy; and 3Clinical Psychology Service, Department of Mental Health, Niguarda Hospital, Milan, Italy
One year ago, a woman in her early twenties was diagnosed for
the first time with dilated cardiomyopathy and low-output state
at the emergency room of a city hospital, and was immediately
transferred to the intensive care unit of a centre with advanced
heart failure treatment and transplantation facilities. Due to refrac-
tory cardiogenic shock, she required temporary mechanical cir-
culatory support and underwent emergency heart transplantation
after 3 days. The explanted heart showed the typical pathological
features of chronic dilated cardiomyopathy, with normal coronary
arteries and no signs of recent/acute myocardial injury. Thus, what
presented as a fulminant disease was indeed the terminal stage of
a previously unrecognized chronic condition.
Delaying diagnosis of heart failure exposes patients to the risk of
death, and precludes the opportunity for reverse remodelling and
clinical improvement that can be observed with guideline-directed
therapies in a non-negligible proportion of subjects, especially in
women with non-ischaemic heart disease.1 Timely implementation
of recommended management strategies relies largely upon the
ability to identify the affected or possibly affected subjects in the
primary care setting. We reconsidered the history of this patient,
in order to identify factors that may reduce physicians’ capability
to diagnose heart failure, especially in the young.
A matter of hearts and minds
During the year preceding transplantation, the patient had com-
plained several times with the family physician for shortness of
breath on exertion, fatigue, difficulties in lying in bed and in get-
ting asleep. The doctor attributed these symptoms to anxiety and
dissatisfaction with patient’s working and personal conditions. This
woman was indeed labelled as a subject with a ‘borderline person-
ality disorder’, after an episode of self-injury (self-inflicted super-
ficial wounds) that had occurred when she was a teenager. Later
on, upper abdominal pain, vomiting and weight loss (> 10 kg in
2 months) became the prominent symptoms. Patient’s body weight
had always been within the normal range, nevertheless there were
*Corresponding author. 2nd Section of Cardiology, Heart Failure and Cardiac Transplant Unit, De Gasperis Cardio Center, Niguarda Hospital, Piazza Ospedale Maggiore 3, 20162
Milan, Italy. Tel: +39 02 64447791, Fax: +39 02 64442566, Email: maria.frigerio@ospedaleniguarda.it
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. eating behaviour irregularities. Thus, weight loss and hyporexia
were also interpreted as due to psychological distress. Notably, at
the time of self-injuries, the patient and her parents had shown fear
and denial toward any psychiatric diagnosis, refusing psychological
support and follow-up. Years later, they were profoundly frustrated
by functional interpretation of patient’s symptoms, and appeared
somehow relieved when a physical diagnosis of heart disease had
been finally made, despite its severity.
Non-suicidal self-injury is reported in more than 17% of adoles-
cents, 13% of young adults, and 5% of adults, and at societal level
there are strong implicit and explicit biases against these subjects.2
Patients with a history of psychiatric or behavioural disorders are
known to be at risk for experiencing ‘diagnostic overshadowing’,
meaning that the stigma of mental illness makes healthcare profes-
sionals to interpret reported physical symptoms as part of patients’
mental health problems. As a consequence, they may be inade-
quately investigated and treated.3–5 Functional or mental interpre-
tation of symptoms is more frequent in women than in men even in
the absence of a psychiatric history, and gender bias is reported to
influence medical decision in the field of ischaemic heart disease.6
Paradoxically, repeated, frequent reporting of the same symptoms
to the family physician could have had the effect of making our
patient to be considered as a ‘complainer’, thus receiving less rather
than more attention over time.
A matter of hearts and guts
A few weeks before undergoing transplantation, our patient had
accessed the emergency room of another hospital complaining for
epigastric pain, and had been evaluated according to the ‘chest
pain pathway’. The electrocardiogram showed sinus tachycardia
(120 b.p.m.), a prominent left atrial component of P wave, and
non-specific T-wave abnormalities. The results of laboratory tests
(including high-sensitivity troponin T but not natriuretic peptides)
were normal. Cardiac ischaemia then had been ruled out, and
the patient had been discharged with a diagnosis of ‘functional
© 2019 The Authors
European Journal of Heart Failure © 2019 European Society of Cardiology
2 Viewpoint
Figure 1 Summary of the process leading to diagnosis of heart failure in the emergency room. The figure shows how the diagnosis of severe,
decompensated heart failure due to previously unrecognized dilated cardiomyopathy was reached after the patient accessed the emergency
room complaining of epigastric pain, vomiting, and weight loss. The timeline is represented on the left, with black background. Main findings,
their interpretation, and subsequent decisions are summarized in the boxes. Only most relevant pathological findings are reported. Green
code assignment at triage means low short-term risk/low priority. Cardiomegaly and lung congestion were found at chest X-ray. Twelve-lead
electrocardiogram (EKG) showed sinus tachycardia, left atrial enlargement, left axial deviation, non-specific ST-T abnormalities, suggesting left
ventricular overload. Echocardiography recordings were not available. AHF, advanced heart failure; ALT, alanine amino transferase (normal
values < 40 IU); AST, aspartate amino transferase (normal values < 40 IU); BE, base excess; Bil, bilirubin (normal values< 1 mg/dL); BP, blood
pressure; echo, echotomography; ePAP, estimated pulmonary artery pressure; HCO3, bicarbonate; HR, heart rate; HTx, heart transplantation;
INR, international normalized ratio; IVC, inferior vena cava; Lab, laboratory tests; Lac, lactate (normal values ≤ 2.5 mmoL/L); LDH, lactate
dehydrogenase (normal values < 400 IU); LVEDD, left ventricular end-diastolic diameter; LVEF, left ventricular ejection fraction; pO2, partial
pressure of oxygen; pCO2, partial pressure of carbon dioxide; SaO2, arterial oxygen saturation; SvO2, mixed venous oxygen saturation.
dyspepsia’. Gastroenterological and psychiatric consultations had
been suggested.
Feeding difficulties, loss of appetite, and delayed growth are
typical of heart failure in the newborns, infants and children,7
while in adult patients dyspnoea and fatigue are the classic heart
failure symptoms.1 It is not of common knowledge that teenagers
and young adults may adapt over time to high left ventricular .
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.. filling pressure, and present with symptoms and signs of visceral
congestion rather than with dyspnoea, rales or wheezing, as
pointed out in some studies.8,9 Upper abdominal discomfort with
epigastric pain that exacerbates after meals or on exercise, reduced
food intake, and weight loss are due to liver and bowel congestion
and/or to inadequate cardiac output, with an imbalance between
requests and flow redistribution during digestion. Patients with
© 2019 The Authors
European Journal of Heart Failure © 2019 European Society of Cardiology
Viewpoint 3
these symptoms are often evaluated for gastrointestinal, liver,
or biliary tract disease, but recommendations for work-up of
epigastric or upper abdominal pain and dyspepsia do not list heart
failure among their possible causes.10–12 On the other side, heart
failure guidelines describe these symptoms mostly in the setting of
chronic, advanced heart failure, and do not mention explicitly pain,
which is relevant in patients’ experience and, consequently, in their
narration.1 Thus, currently available practice educational tools do
not promote the awareness that upper abdominal symptoms and
weight loss may be related to heart failure in newcomers, beyond
the boundaries of paediatric age.
A matter of doctors’ minds
In the night in which heart failure was finally diagnosed, at triage our
patient had been classified with low priority, her symptoms being
attributed to eating behaviour disturbances. Besides the mental
illness bias, the absence of pulmonary rales and the lack of aware-
ness of the possible presentation of heart failure with digestive
symptoms among internists contributed to initial misinterpreta-
tion of the clinical picture, and to underestimation of its severity.
Then tachycardia, electrocardiogram, liver dysfunction (which was
absent at previous hospital access), and cardiomegaly at chest X-ray
(that had not been performed at the other hospital) triggered car-
diologist’s consultation, and the right diagnosis was made (Figure 1).
Notably, despite their good negative predictive value,1 natriuretic
peptide levels were not assessed at both hospitals.
Missed or wrong diagnoses are probably underestimated, never-
theless they represent a relevant proportion of reported medical
errors.13 Cognitive biases, gaps in knowledge and communication
skills, time restraints, pitfalls in the flow of medical information, and
other factors contribute to disguise physician’s attention from the
clues and links that lead to the right diagnosis.3,13 A common cause
of misdiagnosis is the heuristic bias of going straightforwardly to
the most probable condition and stick to it, disregarding alternative
diagnosis.3 The growing amount of epidemiological data regarding
various medical conditions contributes to our knowledge of clini-
cal profiles and disease patterns, but, when approaching individuals,
it must be remembered that they may or may not fit the average
patient as characterized by cohort studies. In other words, physi-
cians must ask themselves if symptoms and signs may suggest the
presence of a serious – either frequent or infrequent – medical
condition, a tip for medical reasoning called ‘worst case scenario’.3
Everybody knows that heart failure is typically a disease of the
elderlies, nonetheless we all must keep in mind also that it por-
tends a high risk at any age: in several reports from random-
ized or observational studies, with an upper age limit of 40 to
50 years, only 1.5–2.5% of the patients were classified as ‘young’,
and their 1-year mortality was between 6% and 12%.8,9,14 Addi-
tionally, among patients discharged from the emergency room, the
presence of dyspnoea or malaise/fatigue, i.e. of the commonest
heart failure symptoms, was associated with a risk of dying within
1week of more than three times the average, higher than that
of patients with a definite diagnosis of heart failure15 – suggesting
that heart failure is even more dangerous when unrecognized than
when proven. Incidentally, the above quoted paper reported also ..
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.. that a diagnosis of mental illness was associated with a more
than four-fold risk of dying early after discharge from the emer-
gency room,15 indicating that these subjects require special atten-
tion – the opposite of what goes under the term of ‘diagnostic
overshadowing’.4,5
Implications
One year after transplantation, our patient is doing well, and is
able to cope with her unusual condition, also with the help of
regular psychological follow-up. In our opinion, stigma related to
behavioural disturbances, lack of awareness of the possible rela-
tionship between abdominal symptoms and heart failure, inappro-
priate application of epidemiological knowledge when approaching
individuals, plus perhaps gender bias, played a role in delaying the
diagnosis of heart failure. The trajectory of this young woman sug-
gests that more attention should be paid to qualitative and rela-
tional aspects of medical education and medicine practice. The
awareness that in young adults heart failure may present with symp-
toms related to visceral congestion must be promoted among
specialists and primary care physicians, and pertinent documents
should be revised. Most of all, we should keep an open-minded,
investigational attitude when approaching new patients, or new
symptoms in patients we believe to know well, in order to dis-
cover important clues and understand their meaning, beyond what
appears at first glance.
Conflict of interest: none declared.
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© 2019 The Authors
European Journal of Heart Failure © 2019 European Society of Cardiology


Of hearts, minds, and guts: difficulties in diagnosing heart failure in the young

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Of hearts, minds, and guts: difficulties in diagnosing heart failure in the young

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